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WNK1 WNK lysine deficient protein kinase 1 [ Homo sapiens (human) ]

Gene ID: 65125, updated on 13-Jan-2019

Summary

Official Symbol
WNK1provided by HGNC
Official Full Name
WNK lysine deficient protein kinase 1provided by HGNC
Primary source
HGNC:HGNC:14540
See related
Ensembl:ENSG00000060237 MIM:605232
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KDP; PSK; p65; HSN2; HSAN2; PRKWNK1; PPP1R167
Summary
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]
Expression
Ubiquitous expression in kidney (RPKM 30.2), fat (RPKM 24.6) and 25 other tissues See more
Orthologs

Genomic context

See WNK1 in Genome Data Viewer
Location:
12p13.33
Exon count:
31
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (752593..911452)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (861759..1020618)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100049716 Neighboring gene ninjurin 2 Neighboring gene uncharacterized LOC101929432 Neighboring gene long intergenic non-protein coding RNA 2455 Neighboring gene RNA, U4atac small nuclear 16, pseudogene Neighboring gene RAD52 homolog, DNA repair protein Neighboring gene ELKS/RAB6-interacting/CAST family member 1 Neighboring gene 5-hydroxytryptamine receptor 1D pseudogene 1 Neighboring gene uncharacterized LOC107987182

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of WNK lysine deficient protein kinase 1 (WNK1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed
Knockdown of WNK lysine deficient protein kinase 1 (WNK1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0344, MGC163339, MGC163341

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
chloride channel inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chloride channel inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
magnesium ion binding IEA
Inferred from Electronic Annotation
more info
 
phosphatase binding IDA
Inferred from Direct Assay
more info
PubMed 
potassium channel inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase activator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein serine/threonine kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
protein serine/threonine kinase activity TAS
Traceable Author Statement
more info
PubMed 
protein serine/threonine kinase inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
T cell receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
activation of protein kinase activity IEA
Inferred from Electronic Annotation
more info
 
cellular response to calcium ion IEA
Inferred from Electronic Annotation
more info
 
cellular response to chemokine IMP
Inferred from Mutant Phenotype
more info
PubMed 
chemokine (C-C motif) ligand 21 signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
intracellular signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
intracellular signal transduction TAS
Traceable Author Statement
more info
PubMed 
ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ion transport ISS
Inferred from Sequence or Structural Similarity
more info
 
lymphocyte migration into lymph node ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
negative regulation of GTPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell-cell adhesion mediated by integrin IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of heterotypic cell-cell adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of leukocyte cell-cell adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of pancreatic juice secretion IEA
Inferred from Electronic Annotation
more info
 
negative regulation of phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of sodium ion transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron development NAS
Non-traceable Author Statement
more info
PubMed 
peptidyl-serine phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
peptidyl-threonine phosphorylation TAS
Traceable Author Statement
more info
PubMed 
positive regulation of T cell chemotaxis IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of ion transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of potassium ion import IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of sodium ion transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of systemic arterial blood pressure IEA
Inferred from Electronic Annotation
more info
 
protein autophosphorylation IEA
Inferred from Electronic Annotation
more info
 
protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cellular process ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of sodium ion transport ISS
Inferred from Sequence or Structural Similarity
more info
 
signal transduction by trans-phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
serine/threonine-protein kinase WNK1
Names
WNK lysine deficient protein kinase 1 isoform
erythrocyte 65 kDa protein
prostate-derived sterile 20-like kinase
protein kinase with no lysine 1
protein phosphatase 1, regulatory subunit 167
serine/threonine-protein kinase WNK1 1
serine/threonine-protein kinase WNK1 2
NP_001171914.1
NP_055638.2
NP_061852.3
NP_998820.3
XP_006719066.1
XP_011519299.1
XP_011519300.1
XP_011519301.1
XP_011519302.1
XP_011519303.1
XP_011519304.1
XP_011519305.1
XP_011519306.1
XP_011519307.1
XP_011519308.1
XP_011519309.1
XP_011519310.1
XP_011519311.1
XP_016875323.1
XP_016875324.1
XP_016875325.1
XP_016875326.1
XP_016875327.1
XP_016875328.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007984.3 RefSeqGene

    Range
    4865..163394
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001184985.1NP_001171914.1  serine/threonine-protein kinase WNK1 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has multiple differences in the coding region but maintains the reading frame compared to variant 1. This variant represents the exon combination of the dorsal root ganglia and sciatic nerve variant described in Figure 2F of PubMed ID 18521183. This variant encodes isoform 4, which is longer than isoform 1.
    Source sequence(s)
    AC004765, AC004803
    UniProtKB/Swiss-Prot
    Q9H4A3
    Related
    ENSP00000444465.1, ENST00000537687.5
    Conserved Domains (3) summary
    smart00220
    Location:226479
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14030
    Location:195483
    STKc_WNK1; Catalytic domain of the Serine/Threonine protein kinase, With No Lysine (WNK) 1
    pfam12202
    Location:500537
    OSR1_C; Oxidative-stress-responsive kinase 1 C terminal
  2. NM_014823.2NP_055638.2  serine/threonine-protein kinase WNK1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses two alternative splice sites and lacks two exons in the coding region compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1.
    Source sequence(s)
    AB002342, AC004765, AC004803, AI074334, AJ296290, BC141881, BX644268, CD629562, DA720959
    Consensus CDS
    CCDS53731.1
    UniProtKB/Swiss-Prot
    Q9H4A3
    UniProtKB/TrEMBL
    A5D8Z4, F5GWT4
    Related
    ENSP00000441972.1, ENST00000535572.5
    Conserved Domains (3) summary
    smart00220
    Location:226479
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14030
    Location:195483
    STKc_WNK1; Catalytic domain of the Serine/Threonine protein kinase, With No Lysine (WNK) 1
    pfam12202
    Location:500537
    OSR1_C; Oxidative-stress-responsive kinase 1 C terminal
  3. NM_018979.4NP_061852.3  serine/threonine-protein kinase WNK1 isoform 1

    See identical proteins and their annotated locations for NP_061852.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the most common isoform (1), as indicated in PubMed ID 18521183.
    Source sequence(s)
    AB002342, AC004765, AC004803, AI074334, AJ296290, BC141881, BX644268, CD629562, DA720959
    Consensus CDS
    CCDS8506.1
    UniProtKB/Swiss-Prot
    Q9H4A3
    UniProtKB/TrEMBL
    A5D8Z4
    Related
    ENSP00000313059.6, ENST00000315939.10
    Conserved Domains (3) summary
    smart00220
    Location:226479
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14030
    Location:195483
    STKc_WNK1; Catalytic domain of the Serine/Threonine protein kinase, With No Lysine (WNK) 1
    pfam12202
    Location:500537
    OSR1_C; Oxidative-stress-responsive kinase 1 C terminal
  4. NM_213655.4NP_998820.3  serine/threonine-protein kinase WNK1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has multiple differences in the coding region but maintains the reading frame compared to variant 1. This variant represents the exon combination of the brain and spinal cord variant described in Figure 2F of PubMed ID 18521183. This variant encodes isoform 3, which is longer than isoform 1.
    Source sequence(s)
    AC004765, AC004803
    Consensus CDS
    CCDS73419.1
    UniProtKB/Swiss-Prot
    Q9H4A3
    Related
    ENSP00000341292.5, ENST00000340908.8
    Conserved Domains (3) summary
    smart00220
    Location:226479
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14030
    Location:195483
    STKc_WNK1; Catalytic domain of the Serine/Threonine protein kinase, With No Lysine (WNK) 1
    pfam12202
    Location:500537
    OSR1_C; Oxidative-stress-responsive kinase 1 C terminal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    752593..911452
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011520997.3XP_011519299.1  serine/threonine-protein kinase WNK1 isoform X1

    Related
    ENSP00000433548.3, ENST00000530271.6
    Conserved Domains (3) summary
    smart00220
    Location:226479
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14030
    Location:195483
    STKc_WNK1; Catalytic domain of the Serine/Threonine protein kinase, With No Lysine (WNK) 1
    pfam12202
    Location:500537
    OSR1_C; Oxidative-stress-responsive kinase 1 C terminal
  2. XM_011521000.2XP_011519302.1  serine/threonine-protein kinase WNK1 isoform X4

    Conserved Domains (3) summary
    smart00220
    Location:226479
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14030
    Location:195483
    STKc_WNK1; Catalytic domain of the Serine/Threonine protein kinase, With No Lysine (WNK) 1
    pfam12202
    Location:500537
    OSR1_C; Oxidative-stress-responsive kinase 1 C terminal
  3. XM_011520999.2XP_011519301.1  serine/threonine-protein kinase WNK1 isoform X3

    Conserved Domains (3) summary
    smart00220
    Location:226479
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14030
    Location:195483
    STKc_WNK1; Catalytic domain of the Serine/Threonine protein kinase, With No Lysine (WNK) 1
    pfam12202
    Location:500537
    OSR1_C; Oxidative-stress-responsive kinase 1 C terminal
  4. XM_011521001.2XP_011519303.1  serine/threonine-protein kinase WNK1 isoform X5

    Conserved Domains (3) summary
    smart00220
    Location:226479
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14030
    Location:195483
    STKc_WNK1; Catalytic domain of the Serine/Threonine protein kinase, With No Lysine (WNK) 1
    pfam12202
    Location:500537
    OSR1_C; Oxidative-stress-responsive kinase 1 C terminal
  5. XM_011521003.2XP_011519305.1  serine/threonine-protein kinase WNK1 isoform X7

    Conserved Domains (3) summary
    smart00220
    Location:226479
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14030
    Location:195483
    STKc_WNK1; Catalytic domain of the Serine/Threonine protein kinase, With No Lysine (WNK) 1
    pfam12202
    Location:500537
    OSR1_C; Oxidative-stress-responsive kinase 1 C terminal
  6. XM_011520998.2XP_011519300.1  serine/threonine-protein kinase WNK1 isoform X2

    Conserved Domains (3) summary
    smart00220
    Location:226479
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14030
    Location:195483
    STKc_WNK1; Catalytic domain of the Serine/Threonine protein kinase, With No Lysine (WNK) 1
    pfam12202
    Location:500537
    OSR1_C; Oxidative-stress-responsive kinase 1 C terminal
  7. XM_011521002.2XP_011519304.1  serine/threonine-protein kinase WNK1 isoform X6

    Conserved Domains (3) summary
    smart00220
    Location:226479
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14030
    Location:195483
    STKc_WNK1; Catalytic domain of the Serine/Threonine protein kinase, With No Lysine (WNK) 1
    pfam12202
    Location:500537
    OSR1_C; Oxidative-stress-responsive kinase 1 C terminal
  8. XM_011521004.2XP_011519306.1  serine/threonine-protein kinase WNK1 isoform X8

    Conserved Domains (3) summary
    smart00220
    Location:226479
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14030
    Location:195483
    STKc_WNK1; Catalytic domain of the Serine/Threonine protein kinase, With No Lysine (WNK) 1
    pfam12202
    Location:500537
    OSR1_C; Oxidative-stress-responsive kinase 1 C terminal
  9. XM_017019837.1XP_016875326.1  serine/threonine-protein kinase WNK1 isoform X16

    UniProtKB/Swiss-Prot
    Q9H4A3
    Conserved Domains (3) summary
    smart00220
    Location:226479
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14030
    Location:195483
    STKc_WNK1; Catalytic domain of the Serine/Threonine protein kinase, With No Lysine (WNK) 1
    pfam12202
    Location:500537
    OSR1_C; Oxidative-stress-responsive kinase 1 C terminal
  10. XM_006719003.2XP_006719066.1  serine/threonine-protein kinase WNK1 isoform X10

    Conserved Domains (3) summary
    smart00220
    Location:226479
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14030
    Location:195483
    STKc_WNK1; Catalytic domain of the Serine/Threonine protein kinase, With No Lysine (WNK) 1
    pfam12202
    Location:500537
    OSR1_C; Oxidative-stress-responsive kinase 1 C terminal
  11. XM_017019834.1XP_016875323.1  serine/threonine-protein kinase WNK1 isoform X13

  12. XM_017019838.1XP_016875327.1  serine/threonine-protein kinase WNK1 isoform X17

    UniProtKB/Swiss-Prot
    Q9H4A3
  13. XM_011521006.2XP_011519308.1  serine/threonine-protein kinase WNK1 isoform X11

    Conserved Domains (3) summary
    smart00220
    Location:226479
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14030
    Location:195483
    STKc_WNK1; Catalytic domain of the Serine/Threonine protein kinase, With No Lysine (WNK) 1
    pfam12202
    Location:500537
    OSR1_C; Oxidative-stress-responsive kinase 1 C terminal
  14. XM_017019835.1XP_016875324.1  serine/threonine-protein kinase WNK1 isoform X14

  15. XM_011521008.2XP_011519310.1  serine/threonine-protein kinase WNK1 isoform X18

    Conserved Domains (3) summary
    smart00220
    Location:226479
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14030
    Location:195483
    STKc_WNK1; Catalytic domain of the Serine/Threonine protein kinase, With No Lysine (WNK) 1
    pfam12202
    Location:500537
    OSR1_C; Oxidative-stress-responsive kinase 1 C terminal
  16. XM_017019839.1XP_016875328.1  serine/threonine-protein kinase WNK1 isoform X20

  17. XM_011521007.2XP_011519309.1  serine/threonine-protein kinase WNK1 isoform X12

    Conserved Domains (3) summary
    smart00220
    Location:226479
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14030
    Location:195483
    STKc_WNK1; Catalytic domain of the Serine/Threonine protein kinase, With No Lysine (WNK) 1
    pfam12202
    Location:500537
    OSR1_C; Oxidative-stress-responsive kinase 1 C terminal
  18. XM_017019836.1XP_016875325.1  serine/threonine-protein kinase WNK1 isoform X15

  19. XM_011521009.2XP_011519311.1  serine/threonine-protein kinase WNK1 isoform X19

    Conserved Domains (3) summary
    smart00220
    Location:226479
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14030
    Location:195483
    STKc_WNK1; Catalytic domain of the Serine/Threonine protein kinase, With No Lysine (WNK) 1
    pfam12202
    Location:500537
    OSR1_C; Oxidative-stress-responsive kinase 1 C terminal
  20. XM_011521005.2XP_011519307.1  serine/threonine-protein kinase WNK1 isoform X9

    Conserved Domains (3) summary
    pfam12202
    Location:93130
    OSR1_C; Oxidative-stress-responsive kinase 1 C terminal
    cl21453
    Location:2876
    PKc_like; Protein Kinases, catalytic domain
    cl23716
    Location:924996
    metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
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