Protein Name polycystin 1, transient receptor potential channel interacting
Organism Homo sapiens
Gene ID 5310
Gene Symbol

PKD1

UniProt P98161 (PKD1_HUMAN)
Relationships Total Number of functionally related compound(s) : 337
Total Number of Articles : 351
Description

polycystin 1, transient receptor potential channel interacting

Gene Summary

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 is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. 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. [provided by RefSeq, Oct 2008]

synonyms
  • polycystin-1
  • autosomal dominant polycystic kidney disease 1 protein
  • polycystic kidney disease 1 (autosomal dominant)
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Properties