WNK1 Gene

WNK1 (WNK lysine-deficient protein kinase 1) is a protein-coding gene located on chromosome 12p13.33. Diseases associated with WNK1 mutations include:

• Hereditary sensory and autonomic neuropathy type II (Iia).
• Pseudohypoaldosteronism, type II (Iia).

Metabolic pathways affected include ion channel transport and apoptotic "pathways" in synovial fibroblasts. Biochemical activities include transferase activity, transfer of phosphorus-containing groups, and protein tyrosine kinase activity. An important paralog of this gene is WNK2.

The WNK1 gene encodes a member of the WNK subfamily of serine/threonine protein kinases. The encoded protein appears to play a key role in the regulation of blood pressure by controlling the transport of sodium and chloride ions. Alternatively spliced transcript variants encoding different isoforms have been described. Activates SCNN1A, SCNN1B, SCNN1D and SGK1.

1. Furusho T et al (2020) The WNK signaling pathway and salt-sensitive hypertension. Hypertens Res. 43:733-743
2. Kurth I (2021) Hereditary sensory and autonomic neuropathy type II. In: Adam MP et al. editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2021.