WNK1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | WNK1 |
| Official Name | WNK lysine deficient protein kinase 1 [Source:HGNC Symbol;Acc:HGNC:14540] |
| Ensembl ID | ENSG00000060237 |
| Bio databases IDs | |
| Aliases | WNK lysine deficient protein kinase 1, protein phosphatase 1, regulatory subunit 167 |
| Synonyms | 6430573H23Rik, EG406236, HSAN2, HSN2, KDP, KIAA0344, LOC100503989, mKIAA0344, p65, PB11, PPP1R167, PRKWNK1, Protein kinase, lysine-deficient 1, PSK, WNK lysine deficient protein kinase 1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human WNK1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein serine/threonine kinase
- protein kinase
- protein binding activity, bridging
- ATP binding
- coiled-coil domain
- Protein kinase domain
- proline rich domain
- Oxidative-stress-responsive kinase 1 C-terminal domain
- Tyrosine kinase, catalytic domain
- phosphatase binding
- Protein kinase (unclassified specificity)
- protein kinase binding
- autoinhibitory protein domain
- catalytic domain
- Protein tyrosine and serine/threonine kinase
- protein binding
- magnesium ion binding
- potassium channel inhibitor
- kinase
- protein kinase activator
- Serine/Threonine protein kinases, catalytic domain
- RFXV motif
- kinase domain
- protein serine/threonine kinase inhibitor
- Protein Kinases, catalytic domain
Pathways
Biological processes and signaling networks where the WNK1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- metastasis
- lung squamous cell carcinoma
- squamous cell lung cancer
- organismal death
- hereditary disorder
- cervical cancer
- hereditary sensory neuropathy type IIA
- Huntington disease
- pseudohypoaldosteronism type IIC
role in cell
- activation in
- proliferation
- expression in
- binding in
- migration
- invasion by
- phosphorylation in
- pyroptosis
- chemotaxis
- formation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- soluble fraction
- organelle
- cilia
- Extracellular Space
- apical compartment
- cellular membrane
- Nucleus
- Plasma Membrane
- cytosol
- lateral plasma membrane
- synapse
- storage granules
- mitotic spindle
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human WNK1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- chemokine (C-C motif) ligand 21 signaling pathway
- potassium ion homeostasis
- protein phosphorylation
- positive regulation of angiogenesis
- cell volume homeostasis
- lymphocyte migration into lymph node
- heart development
- protein insertion into ER membrane by stop-transfer membrane-anchor sequence
- ion transport
- cellular hyperosmotic response
- negative regulation of protein ubiquitination
- regulation of mRNA export from nucleus
- intracellular signal transduction
- cellular chloride ion homeostasis
- T cell receptor signaling pathway
- negative regulation of cell-cell adhesion mediated by integrin
- negative regulation of GTPase activity
- signal transduction
- negative regulation of pancreatic juice secretion
- positive regulation of systemic arterial blood pressure
- positive regulation of canonical Wnt receptor signaling pathway
- neuron development
- cation homeostasis
- regulation of sodium ion transport
- negative regulation of autophagy
- positive regulation of T cell chemotaxis
- negative regulation of heterotypic cell-cell adhesion
- sodium ion transmembrane transport
- peptidyl-serine phosphorylation
- peptidyl-threonine phosphorylation
Cellular Component
Where in the cell the gene product is active
- nucleus
- mitotic spindle
- cytoplasm
- membrane
- intracellular non-membrane-bounded organelle
- cytosol
- macromolecular complex
Molecular Function
What the gene product does at the molecular level
- phosphatase binding
- ATP binding
- protein kinase binding
- protein binding
- protein kinase activator activity
- protein kinase activity
- protein serine/threonine kinase activity