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Polycystic kidney disease 1 (autosomal dominant)

PDB rendering based on 1b4r.
Available structures
Symbols PKD1; PBP
External IDs OMIM601313 MGI97603 HomoloGene250 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
Species Human Mouse
Entrez 5310 18763
Ensembl ENSG00000008710 ENSMUSG00000032855
UniProt P98161 n/a
RefSeq (mRNA) NM_000296 NM_013630
RefSeq (protein) NP_000287 NP_038658
Location (UCSC) Chr 16:
2.08 - 2.13 Mb
Chr 17:
24.28 - 24.32 Mb
PubMed search [1] [2]
Illustration of PKD1 and PKD2 proteins at the cell membrane

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

This gene encodes a member of the polycystin protein family. The encoded glycoprotein 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. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described.[1]



PKD1 has been shown to interact with Polycystic kidney disease 2[2][3] and RGS7.[4]

See also


  1. ^ "Entrez Gene: PKD1 polycystic kidney disease 1 (autosomal dominant)".  
  2. ^ 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): 6965–70. ISSN 0027-8424. PMID 9192675.  
  3. ^ 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): 3934–9. ISSN 0027-8424. PMID 10097141.  
  4. ^ 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): 6371–6. ISSN 0027-8424. PMID 10339594.  

Further reading

  • 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): 484–92. 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): 774–82. 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): 2425–9. PMID 17102641.  

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



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