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    TRPV3 transient receptor potential cation channel subfamily V member 3 [ Homo sapiens (human) ]

    Gene ID: 162514, updated on 12-Mar-2017
    Official Symbol
    TRPV3provided by HGNC
    Official Full Name
    transient receptor potential cation channel subfamily V member 3provided by HGNC
    Primary source
    HGNC:HGNC:18084
    See related
    Ensembl:ENSG00000167723 MIM:607066; Vega:OTTHUMG00000090695
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OLMS; VRL3; FNEPPK2
    Summary
    This gene product belongs to a family of nonselective cation channels that function in a variety of processes, including temperature sensation and vasoregulation. The thermosensitive members of this family are expressed in subsets of sensory neurons that terminate in the skin, and are activated at distinct physiological temperatures. This channel is activated at temperatures between 22 and 40 degrees C. This gene lies in close proximity to another family member gene on chromosome 17, and the two encoded proteins are thought to associate with each other to form heteromeric channels. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
    Orthologs
    Location:
    17p13.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (3510502..3557995, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (3413796..3461289, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 1 subfamily E member 2 Neighboring gene spermatogenesis associated 22 Neighboring gene aspartoacylase Neighboring gene transient receptor potential cation channel subfamily V member 1 Neighboring gene pterin-4 alpha-carbinolamine dehydratase 2 pseudogene Neighboring gene sedoheptulokinase

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Inflammatory mediator regulation of TRP channels, organism-specific biosystem (from KEGG)
      Inflammatory mediator regulation of TRP channels, organism-specific biosystemThe TRP channels that exhibit a unique response to temperature have been given the name thermo-TRPs. Among all thermo- TRP channels, TRPV1-4, TRPM8, and TRPA1 are expressed in subsets of nociceptive...
    • Inflammatory mediator regulation of TRP channels, conserved biosystem (from KEGG)
      Inflammatory mediator regulation of TRP channels, conserved biosystemThe TRP channels that exhibit a unique response to temperature have been given the name thermo-TRPs. Among all thermo- TRP channels, TRPV1-4, TRPM8, and TRPA1 are expressed in subsets of nociceptive...
    • Ion channel transport, organism-specific biosystem (from REACTOME)
      Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
    • Stimuli-sensing channels, organism-specific biosystem (from REACTOME)
      Stimuli-sensing channels, organism-specific biosystemIon channels that mediate sensations such as pain, warmth, cold, taste pressure and vision. Channels that mediate these sensations include acid-sensing ion channels (ASICs) (Wang & Xu 2011, Qadri et ...
    • TRP channels, organism-specific biosystem (from REACTOME)
      TRP channels, organism-specific biosystemTransient receptor potential (TRP) channel proteins were first discovered in Drosophila melanogaster and have many homologues in other species including humans. TRPs form cationic channels that can ...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    calcium channel activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    calcium ion transmembrane transport TAS
    Traceable Author Statement
    more info
     
    negative regulation of hair cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of calcium ion import IEA
    Inferred from Electronic Annotation
    more info
     
    response to heat IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    transient receptor potential cation channel subfamily V member 3
    Names
    VRL-3
    vanilloid receptor-like 3
    vanilloid receptor-related osmotically activated channel protein

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_032144.2 RefSeqGene

      Range
      5001..52494
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001258205.1NP_001245134.1  transient receptor potential cation channel subfamily V member 3 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
      Source sequence(s)
      AC025125, AC027796, BX537539, EU295940
      Consensus CDS
      CCDS58500.1
      UniProtKB/TrEMBL
      B2KYM6
      Related
      ENSP00000301365, OTTHUMP00000257334, ENST00000301365, OTTHUMT00000438245
      Conserved Domains (4) summary
      cd00204
      Location:213361
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam00520
      Location:517689
      Ion_trans; Ion transport protein
      pfam12796
      Location:266366
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:214245
      ANK; ANK repeat [structural motif]
    2. NM_145068.3NP_659505.1  transient receptor potential cation channel subfamily V member 3 isoform 2

      See identical proteins and their annotated locations for NP_659505.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
      Source sequence(s)
      AC025125, AC027796, AF514998, BX537539
      Consensus CDS
      CCDS11029.1
      UniProtKB/Swiss-Prot
      Q8NET8
      Related
      ENSP00000461518, OTTHUMP00000115863, ENST00000576742, OTTHUMT00000207379
      Conserved Domains (4) summary
      cd00204
      Location:213361
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam00520
      Location:517689
      Ion_trans; Ion transport protein
      pfam12796
      Location:266366
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:214245
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      3510502..3557995 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      3424206..3472113 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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