Polycystin 1/PC1

The LDL-receptor class A domain is atypical; the potential calcium-binding site is missing.

Component of a heteromeric calcium-permeable ion channel formed by PKD1 and PKD2 that is activated by interaction between PKD1 and a Wnt family member, such as WNT3A and WNT9B (PubMed:27214281). Both PKD1 and PKD2 are required for channel activity (PubMed:27214281). Involved in renal tubulogenesis (PubMed:12482949). Involved in fluid-flow mechanosensation by the primary cilium in renal epithelium (By similarity). Acts as a regulator of cilium length, together with PKD2 (By similarity). The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling (By similarity). The cilium length response creates a negative feedback loop whereby fluid shear-mediated deflection of the primary cilium, which decreases intracellular cAMP, leads to cilium shortening and thus decreases flow-induced signaling (By similarity). May be an ion-channel regulator. Involved in adhesive protein-protein and protein-carbohydrate interactions. Likely to be involved with polycystin-1-interacting protein 1 in the detection, sequestration and exocytosis of senescent mitochondria (PubMed:37681898).

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.

None

The disease is caused by variants affecting the gene represented in this entry.

N-glycosylated.

After synthesis, undergoes cleavage between Leu-3048 and Thr-3049 in the GPS region of the GAIN-B domain. Cleavage at the GPS region occurs through a cis-autoproteolytic mechanism involving an ester-intermediate via N-O acyl rearrangement. This process takes place in the early secretory pathway, depends on initial N-glycosylation, and requires the REJ domain. There is evidence that cleavage at GPS region is incomplete. Uncleaved and cleaved products may have different functions in vivo.

Belongs to the polycystin family.

• Cell membrane
• Multi-pass membrane protein
• Cell projection
• Cilium
• Endoplasmic reticulum
• Golgi apparatus
• Vesicle
• Secreted
• Extracellular exosome
• 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 region of the GAIN-B 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). Detected on migrasomes and on extracellular exosomes in urine (PubMed:37681898).

Polycystin-1, PC1, Autosomal dominant polycystic kidney disease 1 protein, PKD1

• entrezGene:5310
• omim:601313
• swissprot:P98161

Proteins

Immunology & Infectious Disease

462529Da