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

    Gene ID: 65125, updated on 25-May-2017
    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; Vega:OTTHUMG00000090321
    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]
    Orthologs
    Location:
    12p13.33
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (752552..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

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    Products Interactant Other Gene Complex Source Pubs Description

    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 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 IEA
    Inferred from Electronic Annotation
    more info
     
    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 IDA
    Inferred from Direct Assay
    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
    activation of protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intracellular signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    ion transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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
     
    neuron development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    peptidyl-threonine phosphorylation TAS
    Traceable Author Statement
    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 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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    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

    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, OTTHUMP00000237889, ENST00000535572.5, OTTHUMT00000398086
      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_018979.3NP_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, OTTHUMP00000115370, ENST00000315939.10, OTTHUMT00000206683
      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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

      Range
      752552..911452
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011520997.2XP_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

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      861230..1019755
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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