TRPV5

TRPV5
Identifiers
Aliases	TRPV5, CAT2, ECAC1, OTRPC3, transient receptor potential cation channel subfamily V member 5
External IDs	OMIM: 606679 MGI: 2429764 HomoloGene: 10520 GeneCards: TRPV5
Gene location (Human)
Chr.	Chromosome 7 (human)[1]
End	142,933,746 bp[1]
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)[2]
End	41,680,769 bp[2]
RNA expression pattern
	More reference expression data
Gene ontology
Molecular function	• ion channel activity; • GO:0001948 protein binding; • calmodulin binding; • metal ion binding; • calcium channel activity;
Cellular component	• integral component of membrane; • cell membrane; • integral component of plasma membrane; • membrane; • apical plasma membrane;
Biological process	• ion transport; • protein tetramerization; • calcium ion transport; • transmembrane transport; • regulation of urine volume; • calcium ion homeostasis; • calcium ion transmembrane transport; • calcium ion import across plasma membrane; • protein homotetramerization;
	Sources:Amigo / QuickGO
Orthologs
	56302
	194352
	ENSG00000274348; ENSG00000127412
	ENSMUSG00000036899
	Q9NQA5
	P69744
	NM_019841
	NM_001007572
	NP_062815
	NP_001007573
	Wikidata
View/Edit Human	View/Edit Mouse

Transient receptor potential cation channel subfamily V member 5 is a calcium channel protein that in humans is encoded by the TRPV5 gene.[5][6][7]

Function

The TRPV5 gene is a member of the transient receptor family and the TRPV subfamily. The calcium-selective channel, TRPV5, 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.[8]

Both TRPV5 and TRPV6 are expressed in kidney and intestinal epithelial cells.[9] TRPV5 is mainly expressed in kidney epithelial cells, where it plays an important role in the reabsorption of Ca²⁺,[10] whereas TRPV6 is mainly expressed in the intestine.[9] The enzyme α-klotho increases kidney calcium reabsorption by stabilizing TPRV5.[9] Klotho is a beta-glucuronidase-like enzyme that activates TRPV5 by removal of sialic acid.[11]

Clinical significance

Normally, about 95% to 98% of Ca²⁺ filtered from the blood by the kidney is reabsorbed by the kidney's renal tubule, mediated by TRPV5.[12] Genetic deletion of TRPV5 in mice leads to Ca²⁺ loss in the urine, and consequential hyperparathyroidism, and bone loss.[13]

Interactions

TRPV5 has been shown to interact with S100A10.[14]

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References

ENSG00000127412 GRCh38: Ensembl release 89: ENSG00000274348, ENSG00000127412 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000036899 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
Müller D, Hoenderop JG, Merkx GF, van Os CH, Bindels RJ (Sep 2000). "Gene structure and chromosomal mapping of human epithelial calcium channel". Biochem. Biophys. Res. Commun. 275 (1): 47–52. doi:10.1006/bbrc.2000.3227. PMID 10944439.
Müller D, Hoenderop JG, Meij IC, van den Heuvel LP, Knoers NV, den Hollander AI, Eggert P, García-Nieto V, Claverie-Martín F, Bindels RJ (Nov 2000). "Molecular cloning, tissue distribution, and chromosomal mapping of the human epithelial Ca2+ channel (ECAC1)". Genomics. 67 (1): 48–53. doi:10.1006/geno.2000.6203. PMID 10945469.
Clapham DE, Julius D, Montell C, Schultz G (Dec 2005). "International Union of Pharmacology. XLIX. Nomenclature and structure-function relationships of transient receptor potential channels". Pharmacol. Rev. 57 (4): 427–50. doi:10.1124/pr.57.4.6. PMID 16382100.
"Entrez Gene: TRPV5 transient receptor potential cation channel, subfamily V, member 5".
van Goor MK, Hoenderop JG, van der Wijst J (2017). "TRP channels in calcium homeostasis: from hormonal control to structure-function relationship of TRPV5 and TRPV6". Biochimica et Biophysica Acta. 1864 (6): 883–893. doi:10.1016/j.bbamcr.2016.11.027. PMID 27913205.
Hoenderop JG, Nilius B, Bindels RJ (2002). "Molecular mechanism of active Ca2+ reabsorption in the distal nephron". Annu. Rev. Physiol. 64: 529–49. doi:10.1146/annurev.physiol.64.081501.155921. PMID 11826278.
Cha SK, Ortega B, Kurosu H, Rosenblatt KP, Kuro-O M, Huang CL (2008). "Removal of sialic acid involving Klotho causes cell-surface retention of TRPV5 channel via binding to galectin-1". Proceedings of the National Academy of Sciences of the United States of America. 105 (28): 9805–9810. doi:10.1073/pnas.0803223105. PMC 2474477. PMID 18606998.
Wolf MT, An SW, Nie M, Bal MS, Huang CL (2014). "Klotho up-regulates renal calcium channel transient receptor potential vanilloid 5 (TRPV5) by intra- and extracellular N-glycosylation-dependent mechanisms". Journal of Biological Chemistry. 289 (52): 35849–57. doi:10.1074/jbc.M114.616649. PMC 4276853. PMID 25378396.
Hoenderop JG, van Leeuwen JP, van der Eerden BC, Kersten FF, van der Kemp AW, Mérillat AM, Waarsing JH, Rossier BC, Vallon V, Hummler E, Bindels RJ (2003). "Renal Ca2+ wasting, hyperabsorption, and reduced bone thickness in mice lacking TRPV5". J. Clin. Invest. 112 (12): 1906–14. doi:10.1172/JCI19826. PMC 297001. PMID 14679186.
van de Graaf SF, Hoenderop JG, Gkika D, Lamers D, Prenen J, Rescher U, Gerke V, Staub O, Nilius B, Bindels RJ (Apr 2003). "Functional expression of the epithelial Ca(2+) channels (TRPV5 and TRPV6) requires association of the S100A10-annexin 2 complex". EMBO J. 22 (7): 1478–87. doi:10.1093/emboj/cdg162. PMC 152906. PMID 12660155.

External links

TRPV5+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.

[refGRCh38Ensembl-1] ENSG00000127412 GRCh38: Ensembl release 89: ENSG00000274348, ENSG00000127412 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000036899 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10944439-5] Müller D, Hoenderop JG, Merkx GF, van Os CH, Bindels RJ (Sep 2000). "Gene structure and chromosomal mapping of human epithelial calcium channel". Biochem. Biophys. Res. Commun. 275 (1): 47–52. doi:10.1006/bbrc.2000.3227. PMID 10944439.

[pmid10945469-6] Müller D, Hoenderop JG, Meij IC, van den Heuvel LP, Knoers NV, den Hollander AI, Eggert P, García-Nieto V, Claverie-Martín F, Bindels RJ (Nov 2000). "Molecular cloning, tissue distribution, and chromosomal mapping of the human epithelial Ca2+ channel (ECAC1)". Genomics. 67 (1): 48–53. doi:10.1006/geno.2000.6203. PMID 10945469.

[pmid16382100-7] Clapham DE, Julius D, Montell C, Schultz G (Dec 2005). "International Union of Pharmacology. XLIX. Nomenclature and structure-function relationships of transient receptor potential channels". Pharmacol. Rev. 57 (4): 427–50. doi:10.1124/pr.57.4.6. PMID 16382100.

[8] "Entrez Gene: TRPV5 transient receptor potential cation channel, subfamily V, member 5".

[pmid27913205-9] van Goor MK, Hoenderop JG, van der Wijst J (2017). "TRP channels in calcium homeostasis: from hormonal control to structure-function relationship of TRPV5 and TRPV6". Biochimica et Biophysica Acta. 1864 (6): 883–893. doi:10.1016/j.bbamcr.2016.11.027. PMID 27913205.

[pmid11826278-10] Hoenderop JG, Nilius B, Bindels RJ (2002). "Molecular mechanism of active Ca2+ reabsorption in the distal nephron". Annu. Rev. Physiol. 64: 529–49. doi:10.1146/annurev.physiol.64.081501.155921. PMID 11826278.

[pmid18606998-11] Cha SK, Ortega B, Kurosu H, Rosenblatt KP, Kuro-O M, Huang CL (2008). "Removal of sialic acid involving Klotho causes cell-surface retention of TRPV5 channel via binding to galectin-1". Proceedings of the National Academy of Sciences of the United States of America. 105 (28): 9805–9810. doi:10.1073/pnas.0803223105. PMC 2474477. PMID 18606998.

[pmid25378396-12] Wolf MT, An SW, Nie M, Bal MS, Huang CL (2014). "Klotho up-regulates renal calcium channel transient receptor potential vanilloid 5 (TRPV5) by intra- and extracellular N-glycosylation-dependent mechanisms". Journal of Biological Chemistry. 289 (52): 35849–57. doi:10.1074/jbc.M114.616649. PMC 4276853. PMID 25378396.

[pmid14679186-13] Hoenderop JG, van Leeuwen JP, van der Eerden BC, Kersten FF, van der Kemp AW, Mérillat AM, Waarsing JH, Rossier BC, Vallon V, Hummler E, Bindels RJ (2003). "Renal Ca2+ wasting, hyperabsorption, and reduced bone thickness in mice lacking TRPV5". J. Clin. Invest. 112 (12): 1906–14. doi:10.1172/JCI19826. PMC 297001. PMID 14679186.

[pmid12660155-14] van de Graaf SF, Hoenderop JG, Gkika D, Lamers D, Prenen J, Rescher U, Gerke V, Staub O, Nilius B, Bindels RJ (Apr 2003). "Functional expression of the epithelial Ca(2+) channels (TRPV5 and TRPV6) requires association of the S100A10-annexin 2 complex". EMBO J. 22 (7): 1478–87. doi:10.1093/emboj/cdg162. PMC 152906. PMID 12660155.