Aliases for WNK1 Gene
- WNK Lysine Deficient Protein Kinase 1 Isoform 3
- Prostate-Derived Sterile 20-Like Kinase 3
- Hereditary Sensory Neuropathy, Type II 2
- Serine/Threonine-Protein Kinase WNK1 1 3
- Serine/Threonine-Protein Kinase WNK1 2 3
- Protein Kinase, Lysine Deficient 1 2
- Protein Kinase Lysine-Deficient 1 4
- Kinase Deficient Protein 4
- EC 2.7.11 51
- KIAA0344 4
- HWNK1 4
- WNK1 5
- PSK 3
External Ids for WNK1 Gene
Previous HGNC Symbols for WNK1 Gene
Previous GeneCards Identifiers for WNK1 Gene
This gene encodes a member of the WNK subfamily of serine/threonine protein kinases. The encoded protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride ions. Mutations in this gene have been associated with pseudohypoaldosteronism type II and hereditary sensory neuropathy type II. Alternatively spliced transcript variants encoding different isoforms have been described but the full-length nature of all of them has yet to be determined.[provided by RefSeq, May 2010]
GeneCards Summary for WNK1 Gene
WNK1 (WNK Lysine Deficient Protein Kinase 1) is a Protein Coding gene. Diseases associated with WNK1 include Neuropathy, Hereditary Sensory And Autonomic, Type Iia and Pseudohypoaldosteronism, Type Iic. Among its related pathways are AKT Siganaling Pathway and Apoptotic Pathways in Synovial Fibroblasts. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is WNK2.
UniProtKB/Swiss-Prot Summary for WNK1 Gene
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).
[Isoform 3]: Dominant-negative regulator of the longer isoform 1. Does not have kinase activity, does not directly inhibit WNK4 and has no direct effect on sodium and chloride ion transport. Downregulates sodium-chloride cotransporter activity indirectly by inhibiting isoform 1, it associates with isoform 1 and attenuates its kinase activity. In kidney, may play an important role regulating sodium and potassium balance.