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Polycystic kidney disease 1 (autosomal dominant)
PBB Protein PKD1 image.jpg
PDB rendering based on 1b4r.
Available structures
PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB
Symbols PKD1 ; PBP
External IDs Template:OMIM5 Template:MGI HomoloGene250
RNA expression pattern
File:PBB GE PKD1 202328 s at tn.png
File:PBB GE PKD1 202327 s at tn.png
File:PBB GE PKD1 216949 s at tn.png
More reference expression data
Template:GNF Ortholog box
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

Polycystic kidney disease 1 (autosomal dominant), also known as PKD1, is a human 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]

See also


  1. "Entrez Gene: PKD1 polycystic kidney disease 1 (autosomal dominant)".

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. 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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