PKD1

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Polycystic kidney disease 1 (autosomal dominant)
Protein PKD1 PDB 1b4r.png
PDB rendering based on 1b4r.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols PKD1 ; PBP; Pc-1; TRPP1
External IDs OMIM601313 MGI97603 HomoloGene250 ChEMBL: 5772 GeneCards: PKD1 Gene
RNA expression pattern
PBB GE PKD1 202328 s at tn.png
PBB GE PKD1 202327 s at tn.png
PBB GE PKD1 216949 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 5310 18763
Ensembl ENSG00000008710 ENSMUSG00000032855
UniProt P98161 O08852
RefSeq (mRNA) NM_000296 NM_013630
RefSeq (protein) NP_000287 NP_038658
Location (UCSC) Chr 16:
2.14 – 2.19 Mb
Chr 17:
24.55 – 24.6 Mb
PubMed search [1] [2]

Polycystin-1 is a protein that in humans is encoded by the PKD1 gene.[1][2]

Gene product[edit]

Illustration of PKD1 and PKD2 proteins at the cell membrane

Function[edit]

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.

Interactions[edit]

Polycystin-1 has been shown to interact with polycystin-2[3][4] and RGS7.[5]

Gene[edit]

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]

See also[edit]

References[edit]

  1. ^ 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. 
  2. ^ "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. 
  3. ^ Tsiokas, L; Kim E; Arnould T; Sukhatme V P; Walz G (June 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. 
  4. ^ Tsiokas, L; Arnould T; Zhu C; Kim E; Walz G; Sukhatme V P (March 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. 
  5. ^ 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. 
  6. ^ "Entrez Gene: PKD1 polycystic kidney disease 1 (autosomal dominant)". 

External links[edit]

Further reading[edit]

  • Islam, Md. Shahidul (January 2011). Transient Receptor Potential Channels. Advances in Experimental Medicine and Biology 704. Berlin: Springer. p. 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.