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- Table of Contents
Facts about Polycystin-1.
Involved in renal tubulogenesis (PubMed:12482949). Involved in fluid-flow mechanosensation from the primary cilium in renal epithelium (By similarity).
Human | |
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Gene Name: | PKD1 |
Uniprot: | P98161 |
Entrez: | 5310 |
Belongs to: |
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polycystin family |
Autosomal dominant polycystic kidney disease 1 protein; PBP; Pc-1; PKD1; polycystic kidney disease 1 (autosomal dominant); polycystic kidney disease-associated protein; polycystin 1; Polycystin1; Polycystin-1; transient receptor potential cation channel, subfamily P, member 1; TRPP1
Mass (kDA):
462.529 kDA
Human | |
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Location: | 16p13.3 |
Sequence: | 16; NC_000016.10 (2088708..2135898, complement) |
Cell membrane; Multi-pass membrane protein. Cell projection, cilium. Endoplasmic reticulum. Golgi apparatus. PKD1 localization to the plasma and ciliary membranes requires PKD2, is independent of PKD2 channel activity, and involves stimulation of PKD1 autoproteolytic cleavage at the GPS domain. PKD1:PKD2 interaction is required to reach the Golgi apparatus from endoplasmic reticulum and then traffic to the cilia (By similarity). Ciliary localization of PKD1 requires BBS1 and ARL6/BBS3 (By similarity). Cell surface localization requires GANAB (PubMed:27259053).
PMID: 7736581 by Gluecksmann-Kuis M.A., et al. Polycystic kidney disease: the complete structure of the PKD1 gene and its protein.
PMID: 7663510 by Hughes J., et al. The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains.