T3DB: Transient receptor potential cation channel subfamily V member 3

Name	Transient receptor potential cation channel subfamily V member 3
Synonyms	TrpV3 Vanilloid receptor-like 3 VRL-3
Gene Name	TRPV3
Organism	Human
Amino acid sequence	>lcl\|BSEQ0006666\|Transient receptor potential cation channel subfamily V member 3 MKAHPKEMVPLMGKRVAAPSGNPAILPEKRPAEITPTKKSAHFFLEIEGFEPNPTVAKTS PPVFSKPMDSNIRQCISGNCDDMDSPQSPQDDVTETPSNPNSPSAQLAKEEQRRKKRRLK KRIFAAVSEGCVEELVELLVELQELCRRRHDEDVPDFLMHKLTASDTGKTCLMKALLNIN PNTKEIVRILLAFAEENDILGRFINAEYTEEAYEGQTALNIAIERRQGDIAALLIAAGAD VNAHAKGAFFNPKYQHEGFYFGETPLALAACTNQPEIVQLLMEHEQTDITSRDSRGNNIL HALVTVAEDFKTQNDFVKRMYDMILLRSGNWELETTRNNDGLTPLQLAAKMGKAEILKYI LSREIKEKRLRSLSRKFTDWAYGPVSSSLYDLTNVDTTTDNSVLEITVYNTNIDNRHEML TLEPLHTLLHMKWKKFAKHMFFLSFCFYFFYNITLTLVSYYRPREEEAIPHPLALTHKMG WLQLLGRMFVLIWAMCISVKEGIAIFLLRPSDLQSILSDAWFHFVFFIQAVLVILSVFLY LFAYKEYLACLVLAMALGWANMLYYTRGFQSMGMYSVMIQKVILHDVLKFLFVYIVFLLG FGVALASLIEKCPKDNKDCSSYGSFSDAVLELFKLTIGLGDLNIQQNSKYPILFLFLLIT YVILTFVLLLNMLIALMGETVENVSKESERIWRLQRARTILEFEKMLPEWLRSRFRMGEL CKVAEDDFRLCLRINEVKWTEWKTHVSFLNEDPGPVRRTDFNKIQDSSRNNSKTTLNAFE EVEEFPETSV
Number of residues	790
Molecular Weight	90635.115
Theoretical pI	6.56
GO Classification	Functions calcium channel activity Processes transmembrane transport ion transmembrane transport calcium ion transmembrane transport positive regulation of calcium ion import response to heat negative regulation of hair cycle Components integral component of membrane plasma membrane receptor complex
General Function	Calcium channel activity
Specific 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).
Pfam Domain Function	Ion_trans (PF00520 ) Ank_2 (PF12796 )
Transmembrane Regions	440-460 488-508 524-544 546-566 590-610 650-670
GenBank Protein ID	Not Available
UniProtKB ID	Q8NET8
UniProtKB Entry Name	TRPV3_HUMAN
Cellular Location	Membrane
Gene sequence	>lcl\|BSEQ0006665\|2373 bp ATGAAAGCCCACCCCAAGGAGATGGTGCCTCTCATGGGCAAGAGAGTTGCTGCCCCCAGT GGGAACCCTGCCGTCCTGCCAGAGAAGAGGCCGGCGGAGATCACCCCCACAAAGAAGAGT GCACACTTCTTCCTGGAGATAGAAGGGTTTGAACCCAACCCCACAGTTGCCAAGACCTCT CCTCCTGTCTTCTCCAAGCCCATGGATTCCAACATCCGGCAGTGCATCTCTGGTAACTGT GATGACATGGACTCCCCCCAGTCTCCTCAGGATGATGTGACAGAGACCCCATCCAATCCC AACAGCCCCAGTGCACAGCTGGCCAAGGAAGAGCAGAGGAGGAAAAAGGGGCGGCTGAAG AAGCGCATCTTTGCAGCCGTGTCTGAGGGCTGCGTGGAGGAGTTGGTAGAGTTGCTGGTG GAGCTGCAGGAGCTTTGCAGGCGGCGCCATGATGAGGATGTGCCTGACTTCCTCATGCAC AAGCTGACGGCCTCCGACACGGGGAAGACCTGCCTGATGAAGGCCTTGTTAAACATCAAC CCCAACACCAAGGAGATAGTGCGGATCCTGCTTGCCTTTGCTGAAGAGAACGACATCCTG GGCAGGTTCATCAACGCCGAGTACACAGAGGAGGCCTATGAAGGGCAGACGGCGCTGAAC ATCGCCATCGAGCGGCGGCAGGGGGACATCGCAGCCCTGCTCATCGCCGCCGGCGCCGAC GTCAACGCGCACGCCAAGGGGGCCTTCTTCAACCCCAAGTACCAACACGAAGGCTTCTAC TTCGGTGAGACGCCCCTGGCCCTGGCAGCATGCACCAACCAGCCCGAGATTGTGCAGCTG CTGATGGAGCACGAGCAGACGGACATCACCTCGCGGGACTCACGAGGCAACAACATCCTT CACGCCCTGGTGACCGTGGCCGAGGACTTCAAGACACAGAATGACTTTGTGAAGCGCATG TACGACATGATCCTACTGCGGAGTGGCAACTGGGAGCTGGAGACCACTCGCAACAACGAT GGCCTCACGCCGCTGCAGCTGGCCGCCAAGATGGGCAAGGCGGAGATCCTGAAGTACATC CTCAGTCGTGAGATCAAGGAGAAGCGGCTCCGGAGCCTGTCCAGGAAGTTCACCGACTGG GCGTACGGACCCGTGTCATCCTCCCTCTACGACCTCACCAACGTGGACACCACCACGGAC AACTCAGTGCTGGAAATCACTGTCTACAACACCAACATCGACAACCGGCATGAGATGCTG ACCCTGGAGCCGCTGCACACGCTGCTGCATATGAAGTGGAAGAAGTTTGCCAAGCACATG TTCTTTCTGTCCTTCTGCTTTTATTTCTTCTACAACATCACCCTGACCCTCGTCTCGTAC TACCGCCCCCGGGAGGAGGAGGCCATCCCGCACCCCTTGGCCCTGACGCACAAGATGGGG TGGCTGCAGCTCCTAGGGAGGATGTTTGTGCTCATCTGGGCCATGTGCATCTCTGTGAAA GAGGGCATTGCCATCTTCCTGCTGAGACCCTCGGATCTGCAGTCCATCCTCTCGGATGCC TGGTTCCACTTTGTCTTTTTTATCCAAGCTGTGCTTGTGATACTGTCTGTCTTCTTGTAC TTGTTTGCCTACAAAGAGTACCTCGCCTGCCTCGTGCTGGCCATGGCCCTGGGCTGGGCG AACATGCTCTACTATACGCGGGGTTTCCAGTCCATGGGCATGTACAGCGTCATGATCCAG AAGGTTATTTTGCATGATGTTCTGAAGTTCTTGTTTGTATATATCGTGTTTTTGCTTGGA TTTGGAGTAGCCTTGGCCTCGCTGATCGAGAAGTGTCCCAAAGACAACAAGGACTGCAGC TCCTACGGCAGCTTCAGCGACGCAGTGCTGGAACTCTTCAAGCTCACCATAGGCCTGGGT GATCTGAACATCCAGCAGAACTCCAAGTATCCCATTCTCTTTCTGTTCCTGCTCATCACC TATGTCATCCTCACCTTTGTTCTCCTCCTCAACATGCTCATTGCTCTGATGGGCGAGACT GTGGAGAACGTCTCCAAGGAGAGCGAACGCATCTGGCGCCTGCAGAGAGCCAGGACCATC TTGGAGTTTGAGAAAATGTTACCAGAATGGCTGAGGAGCAGATTCCGGATGGGAGAGCTG TGCAAAGTGGCCGAGGATGATTTCCGACTGTGTTTGCGGATCAATGAGGTGAAGTGGACT GAATGGAAGACGCACGTCTCCTTCCTTAACGAAGACCCGGGGCCTGTAAGACGAACAGAT TTCAACAAAATCCAAGATTCTTCCAGGAACAACAGCAAAACCACTCTCAATGCATTTGAA GAAGTCGAGGAATTCCCGGAAACCTCGGTGTAG
GenBank Gene ID	AJ487035
GeneCard ID	Not Available
GenAtlas ID	TRPV3
HGNC ID	HGNC:18084
Chromosome Location	Not Available
Locus	17p13.3
References	Smith GD, Gunthorpe MJ, Kelsell RE, Hayes PD, Reilly P, Facer P, Wright JE, Jerman JC, Walhin JP, Ooi L, Egerton J, Charles KJ, Smart D, Randall AD, Anand P, Davis JB: TRPV3 is a temperature-sensitive vanilloid receptor-like protein. Nature. 2002 Jul 11;418(6894):186-90. Epub 2002 Jun 23. 12077606 Xu H, Ramsey IS, Kotecha SA, Moran MM, Chong JA, Lawson D, Ge P, Lilly J, Silos-Santiago I, Xie Y, DiStefano PS, Curtis R, Clapham DE: TRPV3 is a calcium-permeable temperature-sensitive cation channel. Nature. 2002 Jul 11;418(6894):181-6. Epub 2002 Jun 23. 12077604 Borbiro I, Lisztes E, Toth BI, Czifra G, Olah A, Szollosi AG, Szentandrassy N, Nanasi PP, Peter Z, Paus R, Kovacs L, Biro T: Activation of transient receptor potential vanilloid-3 inhibits human hair growth. J Invest Dermatol. 2011 Aug;131(8):1605-14. doi: 10.1038/jid.2011.122. Epub 2011 May 19. 21593771 He Y, Zeng K, Zhang X, Chen Q, Wu J, Li H, Zhou Y, Glusman G, Roach J, Etheridge A, Qing S, Tian Q, Lee I, Tian X, Wang X, Wu Z, Hood L, Ding Y, Wang K: A gain-of-function mutation in TRPV3 causes focal palmoplantar keratoderma in a Chinese family. J Invest Dermatol. 2015 Mar;135(3):907-9. doi: 10.1038/jid.2014.429. Epub 2014 Oct 6. 25285920 Lin Z, Chen Q, Lee M, Cao X, Zhang J, Ma D, Chen L, Hu X, Wang H, Wang X, Zhang P, Liu X, Guan L, Tang Y, Yang H, Tu P, Bu D, Zhu X, Wang K, Li R, Yang Y: Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome. Am J Hum Genet. 2012 Mar 9;90(3):558-64. doi: 10.1016/j.ajhg.2012.02.006. 22405088 Lai-Cheong JE, Sethuraman G, Ramam M, Stone K, Simpson MA, McGrath JA: Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome. Br J Dermatol. 2012 Aug;167(2):440-2. doi: 10.1111/j.1365-2133.2012.11115.x. 22835024