Homo sapiens Protein: TRPV3 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-17123.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | TRPV3 | ||||||||||||||||||
Protein Name | transient receptor potential cation channel, subfamily V, member 3 | ||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000301365 | ||||||||||||||||||
InnateDB Gene | IDBG-17119 (TRPV3) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
Function | Putative receptor-activated non-selective calcium permeant cation channel. It is activated by innocuous (warm) temperatures and shows an increased response at noxious temperatures greater than 39 degrees Celsius. Activation exhibits an outward rectification. May associate with TRPV1 and may modulate its activity. Is a negative regulator of hair growth and cycling: TRPV3-coupled signaling suppresses keratinocyte proliferation in hair follicles and induces apoptosis and premature hair follicle regression (catagen). {ECO:0000269PubMed:12077604, ECO:0000269PubMed:12077606, ECO:0000269PubMed:21593771}. | ||||||||||||||||||
Subcellular Localization | Membrane; Multi-pass membrane protein. | ||||||||||||||||||
Disease Associations | Olmsted syndrome (OLMS) [MIM:614594]: A rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe itching at all lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas. The digital constriction may progress to autoamputation of fingers and toes. {ECO:0000269PubMed:22405088, ECO:0000269PubMed:22835024}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | Abundantly expressed in CNS. Widely expressed at low levels. Detected in dorsal root ganglion (at protein level). Expressed in the keratinocyte layers of the outer root sheath and, to lesser extent, to the matrix of the hair follicles (at protein level). {ECO:0000269PubMed:12077604, ECO:0000269PubMed:12077606, ECO:0000269PubMed:21593771}. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR002110
Ankyrin repeat IPR008347 Transient receptor potential channel, vanilloid 1-4 IPR020683 Ankyrin repeat-containing domain |
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PFAM |
PF00023
PF13606 PF11929 PF12796 |
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PRINTS |
PR01415
PR01768 |
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PIRSF | |||||||||||||||||||
SMART |
SM00248
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q8NET8 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q8NET8 | ||||||||||||||||||
TrEMBL | |||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 162514 | ||||||||||||||||||
UniGene | Hs.619949 | ||||||||||||||||||
RefSeq | NP_001245134 | ||||||||||||||||||
HUGO | HGNC:18084 | ||||||||||||||||||
OMIM | 607066 | ||||||||||||||||||
CCDS | CCDS58500 | ||||||||||||||||||
HPRD | 06141 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AF514998 AJ487035 AY118267 AY118268 | ||||||||||||||||||
GenPept | AAM54027 AAM80558 AAM80559 CAD31711 | ||||||||||||||||||