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Aliases for WNK1 Gene

Aliases for WNK1 Gene

  • WNK Lysine Deficient Protein Kinase 1 2 3 5
  • Protein Kinase With No Lysine 1 3 4
  • Erythrocyte 65 KDa Protein 3 4
  • EC 2.7.11.1 4 63
  • PRKWNK1 3 4
  • HSN2 3 4
  • P65 3 4
  • KDP 3 4
  • WNK Lysine Deficient Protein Kinase 1 Isoform 3
  • Protein Phosphatase 1, Regulatory Subunit 167 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
  • Regulatory Subunit 167 2
  • Protein Phosphatase 1 2
  • EC 2.7.11 63
  • PPP1R167 3
  • KIAA0344 4
  • HSAN2 3
  • HWNK1 4
  • PSK 3

External Ids for WNK1 Gene

Previous HGNC Symbols for WNK1 Gene

  • PRKWNK1
  • HSN2

Previous GeneCards Identifiers for WNK1 Gene

  • GC12P000862

Summaries for WNK1 Gene

Entrez Gene Summary 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 pseudohypoaldosteronism, type iic and neuropathy, hereditary sensory and autonomic, type ii. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and EGFR1 Signaling Pathway. 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 NRBP1.

UniProtKB/Swiss-Prot 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).

Gene Wiki entry for WNK1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WNK1 Gene

Genomics for WNK1 Gene

Regulatory Elements for WNK1 Gene

Promoters for WNK1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around WNK1 on UCSC Golden Path with GeneCards custom track

Genomic Location for WNK1 Gene

Chromosome:
12
Start:
752,593 bp from pter
End:
911,452 bp from pter
Size:
158,860 bases
Orientation:
Plus strand

Genomic View for WNK1 Gene

Genes around WNK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WNK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WNK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WNK1 Gene

Proteins for WNK1 Gene

  • Protein details for WNK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H4A3-WNK1_HUMAN
    Recommended name:
    Serine/threonine-protein kinase WNK1
    Protein Accession:
    Q9H4A3
    Secondary Accessions:
    • A1L4B0
    • C5HTZ5
    • C5HTZ6
    • C5HTZ7
    • H6WZW3
    • O15052
    • P54963
    • Q4VBX9
    • Q6IFS5
    • Q86WL5
    • Q8N673
    • Q96CZ6
    • Q9P1S9

    Protein attributes for WNK1 Gene

    Size:
    2382 amino acids
    Molecular mass:
    250794 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Interacts with SYT2 (By similarity). Interacts with WNK3 and WNK4 (By similarity). Interacts with KLHL3.
    SequenceCaution:
    • Sequence=AAF31483.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the C-terminal part.; Evidence={ECO:0000305}; Sequence=AAI30468.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=AAI30470.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=DAA04494.1; Type=Erroneous gene model prediction; Note=Includes 3 and 3 intronic sequences.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for WNK1 Gene

    Alternative splice isoforms for WNK1 Gene

neXtProt entry for WNK1 Gene

Proteomics data for WNK1 Gene at MOPED

Post-translational modifications for WNK1 Gene

  • O-glycosylated.
  • Ubiquitinated in vitro by the BCR(KLHL3) complex and in vivo by a BCR(KLHL2) complex, leading to proteasomal degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for WNK1 (WNK1)

Domains & Families for WNK1 Gene

Protein Domains for WNK1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H4A3

UniProtKB/Swiss-Prot:

WNK1_HUMAN :
  • Contains 1 protein kinase domain.
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. WNK subfamily.
Domain:
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. WNK subfamily.
genes like me logo Genes that share domains with WNK1: view

Function for WNK1 Gene

Molecular function for WNK1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot EnzymeRegulation:
By hypertonicity. Activation requires autophosphorylation of Ser-382. Phosphorylation of Ser-378 also promotes increased activity (By similarity).
UniProtKB/Swiss-Prot Function:
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).

Enzyme Numbers (IUBMB) for WNK1 Gene

Gene Ontology (GO) - Molecular Function for WNK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0005515 protein binding IPI 15350218
GO:0005524 ATP binding IEA,IDA 10660600
GO:0019869 chloride channel inhibitor activity IDA 17673510
GO:0019870 potassium channel inhibitor activity IEA --
genes like me logo Genes that share ontologies with WNK1: view
genes like me logo Genes that share phenotypes with WNK1: view

Human Phenotype Ontology for WNK1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for WNK1

miRNA for WNK1 Gene

miRTarBase miRNAs that target WNK1

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for WNK1 Gene

Localization for WNK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WNK1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for WNK1 Gene COMPARTMENTS Subcellular localization image for WNK1 gene
Compartment Confidence
cytosol 3
nucleus 2
plasma membrane 2
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for WNK1 Gene

Pathways & Interactions for WNK1 Gene

genes like me logo Genes that share pathways with WNK1: view

Pathways by source for WNK1 Gene

1 BioSystems pathway for WNK1 Gene
1 PharmGKB pathway for WNK1 Gene
3 Qiagen pathways for WNK1 Gene

SIGNOR curated interactions for WNK1 Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for WNK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA,IDA 10660600
GO:0006811 ion transport ISS --
GO:0010923 negative regulation of phosphatase activity IDA 19389623
GO:0033673 negative regulation of kinase activity IEA --
GO:0035556 intracellular signal transduction TAS 24393035
genes like me logo Genes that share ontologies with WNK1: view

Drugs & Compounds for WNK1 Gene

(12) Drugs for WNK1 Gene - From: HMDB, Novoseek, and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hydrochlorothiazide Approved Pharma Inhibition, Inhibitor 387
Adenosine triphosphate Approved Nutra 0
Magnesium Nutra 0

(8) Additional Compounds for WNK1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
genes like me logo Genes that share compounds with WNK1: view

Transcripts for WNK1 Gene

Unigene Clusters for WNK1 Gene

WNK lysine deficient protein kinase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for WNK1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^
SP1: - - - -
SP2: - - - - - -
SP3:
SP4: - - -
SP5:
SP6:
SP7:
SP8:

ExUns: 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25a · 25b ^ 26 ^ 27a · 27b ^ 28a · 28b ^ 29a · 29b
SP1: - -
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for WNK1 Gene

GeneLoc Exon Structure for
WNK1
ECgene alternative splicing isoforms for
WNK1

Expression for WNK1 Gene

mRNA expression in normal human tissues for WNK1 Gene

Protein differential expression in normal tissues from HIPED for WNK1 Gene

This gene is overexpressed in Adrenal (38.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for WNK1 Gene



SOURCE GeneReport for Unigene cluster for WNK1 Gene Hs.744906

mRNA Expression by UniProt/SwissProt for WNK1 Gene

Q9H4A3-WNK1_HUMAN
Tissue specificity: Widely expressed, with highest levels observed in the testis, heart, kidney and skeletal muscle. Isoform 3 is kidney-specific and specifically expressed in the distal convoluted tubule (DCT) and connecting tubule (CNT) of the nephron.
genes like me logo Genes that share expression patterns with WNK1: view

Protein tissue co-expression partners for WNK1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for WNK1 Gene

Orthologs for WNK1 Gene

This gene was present in the common ancestor of animals.

Orthologs for WNK1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia WNK1 35
  • 82.45 (n)
  • 82.72 (a)
WNK1 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia WNK1 35
  • 91.13 (n)
  • 90.69 (a)
WNK1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Wnk1 35
  • 86.87 (n)
  • 86.11 (a)
Wnk1 16
Wnk1 36
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Wnk1 35
  • 86.96 (n)
  • 86.41 (a)
oppossum
(Monodelphis domestica)
Mammalia WNK1 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WNK1 36
  • 70 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia WNK1 36
  • 99 (a)
OneToOne
chicken
(Gallus gallus)
Aves WNK1 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WNK1 36
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.8259 35
zebrafish
(Danio rerio)
Actinopterygii wnk1a 36
  • 51 (a)
OneToMany
wnk1b 36
  • 50 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Wnk 36
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea wnk-1 36
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 79 (a)
OneToMany
Species with no ortholog for WNK1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for WNK1 Gene

ENSEMBL:
Gene Tree for WNK1 (if available)
TreeFam:
Gene Tree for WNK1 (if available)

Paralogs for WNK1 Gene

Paralogs for WNK1 Gene

genes like me logo Genes that share paralogs with WNK1: view

Variants for WNK1 Gene

Sequence variations from dbSNP and Humsavar for WNK1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs2286007 - 862,125(+) CTTCA(C/G/T)AGAAT reference, missense
VAR_035640 A colorectal cancer sample
VAR_035641 Breast cancer samples
rs11554421 - 753,986(+) CCGCT(A/G)CCGCC reference, missense
rs34880640 - 754,011(+) CGTCG(C/T)GGGCC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for WNK1 Gene

Variant ID Type Subtype PubMed ID
dgv452e1 CNV Complex 17122850
dgv1337n71 CNV Gain 21882294
essv9497 CNV CNV 17122850
nsv898576 CNV Loss 21882294
nsv511011 CNV Complex 20534489
nsv468959 CNV Loss 19166990
nsv518946 CNV Loss 19592680
nsv437133 CNV Loss 16327808
dgv27e180 CNV Deletion 20482838
nsv819875 CNV Gain 19587683
nsv8888 CNV Gain 18304495
nsv821212 CNV Deletion 20802225
nsv826175 CNV Loss 20364138
dgv254e199 CNV Deletion 23128226
esv24614 CNV Gain 19812545
esv2745368 CNV Deletion 23290073
nsv514674 CNV Loss 21397061
esv2422082 CNV Deletion 20811451
nsv442628 CNV CNV 18776908
nsv898577 CNV Loss 21882294
nsv898578 CNV Loss 21882294
nsv524544 CNV Gain 19592680
esv2745369 CNV Deletion 23290073
nsv522901 CNV Gain 19592680
nsv468960 CNV Gain 19166990
esv269252 CNV Insertion 20981092
nsv470256 CNV Gain 18288195
dgv1339n71 CNV Gain 21882294

Variation tolerance for WNK1 Gene

Residual Variation Intolerance Score: 24.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.68; 96.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for WNK1 Gene

HapMap Linkage Disequilibrium report
WNK1
Human Gene Mutation Database (HGMD)
WNK1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WNK1 Gene

Disorders for WNK1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for WNK1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pseudohypoaldosteronism, type iic
  • pseudohypoaldosteronism type iic
neuropathy, hereditary sensory and autonomic, type ii
  • neuropathy, hereditary sensory and autonomic, type iib
hereditary sensory neuropathy
  • congenital insensitivity to pain
pseudohypoaldosteronism
familial hypertension
  • genetic hypertension
- elite association - COSMIC cancer census association via MalaCards
Search WNK1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

WNK1_HUMAN
  • Neuropathy, hereditary sensory and autonomic, 2A (HSAN2A) [MIM:201300]: A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN2A is an autosomal recessive disorder characterized by impairment of pain, temperature and touch sensation, onset of symptoms in infancy or early childhood, occurrence of distal extremity pathologies (paronychia, whitlows, ulcers, and Charcot joints), frequent amputations, sensory loss that affects all modalities of sensation (lower and upper limbs and perhaps the trunk as well), absence or diminution of tendon reflexes (usually in all limbs), minimal autonomic dysfunction, absence of sensory nerve action potentials, and virtual absence of myelinated fibers with decreased numbers of unmyelinated fibers in sural nerves. {ECO:0000269 PubMed:15060842, ECO:0000269 PubMed:15911806, ECO:0000269 PubMed:18521183}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Pseudohypoaldosteronism 2C (PHA2C) [MIM:614492]: An autosomal dominant disorder characterized by severe hypertension, hyperkalemia, hyperchloremia, mild hyperchloremic metabolic acidosis in some cases, and correction of physiologic abnormalities by thiazide diuretics. {ECO:0000269 PubMed:11498583}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for WNK1

Genetic Association Database (GAD)
WNK1
Human Genome Epidemiology (HuGE) Navigator
WNK1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
WNK1
genes like me logo Genes that share disorders with WNK1: view

No data available for Genatlas for WNK1 Gene

Publications for WNK1 Gene

  1. Polymorphisms in the WNK1 gene are associated with blood pressure variation and urinary potassium excretion. (PMID: 19347040) Newhouse S. … Munroe P.B. (PLoS ONE 2009) 3 23 48 67
  2. Carriers of recessive WNK1/HSN2 mutations for hereditary sensory and autonomic neuropathy type 2 (HSAN2) are more sensitive to thermal stimuli. (PMID: 19228968) Loggia M.L. … Brais B. (J. Neurosci. 2009) 3 23
  3. [Mutations in the HSN2 exon of WNK1 cause hereditary sensory neuropathy type II]. (PMID: 19361385) RiviA"re J.B. … Rouleau G.A. (Med Sci (Paris) 2009) 3 23
  4. Variations in the WNK1 gene modulates the effect of dietary intake of sodium and potassium on blood pressure determination. (PMID: 19609280) Osada Y. … Yamakawa-Kobayashi K. (J. Hum. Genet. 2009) 3 23
  5. Kinetic mechanism and inhibitor characterization of WNK1 kinase. (PMID: 19739668) Yagi Y.I. … Sode K. (Biochemistry 2009) 3 23

Products for WNK1 Gene

Sources for WNK1 Gene

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