DISEASES

Disease-gene associations mined from literature

Literature associating PKD1 and DOID:0080325

PKD1 [ENSP00000262304]

Polycystin-1; 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 . Both PKD1 and PKD2 are required for channel activity . Involved in renal tubulogenesis . 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; Belongs to the polycystin family.

Synonyms:  PKD1,  PKD1p,  hPKD1,  H3BQF4,  H3BSE8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM