Trisha Shetty

Polycystin 1

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Species  Human
Entrez  5310
Human  Mouse
Ensembl  ENSG00000008710
Polycystin 1 1118i02
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

Polycystin 1 JCI RIPed and ready to dance new mechanisms for polycystin1

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 Structure and functions of polycystin1 PC1 and related

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.

Polycystin 1 httpsuploadwikimediaorgwikipediacommonsthu
Polycystin 1 Structure of polycystins Polycystin1 PC1 has a large Figure

References

Polycystin 1 Wikipedia


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