InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TRPV3

Summary

InnateDB Protein

IDBP-761758.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TRPV3

Protein Name

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000461518

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.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005262	calcium channel activity
GO:0005515	protein binding

Biological Process

GO:0034220	ion transmembrane transport
GO:0042636	negative regulation of hair cycle
GO:0055085	transmembrane transport
GO:0070588	calcium ion transmembrane transport