Atlas of Genetics and Cytogenetics in Oncology and Haematology


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WNK1 (WNK lysine deficient protein kinase 1)

Identity

Alias_namesregulatory subunit 167
PRKWNK1
HSN2
Alias_symbol (synonym)HSAN2
PPP1R167
Other aliasKDP
PSK
p65
HGNC (Hugo) WNK1
LocusID (NCBI) 65125
Atlas_Id 54859
Location 12p13.33  [Link to chromosome band 12p13]
Location_base_pair Starts at 752923 and ends at 911452 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CCDC84 (11q23.3) / WNK1 (12p13.33)CSNK1D (17q25.3) / WNK1 (12p13.33)ERC1 (12p13.33) / WNK1 (12p13.33)
FGFR1 (8p11.23) / WNK1 (12p13.33)LAMC1 (1q25.3) / WNK1 (12p13.33)NUCKS1 (1q32.1) / WNK1 (12p13.33)
RAPGEF1 (9q34.13) / WNK1 (12p13.33)TCTN2 (12q24.31) / WNK1 (12p13.33)WNK1 (12p13.33) / ALDOC (17q11.2)
WNK1 (12p13.33) / B4GALNT3 (12p13.33)WNK1 (12p13.33) / CCDC77 (12p13.33)WNK1 (12p13.33) / CWC22 (2q31.3)
WNK1 (12p13.33) / DNAJC3 (13q32.1)WNK1 (12p13.33) / ERC1 (12p13.33)WNK1 (12p13.33) / IQSEC3 (12p13.33)
WNK1 (12p13.33) / KDM5A (12p13.33)WNK1 (12p13.33) / NR3C1 (5q31.3)WNK1 (12p13.33) / PIP4K2C (12q13.3)
WNK1 (12p13.33) / PRMT8 (12p13.32)WNK1 (12p13.33) / RAD52 (12p13.33)WNK1 (12p13.33) / STK38L (12p11.23)
WNK1 (12p13.33) / TCEB3 (1p36.11)ERC1 12p13.33 / WNK1 12p13.33WNK1 12p13.33 / B4GALNT3 12p13.33
WNK1 12p13.33 / CCDC77 12p13.33WNK1 12p13.33 / IQSEC3 12p13.33WNK1 12p13.33 / KDM5A 12p13.33
WNK1 12p13.33 / PIP4K2C 12q13.3WNK1 12p13.33 / PRMT8 12p13.32WNK1 12p13.33 / RAD52 12p13.33
WNK1 12p13.33 / STK38L 12p11.23

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)WNK1   14540
LRG (Locus Reference Genomic)LRG_247
Cards
Entrez_Gene (NCBI)WNK1  65125  WNK lysine deficient protein kinase 1
AliasesHSAN2; HSN2; KDP; PPP1R167; 
PRKWNK1; PSK; p65
GeneCards (Weizmann)WNK1
Ensembl hg19 (Hinxton)ENSG00000060237 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000060237 [Gene_View]  chr12:752923-911452 [Contig_View]  WNK1 [Vega]
ICGC DataPortalENSG00000060237
TCGA cBioPortalWNK1
AceView (NCBI)WNK1
Genatlas (Paris)WNK1
WikiGenes65125
SOURCE (Princeton)WNK1
Genetics Home Reference (NIH)WNK1
Genomic and cartography
GoldenPath hg38 (UCSC)WNK1  -     chr12:752923-911452 +  12p13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)WNK1  -     12p13.33   [Description]    (hg19-Feb_2009)
EnsemblWNK1 - 12p13.33 [CytoView hg19]  WNK1 - 12p13.33 [CytoView hg38]
Mapping of homologs : NCBIWNK1 [Mapview hg19]  WNK1 [Mapview hg38]
OMIM201300   605232   614492   
Gene and transcription
Genbank (Entrez)AB002342 AF061944 AI074334 AJ296290 AY231477
RefSeq transcript (Entrez)NM_001184985 NM_014823 NM_018979 NM_213655
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)WNK1
Cluster EST : UnigeneHs.744906 [ NCBI ]
CGAP (NCI)Hs.744906
Alternative Splicing GalleryENSG00000060237
Gene ExpressionWNK1 [ NCBI-GEO ]   WNK1 [ EBI - ARRAY_EXPRESS ]   WNK1 [ SEEK ]   WNK1 [ MEM ]
Gene Expression Viewer (FireBrowse)WNK1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)65125
GTEX Portal (Tissue expression)WNK1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H4A3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H4A3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H4A3
Splice isoforms : SwissVarQ9H4A3
Catalytic activity : Enzyme2.7.11.1 [ Enzyme-Expasy ]   2.7.11.12.7.11.1 [ IntEnz-EBI ]   2.7.11.1 [ BRENDA ]   2.7.11.1 [ KEGG ]   
PhosPhoSitePlusQ9H4A3
Domaine pattern : Prosite (Expaxy)PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)   
Domains : Interpro (EBI)Kinase-like_dom    Kinase_OSR1/WNK_CCT    Prot_kinase_dom    Ser/Thr_kinase_AS   
Domain families : Pfam (Sanger)OSR1_C (PF12202)    Pkinase (PF00069)   
Domain families : Pfam (NCBI)pfam12202    pfam00069   
Domain families : Smart (EMBL)S_TKc (SM00220)  
Conserved Domain (NCBI)WNK1
DMDM Disease mutations65125
Blocks (Seattle)WNK1
PDB (SRS)4PWN    5TF9   
PDB (PDBSum)4PWN    5TF9   
PDB (IMB)4PWN    5TF9   
PDB (RSDB)4PWN    5TF9   
Structural Biology KnowledgeBase4PWN    5TF9   
SCOP (Structural Classification of Proteins)4PWN    5TF9   
CATH (Classification of proteins structures)4PWN    5TF9   
SuperfamilyQ9H4A3
Human Protein AtlasENSG00000060237
Peptide AtlasQ9H4A3
HPRD05570
IPIIPI00004472   IPI01013396   IPI00397592   IPI00412748   IPI00972952   IPI01015340   IPI01012075   IPI00397591   IPI01018654   IPI01012989   IPI01012919   IPI01011721   IPI01011305   
Protein Interaction databases
DIP (DOE-UCLA)Q9H4A3
IntAct (EBI)Q9H4A3
FunCoupENSG00000060237
BioGRIDWNK1
STRING (EMBL)WNK1
ZODIACWNK1
Ontologies - Pathways
QuickGOQ9H4A3
Ontology : AmiGOmagnesium ion binding  regulation of sodium ion transport  positive regulation of systemic arterial blood pressure  protein kinase activity  protein serine/threonine kinase activity  protein serine/threonine kinase activity  protein binding  ATP binding  cytoplasm  cytosol  cytosol  cytosol  protein phosphorylation  protein phosphorylation  ion transport  negative regulation of phosphatase activity  membrane  peptidyl-threonine phosphorylation  chloride channel inhibitor activity  potassium channel inhibitor activity  protein kinase binding  phosphatase binding  signal transduction by trans-phosphorylation  protein serine/threonine kinase inhibitor activity  protein kinase activator activity  activation of protein kinase activity  intracellular signal transduction  intracellular signal transduction  protein autophosphorylation  neuron development  regulation of cellular process  negative regulation of protein serine/threonine kinase activity  negative regulation of pancreatic juice secretion  
Ontology : EGO-EBImagnesium ion binding  regulation of sodium ion transport  positive regulation of systemic arterial blood pressure  protein kinase activity  protein serine/threonine kinase activity  protein serine/threonine kinase activity  protein binding  ATP binding  cytoplasm  cytosol  cytosol  cytosol  protein phosphorylation  protein phosphorylation  ion transport  negative regulation of phosphatase activity  membrane  peptidyl-threonine phosphorylation  chloride channel inhibitor activity  potassium channel inhibitor activity  protein kinase binding  phosphatase binding  signal transduction by trans-phosphorylation  protein serine/threonine kinase inhibitor activity  protein kinase activator activity  activation of protein kinase activity  intracellular signal transduction  intracellular signal transduction  protein autophosphorylation  neuron development  regulation of cellular process  negative regulation of protein serine/threonine kinase activity  negative regulation of pancreatic juice secretion  
NDEx NetworkWNK1
Atlas of Cancer Signalling NetworkWNK1
Wikipedia pathwaysWNK1
Orthology - Evolution
OrthoDB65125
GeneTree (enSembl)ENSG00000060237
Phylogenetic Trees/Animal Genes : TreeFamWNK1
HOVERGENQ9H4A3
HOGENOMQ9H4A3
Homologs : HomoloGeneWNK1
Homology/Alignments : Family Browser (UCSC)WNK1
Gene fusions - Rearrangements
Fusion : MitelmanERC1/WNK1 [12p13.33/12p13.33]  [t(12;12)(p13;p13)]  
Fusion : MitelmanWNK1/B4GALNT3 [12p13.33/12p13.33]  [t(12;12)(p13;p13)]  
Fusion : MitelmanWNK1/CCDC77 [12p13.33/12p13.33]  [t(12;12)(p13;p13)]  
Fusion : MitelmanWNK1/IQSEC3 [12p13.33/12p13.33]  [t(12;12)(p13;p13)]  
Fusion : MitelmanWNK1/KDM5A [12p13.33/12p13.33]  [t(12;12)(p13;p13)]  
Fusion : MitelmanWNK1/PIP4K2C [12p13.33/12q13.3]  [t(12;12)(p13;q13)]  
Fusion : MitelmanWNK1/PRMT8 [12p13.33/12p13.32]  [t(12;12)(p13;p13)]  
Fusion : MitelmanWNK1/RAD52 [12p13.33/12p13.33]  [t(12;12)(p13;p13)]  
Fusion : MitelmanWNK1/STK38L [12p13.33/12p11.23]  [t(12;12)(p11;p13)]  
Fusion: TCGAERC1 12p13.33 WNK1 12p13.33 LUAD
Fusion: TCGAWNK1 12p13.33 B4GALNT3 12p13.33 LUAD
Fusion: TCGAWNK1 12p13.33 CCDC77 12p13.33 LUAD
Fusion: TCGAWNK1 12p13.33 IQSEC3 12p13.33 OV
Fusion: TCGAWNK1 12p13.33 KDM5A 12p13.33 BRCA
Fusion: TCGAWNK1 12p13.33 PIP4K2C 12q13.3 BRCA
Fusion: TCGAWNK1 12p13.33 PRMT8 12p13.32 BRCA
Fusion: TCGAWNK1 12p13.33 RAD52 12p13.33 LUAD
Fusion: TCGAWNK1 12p13.33 STK38L 12p11.23 LGG
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerWNK1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)WNK1
dbVarWNK1
ClinVarWNK1
1000_GenomesWNK1 
Exome Variant ServerWNK1
ExAC (Exome Aggregation Consortium)WNK1 (select the gene name)
Genetic variants : HAPMAP65125
Genomic Variants (DGV)WNK1 [DGVbeta]
DECIPHERWNK1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisWNK1 
Mutations
ICGC Data PortalWNK1 
TCGA Data PortalWNK1 
Broad Tumor PortalWNK1
OASIS PortalWNK1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICWNK1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDWNK1
intOGen PortalWNK1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch WNK1
DgiDB (Drug Gene Interaction Database)WNK1
DoCM (Curated mutations)WNK1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)WNK1 (select a term)
intoGenWNK1
Cancer3DWNK1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM201300    605232    614492   
Orphanet1290    11872   
MedgenWNK1
Genetic Testing Registry WNK1
NextProtQ9H4A3 [Medical]
TSGene65125
GENETestsWNK1
Target ValidationWNK1
Huge Navigator WNK1 [HugePedia]
snp3D : Map Gene to Disease65125
BioCentury BCIQWNK1
ClinGenWNK1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD65125
Chemical/Pharm GKB GenePA33782
Clinical trialWNK1
Miscellaneous
canSAR (ICR)WNK1 (select the gene name)
Probes
Litterature
PubMed127 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineWNK1
EVEXWNK1
GoPubMedWNK1
iHOPWNK1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 14:11:45 CEST 2017

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