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

Gene ID: 55503, updated on 27-Nov-2024

Summary

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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
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Genomic context

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See TRPV6 in Genome Data Viewer
Location:
7q34
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (142871208..142885745, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (144227023..144241552, complement)
RS_2024_09 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Derived (mutated)-types of TRPV6 channels elicit greater Ca²+ influx into the cells than ancestral-types of TRPV6: evidence from Xenopus oocytes and mammalian cell expression system. Sudo Y, et al. J Pharmacol Sci, 2010. PMID 20948163
  2. The role of TRPV6 in breast carcinogenesis. Bolanz KA, et al. Mol Cancer Ther, 2008 Feb. PMID 18245667
  3. Gain-of-function haplotype in the epithelial calcium channel TRPV6 is a risk factor for renal calcium stone formation. Suzuki Y, et al. Hum Mol Genet, 2008 Jun 1. PMID 18276610
  4. Parallel selection on TRPV6 in human populations. Hughes DA, et al. PLoS One, 2008 Feb 27. PMID 18301763, Free PMC Article
  5. Rapid effects of 17beta-estradiol on epithelial TRPV6 Ca2+ channel in human T84 colonic cells. Irnaten M, et al. Cell Calcium, 2008 Nov. PMID 18395250

See all (139) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. An overlooked African gene variant linked to the calcium selective channel TRPV6: A mini-review.
    Title: An overlooked African gene variant linked to the calcium selective channel TRPV6: A mini-review.
  2. The Coexistence of TRPV6 Variants With Other Pancreatitis-Associated Genes Affects Pediatric-Onset Pancreatitis.
    Title: The Coexistence of TRPV6 Variants With Other Pancreatitis-Associated Genes Affects Pediatric-Onset Pancreatitis.
  3. Biochemistry and pathophysiology of the Transient Potential Receptor Vanilloid 6 (TRPV6) calcium channel.
    Title: Biochemistry and pathophysiology of the Transient Potential Receptor Vanilloid 6 (TRPV6) calcium channel.
  4. Vital but vulnerable: Human TRPV6 is a trade-off of powerful Ca(2+) uptake and susceptibility to epithelial barrier dysfunction.
    Title: Vital but vulnerable: Human TRPV6 is a trade-off of powerful Ca(2+) uptake and susceptibility to epithelial barrier dysfunction.
  5. TRPV6 Regulation by Cis-22a and Cholesterol.
    Title: TRPV6 Regulation by Cis-22a and Cholesterol.
  6. TRPV6 channel mediates alcohol-induced gut barrier dysfunction and systemic response.
    Title: TRPV6 channel mediates alcohol-induced gut barrier dysfunction and systemic response.
  7. Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis.
    Title: Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis.
  8. Down-regulation of TRPV6 Is Associated With Adverse Prognosis in Hepatocellular Carcinoma Treated With Curative Resection.
    Title: Down-regulation of TRPV6 Is Associated With Adverse Prognosis in Hepatocellular Carcinoma Treated With Curative Resection.
  9. Loss of function TRPV6 variants are associated with chronic pancreatitis in nonalcoholic early-onset Polish and German patients.
    Title: Loss of function TRPV6 variants are associated with chronic pancreatitis in nonalcoholic early-onset Polish and German patients.
  10. Calcium selective channel TRPV6: Structure, function, and implications in health and disease.
    Title: Calcium selective channel TRPV6: Structure, function, and implications in health and disease.
Submit: New GeneRIF Correction See all GeneRIFs (113)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Hyperparathyroidism, transient neonatal
MedGen: C1300287 OMIM: 618188 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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

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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)

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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_018646.6 → NP_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:119 → 242
    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:52 → 698
    trp; transient-receptor-potential calcium channel protein
    sd00045
    Location:156 → 187
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H1D0.3 GenPept UniProtKB/Swiss-Prot:Q9H1D0

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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