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    JAK1 Janus kinase 1 [ Homo sapiens (human) ]

    Gene ID: 3716, updated on 17-Oct-2021

    Summary

    Official Symbol
    JAK1provided by HGNC
    Official Full Name
    Janus kinase 1provided by HGNC
    Primary source
    HGNC:HGNC:6190
    See related
    Ensembl:ENSG00000162434 MIM:147795
    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
    JTK3; AIIDE; JAK1A; JAK1B
    Summary
    This gene encodes a membrane protein that is a member of a class of protein-tyrosine kinases (PTK) characterized by the presence of a second phosphotransferase-related domain immediately N-terminal to the PTK domain. The encoded kinase phosphorylates STAT proteins (signal transducers and activators of transcription) and plays a key role in interferon-alpha/beta, interferon-gamma, and cytokine signal transduction. This gene plays a crucial role in effecting the expression of genes that mediate inflammation, epithelial remodeling, and metastatic cancer progression. This gene is a key component of the interleukin-6 (IL-6)/JAK1/STAT3 immune and inflammation response and is a therapeutic target for alleviating cytokine storms. The kinase activity of this gene is directly inhibited by the suppressor of cytokine signalling 1 (SOCS1) protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2020]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for COVID-19 treatment.
    Expression
    Ubiquitous expression in lymph node (RPKM 51.3), fat (RPKM 49.8) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See JAK1 in Genome Data Viewer
    Location:
    1p31.3
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (64833229..65067746, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (65298912..65533429, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984966 Neighboring gene cache domain containing 1 Neighboring gene microRNA 4794 Neighboring gene ribonucleoprotein, PTB binding 2 Neighboring gene Sharpr-MPRA regulatory region 6411 Neighboring gene NDUFA4, mitochondrial complex associated pseudogene Neighboring gene Sharpr-MPRA regulatory region 2453 Neighboring gene long intergenic non-protein coding RNA 1359 Neighboring gene solute carrier family 2 member 3 pseudogene 2 Neighboring gene RNA, U6 small nuclear 1176, pseudogene Neighboring gene ribosomal protein S24 pseudogene Neighboring gene microRNA 101-1 Neighboring gene microRNA 3671 Neighboring gene mitochondrial ribosomal protein S21 pseudogene 1

    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 Functions

    What's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of Janus kinase 1 (JAK1) by siRNAs significantly enhances HIV-1 replication in human acute monocytic leukemia cells PubMed
    Knockdown of Janus kinase 1 (JAK1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed
    Knockdown of Janus kinase 1 (JAK1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env The transcription factors and kinases c-Jun, JNK, MEK, p38 MAPK, STAT-3, JAK-1, TFII D, TFII F, eIF-4E, and RNA polymerase II are induced by HIV-1 gp120 PubMed
    Tat tat HIV-1 Tat-induced upregulation of IDO production requires the activity of IFN-gamma signaling pathway such as JAK and PI3K in human monocyte derived-dendritic cells PubMed
    tat Knockdown of JAK1 by siRNAs inhibits HIV LTR-beta-gal activation in the Tat transactivation assay PubMed
    tat HIV-1 Tat-mediated activation of PIK3R1 hypothetically induces the modulation of JAK1 PubMed
    matrix gag Exposure of human acute monocytic leukemia cells THP-1 to HIV-1 MA activates the syndecan-2/RACK-1/Jak-1 signal pathway, leading to STAT-1 phosphorylation PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables CCR5 chemokine receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables growth hormone receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables growth hormone receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables non-membrane spanning protein tyrosine kinase activity TAS
    Traceable Author Statement
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein phosphatase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein tyrosine kinase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables protein tyrosine kinase activity TAS
    Traceable Author Statement
    more info
     
    enables transmembrane receptor protein tyrosine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cytokine-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cytokine-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    involved_in interferon-gamma-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    involved_in interleukin-2-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in interleukin-2-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    involved_in interleukin-6-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    involved_in intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in peptidyl-tyrosine phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of homotypic cell-cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of sprouting angiogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in protein localization to cell-cell junction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in receptor signaling pathway via JAK-STAT IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within response to antibiotic IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in type I interferon signaling pathway TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endosome TAS
    Traceable Author Statement
    more info
     
    located_in focal adhesion HDA PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    tyrosine-protein kinase JAK1
    NP_001307852.1
    NP_001308781.1
    NP_001308782.1
    NP_001308783.1
    NP_001308784.1
    NP_001308785.1
    NP_001308786.1
    NP_002218.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_023402.2 RefSeqGene

      Range
      106198..239518
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1398

    mRNA and Protein(s)

    1. NM_001320923.2NP_001307852.1  tyrosine-protein kinase JAK1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC093427, AK314257, BC062431, BC132729
      Consensus CDS
      CCDS41346.1
      UniProtKB/Swiss-Prot
      P23458
      UniProtKB/TrEMBL
      Q6P669
      Related
      ENSP00000500485.1, ENST00000671929.1
      Conserved Domains (7) summary
      cd05079
      Location:8701153
      PTKc_Jak1_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 1
      smart00219
      Location:8751149
      TyrKc; Tyrosine kinase, catalytic domain
      smart00295
      Location:37286
      B41; Band 4.1 homologues
      cd05077
      Location:583846
      PTK_Jak1_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 1
      cd13332
      Location:282426
      FERM_C_JAK1; FERM domain C-lobe of Janus kinase 1
      pfam07714
      Location:583845
      Pkinase_Tyr; Protein tyrosine kinase
      cl15255
      Location:426527
      SH2; Src homology 2 (SH2) domain
    2. NM_001321852.2NP_001308781.1  tyrosine-protein kinase JAK1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) initiates from an upstream promoter compared to variant 1.
      Source sequence(s)
      AC093427, AL357078
      Consensus CDS
      CCDS41346.1
      UniProtKB/Swiss-Prot
      P23458
      Related
      ENSP00000500841.1, ENST00000671954.1
      Conserved Domains (7) summary
      cd05079
      Location:8701153
      PTKc_Jak1_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 1
      smart00219
      Location:8751149
      TyrKc; Tyrosine kinase, catalytic domain
      smart00295
      Location:37286
      B41; Band 4.1 homologues
      cd05077
      Location:583846
      PTK_Jak1_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 1
      cd13332
      Location:282426
      FERM_C_JAK1; FERM domain C-lobe of Janus kinase 1
      pfam07714
      Location:583845
      Pkinase_Tyr; Protein tyrosine kinase
      cl15255
      Location:426527
      SH2; Src homology 2 (SH2) domain
    3. NM_001321853.2NP_001308782.1  tyrosine-protein kinase JAK1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) initiates from an upstream promoter compared to variant 1.
      Source sequence(s)
      AC093427, AL357078, AL606517
      Consensus CDS
      CCDS41346.1
      UniProtKB/Swiss-Prot
      P23458
      Related
      ENSP00000499900.1, ENST00000672434.1
      Conserved Domains (7) summary
      cd05079
      Location:8701153
      PTKc_Jak1_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 1
      smart00219
      Location:8751149
      TyrKc; Tyrosine kinase, catalytic domain
      smart00295
      Location:37286
      B41; Band 4.1 homologues
      cd05077
      Location:583846
      PTK_Jak1_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 1
      cd13332
      Location:282426
      FERM_C_JAK1; FERM domain C-lobe of Janus kinase 1
      pfam07714
      Location:583845
      Pkinase_Tyr; Protein tyrosine kinase
      cl15255
      Location:426527
      SH2; Src homology 2 (SH2) domain
    4. NM_001321854.2NP_001308783.1  tyrosine-protein kinase JAK1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) initiates from an upstream promoter compared to variant 1.
      Source sequence(s)
      AC093427, AL357078
      Consensus CDS
      CCDS41346.1
      UniProtKB/Swiss-Prot
      P23458
      Conserved Domains (7) summary
      cd05079
      Location:8701153
      PTKc_Jak1_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 1
      smart00219
      Location:8751149
      TyrKc; Tyrosine kinase, catalytic domain
      smart00295
      Location:37286
      B41; Band 4.1 homologues
      cd05077
      Location:583846
      PTK_Jak1_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 1
      cd13332
      Location:282426
      FERM_C_JAK1; FERM domain C-lobe of Janus kinase 1
      pfam07714
      Location:583845
      Pkinase_Tyr; Protein tyrosine kinase
      cl15255
      Location:426527
      SH2; Src homology 2 (SH2) domain
    5. NM_001321855.2NP_001308784.1  tyrosine-protein kinase JAK1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC093427, AL606517
      Consensus CDS
      CCDS41346.1
      UniProtKB/Swiss-Prot
      P23458
      Related
      ENSP00000499884.1, ENST00000672247.1
      Conserved Domains (7) summary
      cd05079
      Location:8701153
      PTKc_Jak1_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 1
      smart00219
      Location:8751149
      TyrKc; Tyrosine kinase, catalytic domain
      smart00295
      Location:37286
      B41; Band 4.1 homologues
      cd05077
      Location:583846
      PTK_Jak1_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 1
      cd13332
      Location:282426
      FERM_C_JAK1; FERM domain C-lobe of Janus kinase 1
      pfam07714
      Location:583845
      Pkinase_Tyr; Protein tyrosine kinase
      cl15255
      Location:426527
      SH2; Src homology 2 (SH2) domain
    6. NM_001321856.2NP_001308785.1  tyrosine-protein kinase JAK1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC093427, AL606517
      Consensus CDS
      CCDS41346.1
      UniProtKB/Swiss-Prot
      P23458
      Related
      ENSP00000500296.1, ENST00000672179.1
      Conserved Domains (7) summary
      cd05079
      Location:8701153
      PTKc_Jak1_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 1
      smart00219
      Location:8751149
      TyrKc; Tyrosine kinase, catalytic domain
      smart00295
      Location:37286
      B41; Band 4.1 homologues
      cd05077
      Location:583846
      PTK_Jak1_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 1
      cd13332
      Location:282426
      FERM_C_JAK1; FERM domain C-lobe of Janus kinase 1
      pfam07714
      Location:583845
      Pkinase_Tyr; Protein tyrosine kinase
      cl15255
      Location:426527
      SH2; Src homology 2 (SH2) domain
    7. NM_001321857.2NP_001308786.1  tyrosine-protein kinase JAK1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC093427, AL606517
      Conserved Domains (7) summary
      cd05079
      Location:8691152
      PTKc_Jak1_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 1
      smart00219
      Location:8741148
      TyrKc; Tyrosine kinase, catalytic domain
      smart00295
      Location:37286
      B41; Band 4.1 homologues
      cd05077
      Location:582845
      PTK_Jak1_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 1
      cd13332
      Location:282426
      FERM_C_JAK1; FERM domain C-lobe of Janus kinase 1
      pfam07714
      Location:582844
      Pkinase_Tyr; Protein tyrosine kinase
      cl15255
      Location:426526
      SH2; Src homology 2 (SH2) domain
    8. NM_002227.4NP_002218.2  tyrosine-protein kinase JAK1 isoform 1

      See identical proteins and their annotated locations for NP_002218.2

      Status: REVIEWED

      Source sequence(s)
      AB209057, AC093427, AL606517, BC009079
      Consensus CDS
      CCDS41346.1
      UniProtKB/Swiss-Prot
      P23458
      Related
      ENSP00000343204.4, ENST00000342505.5
      Conserved Domains (7) summary
      cd05079
      Location:8701153
      PTKc_Jak1_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 1
      smart00219
      Location:8751149
      TyrKc; Tyrosine kinase, catalytic domain
      smart00295
      Location:37286
      B41; Band 4.1 homologues
      cd05077
      Location:583846
      PTK_Jak1_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 1
      cd13332
      Location:282426
      FERM_C_JAK1; FERM domain C-lobe of Janus kinase 1
      pfam07714
      Location:583845
      Pkinase_Tyr; Protein tyrosine kinase
      cl15255
      Location:426527
      SH2; Src homology 2 (SH2) domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      64833229..65067746 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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