name: ankyrin repeat domain-containing protein 53 isoform h1 (human)

description: An ankyrin repeat domain-containing protein 53 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8N9V6-1.


name: YD278_YEAST Uncharacterized protein YDR278C (sprot)

description: A protein that is a translation product of the YDR278C gene in yeast.


name: plasma protease C1 inhibitor isoform h1 (human)

description: A plasma protease C1 inhibitor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P05155-1.


name: cytokine receptor common subunit gamma, signal peptide removed form (human)

description: A cytokine receptor common subunit gamma (human) that has had the signal peptide removed. UniProtKB:P31785, 23-369.


name: T-complex protein 1 subunit alpha cysteinylated 2 (human)

description: A T-complex protein 1 subunit alpha (human) that has been cysteinylated on the residue at the position equivalent to Cys-397 of the amino acid sequence represented by UniProtKB:P17987. UniProtKB:P17987, Cys-397, MOD:00765.


urotensin-2 isoform 1 (rat)

A urotensin-2 isoform 1 that is encoded in the genome of rat.


UTS2_RAT Urotensin-2 (sprot)

A urotensin-2 that is encoded in the genome of rat.


BYST_ARATH Bystin (sprot)

A bystin that is encoded in the genome of Arabidopsis thaliana.


name: dynamin-related protein 3A isoform 1 (Arabidopsis thaliana)

description: A dynamin-related protein 3A (Arabidopsis thaliana) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8S944-1.


name: DRP3A_ARATH Dynamin-related protein 3A (sprot)

description: A dynamin-1-like protein that is encoded in the genome of Arabidopsis thaliana.


name: dynamin-related protein 3A isoform 2 (Arabidopsis thaliana)

description: A dynamin-related protein 3A (Arabidopsis thaliana) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8S944-2.


name: cellular tumor antigen p53 sequence variant E180* (human)

description: A cellular tumor antigen p53 (human) that has has been truncated after the position equivalent to His-179 of the amino acid sequence represented by UniProtKB:P04637-1. Example: UniProtKB:P04637-1, 1-179.


name: ARX1_YEAST Probable metalloprotease ARX1 (sprot)

description: A protein that is a translation product of the ARX1 gene in yeast.


mitoguazone

A hydrazone obtained by formal condensation of the two carbonyl groups of methylglyoxal with the primary amino groups of two molecules of aminoguanidine.


name: GLIT1_CAEEL Neuroligin-like protein glit-1 (sprot)

description: A protein that is a translation product of the glit-1 gene in worm.


name: nucleotide exchange factor SIL1 isoform 1 (mouse)

description: A nucleotide exchange factor SIL1 isoform 1 that is encoded in the genome of mouse.


name: nucleotide exchange factor SIL1 isoform 1

description: A nucleotide exchange factor SIL1 that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9EPK6-1 or a 1:1 ortholog thereof.


name: nucleotide exchange factor SIL1 isoform 1 (rat)

description: A nucleotide exchange factor SIL1 isoform 1 that is encoded in the genome of rat.


A branched amino tetrasaccharide consisting of the linear sequence beta-D-GalNAc-(1->4)-beta-D-Gal-(1->4)-beta-D-Glc having a Neu5Ac residue attached to the galactose via an alpha-(2->3) linkage. Corresponds to the carbohydrate portion of ganglioside GM2.


myosin-11 isoform m2 (mouse)

A myosin-11 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O08638-2.


protocadherin-15 isoform h3 (human)

A protocadherin-15 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96QU1-3.


tunicamycin B2

A nucleoside that is one of the homologues in the mixture that is tunicamycin, characterised by a 13-methyltetradec-2-enoyl fatty acyl substituent on the amino group of the tunicamine moiety.


name: myotonin-protein kinase isoform m6 (mouse)

description: A myotonin-protein kinase (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P54265-6.


gamma-enolase deaminated 1 (mouse)

A gamma-enolase (mouse) that has been deaminated on the residue at the position equivalent to Gln-298 of the amino acid sequence represented by UniProtKB:P17183. UniProtKB:P17183, Gln-298, MOD:00685.


vitamin D-dependent rickets, type 1

category: biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.


name: ARP5_HUMAN Actin-related protein 5 (sprot)

description: An actin-related protein 5 that is encoded in the genome of human.


name: actin-related protein 5 cysteinylated 1 (human)

description: An actin-related protein 5 (human) that has been cysteinylated on the residue at the position equivalent to Cys-155 of the amino acid sequence represented by UniProtKB:Q9H9F9. UniProtKB:Q9H9F9, Cys-155, MOD:00765.


name: actin-related protein 5 deaminated 1 (human)

description: An actin-related protein 5 (human) that has been deaminated on the residue at the position equivalent to Gln-41 of the amino acid sequence represented by UniProtKB:Q9H9F9. UniProtKB:Q9H9F9, Gln-41, MOD:00685.


name: GS13_BACSU General stress protein 13 (sprot)

description: A protein that is a translation product of the yugI gene in Bacillus subtilis subsp. subtilis str. 168.


homeobox protein Hox-C8

A protein that is a translation product of the human HOXC8 gene or a 1:1 ortholog thereof.


name: homeobox protein Hox-C8 isoform 1 (human)

description: A homeobox protein Hox-C8 isoform 1 that is encoded in the genome of human.


homeobox protein Hox-C8 isoform 1

A homeobox protein Hox-C8 that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P31273-1 or a 1:1 ortholog thereof.


name: homeobox protein Hox-C8 isoform 1 (mouse)

description: A homeobox protein Hox-C8 isoform 1 that is encoded in the genome of mouse.


name: autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

description: Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system).


name: N-[3-(4-morpholinyl)-5-oxadiazol-3-iumyl]carbamic acid ethyl ester


name: coiled-coil domain-containing protein 38 isoform m1 (mouse)

description: A coiled-coil domain-containing protein 38 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8CDN8-1.


name: CCD38_MOUSE Coiled-coil domain-containing protein 38 (sprot)

description: A coiled-coil domain-containing protein 38 that is encoded in the genome of mouse.


name: coiled-coil domain-containing protein 38 isoform m2 (mouse)

description: A coiled-coil domain-containing protein 38 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8CDN8-2.


name: Y7169_DICDI Putative uncharacterized protein DDB_G0287169 (sprot)

description: A protein that is a translation product of the DDB_G0287169 gene in Dictyostelium discoideum.


name: Y7203_DICDI Uncharacterized protein DDB_G0286943 (sprot)

description: A protein that is a translation product of the DDB_G0286943 gene in Dictyostelium discoideum.


complement factor B

A protein that is a translation product of the human CFB gene or a 1:1 ortholog thereof.


name: complement factor B, signal peptide removed form (human)

description: A complement factor B (human) that has had the signal peptide removed. UniProtKB:P00751, 26-764.


name: complement factor B phosphorylated 1 (human)

description: A complement factor B (human) that has been phosphorylated on the residue at the position equivalent to Ser-709 of the amino acid sequence represented by UniProtKB:P00751-1. Example: UniProtKB:P00751-1, Ser-709, MOD:00046.


complement factor B isoform h1 (human)

A complement factor B (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P00751-1.


complement factor B isoform h2 (human)

A complement factor B (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P00751-2.


name: complement factor B, signal peptide removed form

description: A complement factor B that has had the signal peptide removed.


name: complement factor B O-glycosylated 1 (human)

description: A complement factor B (human) that has been O-glycosylated at the residue equivalent to Thr-25 of the amino acid sequence represented by UniProtKB:P00751-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P00751-1, Thr-25, MOD:00005~GNO:G53434XO.


name: complement factor B proteolytic cleavage product

description: A complement factor B that has been processed by proteolytic cleavage.


name: complement factor B N-glycosylated 1 (human)

description: A complement factor B (human) that has been N-glycosylated at the residue equivalent to Asn-285 of the amino acid sequence represented by UniProtKB:P00751-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P00751-1, Asn-285, MOD:00160~GNO:G00912UN.


name: complement factor B O-glycosylated 2 (human)

description: A complement factor B (human) that has been O-glycosylated at the residue equivalent to Thr-26 of the amino acid sequence represented by UniProtKB:P00751-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P00751-1, Thr-26, MOD:00005~GNO:G43417UB.


name: complement factor B deaminated 1 (human)

description: A complement factor B (human) that has been deaminated on the residue at the position equivalent to Gln-626 of the amino acid sequence represented by UniProtKB:P00751-1. Example: UniProtKB:P00751-1, Gln-626, MOD:00685.


name: BOS complex subunit TMEM147 isoform 1 (human)

description: A BOS complex subunit TMEM147 isoform 1 that is encoded in the genome of human.


name: TM147_HUMAN BOS complex subunit TMEM147 (sprot)

description: A BOS complex subunit TMEM147 that is encoded in the genome of human.


name: BOS complex subunit TMEM147 methylated 2 (human)

description: A BOS complex subunit TMEM147 (human) that has been methylated on the residue at the position equivalent to Cys-116 of the amino acid sequence represented by UniProtKB:Q9BVK8-1. Example: UniProtKB:Q9BVK8-1, Cys-116, MOD:00660.


name: BOS complex subunit TMEM147 cysteinylated 1 (human)

description: A BOS complex subunit TMEM147 (human) that has been cysteinylated on the residue at the position equivalent to Cys-9 of the amino acid sequence represented by UniProtKB:Q9BVK8-1. Example: UniProtKB:Q9BVK8-1, Cys-9, MOD:00765.


name: BOS complex subunit TMEM147 isoform h2 (human)

description: A BOS complex subunit TMEM147 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9BVK8-2.


name: BOS complex subunit TMEM147 methylated 3 (human)

description: A BOS complex subunit TMEM147 (human) that has been methylated on the residue at the position equivalent to Cys-9 of the amino acid sequence represented by UniProtKB:Q9BVK8-1. Example: UniProtKB:Q9BVK8-1, Cys-9, MOD:00660.


name: BOS complex subunit TMEM147 methylated 1 (human)

description: A BOS complex subunit TMEM147 (human) that has been methylated on the residue at the position equivalent to Cys-35 of the amino acid sequence represented by UniProtKB:Q9BVK8-1. Example: UniProtKB:Q9BVK8-1, Cys-35, MOD:00660.


periodic paralysis

description: Episodes of muscle weakness.


hyperkalemic periodic paralysis

description: Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration.


A hydroperoxy fatty acid that is (14R,15S)-epoxy-(5Z,8Z,10E)-icosatrienoic acid in which the hydroperoxy group is located at position 12S.


HYSA_STRPN Hyaluronate lyase (sprot)

A protein that is a translation product of the SP_0314 gene in Streptococcus pneumoniae TIGR4.


hypotrichosis 3

description: Any hypotrichosis in which the cause of the disease is a mutation in the KRT74 gene.


name: TRAM-dependent toll-like receptor 4 signaling pathway

category: biolink:Pathway biolink:OntologyClass biolink:BiologicalProcess biolink:Occurrent biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing biolink:PhysicalEssenceOrOccurrent

description: The series of molecular signals initiated by a ligand binding to a toll-like receptor 4 where the TRAM adaptor mediates transduction of the signal. Toll-like 4 receptors are pattern recognition receptors that bind bacterial lipopolysaccharide (LPS) to initiate an innate immune response.


activation of immune response

category: biolink:BiologicalProcess biolink:Occurrent biolink:OntologyClass biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing biolink:PhysicalEssenceOrOccurrent

description: Any process that initiates an immune response.


toll-like receptor 8 signaling pathway

description: The series of molecular signals initiated by a ligand binding to the endolysosomal toll-like receptor 8.


activation of innate immune response

description: Any process that initiates an innate immune response. Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. Examples of this process include activation of the hypersensitive response of Arabidopsis thaliana and activation of any NOD or TLR signaling pathway in vertebrate species.


name: B cell receptor apoptotic signaling pathway

description: An extrinsic apoptotic signaling pathway initiated by the cross-linking of an antigen receptor on a B cell.


name: innate immune response activating cell surface receptor signaling pathway

description: The series of molecular signals initiated by a ligand binding to a cell surface receptor that leads to the activation of an innate immune response.


name: TRAM-dependent toll-like receptor signaling pathway

description: The series of molecular signals initiated by a ligand binding to a toll-like receptor where the TRAM adaptor mediates transduction of the signal. Toll-like receptors directly bind pattern motifs from a variety of microbial sources to initiate an innate immune response.


toll-like receptor 12 signaling pathway

description: The series of molecular signals initiated by a ligand binding to the endolysosomal toll-like receptor 12.


name: endosomal pattern recognition receptor signaling pathway

description: The series of molecular signals initiated by the binding of a ligand to an intracellular vesicle pattern recognition receptor (PRR). PRRs bind pathogen-associated molecular pattern (PAMPs), structures conserved among microbial species.


name: peptidoglycan recognition protein signaling pathway

description: The series of molecular signals initiated by binding of peptidoglycan to a receptor and ending with regulation of a downstream cellular process. The main outcome of the Imd signaling is the production of antimicrobial peptides.


name: TRIF-dependent toll-like receptor 4 signaling pathway

description: The series of molecular signals initiated by a ligand binding to a toll-like 4 receptor where the TRIF adaptor mediates transduction of the signal. Toll-like 4 receptors are pattern recognition receptors that bind bacterial lipopolysaccharide (LPS) to initiate an innate immune response.


name: endolysosomal toll-like receptor signaling pathway

description: The series of molecular signals initiated by a ligand binding to an endolysosomal pattern recognition receptor (PRR) of the toll-like family. PRRs bind pathogen-associated molecular pattern (PAMPs), structures conserved among microbial species.


name: induced systemic resistance, ethylene mediated signaling pathway

description: The series of molecular signals mediated by ethylene (ethene) involved in induced systemic resistance.


name: nucleotide-binding oligomerization domain containing 2 signaling pathway

description: The series of molecular signals initiated by the binding of a ligand (such as a bacterial peptidoglycan) to a cytoplasmic nucleotide-binding oligomerization domain containing 2 (NOD2) protein receptor, and ending with regulation of a downstream cellular process.


name: Fc receptor mediated stimulatory signaling pathway

description: The series of molecular signals generated as a consequence of a the binding of the Fc portion of an immunoglobulin by an Fc receptor capable of activating or perpetuating an immune response. The Fc portion of an immunoglobulin is its C-terminal constant region.


name: MyD88-dependent toll-like receptor 4 signaling pathway

description: The series of molecular signals initiated by a ligand binding to a toll-like 4 receptor, where the MyD88 adaptor molecule mediates transduction of the signal. Toll-like 4 receptors bind bacterial lipopolysaccharide (LPS) to initiate an innate immune response.


name: TIRAP-dependent toll-like receptor 4 signaling pathway

description: The series of molecular signals initiated by a ligand binding to a toll-like receptor 4 where the TIRAP/MAL adaptor mediates transduction of the signal. Toll-like 4 receptors are pattern recognition receptors that bind bacterial lipopolysaccharide (LPS) to initiate an innate immune response.


RIG-I signaling pathway

description: The series of molecular signals initiated by the binding ssRNA or dsRNA from another organism to the cytoplasmic pattern recognition receptor (PRR) RIG-1 (also known as DDX58). RIG-I detects RNA synthesized during viral replication or shed by non-viral pathogens, and triggers a signaling pathway to protect the host against infection, for example by inducing the expression of cytokines.


name: nucleotide-binding oligomerization domain containing 1 signaling pathway

description: The series of molecular signals initiated by the binding of a ligand (such as a bacterial peptidoglycan) to a cytoplasmic nucleotide-binding oligomerization domain containing 1 (NOD1) protein receptor, and ending with regulation of a downstream cellular process.


inflammasome-mediated signaling pathway

description: An intracellular signal transduction pathway that starts with a ligand binding to a pattern recognition receptor (PRR), assembly of the inflammasome complex, leading to the activation of CASP1 and inducing an inflammatory response. In some cases, inflammasome-mediated signal transduction can lead to programmed cell death, such as pyroptosis.


name: TIRAP-dependent toll-like receptor signaling pathway

description: The series of molecular signals initiated by a ligand binding to a toll-like receptor where the TIRAP/MAL adaptor mediates transduction of the signal. Toll-like receptors directly bind pattern motifs from a variety of microbial sources to initiate an innate immune response.


name: antigen receptor-mediated signaling pathway

description: The series of molecular signals initiated by the cross-linking of an antigen receptor on a B or T cell.


name: induced systemic resistance, jasmonic acid mediated signaling pathway

description: The series of molecular signals mediated by jasmonic acid involved in induced systemic resistance.


name: immune response-activating cell surface receptor signaling pathway

description: The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of a cell, leading to the activation or perpetuation of an immune response.


name: pattern recognition receptor signaling pathway

description: The series of molecular signals initiated by a ligand binding to a pattern recognition receptor (PRR), and ending with the regulation of a downstream cellular process, e.g. transcription. PRRs bind pathogen-associated molecular pattern (PAMPs), structures conserved among microbial species, or damage-associated molecular pattern (DAMPs), endogenous molecules released from damaged cells.


name: complement receptor mediated signaling pathway

description: The series of molecular signals generated as a consequence of a component of the complement pathway binding to a complement receptor. Such components include both whole complement proteins and fragments of complement proteins generated through the activity of the complement pathway.


toll-like receptor 11 signaling pathway

description: The series of molecular signals initiated by a ligand binding to the endolysosomal toll-like receptor 11.


name: pathogen-associated molecular pattern receptor signaling pathway

description: The series of molecular signals initiated by a ligand binding of a pattern recognition receptor (PRR) to activate a plant innate immune response. PAMP-triggered immunity PRRs bind pathogen-associated molecular pattern (PAMPs), structures conserved among microbial species.


B cell receptor signaling pathway

description: The series of molecular signals initiated by the cross-linking of an antigen receptor on a B cell.


name: cell surface pattern recognition receptor signaling pathway

description: The series of molecular signals initiated by a ligand binding to a cell surface pattern recognition receptor (PRR). PRRs bind pathogen-associated molecular pattern (PAMPs), structures conserved among microbial species.


name: MyD88-dependent toll-like receptor 2 signaling pathway

description: The series of molecular signals initiated by a ligand binding to a toll-like 2 receptor where the MyD88 adaptor molecule mediates transduction of the signal. Toll-like 2 receptors are pattern recognition receptors that bind microbial pattern motifs to initiate an innate immune response.


cGAS/STING signaling pathway

description: The series of molecular signals initiated by the binding of a double-stranded DNA or RNA from another organism to cytosolic cyclic GMP-AMP (cGAMP) synthase (cGAS) that activates innate immune responses through production of the second messenger cGAMP, which activates the adaptor STING.


activation of membrane attack complex

description: The activation of the membrane attack complex components of the complement cascade which can result in death of a target cell through cytolysis.


name: innate immune response-activating signaling pathway

description: The series of molecular signals generated by a ligand binding to its receptor that lead to the activation or perpetuation of an innate immune response.


name: complement component C5a signaling pathway

description: A G protein-coupled receptor signaling pathway initiated by a C5a component of the complement pathway binding to a complement receptor, and ending with regulation of a downstream cellular process. C5a is a peptide derived from the C5 complement factor.


toll-like receptor 13 signaling pathway

description: The series of molecular signals initiated by a ligand binding to the endolysosomal toll-like receptor 13.


name: immune response-activating signaling pathway

description: The series of molecular signals generated by a ligand binding to its receptor that lead to the activation or perpetuation of an immune response.


toll-like receptor 1 signaling pathway

description: The series of molecular signals initiated by a ligand binding to toll-like receptor 1.


name: positive regulation of mast cell activation by Fc-epsilon receptor signaling pathway

description: An Fc-epsilon receptor signaling pathway that results in the change in morphology and behavior of a mast cell resulting from exposure to a cytokine, chemokine, soluble factor, or to (at least in mammals) an antigen which the mast cell has specifically bound via IgE bound to Fc-epsilonRI receptors.


toll-like receptor 6 signaling pathway

description: The series of molecular signals initiated by a ligand binding to toll-like receptor 6.


name: cell surface toll-like receptor signaling pathway

description: The series of molecular signals initiated by a ligand binding to a cell surface pattern recognition receptor (PRR) of the toll-like family.


name: stimulatory killer cell immunoglobulin-like receptor signaling pathway

description: The series of molecular signals initiated by a ligand binding to a killer cell immunoglobulin-like receptor capable of cellular activation.


name: T-box transcription factor TBX4 isoform h2 (human)

description: A T-box transcription factor TBX4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P57082-2.


Absent retinal pigment epithelium

category: biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing


vinorelbine

A vinca alkaloid with a norvinblastine skeleton.


PANS1_ARATH Protein PATRONUS 1 (sprot)

A protein that is a translation product of the PANS1 gene in Arabidopsis thaliana.


acute hemorrhagic conjunctivitis

description: Acute conjunctivitis that is characterized by bleeding into the conjunctiva.


viral conjunctivitis

description: Conjunctivitis resulting from viral infection.


epidemic keratoconjunctivitis

description: Keratoconjunctivitis resulting from infection by adenoviruses.


name: PRP3_SCHPO U4/U5/U6 small nuclear ribonucleoprotein prp3 (sprot)

description: A U4/U6 small nuclear ribonucleoprotein Prp3 that is encoded in the genome of Schizosaccharomyces pombe 972h-.


homeobox protein HMX2 isoform 1 (human)

A homeobox protein HMX2 isoform 1 that is encoded in the genome of human.


name: metallothionein-like protein 4A isoform 1 (Arabidopsis thaliana)

description: A metallothionein-like protein 4A (Arabidopsis thaliana) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P93746-1.


name: outer dense fiber protein 2 isoform h8 (human)

description: An outer dense fiber protein 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q5BJF6-8.


name: cellular tumor antigen p53 sequence variant Q5* (human)

description: A cellular tumor antigen p53 (human) that has has been truncated after the position equivalent to Pro-4 of the amino acid sequence represented by UniProtKB:P04637-1. Example: UniProtKB:P04637-1, 1-4.


name: protein tyrosine phosphatase type IVA 3 isoform 1 (mouse)

description: A protein tyrosine phosphatase type IVA 3 isoform 1 that is encoded in the genome of mouse.


protein tyrosine phosphatase type IVA 3

A protein that is a translation product of the human PTP4A3 gene or a 1:1 ortholog thereof.


name: protein tyrosine phosphatase type IVA 3 cysteinylated 1 (human)

description: A protein tyrosine phosphatase type IVA 3 (human) that has been cysteinylated on the residue at the position equivalent to Cys-49 of the amino acid sequence represented by UniProtKB:O75365-1. Example: UniProtKB:O75365-1, Cys-49, MOD:00765.


name: protein tyrosine phosphatase type IVA 3 isoform 1 (human)

description: A protein tyrosine phosphatase type IVA 3 isoform 1 that is encoded in the genome of human.


name: protein tyrosine phosphatase type IVA 3 isoform h2 (human)

description: A protein tyrosine phosphatase type IVA 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75365-2.


name: protein tyrosine phosphatase type IVA 3 isoform 1

description: A protein tyrosine phosphatase type IVA 3 that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75365-1 or a 1:1 ortholog thereof.


name: TP4A3_HUMAN Protein tyrosine phosphatase type IVA 3 (sprot)

description: A protein tyrosine phosphatase type IVA 3 that is encoded in the genome of human.


name: protein tyrosine phosphatase type IVA 3 isoform h3 (human)

description: A protein tyrosine phosphatase type IVA 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75365-3.


name: TP4A3_MOUSE Protein tyrosine phosphatase type IVA 3 (sprot)

description: A protein tyrosine phosphatase type IVA 3 that is encoded in the genome of mouse.


name: K1C18_DANRE Keratin, type I cytoskeletal 18 (sprot)

description: A protein that is a translation product of the krt18 gene in zebrafish.


name: BCAS3 microtubule associated cell migration factor isoform 1

description: A BCAS3 microtubule associated cell migration factor that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9H6U6-1 or a 1:1 ortholog thereof.


name: BCAS3 microtubule associated cell migration factor isoform 1 (mouse)

description: A BCAS3 microtubule associated cell migration factor isoform 1 that is encoded in the genome of mouse.


name: congenital/infantile spindle cell rhabdomyosarcoma with VGLL2/NCOA2/CITED2 rearrangements

description: Congenital/infantile spindle cell rhabdomyosarcoma characterized by the presence of gene fusions involving the VGLL2, SRF, TEAD1, NCOA2, and CITED2 genes.


spindle cell sarcoma

description: A malignant mesenchymal neoplasm composed of spindle-shaped cells. This is a morphologic term which can be applied to a wide range of sarcomas.


spindle cell synovial sarcoma

description: A synovial sarcoma characterized by the presence of a spindle cell component only.


intimal sarcoma

description: A malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor.


childhood spindle cell rhabdomyosarcoma

description: A spindle cell rhabdomyosarcoma occurring in children.


spindle cell rhabdomyosarcoma

description: An uncommon variant of rhabdomyosarcoma characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck.


name: intraosseous spindle cell rhabdomyosarcoma with TFCP2/NCOA2 rearrangements

description: Intraosseous spindle cell rhabdomyosarcoma characterized by the fusion of the EWSR1 or FUS gene with the TFCP2 gene, or the MEIS1 gene with the NCOA2 gene.


spindle cell liposarcoma

description: A morphologic variant of well differentiated liposarcoma characterized by the presence of bland spindle cells and lipoblasts within a myxoid or fibrous stroma.


name: elongator complex protein 2 isoform h3 (human)

description: An elongator complex protein 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6IA86-3.


name: negative regulation of pre-miRNA processing

description: Any process that stops, prevents or reduces the frequency, rate or extent of pre-microRNA processing.


uncharacterized protein YnaE

A protein that is a translation product of the Escherichia coli K-12 ynaE gene or a 1:1 ortholog thereof.


name: YNAE_ECOLI Uncharacterized protein YnaE (sprot)

description: An uncharacterized protein YnaE that is encoded in the genome of Escherichia coli K-12.


name: myocyte-specific enhancer factor 2B isoform mB-2 (mouse)

description: A myocyte-specific enhancer factor 2B (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O55087-2.


name: EHD1_HUMAN EH domain-containing protein 1 (sprot)

description: An EH domain-containing protein 1 that is encoded in the genome of human.


name: EH domain-containing protein 1 isoform 1 (human)

description: An EH domain-containing protein 1 isoform 1 that is encoded in the genome of human.


name: EH domain-containing protein 1 deaminated 1 (human)

description: An EH domain-containing protein 1 (human) that has been deaminated on the residue at the position equivalent to Gln-81 of the amino acid sequence represented by UniProtKB:Q9H4M9. UniProtKB:Q9H4M9, Gln-81, MOD:00685.


name: FK506-binding protein 15 isoform h1 (human)

description: An FK506-binding protein 15 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q5T1M5-1.


name: leucine-rich glioma-inactivated protein 1 isoform 1

description: A leucine-rich glioma-inactivated protein 1 that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O95970-1 or a 1:1 ortholog thereof.


name: leucine-rich glioma-inactivated protein 1 isoform 1 (human)

description: A leucine-rich glioma-inactivated protein 1 isoform 1 that is encoded in the genome of human.


name: leucine-rich glioma-inactivated protein 1 isoform 1 (mouse)

description: A leucine-rich glioma-inactivated protein 1 isoform 1 that is encoded in the genome of mouse.


name: leucine-rich glioma-inactivated protein 1 isoform 1 (rat)

description: A leucine-rich glioma-inactivated protein 1 isoform 1 that is encoded in the genome of rat.


name: homeotic protein ultrabithorax isoform IIB (fruit fly)

description: A homeotic protein ultrabithorax (fruit fly) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P83949-4.


longiborneol

A sesquiterpene.


cervical polyp

description: A polyp that arises from the surface of the cervix.


cervical fibroepithelial polyp

description: A usually solitary polypoid lesion that arises from the cervix. It usually affects women in their reproductive years. It is characterized by the presence of a connective tissue core and overlying epithelium.


lathosterolosis

description: Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.


sterol biosynthesis disorder

description: An inherited metabolic disease that is has its basis in the disruption of sterol biosynthetic process.


desmosterolosis

description: Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.


mevalonic aciduria

description: Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.


Greenberg dysplasia

description: A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.


X-linked chondrodysplasia punctata 2

description: A rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.


X-linked chondrodysplasia punctata

description: X-linked form of chondrodysplasia punctata.


CHILD syndrome

description: CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.


name: microcephaly-congenital cataract-psoriasiform dermatitis syndrome


X-linked chondrodysplasia punctata 1

description: Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones.


Smith-Lemli-Opitz syndrome

description: Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.


name: cholesterol biosynthetic process disease

description: A disease that has its basis in the disruption of cholesterol biosynthetic process.


name: hyperimmunoglobulinemia D with periodic fever

description: Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).


name: breast cancer metastasis-suppressor 1-like protein isoform m2 (mouse)

description: A breast cancer metastasis-suppressor 1-like protein (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q3U1T3-2.


name: BRM1L_MOUSE Breast cancer metastasis-suppressor 1-like protein (sprot)

description: A breast cancer metastasis-suppressor 1-like protein that is encoded in the genome of mouse.


name: breast cancer metastasis-suppressor 1-like protein isoform 1 (mouse)

description: A breast cancer metastasis-suppressor 1-like protein isoform 1 that is encoded in the genome of mouse.


A nucleoside 3',5'-cyclic phosphorothioate having 7-bromo-7-deazaadenine as the nucleobase (the Rp-stereoisomer).


hemidesmosome

category: biolink:CellularComponent biolink:AnatomicalEntity biolink:PhysicalEssence biolink:OrganismalEntity biolink:SubjectOfInvestigation biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing biolink:PhysicalEssenceOrOccurrent

description: A cell-substrate junction (attachment structure) found in epithelial cells that links intermediate filaments to extracellular matrices via transmembrane complexes. In vertebrates, hemidesmosomes mediate contact between the basal side of epithelial cells and the basal lamina. In C. elegans, hemidesmosomes connect epithelial cells to distinct extracellular matrices on both the apical and basal cell surfaces.


anchoring junction

description: A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.


gap junction

description: A cell-cell junction composed of pannexins or innexins and connexins, two different families of channel-forming proteins.


paranodal junction

description: A highly specialized cell-cell junction found in vertebrates, which forms between a neuron and a glial cell, and has structural similarity to Drosophila septate junctions. It flanks the node of Ranvier in myelinated nerve and electrically isolates the myelinated from unmyelinated nerve segments and physically separates the voltage-gated sodium channels at the node from the cluster of potassium channels underneath the myelin sheath.


adherens junction

description: A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules.


apical ectoplasmic specialization

description: Testis-specific junction between mature spermatids and Sertoli cells at the luminal end of the Sertoli cell.


tricellular tight junction

description: An specialized occluding junction where three epithelial cells meet. It is composed of a branching network of sealing strands that run perpendicularly to the bicellular tight junction at the point of contact between three epithelial cells in an epithelial sheet.


primary plasmodesma

description: A plasmodesma that consists of a simple, single channel; found predominantly in young tissue and formed as a function of cell plate formation during cytokinesis.


nephrocyte diaphragm

description: A specialized cell-cell junction found between nephrocytes of the insect kidney, which is adapted for filtration of hemolymph. The insect nephrocyte is anatomically and functionally similar to the glomerular podocyte of vertebrates.


muscle tendon junction

description: A cell-substrate junction found at the terminal anchorage site of skeletal muscle cells to tendons.


focal adhesion

description: A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).


cell-cell junction

description: A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects.


intercellular canaliculus

description: An extremely narrow tubular channel located between adjacent cells. An instance of this is the secretory canaliculi occurring between adjacent parietal cells in the gastric mucosa of vertebrates.


fascia adherens

description: A cell-cell junction that contains the transmembrane protein N-cadherin, which interacts with identical molecules from neighbouring cells to form a tight mechanical intercellular link; forms a large portion of the intercalated disc, the structure at which myofibrils terminate in cardiomyocytes.


host-symbiont bicellular tight junction

description: An occluding cell-cell junction formed between the membranes of the apical end of an invading cell (e.g. a merozoite in Plasmodium) and a host target cell (e.g. erythrocyte for Plasmodium infection). The junction is a stable yet dynamic structure that moves around the symbiont cell during invasion, enclosing it in a vacuole surrounded by a membrane.


peg and socket contact

description: A cell-cell contact zone that consists of membrane invaginations extending from either cell, which contain tight-, gap-, and adherens junctions. Peg and socket contacts form between endothelial cells and pericytes, and between lens fiber cells.


tight junction

description: A cell-cell junction that seals cells together in an epithelium in a way that prevents even small molecules from leaking from one side of the sheet to the other.


cell-substrate junction

description: A cell junction that forms a connection between a cell and the extracellular matrix.


spot adherens junction

description: A small cell-cell adherens junction assembled during the cellularization stage of insect embyrogenesis; spot adherens junctions later fuse to form the zonula adherens.


desmosome

description: A cell-cell junction in which: on the cytoplasmic surface of each interacting plasma membrane is a dense plaque composed of a mixture of intracellular anchor proteins; a bundle of keratin intermediate filaments is attached to the surface of each plaque; transmembrane adhesion proteins of the cadherin family bind to the plaques and interact through their extracellular domains to hold the adjacent membranes together by a Ca2+-dependent mechanism.


filtration diaphragm

description: A specialized cell-cell junction found between the cells of the excretory system, which provides a barrier for filtration of blood or hemolymph.


smooth septate junction

description: A septate junction that lacks the regular arrays of electron-dense septae found in pleated septate junctions.


septate junction

description: A cell-cell junction that forms a continuous band around each cell in an epithelium; within the septate junction the membranes of adjacent cells maintain a constant distance of approximately 15 nm; found in arthropods.


zonula adherens

description: A cell-cell adherens junction which forms a continuous belt near the apex of epithelial cells.


secondary plasmodesma

description: A plasmodesma with a branched structure, often with many channels leading into a larger central cavity; found in older tissues and usually derived from preexisting primary plasmodesmata.


pleated septate junction

description: A septate junction in which regular arrays of electron-dense septae span the intermembrane space.


basal ectoplasmic specialization

description: Testis-specific junction between mature Sertoli cells involved in establishing the blood-testis barrier of the Sertoli cell.


cell-cell contact zone

description: Extended zone of intimate apposition between two cells containing one or more types of intercellular junctions, e.g., the intercalated disk of muscle.


slit diaphragm

description: A specialized cell-cell junction found between the interdigitating foot processes of the glomerular epithelium (the podocytes) in the vertebrate kidney, which is adapted for facilitating glomerular filtration.


apical junction complex

description: A functional unit located near the cell apex at the points of contact between epithelial cells, which in vertebrates is composed of the tight junction, the zonula adherens, and desmosomes and in some invertebrates, such as Drosophila, is composed of the subapical complex (SAC), the zonula adherens and the septate junction. Functions in the regulation of cell polarity, tissue integrity and intercellular adhesion and permeability.


puncta adhaerentia

description: A small version of the zonula adherens type junction, characterized by a symmetrical adherent point between two cells.


plasmodesma

description: A fine cytoplasmic channel, found in all higher plants, that connects the cytoplasm of one cell to that of an adjacent cell.


bicellular tight junction

description: An occluding cell-cell junction that is composed of a branching network of sealing strands that completely encircles the apical end of each cell in an epithelial sheet; the outer leaflets of the two interacting plasma membranes are seen to be tightly apposed where sealing strands are present. Each sealing strand is composed of a long row of transmembrane adhesion proteins embedded in each of the two interacting plasma membranes.


flagellum attachment zone

description: A network of cytoskeletal and membranous connections responsible for the lateral attachment of the cilium to the cell body in some trypanosomatid species.


intercalated disc

description: A complex cell-cell junction at which myofibrils terminate in cardiomyocytes; mediates mechanical and electrochemical integration between individual cardiomyocytes. The intercalated disc contains regions of tight mechanical attachment (fasciae adherentes and desmosomes) and electrical coupling (gap junctions) between adjacent cells.


musk xylene

A C-nitro compound that is m-xylene bearing three nitro substituents at positions 2, 4 and 6 as well as a tert-butyl group at position 5.


name: SGF73_SCHPO SAGA-associated factor 73 (sprot)

description: A protein that is a translation product of the sgf73 gene in Schizosaccharomyces pombe 972h-.


name: kinesin light chain 1 phosphorylated 2 (human)

description: A kinesin light chain 1 (human) that has been phosphorylated on the residue at the position equivalent to Ser-460 of the amino acid sequence represented by UniProtKB:Q07866-1. Example: UniProtKB:Q07866-1, Ser-460, MOD:00046.


name: transformation/transcription domain-associated protein cysteinylated 1 (mouse)

description: A transformation/transcription domain-associated protein (mouse) that has been cysteinylated on the residue at the position equivalent to Cys-866 of the amino acid sequence represented by UniProtKB:Q80YV3. UniProtKB:Q80YV3, Cys-866, MOD:00765.


N-acetyl-L-methionyl-L-valine

A dipeptide obtained by formal condensation of the carboxy group of N-acetyl-L-methionine with the amino group of L-valine.


name: phosphatidylcholine translocator ABCB4 deaminated 1 (mouse)

description: A phosphatidylcholine translocator ABCB4 (mouse) that has been deaminated on the residue at the position equivalent to Gln-822 of the amino acid sequence represented by UniProtKB:P21440. UniProtKB:P21440, Gln-822, MOD:00685.


name: glutamate carboxypeptidase 2 homolog isoform a (worm)

description: A glutamate carboxypeptidase 2 homolog (worm) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P91406-1.


name: NB5R1_RAT NADH-cytochrome b5 reductase 1 (sprot)

description: An NADH-cytochrome b5 reductase 1 that is encoded in the genome of rat.


name: mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform 1 (human)

description: A mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform 1 that is encoded in the genome of human.


name: mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform 1

description: A mitochondrial 10-formyltetrahydrofolate dehydrogenase that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q3SY69-1 or a 1:1 ortholog thereof.


name: mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform 1 (mouse)

description: A mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform 1 that is encoded in the genome of mouse.


name: Recurrent Oligodendroglioma, IDH-Mutant and 1p/19q-Codeleted

description: The reemergence of oligodendroglioma, IDH-mutant and 1p/19q-codeleted after a period of remission.


name: REST_MOUSE RE1-silencing transcription factor (sprot)

description: An RE1-silencing transcription factor that is encoded in the genome of mouse.


RE1-silencing transcription factor

A protein that is a translation product of the human REST gene or a 1:1 ortholog thereof.


name: RE1-silencing transcription factor isoform r3 (rat)

description: An RE1-silencing transcription factor (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O54963-3.


name: RE1-silencing transcription factor isoform h4 (human)

description: An RE1-silencing transcription factor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13127-4.


name: RE1-silencing transcription factor isoform m3 (mouse)

description: An RE1-silencing transcription factor (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8VIG1-3.


name: RE1-silencing transcription factor deaminated 1 (human)

description: An RE1-silencing transcription factor (human) that has been deaminated on the residue at the position equivalent to Asn-912 of the amino acid sequence represented by UniProtKB:Q13127-1. Example: UniProtKB:Q13127-1, Asn-912, MOD:00684.


name: RE1-silencing transcription factor methylated 1 (human)

description: An RE1-silencing transcription factor (human) that has been methylated on the residue at the position equivalent to Cys-945 of the amino acid sequence represented by UniProtKB:Q13127-1. Example: UniProtKB:Q13127-1, Cys-945, MOD:00660.


name: RE1-silencing transcription factor isoform r5 (rat)

description: An RE1-silencing transcription factor (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O54963-5.


name: RE1-silencing transcription factor isoform r1 (rat)

description: An RE1-silencing transcription factor (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O54963-1.


name: REST_RAT RE1-silencing transcription factor (sprot)

description: An RE1-silencing transcription factor that is encoded in the genome of rat.


name: RE1-silencing transcription factor isoform r6 (rat)

description: An RE1-silencing transcription factor (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O54963-6.


name: RE1-silencing transcription factor isoform h2 (human)

description: An RE1-silencing transcription factor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13127-2.


name: RE1-silencing transcription factor isoform h1 (human)

description: An RE1-silencing transcription factor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13127-1.


name: REST_DANRE RE1-silencing transcription factor (sprot)

description: An RE1-silencing transcription factor that is encoded in the genome of zebrafish.


name: RE1-silencing transcription factor isoform m2 (mouse)

description: An RE1-silencing transcription factor (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8VIG1-2.


name: RE1-silencing transcription factor isoform h3 (human)

description: An RE1-silencing transcription factor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13127-3.


name: RE1-silencing transcription factor isoform r4 (rat)

description: An RE1-silencing transcription factor (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O54963-4.


name: RE1-silencing transcription factor isoform r2 (rat)

description: An RE1-silencing transcription factor (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O54963-2.


name: RE1-silencing transcription factor isoform r7 (rat)

description: An RE1-silencing transcription factor (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O54963-7.


name: RE1-silencing transcription factor isoform m1 (mouse)

description: An RE1-silencing transcription factor (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8VIG1-1.


name: RE1-silencing transcription factor cysteinylated 1 (human)

description: An RE1-silencing transcription factor (human) that has been cysteinylated on the residue at the position equivalent to Cys-945 of the amino acid sequence represented by UniProtKB:Q13127-1. Example: UniProtKB:Q13127-1, Cys-945, MOD:00765.


name: duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery


name: xeroderma pigmentosum, autosomal dominant, mild


name: ABGT_ECOLI p-aminobenzoyl-glutamate transport protein (sprot)

description: An aminobenzoyl-glutamate transport protein that is encoded in the genome of Escherichia coli K-12.


name: E3 ubiquitin-protein ligase CBL phosphorylated 1 (mouse)

description: An E3 ubiquitin-protein ligase CBL (mouse) that has been phosphorylated on the residue at the position equivalent to Ser-767 of the amino acid sequence represented by UniProtKB:P22682. UniProtKB:P22682, Ser-767, MOD:00046.


Other Anatomic Concept

category: biolink:AnatomicalEntity biolink:PhysicalEssence biolink:OrganismalEntity biolink:SubjectOfInvestigation biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing biolink:PhysicalEssenceOrOccurrent


intestinal villus

category: biolink:GrossAnatomicalStructure biolink:AnatomicalEntity biolink:PhysicalEssence biolink:OrganismalEntity biolink:SubjectOfInvestigation biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing biolink:PhysicalEssenceOrOccurrent

description: The tiny hair-like projections that protrude from the inside of the small intestine that contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; the villi increase the absorptive surface area of the small intestine by approximately 30-fold.


name: peroxisomal membrane protein 11A isoform 1 (rat)

description: A peroxisomal membrane protein 11A isoform 1 that is encoded in the genome of rat.


name: B3GT5_HUMAN Beta-1,3-galactosyltransferase 5 (sprot)

description: A beta-1,3-galactosyltransferase 5 that is encoded in the genome of human.


name: mesenchymal stem cell maintenance involved in metanephric nephron morphogenesis

description: The process in which an organism retains a population of mesenchymal stem cells that contributes to the shaping of a nephron in the metanephros. A mesenchymal stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized mesenchymal cells.


name: mesenchymal stem cell maintenance involved in mesonephric nephron morphogenesis

description: The process in which an organism retains a population of mesenchymal stem cells that contributes to the shaping of a nephron in the mesonephros. A mesenchymal stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized mesenchymal cells.


name: skeletal muscle satellite stem cell maintenance involved in skeletal muscle regeneration

description: Any process by which the number of skeletal muscle satellite stem cells in a skeletal muscle is maintained during skeletal muscle regeneration. There are at least two mechanisms by which this is achieved. Skeletal muscle satellite stem cell asymmetric division ensures satellite stem cell numbers are kept constant. Symmetric division of these cells amplifies the number of skeletal muscle satellite stem cells.


name: mesenchymal stem cell maintenance involved in nephron morphogenesis

description: The process in which an organism retains a population of mesenchymal stem cells that contributes to the shaping of a nephron. A mesenchymal stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized mesenchymal cells.


name: neuronopathy, distal hereditary motor, type 5A


Anti-ADAMTS13 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against A Disintegrin and Metalloprotease with ThromboSpondin type 1 repeats, member 13 (ADAMTS13).


name: schmid metaphyseal chondrodysplasia dwarfism, pig

description: Schmid metaphyseal chondrodysplasia dwarfism that occurs in pig.


name: T-lymphocyte activation antigen CD86 isoform h6 (human)

description: A T-lymphocyte activation antigen CD86 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P42081-6.


name: pleckstrin homology domain-containing family H member 3 isoform h1 (human)

description: A pleckstrin homology domain-containing family H member 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q7Z736-1.


name: PKHH3_HUMAN Pleckstrin homology domain-containing family H member 3 (sprot)

description: A pleckstrin homology domain-containing family H member 3 that is encoded in the genome of human.


name: pleckstrin homology domain-containing family H member 3 methylated 1 (human)

description: A pleckstrin homology domain-containing family H member 3 (human) that has been methylated on the residue at the position equivalent to Cys-656 of the amino acid sequence represented by UniProtKB:Q7Z736-1. Example: UniProtKB:Q7Z736-1, Cys-656, MOD:00660.


name: pleckstrin homology domain-containing family H member 3 isoform 3 (human)

description: A pleckstrin homology domain-containing family H member 3 isoform 3 that is encoded in the genome of human.


name: pleckstrin homology domain-containing family H member 3 isoform h4 (human)

description: A pleckstrin homology domain-containing family H member 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q7Z736-4.


name: pleckstrin homology domain-containing family H member 3 isoform h2 (human)

description: A pleckstrin homology domain-containing family H member 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q7Z736-2.


Pfeiffer syndrome type 3

description: Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities.


Pfeiffer syndrome type 2

description: Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.


Pfeiffer syndrome type 1

description: Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development.


name: METN2_STAA8 Methionine import ATP-binding protein MetN 2 (sprot)

description: A protein that is a translation product of the metN2 gene in Staphylococcus aureus subsp. aureus NCTC 8325.


name: FRAS1_MOUSE Extracellular matrix organizing protein FRAS1 (sprot)

description: An extracellular matrix organizing protein FRAS1 that is encoded in the genome of mouse.


name: zinc finger Ran-binding domain-containing protein 2 isoform 1 (rat)

description: A zinc finger Ran-binding domain-containing protein 2 isoform 1 that is encoded in the genome of rat.


name: ZRAB2_RAT Zinc finger Ran-binding domain-containing protein 2 (sprot)

description: A zinc finger Ran-binding domain-containing protein 2 that is encoded in the genome of rat.


name: enhancer of rudimentary homolog methylated 1 (human)

description: An enhancer of rudimentary homolog (human) that has been methylated on the residue at the position equivalent to Cys-69 of the amino acid sequence represented by UniProtKB:P84090. UniProtKB:P84090, Cys-69, MOD:00660.


phosphatidylethanolamine (P-18:0/20:3)

A phosphatidylethanolamine P-38:3 in which the 1-alkenyl group contains 18 carbons and no additional double bonds while the acyl group contains 20 carbons and 3 double bonds.


name: LIM domain transcription factor LMO4 cysteinylated 1 (human)

description: A LIM domain transcription factor LMO4 (human) that has been cysteinylated on the residue at the position equivalent to Cys-64 of the amino acid sequence represented by UniProtKB:P61968. UniProtKB:P61968, Cys-64, MOD:00765.


3p- syndrome

description: Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated.


name: partial deletion of the short arm of chromosome 3


3p25.3 microdeletion syndrome

description: A rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.


name: Ras-like protein family member 10A isoform 1 (mouse)

description: A Ras-like protein family member 10A isoform 1 that is encoded in the genome of mouse.


name: RSLAA_MOUSE Ras-like protein family member 10A (sprot)

description: A Ras-like protein family member 10A that is encoded in the genome of mouse.


name: YC01A_YEAST Putative pelota-like protein YCL001W-A (sprot)

description: A protein that is a translation product of the YCL001W-A gene in yeast.


name: F-box only protein 5 phosphorylated form (human)

description: An F-box only protein 5 (human) that includes at least one phosphorylated residue. UniProtKB:Q9UKT4, MOD:00696.


name: single-stranded DNA-binding protein 3 isoform 1 (mouse)

description: A single-stranded DNA-binding protein 3 isoform 1 that is encoded in the genome of mouse.


name: WAP four-disulfide core domain protein 2 isoform h4 (human)

description: A WAP four-disulfide core domain protein 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q14508-4.


ASK6_ARATH SKP1-like protein 6 (sprot)

A protein that is a translation product of the ASK6(AT3G53060) gene in Arabidopsis thaliana.


name: secreted frizzled-related protein 1 O-glycosylated 2 (human)

description: A secreted frizzled-related protein 1 (human) that has been O-glycosylated at the residue equivalent to Thr-175 of the amino acid sequence represented by UniProtKB:Q8N474-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q8N474-1, Thr-175, MOD:00005~GNO:G43417UB.


name: RBMX2_RAT RNA-binding motif protein, X-linked 2 (sprot)

description: An RNA-binding motif protein, X-linked 2 that is encoded in the genome of rat.


name: severe X-linked mitochondrial encephalomyopathy

description: Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.


name: CLCA_DICDI Chloride channel protein A (sprot)

description: A protein that is a translation product of the clcA gene in Dictyostelium discoideum.


queuosine residue

The nucleoside residue formed from queuosine with linkages at the 3' and 5' positions.


name: NADPH:adrenodoxin oxidoreductase, mitochondrial isoform Long (human)

description: An NADPH:adrenodoxin oxidoreductase, mitochondrial (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P22570-2.


exostosis

description: Non-neoplastic overgrowth of bone.


Heberden's node

description: Osteophytes that most commonly develop on the distal interphalangeal joints, often in the setting of osteoarthritis.


Multiple exostoses

description: Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.


name: glucosidase 2 subunit beta O-glycosylated 6 (human)

description: A glucosidase 2 subunit beta (human) that has been O-glycosylated at the residue equivalent to Thr-287 of the amino acid sequence represented by UniProtKB:P14314-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P14314-1, Thr-287, MOD:00005~GNO:G43417UB.


name: CCHA1_DROME Neuropeptide CCHamide-1 (sprot)

description: A protein that is a translation product of the CCHa1 gene in fruit fly.


name: bilateral acute depigmentation of the iris

description: Bilateral acute depigmentation of the iris (BADI) is characterized by acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber, and heavy pigment deposition in the anterior chamber angle. Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. When associated with iris epithelial depigmentation, iris transillumination defects and atonic/mydriatic pupil, the condition is referred to as bilateral acute iris transillumination (BAIT) which has an increased risk of severe intractable rise in intraocular pressure.


tafazzin isoform h2 (human)

A tafazzin (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q16635-2.


name: HLA class I histocompatibility antigen, A alpha chain deaminated 1 (human)

description: An HLA class I histocompatibility antigen, A alpha chain (human) that has been deaminated on the residue at the position equivalent to Gln-21 of the amino acid sequence represented by UniProtKB:P04439-1. Example: UniProtKB:P04439-1, Gln-21, MOD:00685.


name: hypoxia up-regulated protein 1 O-glycosylated 2 (human)

description: A hypoxia up-regulated protein 1 (human) that has been O-glycosylated at the residue equivalent to Ser-634 of the amino acid sequence represented by UniProtKB:Q9Y4L1-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q9Y4L1-1, Ser-634, MOD:00002~GNO:G43417UB.


DNLI_BPT4 DNA ligase (sprot)

A protein that is a translation product of the 30 gene in Tequatrovirus T4.


nephrotic syndrome, type 12

description: Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene.


name: prolyl 3-hydroxylase 3, signal peptide removed form (human)

description: A prolyl 3-hydroxylase 3 (human) that has had the signal peptide removed. Example: UniProtKB:Q8IVL6-1, 21-736.


Childhood Small Intestinal Carcinoma

description: A small intestinal carcinoma occurring in childhood.


name: Childhood Malignant Small Intestinal Neoplasm

description: A rare malignant small intestinal neoplasm that occurs during childhood.


name: Childhood Small Intestinal Leiomyosarcoma

description: A small intestinal leiomyosarcoma occurring in childhood.


name: NLR family CARD domain-containing protein 3 isoform h1 (human)

description: An NLR family CARD domain-containing protein 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q7RTR2-1.


name: NLRC3_HUMAN NLR family CARD domain-containing protein 3 (sprot)

description: An NLR family CARD domain-containing protein 3 that is encoded in the genome of human.


name: NLR family CARD domain-containing protein 3 isoform h4 (human)

description: An NLR family CARD domain-containing protein 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q7RTR2-4.


name: NLR family CARD domain-containing protein 3 isoform h3 (human)

description: An NLR family CARD domain-containing protein 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q7RTR2-3.


name: NLR family CARD domain-containing protein 3 deaminated 1 (human)

description: An NLR family CARD domain-containing protein 3 (human) that has been deaminated on the residue at the position equivalent to Asn-721 of the amino acid sequence represented by UniProtKB:Q7RTR2-1. Example: UniProtKB:Q7RTR2-1, Asn-721, MOD:00684.


name: NLR family CARD domain-containing protein 3 isoform h2 (human)

description: An NLR family CARD domain-containing protein 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q7RTR2-2.


name: inorganic pyrophosphatase 2, mitochondrial, transit peptide removed form (human)

description: An inorganic pyrophosphatase 2, mitochondrial (human) that has had the transit peptide removed. UniProtKB:Q9H2U2, 33-334.


endophilin-A1 isoform 1 (human)

An endophilin-A1 isoform 1 that is encoded in the genome of human.


name: solute carrier family 13 member 2 isoform h1 (human)

description: A solute carrier family 13 member 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13183-1.


granzyme H

A leukocyte granule-associated proteinase that is a translation product of the human GZMH gene or a 1:1 ortholog thereof.


granzyme H isoform h3 (human)

A granzyme H (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P20718-3.


granzyme H isoform 1 (human)

A granzyme H isoform 1 that is encoded in the genome of human.


granzyme H isoform 1

A granzyme H that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P20718-1 or a 1:1 ortholog thereof.


name: granzyme H isoform 1, signal peptide removed form

description: A granzyme H isoform 1 that has had the signal peptide removed.


granzyme H isoform h2 (human)

A granzyme H (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P20718-2.


GRAH_HUMAN Granzyme H (sprot)

A granzyme H that is encoded in the genome of human.


name: A8WIQ2_DANRE Granzyme 3, tandem duplicate 1 (trembl)

description: A granzyme H that is encoded in the genome of zebrafish.


granzyme H proteolytic cleavage product

A granzyme H that has been processed by proteolytic cleavage.


granzyme H, signal peptide removed form

A granzyme H that has had the signal peptide removed.


name: combined oxidative phosphorylation defect type 9

description: Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V.


name: trifunctional purine biosynthetic protein adenosine-3 isoform Short (human)

description: A trifunctional purine biosynthetic protein adenosine-3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P22102-2.


name: zinc finger protein 638 isoform h2 (human)

description: A zinc finger protein 638 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q14966-2.


A 1-acyl-sn-glycero-3-phosphoethanolamine zwitterion obtained by transfer of a proton from the amino to the phosphate group of 1-stearoyl-sn-glycero-3-phosphoethanolamine.


septin-8 isoform h1 (human)

A septin-8 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q92599-1.


name: Rho-related GTP-binding protein RhoU phosphorylated 1 (human)

description: A Rho-related GTP-binding protein RhoU (human) that has been phosphorylated on the residue at the position equivalent to Tyr-254 of the amino acid sequence represented by UniProtKB:Q7L0Q8-1. Example: UniProtKB:Q7L0Q8-1, Tyr-254, MOD:00048.


name: RHOU_HUMAN Rho-related GTP-binding protein RhoU (sprot)

description: A Rho-related GTP-binding protein RhoU that is encoded in the genome of human.


name: Rho-related GTP-binding protein RhoU isoform h1 (human)

description: A Rho-related GTP-binding protein RhoU (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q7L0Q8-1.


name: Rho-related GTP-binding protein RhoU isoform h2 (human)

description: A Rho-related GTP-binding protein RhoU (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q7L0Q8-2.


name: Hyperinsulinism in the Infant of a Diabetic Mother

description: Transient hypoglycemia that occurs in the infant of a diabetic mother due to increased postnatal insulin release as a result of in utero exposure to maternal hyperglycemia.


A hydroxy fatty-acyl-CoA that results from the formal condensation of the thiol group of coenzyme A with the carboxy group of 2-hydroxyheptadecanoic acid


name: probable protein phosphatase 2C 65 isoform 1 (Arabidopsis thaliana)

description: A probable protein phosphatase 2C 65 (Arabidopsis thaliana) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6NKS1-1.


name: P2C65_ARATH Probable protein phosphatase 2C 65 (sprot)

description: A protein that is a translation product of the At5g01700 gene in Arabidopsis thaliana.


name: probable protein phosphatase 2C 65 isoform 2 (Arabidopsis thaliana)

description: A probable protein phosphatase 2C 65 (Arabidopsis thaliana) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6NKS1-2.


description: Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.


name: leucine-rich repeat-containing protein 31 isoform h1 (human)

description: A leucine-rich repeat-containing protein 31 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6UY01-1.


(S)-orciprenaline

A 5-[1-hydroxy-2-(isopropanylamino)ethyl]benzene-1,3-diol that is the (S)-enantiomer of orciprenaline.


orciprenaline

A racemate composed of equimolar amounts of (R)- and (S)-orciprenaline. Used (as its sulfate salt) to relax the airway muscles and improve breathing for patients suffering from asthma or bronchitis.


(R)-orciprenaline

A 5-[1-hydroxy-2-(isopropanylamino)ethyl]benzene-1,3-diol that is the (R)-enantiomer of orciprenaline.


TLE family member 5 isoform 1 (mouse)

A TLE family member 5 isoform 1 that is encoded in the genome of mouse.


IFNL2_HUMAN Interferon lambda-2 (sprot)

An interleukin-28A that is encoded in the genome of human.


name: interferon lambda-2, signal peptide removed form (human)

description: An interferon lambda-2 (human) that has had the signal peptide removed. UniProtKB:Q8IZJ0, 26-200.


name: Q54MM2_DICDI BTB/POZ domain-containing protein (trembl)

description: A BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 2 that is encoded in the genome of Dictyostelium discoideum.


name: complement factor H N-glycosylated 6 (human)

description: A complement factor H (human) that has been N-glycosylated at the residue equivalent to Asn-1029 of the amino acid sequence represented by UniProtKB:P08603-1, in which the glycan structure is represented by GlyTouCan:G51941GC. Example: UniProtKB:P08603-1, Asn-1029, MOD:00160~GNO:G51941GC.


Complete Hearing Loss

description: Total inability to hear sounds in one or both ears.


name: RNA-binding protein 41 isoform m3 (mouse)

description: An RNA-binding protein 41 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8JZV4-3.


name: RBM41_MOUSE RNA-binding protein 41 (sprot)

description: An RNA-binding protein 41 that is encoded in the genome of mouse.


name: RNA-binding protein 41 isoform 1 (mouse)

description: An RNA-binding protein 41 isoform 1 that is encoded in the genome of mouse.


name: RNA-binding protein 41 isoform m4 (mouse)

description: An RNA-binding protein 41 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8JZV4-4.


name: RNA-binding protein 41 isoform m2 (mouse)

description: An RNA-binding protein 41 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8JZV4-2.


sacsin cysteinylated 1 (human)

A sacsin (human) that has been cysteinylated on the residue at the position equivalent to Cys-3429 of the amino acid sequence represented by UniProtKB:Q9NZJ4-1. Example: UniProtKB:Q9NZJ4-1, Cys-3429, MOD:00765.


name: spermidine import across plasma membrane

description: The directed movement of spermidine from outside of a cell, across the plasma membrane and into the cytosol.


icosanoid transport

description: The directed movement of icosanoids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Icosanoids are unsaturated C20 fatty acids and skeletally related compounds.


folic acid transport

description: The directed movement of folic acid (pteroylglutamic acid) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Folic acid is widely distributed as a member of the vitamin B complex and is essential for the synthesis of purine and pyrimidines.


oligosaccharide transport

description: The directed movement of oligosaccharides into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Oligosaccharides are molecules with between two and (about) 20 monosaccharide residues connected by glycosidic linkages.


cortisol secretion

description: The regulated release of cortisol, a steroid hormone that in humans is the major circulating hormone of the cortex, or outer layer, of the adrenal gland.


name: (+)-abscisic acid D-glucopyranosyl ester transmembrane transport

description: The process in which (+)-abscisic acid D-glucopyranosyl este is transported across a membrane.


L-valine transmembrane transport

description: The directed movement of L-valine across a membrane.


glutathione transport

description: The directed movement of glutathione, the tripeptide glutamylcysteinylglycine, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.


name: neurotransmitter receptor transport postsynaptic membrane to endosome

description: Vesicle-mediated transport of a neurotransmitter receptor complex from the postsynaptic membrane to the postsynaptic early endosome.


acyl carnitine transport

description: The directed movement of acyl carnitine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Acyl carnitine is the condensation product of a carboxylic acid and carnitine and is the transport form for a fatty acid crossing the mitochondrial membrane.


extracellular amino acid transport

description: The directed extracellular movement of amino acids.


maltodextrin transmembrane transport

description: The directed movement of maltodextrin, any polysaccharide of glucose residues in beta-(1,4) linkage, across a membrane.


name: anterograde axonal transport of mitochondrion

description: The directed movement of mitochondria along microtubules in axons away from the cell body and towards the presynapse.


name: pantothenate import across plasma membrane

description: The directed movement of pantothenate from outside of a cell, across the plasma membrane and into the cytosol.


siderophore transmembrane transport

description: The directed movement of siderophores, low molecular weight Fe(III)-chelating substances, from one side of a membrane to the other, by means of some agent such as a transporter or pore.


zinc ion import into zymogen granule

description: The directed import of zinc(2+) from the cytosol, across an organelle membrane, into a zymogen granule.


nicotinamide mononucleotide transport

description: The directed movement of nicotinamide mononucleotide into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Nicotinamide mononucleotide is a ribonucleotide in which the nitrogenous base, nicotinamide, is in beta-n-glycosidic linkage with the c-1 position of D-ribose. It is a constituent of NAD and NADP.


name: mitochondrial manganese ion transmembrane transport

description: The process in which a manganese ion is transported across a mitochondrial membrane, into or out of the mitochondrion.


description: The regulated release of norepinephrine by a cell, in which the norepinephrine acts as a neurotransmitter.


intracellular transport

description: The directed movement of substances within a cell.


description: The directed movement of substances along cytoskeletal fibers such as microfilaments or microtubules within a cell.


fructose import across plasma membrane

description: The directed movement of fructose substance from outside of a cell, across the plasma membrane and into the cytosol.


name: hydrogen peroxide transmembrane transport

description: The process in which hydrogen peroxide is transported across a membrane.


neurotransmitter reuptake

description: The directed movement of neurotransmitter molecules from the extrasynaptic space into the presynaptic cytosol.


glutamine transport

description: The directed movement of glutamine, 2-amino-4-carbamoylbutanoic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.


taurine transmembrane transport

description: The directed movement of taurine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.


name: exocytic insertion of neurotransmitter receptor to postsynaptic membrane

description: The exocytic fusion of neurotransmitter receptor containing vesicles with the postsynaptic membrane resulting in the integration of NT receptors, enabling them to participate in neurotransmitter reception. This process includes tethering and docking steps that prepare vesicles for fusion.


dendritic transport of mitochondrion

description: The directed movement of mitochondria along microtubules in nerve cell dendrites.


description: A cellular transport process in which transported substances are moved in extracellular vesicles between cells; transported substances are enclosed in the vesicle lumen or located in the extracellular vesicle membrane.


actin filament-based transport

description: The transport of organelles or other particles from one location in the cell to another along actin filaments.


leukotriene transport

description: The directed movement of leukotrienes into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Leukotrienes are linear C20 endogenous metabolites of arachidonic acid (icosa-5,8,11,14-tetraenoic acid) containing a terminal carboxy function and four or more double bonds (three or more of which are conjugated) as well as other functional groups.


milk ejection reflex

description: A reflex that occurs in response to suckling, beginning with a nerve impulse from a receptor in the mammary gland and ending with the ejection of milk from the gland. Signaling never reaches a level of consciousness.


glycine import across plasma membrane

description: The directed movement of glycine from outside of a cell, across the plasma membrane and into the cytosol.


oligopeptide transport

description: The directed movement of oligopeptides into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Oligopeptides are molecules that contain a small number (2 to 20) of amino-acid residues connected by peptide linkages.


name: G protein-coupled receptor internalization

description: The process that results in the uptake of a G protein-coupled receptor into an endocytic vesicle.


amide transport

description: The directed movement of an amide, any compound containing one, two, or three acyl groups attached to a nitrogen atom, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.


octopamine secretion

description: The controlled release of octopamine by a cell.


thiamine import across plasma membrane

description: The directed movement of thiamine from outside of a cell, across the plasma membrane and into the cytosol.


name: L-arginine transmembrane import into vacuole

description: The directed movement of L-arginine into the vacuole across the vacuolar membrane.


Golgi vesicle transport

description: The directed movement of substances into, out of or within the Golgi apparatus, mediated by vesicles.


name: UDP-galactose transmembrane import into Golgi lumen

description: The directed movement of UDP-galactose into the Golgi lumen across the Golgi membrane.


name: positive regulation of signal transduction by receptor internalization

description: Any process in which the internalization of a signaling receptor activates or increases the frequency, rate or extent of signal transduction. Receptor internalization can enhance signaling by concentrating signaling molecules in one location, or by moving a ligand-activated receptor to the location of downstream signaling proteins. Endosomes for example can serve as important intracellular signaling platforms.


name: B cell receptor transport into immunological synapse

description: The directed movement of a B cell receptor into an immunological synapse.


methylammonium transmembrane transport

description: The process in which methylammonium is transported across a membrane.


arabinotriose transport

description: The directed movement of an arabinotrioseacetate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.


cGMP transport

description: The directed movement of cyclic GMP (cGMP), into, out of or within a cell.


name: energy coupled proton transmembrane transport, against electrochemical gradient

description: The transport of protons across a membrane and against an electrochemical gradient, using energy from a source such as ATP hydrolysis, light, or electron transport.


description: The regulated release of acetylcholine by a cell. The acetylcholine acts as a neurotransmitter that acts in both the peripheral nervous system (PNS) and central nervous system (CNS).


epinephrine transport

description: The directed movement of epinephrine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.


natural killer cell degranulation

description: The regulated exocytosis of secretory granules containing preformed mediators such as perforin and granzymes by a natural killer cell.


microtubule-based transport

description: A microtubule-based process that results in the transport of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules.


potassium ion transport

description: The directed movement of potassium ions (K+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.


name: nuclear migration involved in conjugation with mutual genetic exchange

description: The net movement of nuclei towards one another, leading to the bilateral transfer of genetic material in organisms undergoing conjugation without cellular fusion.


follicle-stimulating hormone secretion

description: The regulated release of follicle-stimulating hormone, a gonadotropic glycoprotein hormone secreted by the anterior pituitary.


peroxisomal transport

description: Transport of substances into, out of or within a peroxisome, a small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules.


name: isopentenyl pyrophosphate import into mitochondrion

description: The process in which isopentenyl pyrophosphate is transported across a membrane into the mitochondrion.


spermidine transmembrane transport

description: The process in which spermidine is transported across a membrane.


name: L-histidine transmembrane export from vacuole

description: The directed movement of L-histidine out of the vacuole, across the vacuolar membrane.


name: xenobiotic transport across blood-nerve barrier

description: The directed movement of a xenobiotic through the blood-nerve barrier.


name: guanine nucleotide transmembrane transport

description: The process in which a guanyl nucleotide is transported across a membrane.


choline transport

description: The directed movement of choline into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Choline (2-hydroxyethyltrimethylammonium) is an amino alcohol that occurs widely in living organisms as a constituent of certain types of phospholipids and in the neurotransmitter acetylcholine.


glutamine secretion

description: The controlled release of glutamine by a cell.


name: positive regulation of insulin receptor signaling pathway by insulin receptor internalization

description: Any process in which internalization of an insulin receptor activates or increases the frequency, rate or extent of the insulin receptor signaling pathway. Endocytosis of activated receptors can concentrate receptors within endosomes and allow the insulin receptor to phosphorylate substrates that are spatially distinct from those accessible at the plasma membrane.


aminophospholipid translocation

description: The movement of an aminophospholipid molecule from one leaflet of a membrane bilayer to the opposite leaflet.


name: L-glutamate import across plasma membrane

description: The directed movement of L-glutamate from outside of a cell, across the plasma membrane and into the cytosol.


ceramide translocation

description: The movement of a ceramide molecule from one leaflet of a membrane bilayer to the opposite leaflet.


methionine transport

description: The directed movement of methionine, 2-amino-4-(methylthio)butanoic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.


carbohydrate transport

description: The directed movement of carbohydrate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carbohydrates are a group of organic compounds based of the general formula Cx(H2O)y.