TRPV5 transient receptor potential cation channel, subfamily V, member 5 [Homo sapiens] - Gene

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Summary

Official Symbol: TRPV5provided by HGNC
Official Full Name: transient receptor potential cation channel, subfamily V, member 5provided by HGNC
Primary source: HGNC:3145
See related: Ensembl:ENSG00000127412; HPRD:05981; MIM:606679; Vega:OTTHUMG00000157157
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: CAT2; ECAC1; OTRPC3
Summary: This gene is a member of the transient receptor family and the TrpV subfamily. The calcium-selective channel encoded by this gene has 6 transmembrane-spanning domains, multiple potential phosphorylation sites, an N-linked glycosylation site, and 5 ANK repeats. This protein forms homotetramers or heterotetramers and is activated by a low internal calcium level. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 7q35

Sequence :: Chromosome: 7; NC_000007.13 (142605648..142630820, complement)

See TRPV5 in Epigenomics, MapViewer

Chromosome 7 - NC_000007.13 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

apically secreted tissue transglutaminase functions as an inhibitor of TRPV5 and thereby contributes to the regulation of body Ca2+ homeostasis.
Title: Tissue transglutaminase inhibits the TRPV5-dependent calcium transport in an N-glycosylation-dependent manner.
Data show that calmodulin negatively modulates TRPV5 activity, which is reversed by parathyroid hormone-mediated channel phosphorylation.
Title: Molecular mechanisms of calmodulin action on TRPV5 and modulation by parathyroid hormone.
Data show that TRPV5 and TRPV6 expression is decreased in PE.
Title: Alteration of calcium homeostasis in primary preeclamptic syncytiotrophoblasts: effect on calcium exchange in placenta.
A calmodulin binding site was located in the C-termini of TRPV2 (654-683) and TRPV5 (587-616).
Title: Characterization of calmodulin binding domains in TRPV2 and TRPV5 C-tails.
WNK4 and NHERF2 synergistically regulate TRPV5 by enhancing its forward trafficking and increasing its stability at plasma membrane, respectively.
Title: Concerted actions of NHERF2 and WNK4 in regulating TRPV5.
G(2)/M cell cycle arrest was preceded by activation of TRPV5/6-like nonselective cation channels in the plasma membrane resulting in an elevated Ca(2+) entry as evident from fura-2 Ca(2+) imaging.
Title: Non-selective cation channel-mediated Ca2+-entry and activation of Ca2+/calmodulin-dependent kinase II contribute to G2/M cell cycle arrest and survival of irradiated leukemia cells.
TRPV5 channel is susceptible for helix breaking mutations and the proximal intracellular region of TM5 of this channel plays an important role in Ca(2+)-dependent inactivation
Title: A helix-breaking mutation in the epithelial Ca(2+) channel TRPV5 leads to reduced Ca(2+)-dependent inactivation.
Findings suggest that TRPV-5 contributes to maintaining the homeostasis of the human skeleton via a negative feedback loop in RANKL-induced bone resorption.
Title: TRPV-5 mediates a receptor activator of NF-kappaB (RANK) ligand-induced increase in cytosolic Ca2+ in human osteoclasts and down-regulates bone resorption.
Retinal pigment epithelium expresses the epithelial calcium channels TRPV5 and TRPV6, the most calcium-selective channels of the TRP superfamily.
Title: Expression of transient receptor potential vanilloid channels TRPV5 and TRPV6 in retinal pigment epithelium.
Parathyroid hormone activates the cAMP-PKA signaling cascade, which rapidly phosphorylates threonine-709 of TRPV5, increasing the channel's open probability and promoting Ca(2+) reabsorption in the distal nephron.
Title: Parathyroid hormone activates TRPV5 via PKA-dependent phosphorylation.

Submit: New GeneRIF Correction See all (28)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
Q9NQA5	P05937	CALB1	HPRD	PubMed
Q9NQA5	Q01844	EWSR1	HPRD	PubMed
BioGRID:121137	BioGRID:106799	ANXA2	BioGRID	PubMed	Reconstituted Complex
BioGRID:121137	BioGRID:108431	EWSR1	BioGRID	PubMed	Two-hybrid
BioGRID:121137	BioGRID:112189	S100A10	BioGRID	PubMed	Reconstituted Complex; Two-hybrid

Function	Evidence Code	Pubs
calcium channel activity	ISS Inferred from Sequence or Structural Similarity more info
calmodulin binding	IEA Inferred from Electronic Annotation more info
ion channel activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
calcium ion transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
calcium ion transmembrane transport	TAS Traceable Author Statement more info	PubMed
calcium ion transport	ISS Inferred from Sequence or Structural Similarity more info
calcium ion transport	TAS Traceable Author Statement more info	PubMed
ion transport	IEA Inferred from Electronic Annotation more info
protein tetramerization	ISS Inferred from Sequence or Structural Similarity more info
transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
apical plasma membrane	IEA Inferred from Electronic Annotation more info
integral to plasma membrane	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: transient receptor potential cation channel subfamily V member 5

Names: transient receptor potential cation channel subfamily V member 5; ECaC; calcium transporter 2; osm-9-like TRP channel 3; calcium transport protein 2; epithelial calcium channel 1

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NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

NM_019841.4 → NP_062815.2 transient receptor potential cation channel subfamily V member 5

Status: REVIEWED

Source sequence(s)

AF304464

Consensus CDS

CCDS5875.1

UniProtKB/Swiss-Prot

Q9NQA5

Related

ENSP00000265310, OTTHUMP00000211572, ENST00000265310, OTTHUMT00000347660

Conserved Domains (2) summary

cd00204
Location:79 – 202
Blast Score: 198

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:2 – 685
Blast Score: 1801

trp; transient-receptor-potential calcium channel protein

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000007.13 Reference GRCh37.p5 Primary Assembly

Range

142605648..142630820, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh37.p5 PATCHES

Genomic

NW_003571040.1 Reference GRCh37.p5 PATCHES

Range

1111308..1136480, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000139.1 Alternate HuRef

Range

136943932..136969107, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CRA_TCAGchr7v2

Genomic

AC_000068.1 Alternate CRA_TCAGchr7v2

Range

142007517..142032689, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC073079.10 (578..23182)	None
genomic	AC099652.2	None
genomic	AJ401155.1	CAC08182.1
genomic	AY206695.1	AAO13488.1
genomic	CH236959.1	EAL23777.1
genomic	CH471198.2	EAW51896.1
mRNA	AF304464.1	AAL04015.1
mRNA	AJ271207.2	CAB96365.2
mRNA	AJ487965.2	CAD32312.2
mRNA	BC034740.1	AAH34740.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
Q8N4C1	GenPept	UniProtKB/TrEMBL:Q8N4C1
Q9H480	GenPept	UniProtKB/TrEMBL:Q9H480
Q9NQA5.2	GenPept	UniProtKB/Swiss-Prot:Q9NQA5