PKD1
Polycystin-1 is a protein that in humans is encoded by the PKD1 gene.[1][2]
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[edit] Gene product
[edit] Function
Polycystin-1 is a glycoprotein which contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It may function as an integral membrane protein involved in cell-cell/matrix interactions, and may modulate intracellular calcium homoeostasis and other signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene have been associated with autosomal dominant polycystic kidney disease.
[edit] Interactions
Polycystin-1 has been shown to interact with polycystin-2[3][4] and RGS7.[5]
[edit] Gene
Splice variants encoding different isoforms have been noted for PKD1. The gene is closely linked to six pseudogenes in a known duplicated region on chromosome 16p.[6]
[edit] See also
[edit] References
- ^ Hughes J, Ward CJ, Peral B, Aspinwall R, Clark K, San Millán JL, Gamble V, Harris PC (June 1995). "The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains". Nat. Genet. 10 (2): 151–160. doi:10.1038/ng0695-151. PMID 7663510.
- ^ "Polycystic kidney disease: the complete structure of the PKD1 gene and its protein. The International Polycystic Kidney Disease Consortium". Cell 81 (2): 289–98. April 1995. doi:10.1016/0092-8674(95)90339-9. PMID 7736581.
- ^ Tsiokas, L; Kim E, Arnould T, Sukhatme V P, Walz G (Jun. 1997). "Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2". Proc. Natl. Acad. Sci. U.S.A. (UNITED STATES) 94 (13): 6965–6970. doi:10.1073/pnas.94.13.6965. ISSN 0027-8424. PMC 21268. PMID 9192675. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=21268.
- ^ Tsiokas, L; Arnould T, Zhu C, Kim E, Walz G, Sukhatme V P (Mar. 1999). "Specific association of the gene product of PKD2 with the TRPC1 channel". Proc. Natl. Acad. Sci. U.S.A. (UNITED STATES) 96 (7): 3934–3939. doi:10.1073/pnas.96.7.3934. ISSN 0027-8424. PMC 22398. PMID 10097141. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=22398.
- ^ Kim, E; Arnould T, Sellin L, Benzing T, Comella N, Kocher O, Tsiokas L, Sukhatme V P, Walz G (May. 1999). "Interaction between RGS7 and polycystin". Proc. Natl. Acad. Sci. U.S.A. (UNITED STATES) 96 (11): 6371–6376. doi:10.1073/pnas.96.11.6371. ISSN 0027-8424. PMC 26888. PMID 10339594. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=26888.
- ^ "Entrez Gene: PKD1 polycystic kidney disease 1 (autosomal dominant)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5310.
[edit] External links
[edit] Further reading
- Islam, Md. Shahidul (January 2011). Transient Receptor Potential Channels. Advances in Experimental Medicine and Biology. 704. Berlin: Springer. pp. 700. ISBN 978-94-007-0264-6.
- Wilson PD (2001). "Polycystin: new aspects of structure, function, and regulation". J. Am. Soc. Nephrol. 12 (4): 834–45. PMID 11274246.
- Boletta A, Germino GG (2004). "Role of polycystins in renal tubulogenesis". Trends Cell Biol. 13 (9): 484–492. doi:10.1016/S0962-8924(03)00169-7. PMID 12946628.
- Everson GT, Taylor MR, Doctor RB (2004). "Polycystic disease of the liver". Hepatology 40 (4): 774–782. doi:10.1002/hep.20431. PMID 15382167.
- Weimbs T (2007). "Regulation of mTOR by polycystin-1: is polycystic kidney disease a case of futile repair?". Cell Cycle 5 (21): 2425–2429. doi:10.4161/cc.5.21.3408. PMID 17102641.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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