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Aliases for WNK1 Gene

Aliases for WNK1 Gene

  • WNK Lysine Deficient Protein Kinase 1 2 3
  • PRKWNK1 3 4 6
  • HSN2 3 4 6
  • KDP 3 4 6
  • Protein Kinase With No Lysine 1 3 4
  • Erythrocyte 65 KDa Protein 3 4
  • EC 2.7.11.1 4 63
  • HSAN2 3 6
  • P65 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 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
  • PHA2C 6
  • 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 Akt Signaling and ERK Signaling. GO annotations related to this gene include protein serine/threonine kinase activity and protein kinase inhibitor 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.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for WNK1 Gene

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

Genomic View for WNK1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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.
  • Ubiquitination at Lys375
  • Modification sites at PhosphoSitePlus

Antibody Products

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

Domains for WNK1 Gene

Gene Families for WNK1 Gene

Protein Domains for WNK1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H4A3

UniProtKB/Swiss-Prot:

WNK1_HUMAN :
  • Q9H4A3
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.

Enzyme Numbers (IUBMB) for WNK1 Gene

Gene Ontology (GO) - Molecular Function for WNK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity --
GO:0004674 protein serine/threonine kinase activity TAS 24393035
GO:0004713 protein tyrosine kinase activity --
GO:0004860 protein kinase inhibitor activity IEA --
GO:0005515 protein binding IPI 15350218
genes like me logo Genes that share ontologies with WNK1: view
genes like me logo Genes that share phenotypes with WNK1: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for WNK1

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targeting 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 2
nucleus 2
plasma membrane 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for WNK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with WNK1: view

Pathways for WNK1 Gene

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

Pathways by source for WNK1 Gene

3 Qiagen pathways for WNK1 Gene
1 Cell Signaling Technology pathway for WNK1 Gene
1 BioSystems pathway for WNK1 Gene

Gene Ontology (GO) - Biological Process for WNK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003084 positive regulation of systemic arterial blood pressure --
GO:0006468 protein phosphorylation IDA 10660600
GO:0006469 negative regulation of protein kinase activity IEA --
GO:0006811 ion transport ISS --
GO:0010923 negative regulation of phosphatase activity IDA 19389623
genes like me logo Genes that share ontologies with WNK1: view

Compounds for WNK1 Gene

(5) HMDB Compounds for WNK1 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Chlorine
  • Cl2
16887-00-6
Magnesium
  • Magnesium
7439-95-4
Sodium
  • Sodium
7440-23-5

(15) Novoseek inferred chemical compound relationships for WNK1 Gene

Compound -log(P) Hits PubMed IDs
lysine 73.6 13
thiazide 72 2
threonine 65 6
potassium 61.1 15
chloride 55 6

(1) PharmGKB related drug/compound annotations for WNK1 Gene

Drug/compound Annotation
hydrochlorothiazide CA
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for WNK1

Primer Products

Flow Cytometry Products

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for WNK1 Gene

This gene is overexpressed in Adrenal (38.6).

Integrated Proteomics: protein expression 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 expressions with WNK1: view

Expression partners for WNK1 Gene

In Situ Assay Products

No data available for 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 MAF
rs6878 -- 909,286(+) TTTTT(C/T)TTTGC utr-variant-3-prime
rs11833 -- 911,135(-) GCTTG(G/T)TATTT utr-variant-3-prime
rs11885 -- 753,919(+) CCGGA(G/T)CCCCA reference, missense
rs718389 -- 874,384(+) AAGAT(A/G)TAACA intron-variant
rs724709 -- 789,234(+) TCATA(A/C)ATTTG intron-variant

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

Relevant External Links for WNK1 Gene

HapMap Linkage Disequilibrium report
WNK1
Human Gene Mutation Database (HGMD)
WNK1
Locus Specific Mutation Databases (LSDB)
WNK1

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

Disorders for WNK1 Gene

(2) OMIM Diseases for WNK1 Gene (605232)

UniProtKB/Swiss-Prot

WNK1_HUMAN
  • 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.
  • 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.

(4) University of Copenhagen DISEASES for WNK1 Gene

(8) Novoseek inferred disease relationships for WNK1 Gene

Disease -log(P) Hits PubMed IDs
pseudohypoaldosteronism 96.7 23
gordon syndrome 94.3 10
hyperkalemia 83.6 18
genetic hypertension 57.5 2
essential hypertension 55.6 4

Relevant External Links for WNK1

Genetic Association Database (GAD)
WNK1
Human Genome Epidemiology (HuGE) Navigator
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. Human hypertension caused by mutations in WNK kinases. (PMID: 11498583) Wilson F.H. … Lifton R.P. (Science 2001) 3 4 23
  2. WNK kinases, a novel protein kinase subfamily in multi-cellular organisms. (PMID: 11571656) Verissimo F. … Jordan P. (Oncogene 2001) 3 4 23
  3. Multiple promoters in the WNK1 gene: one controls expression of a kidney-specific kinase-defective isoform. (PMID: 14645531) Delaloy C. … Jeunemaitre X. (Mol. Cell. Biol. 2003) 3 4 23
  4. WNK1 kinase polymorphism and blood pressure response to a thiazide diuretic. (PMID: 16172412) Turner S.T. … Boerwinkle E. (Hypertension 2005) 3 23 48
  5. Common variation in the WNK1 gene and blood pressure in childhood: the Avon Longitudinal Study of Parents and Children. (PMID: 18809789) Tobin M.D. … Burton P.R. (Hypertension 2008) 3 23 48

Products for WNK1 Gene

  • Addgene plasmids for WNK1

Sources for WNK1 Gene

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