Disease-gene associations mined from literature

Literature associating WNK1 and pseudohypoaldosteronism

WNK1 [ENSP00000341292]

WNK lysine deficient protein kinase 1; Serine/threonine kinase which plays an important role in the regulation of electrolyte homeostasis, cell signaling, survival, and proliferation. Acts as an activator and inhibitor of sodium-coupled chloride cotransporters and potassium-coupled chloride cotransporters respectively. Activates SCNN1A, SCNN1B, SCNN1D and SGK1. Controls sodium and chloride ion transport by inhibiting the activity of WNK4, by either phosphorylating the kinase or via an interaction between WNK4 and the autoinhibitory domain of WNK1. WNK4 regulates the activity of the thiazide- sensitive Na-Cl cotransporter, SLC12A3, by phosphorylation. WNK1 may also play a role in actin cytoskeletal reorganization. Phosphorylates NEDD4L. Acts as a scaffold to inhibit SLC4A4, SLC26A6 as well as CFTR activities and surface expression, recruits STK39 which mediates the inhibition (By similarity); Minor histocompatibility antigens

Synonyms:  WNK1,  WNK1p,  hWNK1,  A5XEH8,  F5GWT4 ...

Linkouts:  STRING  Pharos  UniProt