PKD2L1

PKD2L1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3TE3, 4GIF
Identifiers
Aliases	PKD2L1, PCL, PKD2L, PKDL, TRPP3, polycystin 2 like 1, transient receptor potential cation channel
External IDs	OMIM: 604532 MGI: 1352448 HomoloGene: 22946 GeneCards: PKD2L1
Gene location (Human)
Chr.	Chromosome 10 (human)[1]
End	100,330,264 bp[1]
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)[2]
End	44,192,442 bp[2]
RNA expression pattern
	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; • GO:0001948 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; • cell 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
	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.[5]

Function

TRPP3 is a member of the polycystin protein family. TRPP3 contains multiple transmembrane domains, and cytoplasmic N- and C-termini. TRPP3 may be an integral membrane protein involved in cell-cell/matrix interactions. TRPP3 functions as a calcium-regulated nonselective cation channel. Alternative splice variants have been described but their full length sequences have not been determined.[5]

Interactions

PKD2L1 has been shown to interact with TNNI3.[6]

References

GRCh38: Ensembl release 89: ENSG00000107593 - Ensembl, May 2017
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.
"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. 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.
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. 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.
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.
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. 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.

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

[refGRCm38Ensembl-2] 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] "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