PKD1

Polycystic kidney disease 1 (autosomal dominant)
PDB rendering based on 1b4r.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1b4r​
Identifiers
Symbols	PKD1 ; PBP
External IDs	Template:OMIM5 Template:MGI HomoloGene: 250
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
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
Orthologs
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.

See also

• TRPP

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.CS1 maint: Multiple names: authors list (link)
• 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.