Version: 8.0.0
Date: Tue Jan 28 2025
WNK1
Homo sapiensHGNC:14540
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

WNK1

Species
Homo sapiens
Symbol
WNK1
Name
WNK lysine deficient protein kinase 1
Synonyms
  • erythrocyte 65 kDa protein
  • hereditary sensory neuropathy, type II
Biotype
protein coding gene
Automated Description
Enables several functions, including ATP binding activity; enzyme binding activity; and molecular condensate scaffold activity. Involved in several processes, including negative regulation of cell-cell adhesion; negative regulation of metabolic process; and positive regulation of T cell chemotaxis. Acts upstream of or within negative regulation of GTPase activity and peptidyl-threonine phosphorylation. Located in cytoplasm. Is active in cytosol; mitotic spindle; and nucleus. Implicated in hereditary sensory and autonomic neuropathy type 2A; hereditary sensory neuropathy; hypertension; and pseudohypoaldosteronism.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR13902
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
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      Has Phenotype Annotations
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
        Source
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          WNK1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            WNK1 role
            WNK1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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