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[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.[3]

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[4][5] and RGS7.[6]

See also[edit]

References[edit]

  1. ^ Hughes J, Ward CJ, Peral B, Aspinwall R, Clark K, San Millán JL et al. (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. ^ "Entrez Gene: PKD1 polycystic kidney disease 1 (autosomal dominant)". 
  4. ^ Tsiokas L, Kim E, Arnould T, Sukhatme VP, Walz G (June 1997). "Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2". Proc. Natl. Acad. Sci. U.S.A. 94 (13): 6965–6970. doi:10.1073/pnas.94.13.6965. PMC 21268. PMID 9192675. 
  5. ^ Tsiokas L, Arnould T, Zhu C, Kim E, Walz G, Sukhatme VP (March 1999). "Specific association of the gene product of PKD2 with the TRPC1 channel". Proc. Natl. Acad. Sci. U.S.A. 96 (7): 3934–3939. doi:10.1073/pnas.96.7.3934. PMC 22398. PMID 10097141. 
  6. ^ Kim E, Arnould T, Sellin L, Benzing T, Comella N, Kocher O et al. (May 1999). "Interaction between RGS7 and polycystin". Proc. Natl. Acad. Sci. U.S.A. 96 (11): 6371–6376. doi:10.1073/pnas.96.11.6371. PMC 26888. PMID 10339594. 

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. 

External links[edit]

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