Recombinant Human Polycystin-1 (PKD1), partial

Function

Plays a role in mitochondrial dynamics. In immortalized renal cyst cells, converts fragmented mitochondria to a filamentous shape

Disease Association

Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) : An autosomal dominant disorder characterized by renal cysts, liver cysts and intracranial aneurysm. Clinical variability is due to differences in the rate of loss of glomerular filtration, the age of reaching end-stage renal disease and the occurrence of hypertension, symptomatic extrarenal cysts, and subarachnoid hemorrhage from intracranial 'berry' aneurysm. [The disease is caused by variants affecting the gene represented in this entry]

Subunit

Component of the heterotetrameric polycystin channel complex with PKD2; the tetramer contains one PKD1 chain and three PKD2 chains (PubMed:30093605). Interacts with PKD2; the interaction is required for ciliary localization (PubMed:20881056). Interacts with PKD2L1 (By similarity). Interacts with PRKX; involved in differentiation and controlled morphogenesis of the kidney (PubMed:17980165). Interacts (via extracellular domain) with WNT3A, WNT4, WNT5A and WNT9B (PubMed:27214281). Interacts with DVL1 and DVL2 (PubMed:27214281). Interacts with NPHP1 (via SH3 domain) (PubMed:20856870). Interacts with BBS1, BBS4, BBS5 and TTC8 (PubMed:24939912). Interacts with RGS7 (PubMed:10339594). Interacts (via the PKD repeats in the N-terminal extracellular region) with EPCIP; the interaction is not dependent on N-glycosylation of either protein (PubMed:37681898)

• Gluecksmann-Kuis M.A. et al. Polycystic kidney disease: the complete structure of the PKD1 gene and its protein. — Cell (1995)
• Hughes J. et al. The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. — Nat. Genet. (1995)
• Kurbegovic A. et al. Eliosin-an alternative product from the HmPKD1 locus is a component of endoplasmic reticulum mitochondria membrane contact sites. — PLoS ONE (2025)
• Martin J. et al. The sequence and analysis of duplication-rich human chromosome 16. — Nature (2004)
• Ward C.J. et al. The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. — Cell (1994)
• Ward C.J. et al. PubMed: 8069919 — Cell (1994)
• Kim E. et al. Interaction between RGS7 and polycystin. — Proc. Natl. Acad. Sci. U.S.A. (1999)
• Qian F. et al. Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations. — Proc. Natl. Acad. Sci. U.S.A. (2002)