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    TRPV6 transient receptor potential cation channel subfamily V member 6 [ Homo sapiens (human) ]

    Gene ID: 55503, updated on 5-Mar-2024

    Summary

    Official Symbol
    TRPV6provided by HGNC
    Official Full Name
    transient receptor potential cation channel subfamily V member 6provided by HGNC
    Primary source
    HGNC:HGNC:14006
    See related
    Ensembl:ENSG00000165125 MIM:606680; AllianceGenome:HGNC:14006
    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
    CAT1; CATL; ZFAB; ECAC2; ABP/ZF; HRPTTN; LP6728; HSA277909
    Summary
    This gene encodes a member of a family of multipass membrane proteins that functions as calcium channels. The encoded protein contains N-terminal ankyrin repeats, which are required for channel assembly and regulation. Translation initiation for this protein occurs at a non-AUG start codon that is decoded as methionine. This gene is situated next to a closely related gene for transient receptor potential cation channel subfamily V member 5 (TRPV5). This locus has experienced positive selection in non-African populations, resulting in several non-synonymous codon differences among individuals of different genetic backgrounds. [provided by RefSeq, Feb 2015]
    Expression
    Biased expression in prostate (RPKM 26.0), salivary gland (RPKM 21.3) and 9 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TRPV6 in Genome Data Viewer
    Location:
    7q34
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (142871208..142885745, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (144227023..144241552, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (142568961..142583490, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375541 Neighboring gene CRISPRi-validated cis-regulatory element chr7.5168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:142564181-142564714 Neighboring gene EPH receptor B6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:142564989-142565924 Neighboring gene Sharpr-MPRA regulatory region 15349 Neighboring gene MPRA-validated peak6804 silencer Neighboring gene transient receptor potential cation channel subfamily V member 5 Neighboring gene uncharacterized LOC105375542

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of transient receptor potential cation channel, subfamily V, member 6 (TRPV6) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables calcium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables calcium channel activity TAS
    Traceable Author Statement
    more info
     
    enables calmodulin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in calcium ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in calcium ion import across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in calcium ion import across plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in calcium ion import across plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in calcium ion import across plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in calcium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in calcium ion transmembrane transport TAS
    Traceable Author Statement
    more info
     
    involved_in calcium ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in calcium ion transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in calcium ion transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in parathyroid hormone secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of calcium ion-dependent exocytosis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in response to calcium ion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    part_of calcium channel complex IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    transient receptor potential cation channel subfamily V member 6
    Names
    Alu-binding protein with zinc finger domain
    calcium transport protein 1
    calcium transporter-like protein
    epithelial apical membrane calcium transporter/channel CaT1
    epithelial calcium channel 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_050669.2 RefSeqGene

      Range
      5000..19537
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_018646.6NP_061116.5  transient receptor potential cation channel subfamily V member 6

      See identical proteins and their annotated locations for NP_061116.5

      Status: REVIEWED

      Source sequence(s)
      AC245427
      Consensus CDS
      CCDS5874.2
      UniProtKB/Swiss-Prot
      A4D2I8, Q8TDL3, Q8WXR8, Q96LC5, Q9H1D0, Q9H1D1, Q9H296
      UniProtKB/TrEMBL
      A0A1X7SBT1
      Related
      ENSP00000352358.5, ENST00000359396.9
      Conserved Domains (3) summary
      cd00204
      Location:119242
      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 ...
      TIGR00870
      Location:52698
      trp; transient-receptor-potential calcium channel protein
      sd00045
      Location:156187
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      142871208..142885745 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187562.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      894250..908785 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      144227023..144241552 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_014274.3: Suppressed sequence

      Description
      NM_014274.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.