PKD2L1

PKD2L1
Identifiers
Aliases	PKD2L1, PCL, PKD2L, PKDL, TRPP3, polycystin 2 like 1, transient receptor potential cation channel
External IDs	OMIM: 604532; MGI: 1352448; GeneCards: PKD2L1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3TE3, 4GIF
Gene location (Human)
Chr.	Chromosome 10 (human)
End	100,330,264 bp
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)
End	44,180,881 bp
RNA expression pattern
	Top expressed in
	spleen; ; right frontal lobe; ; Brodmann area 9; ; sperm; ; glomerulus; ; right lung; ; anterior cingulate cortex; ; prefrontal cortex; ; placenta; ; mononuclear cell;
	Top expressed in
	lumbar subsegment of spinal cord; ; spermatocyte; ; seminiferous tubule; ; embryo; ; embryo; ; anterior horn of spinal cord; ; tongue; ; vallate papilla; ; gastrula; ; spermatid;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	calcium ion binding; calcium activated cation channel activity; muscle alpha-actinin binding; calcium channel activity; cation transmembrane transporter activity; calcium-activated potassium channel activity; sodium channel activity; cytoskeletal protein binding; protein binding; alpha-actinin binding; cation channel activity; identical protein binding; sour taste receptor activity;
Cellular component	integral component of membrane; cell projection; calcium channel complex; membrane; intracellular membrane-bounded organelle; receptor complex; plasma membrane; cilium; cell surface; endoplasmic reticulum; ciliary membrane; cation channel complex; non-motile cilium; integral component of plasma membrane; cytoplasmic vesicle;
Biological process	sodium ion transmembrane transport; cellular response to acidic pH; cation transport; sensory perception of sour taste; ion transport; protein homotrimerization; calcium ion transmembrane transport; detection of mechanical stimulus; potassium ion transmembrane transport; smoothened signaling pathway; detection of chemical stimulus involved in sensory perception of sour taste; calcium ion transport; response to water; detection of chemical stimulus involved in sensory perception of taste; protein tetramerization; protein homotetramerization; cellular response to pH; inorganic cation transmembrane transport;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	9033
	329064
	ENSG00000107593
	ENSMUSG00000037578
	Q9P0L9
	A2A259
	NM_001253837; NM_016112
	NM_181422
	NP_001240766; NP_057196
	NP_852087
	Wikidata
View/Edit Human	View/Edit Mouse

Polycystic kidney disease 2-like 1 protein also known as transient receptor potential polycystic 3 (TRPP3) is a protein that in humans is encoded by the PKD2L1 gene.

Function

PKD2L1 is a member of the polycystin protein family. PKD2L1 contains multiple transmembrane domains, and cytoplasmic N- and C-termini. PKD2L1 may be an integral membrane protein involved in cell-cell/matrix interactions. PKD2L1 functions as a calcium-regulated nonselective cation channel. Alternative splice variants have been described but their full length sequences have not been determined.

Interactions

PKD2L1 has been shown to interact with TNNI3.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000107593 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000037578 – 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.
1 2 "Entrez Gene: PKD2L1 polycystic kidney disease 2-like 1".
↑ Li Q, Liu Y, Shen PY, Dai XQ, Wang S, Smillie LB, Sandford R, Chen XZ (June 2003). "Troponin I binds polycystin-L and inhibits its calcium-induced channel activation". Biochemistry. 42 (24): 7618–25. doi:10.1021/bi034210a. PMID 12809519.

Geng L, Okuhara D, Yu Z, et al. (2006). "Polycystin-2 traffics to cilia independently of polycystin-1 by using an N-terminal RVxP motif". J. Cell Sci. 119 (Pt 7): 1383–95. doi:10.1242/jcs.02818. PMID 16537653.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Li Q, Liu Y, Shen PY, et al. (2003). "Troponin I binds polycystin-L and inhibits its calcium-induced channel activation". Biochemistry. 42 (24): 7618–25. doi:10.1021/bi034210a. PMID 12809519.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Li Q, Liu Y, Zhao W, Chen XZ (2002). "The calcium-binding EF-hand in polycystin-L is not a domain for channel activation and ensuing inactivation". FEBS Lett. 516 (1–3): 270–8. doi:10.1016/S0014-5793(02)02513-9. PMID 11959145. S2CID 1812119.
Basora N, Nomura H, Berger UV, et al. (2002). "Tissue and cellular localization of a novel polycystic kidney disease-like gene product, polycystin-L". J. Am. Soc. Nephrol. 13 (2): 293–301. doi:10.1681/ASN.V132293. PMID 11805156.
Stayner C, Zhou J (2001). "Polycystin channels and kidney disease". Trends Pharmacol. Sci. 22 (11): 543–6. doi:10.1016/S0165-6147(00)01832-0. PMID 11698076.
Guo L, Chen M, Basora N, Zhou J (2000). "The human polycystic kidney disease 2-like (PKDL) gene: exon/intron structure and evidence for a novel splicing mechanism". Mamm. Genome. 11 (1): 46–50. doi:10.1007/s003350010009. PMID 10602992. S2CID 27177354.
Veldhuisen B, Spruit L, Dauwerse HG, et al. (2000). "Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2)". Eur. J. Hum. Genet. 7 (8): 860–72. doi:10.1038/sj.ejhg.5200383. PMID 10602361.
Chen XZ, Vassilev PM, Basora N, et al. (1999). "Polycystin-L is a calcium-regulated cation channel permeable to calcium ions". Nature. 401 (6751): 383–6. doi:10.1038/43907. PMID 10517637. S2CID 4412921.
Tsiokas L, Arnould T, Zhu C, et al. (1999). "Specific association of the gene product of PKD2 with the TRPC1 channel". Proc. Natl. Acad. Sci. U.S.A. 96 (7): 3934–9. Bibcode:1999PNAS...96.3934T. doi:10.1073/pnas.96.7.3934. PMC 22398. PMID 10097141.
Wu G, Hayashi T, Park JH, et al. (1999). "Identification of PKD2L, a human PKD2-related gene: tissue-specific expression and mapping to chromosome 10q25". Genomics. 54 (3): 564–8. doi:10.1006/geno.1998.5618. PMID 9878261.
Nomura H, Turco AE, Pei Y, et al. (1998). "Identification of PKDL, a novel polycystic kidney disease 2-like gene whose murine homologue is deleted in mice with kidney and retinal defects". J. Biol. Chem. 273 (40): 25967–73. doi:10.1074/jbc.273.40.25967. PMID 9748274.

This article on a gene on human chromosome 10 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000107593 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000037578 – 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.

[entrez-5] 1 2 "Entrez Gene: PKD2L1 polycystic kidney disease 2-like 1".

[pmid12809519-6] Li Q, Liu Y, Shen PY, Dai XQ, Wang S, Smillie LB, Sandford R, Chen XZ (June 2003). "Troponin I binds polycystin-L and inhibits its calcium-induced channel activation". Biochemistry. 42 (24): 7618–25. doi:10.1021/bi034210a. PMID 12809519.

PKD2L1

Function

Interactions

See also

References

Further reading