WNK1 (WNK lysine deficient protein kinase 1)

2014-09-01  

Identity

HGNC
LOCATION
12p13.33
LOCUSID
ALIAS
HSAN2,HSN2,KDP,PPP1R167,PRKWNK1,PSK,p65
FUSION GENES

Other Information

Locus ID:

NCBI: 65125
MIM: 605232
HGNC: 14540
Ensembl: ENSG00000060237

Variants:

dbSNP: 65125
ClinVar: 65125
TCGA: ENSG00000060237
COSMIC: WNK1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000060237ENST00000315939Q9H4A3
ENSG00000060237ENST00000447667F6UYG0
ENSG00000060237ENST00000534872H0YH68
ENSG00000060237ENST00000535572F5GWT4
ENSG00000060237ENST00000535698H0YFP5
ENSG00000060237ENST00000543065H0YFK5
ENSG00000060237ENST00000544559H0YF81
ENSG00000060237ENST00000544965H0YFF1
ENSG00000060237ENST00000545285H0YH79
ENSG00000060237ENST00000574564A0A0B4J299
ENSG00000060237ENST00000574679I3L251

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Stimuli-sensing channelsREACTOMER-HSA-2672351

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA134875400WNK4GenePathwayassociated23788015
PA213KCNJ1GenePathwayassociated23788015
PA305SCNN1AGenePathwayassociated23788015
PA306SCNN1BGenePathwayassociated23788015
PA307SCNN1GGenePathwayassociated23788015
PA33784WNK3GenePathwayassociated23788015
PA38243STK39GenePathwayassociated23788015
PA444552HypertensionDiseaseClinicalAnnotationassociatedPD18591455
PA449899hydrochlorothiazideChemicalClinicalAnnotationassociatedPD18591455

References

Pubmed IDYearTitleCitations
162637222005WNK1 regulates phosphorylation of cation-chloride-coupled cotransporters via the STE20-related kinases, SPAK and OSR1.168
166697872006Functional interactions of the SPAK/OSR1 kinases with their upstream activator WNK1 and downstream substrate NKCC1.96
248035362014Chloride sensing by WNK1 involves inhibition of autophosphorylation.91
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
164282872006Antagonistic regulation of ROMK by long and kidney-specific WNK1 isoforms.74
168320452006WNK1 and OSR1 regulate the Na+, K+, 2Cl- cotransporter in HeLa cells.71
173802082007Intersectin links WNK kinases to endocytosis of ROMK1.71
171907912007Regulation of activity and localization of the WNK1 protein kinase by hyperosmotic stress.66
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
146455312003Multiple promoters in the WNK1 gene: one controls expression of a kidney-specific kinase-defective isoform.56

Citation

Dessen P

WNK1 (WNK lysine deficient protein kinase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-09-01

Online version: http://atlasgeneticsoncology.org/gene/54859/wnk1-(wnk-lysine-deficient-protein-kinase-1)