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    Jak1 Janus kinase 1 [ Mus musculus (house mouse) ]

    Gene ID: 16451, updated on 9-Dec-2024

    Summary

    Official Symbol
    Jak1provided by MGI
    Official Full Name
    Janus kinase 1provided by MGI
    Primary source
    MGI:MGI:96628
    See related
    Ensembl:ENSMUSG00000028530 AllianceGenome:MGI:96628
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    BAP004; C130039L05Rik
    Summary
    Enables growth hormone receptor binding activity and protein tyrosine kinase activity. Acts upstream of or within several processes, including cell surface receptor signaling pathway; cellular response to cytokine stimulus; and positive regulation of receptor signaling pathway via STAT. Predicted to be located in cytoplasm and nucleus. Predicted to be active in cytoplasmic side of plasma membrane and cytosol. Predicted to be extrinsic component of cytoplasmic side of plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; hemolymphoid system gland; and liver and biliary system. Used to study systemic lupus erythematosus. Human ortholog(s) of this gene implicated in T-cell acute lymphoblastic leukemia; carcinoma (multiple); gastrointestinal system cancer (multiple); and reproductive organ cancer (multiple). Orthologous to human JAK1 (Janus kinase 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in thymus adult (RPKM 28.5), spleen adult (RPKM 26.3) and 28 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Jak1 in Genome Data Viewer
    Location:
    4 C6; 4 46.19 cM
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (101009171..101122493, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (101151974..101265282, complement)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_10895 Neighboring gene predicted gene, 35956 Neighboring gene ribonucleoprotein, PTB-binding 2 Neighboring gene predicted gene, 22100 Neighboring gene STARR-positive B cell enhancer ABC_E6194 Neighboring gene predicted gene, 24468 Neighboring gene proteasome (prosome, macropain) subunit, beta type 2 pseudogene Neighboring gene predicted gene, 52754 Neighboring gene STARR-seq mESC enhancer starr_10896 Neighboring gene predicted gene, 25124 Neighboring gene STARR-positive B cell enhancer mm9_chr4:100965565-100965866 Neighboring gene predicted gene 12796

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC37919

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables CCR5 chemokine receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables growth hormone receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables growth hormone receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables growth hormone receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables histone H2AXY142 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3Y41 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables non-membrane spanning protein tyrosine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables non-membrane spanning protein tyrosine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables non-membrane spanning protein tyrosine kinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein phosphatase binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein tyrosine kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein tyrosine kinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein tyrosine kinase activity TAS
    Traceable Author Statement
    more info
     
    enables ubiquitin protein ligase binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell surface receptor signaling pathway via JAK-STAT IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell surface receptor signaling pathway via JAK-STAT ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cell surface receptor signaling pathway via JAK-STAT ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within cellular response to interleukin-3 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within cellular response to interleukin-7 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cytokine-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within cytokine-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within enzyme-linked receptor protein signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in growth hormone receptor signaling pathway via JAK-STAT IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in interleukin-10-mediated signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in interleukin-11-mediated signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in interleukin-15-mediated signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in interleukin-2-mediated signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in interleukin-2-mediated signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in interleukin-4-mediated signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in interleukin-6-mediated signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in interleukin-9-mediated signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within intracellular signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within peptidyl-tyrosine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of homotypic cell-cell adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of protein localization to nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of receptor signaling pathway via STAT IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of sprouting angiogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein localization to cell-cell junction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein phosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within response to antibiotic ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    involved_in type I interferon-mediated signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in type II interferon-mediated signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within tyrosine phosphorylation of STAT protein IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in cytoplasmic side of plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endomembrane system IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in extrinsic component of cytoplasmic side of plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    tyrosine-protein kinase JAK1
    Names
    JAK-1
    NP_038595.1
    NP_666257.2
    XP_006502875.1
    XP_030109122.1
    XP_030109123.1
    XP_030109125.1
    XP_036019634.1

    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.

    mRNA and Protein(s)

    1. NM_013567.1NP_038595.1  tyrosine-protein kinase JAK1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL627251, AL645668
      UniProtKB/TrEMBL
      Q3URU8
      Conserved Domains (5) summary
      cd05079
      Location:7681051
      PTKc_Jak1_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 1
      cd10378
      Location:426526
      SH2_Jak1; Src homology 2 (SH2) domain in the Janus kinase 1 (Jak1) proteins
      smart00295
      Location:37286
      B41; Band 4.1 homologues
      cd13332
      Location:282426
      FERM_C_JAK1; FERM domain C-lobe of Janus kinase 1
      cl21453
      Location:582750
      PKc_like; Protein Kinases, catalytic domain
    2. NM_146145.2NP_666257.2  tyrosine-protein kinase JAK1 isoform 1

      See identical proteins and their annotated locations for NP_666257.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK141210, AK152128, AL627251, AL645668
      Consensus CDS
      CCDS18393.1
      UniProtKB/TrEMBL
      B1ASP2, Q3URU8
      Related
      ENSMUSP00000099842.4, ENSMUST00000102781.10
      Conserved Domains (6) summary
      cd05079
      Location:8691152
      PTKc_Jak1_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 1
      cd10378
      Location:426526
      SH2_Jak1; Src homology 2 (SH2) domain in the Janus kinase 1 (Jak1) proteins
      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
      pfam18377
      Location:147277
      FERM_F2; FERM F2 acyl-CoA binding protein-like domain
      pfam18379
      Location:52129
      FERM_F1; FERM F1 ubiquitin-like domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      101009171..101122493 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030253263.2XP_030109123.1  tyrosine-protein kinase JAK1 isoform X1

      UniProtKB/TrEMBL
      B1ASP2, Q3URU8
      Conserved Domains (6) summary
      cd05079
      Location:8691152
      PTKc_Jak1_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 1
      cd10378
      Location:426526
      SH2_Jak1; Src homology 2 (SH2) domain in the Janus kinase 1 (Jak1) proteins
      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
      pfam18377
      Location:147277
      FERM_F2; FERM F2 acyl-CoA binding protein-like domain
      pfam18379
      Location:52129
      FERM_F1; FERM F1 ubiquitin-like domain
    2. XM_036163741.1XP_036019634.1  tyrosine-protein kinase JAK1 isoform X1

      UniProtKB/TrEMBL
      B1ASP2, Q3URU8
      Conserved Domains (6) summary
      cd05079
      Location:8691152
      PTKc_Jak1_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 1
      cd10378
      Location:426526
      SH2_Jak1; Src homology 2 (SH2) domain in the Janus kinase 1 (Jak1) proteins
      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
      pfam18377
      Location:147277
      FERM_F2; FERM F2 acyl-CoA binding protein-like domain
      pfam18379
      Location:52129
      FERM_F1; FERM F1 ubiquitin-like domain
    3. XM_030253265.2XP_030109125.1  tyrosine-protein kinase JAK1 isoform X2

      UniProtKB/TrEMBL
      Q8K0I7
      Conserved Domains (3) summary
      cd05079
      Location:473756
      PTKc_Jak1_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 1
      cd05077
      Location:186449
      PTK_Jak1_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 1
      cl15255
      Location:50130
      SH2; Src homology 2 (SH2) domain
    4. XM_006502812.5XP_006502875.1  tyrosine-protein kinase JAK1 isoform X1

      See identical proteins and their annotated locations for XP_006502875.1

      UniProtKB/TrEMBL
      B1ASP2, Q3URU8
      Conserved Domains (6) summary
      cd05079
      Location:8691152
      PTKc_Jak1_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 1
      cd10378
      Location:426526
      SH2_Jak1; Src homology 2 (SH2) domain in the Janus kinase 1 (Jak1) proteins
      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
      pfam18377
      Location:147277
      FERM_F2; FERM F2 acyl-CoA binding protein-like domain
      pfam18379
      Location:52129
      FERM_F1; FERM F1 ubiquitin-like domain
    5. XM_030253262.2XP_030109122.1  tyrosine-protein kinase JAK1 isoform X1

      UniProtKB/TrEMBL
      B1ASP2, Q3URU8
      Conserved Domains (6) summary
      cd05079
      Location:8691152
      PTKc_Jak1_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 1
      cd10378
      Location:426526
      SH2_Jak1; Src homology 2 (SH2) domain in the Janus kinase 1 (Jak1) proteins
      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
      pfam18377
      Location:147277
      FERM_F2; FERM F2 acyl-CoA binding protein-like domain
      pfam18379
      Location:52129
      FERM_F1; FERM F1 ubiquitin-like domain