Species Human Entrez 5310 | Human Mouse Ensembl ENSG00000008710 | |
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Aliases PKD1, PBP, Pc-1, TRPP1, polycystin 1, transient receptor potential channel interacting External IDs OMIM: 601313 MGI: 97603 HomoloGene: 250 GeneCards: PKD1 | ||
Polycystin-1 is a protein that in humans is encoded by the PKD1 gene.
Contents
Gene
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.
Function
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
Polycystin-1 has been shown to interact with polycystin-2 and RGS7.
