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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

JAK1 Gene

protein-coding   GIFtS: 74
GCID: GC01M065247

Janus Kinase 1


(Previous symbol: JAK1B)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Janus Kinase 11 2 3     JTK32
JAK1B1 2 3     Tyrosine-Protein Kinase JAK12
JAK1A2 3     JAK-13
EC 2.7.10.23 8     EC 2.7.108

External Ids:    HGNC: 61901   Entrez Gene: 37162   Ensembl: ENSG000001624347   OMIM: 1477955   UniProtKB: P234583   

Export aliases for JAK1 gene to outside databases

Previous GC identifers: GC01M064219 GC01M064656 GC01M064670 GC01M064668 GC01M065010 GC01M063407


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for JAK1 Gene:
Janus kinase 1 (JAK1), is a member of a new class of protein-tyrosine kinases (PTK) characterized by the presence
of a second phosphotransferase-related domain immediately N-terminal to the PTK domain. The second
phosphotransferase domain bears all the hallmarks of a protein kinase, although its structure differs
significantly from that of the PTK and threonine/serine kinase family members. JAK1 is a large, widely expressed
membrane-associated phosphoprotein. JAK1 is involved in the interferon-alpha/beta and -gamma signal transduction
pathways. The reciprocal interdependence between JAK1 and TYK2 activities in the interferon-alpha pathway, and
between JAK1 and JAK2 in the interferon-gamma pathway, may reflect a requirement for these kinases in the correct
assembly of interferon receptor complexes. These kinases couple cytokine ligand binding to tyrosine
phosphorylation of various known signaling proteins and of a unique family of transcription factors termed the
signal transducers and activators of transcription, or STATs. (provided by RefSeq, Jul 2008)

GeneCards Summary for JAK1 Gene: 
JAK1 (Janus kinase 1) is a protein-coding gene. Diseases associated with JAK1 include polycythemia vera, and polycythemia, and among its related super-pathways are IL-9 Signaling Pathways and Immune response IFN alpha/beta signaling pathway. GO annotations related to this gene include growth hormone receptor binding and protein tyrosine kinase activity. An important paralog of this gene is SYK.

UniProtKB/Swiss-Prot: JAK1_HUMAN, P23458
Function: Tyrosine kinase of the non-receptor type, involved in the IFN-alpha/beta/gamma signal pathway. Kinase
partner for the interleukin (IL)-2 receptor

Gene Wiki entry for JAK1 (Janus kinase 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the JAK1 gene promoter:
         POU2F2 (Oct-2.1)   Oct-B1   oct-B3   oct-B2   POU2F2   POU2F2C   POU2F1   POU2F1a   ZID   POU2F2B   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): JAK1 promoter sequence
   Search SABiosciences Chromatin IP Primers for JAK1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat JAK1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p32.3-p31.3   Ensembl cytogenetic band:  1p31.3   HGNC cytogenetic band: 1p32.3-p31.3

JAK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
JAK1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M065247:  view genomic region     (about GC identifiers)

Start:
65,298,906 bp from pter      End:
65,432,187 bp from pter
Size:
133,282 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: JAK1_HUMAN, P23458 (See protein sequence)
Recommended Name: Tyrosine-protein kinase JAK1  
Size: 1154 amino acids; 133277 Da
Subunit: Interacts with FER (By similarity). Interacts with IL31RA, IFNAR2, JAKMIP1 and SHB
Subcellular location: Endomembrane system; Peripheral membrane protein. Note=Wholly intracellular, possibly
membrane associated
Sequence caution: Sequence=AAA36527.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAA36527.1; Type=Frameshift; Positions=858, 862;
6/13 PDB 3D structures from and Proteopedia for JAK1 (see all 13):
3EYG (3D)        3EYH (3D)        4E4L (3D)        4E4N (3D)        4E5W (3D)        4EHZ (3D)    
Secondary accessions: Q59GQ2 Q9UD26

Explore the universe of human proteins at neXtProt for JAK1: NX_P23458

Explore proteomics data for JAK1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P23458

  • 4/11 DME Specific Peptides for JAK1 (P23458) (see all 11)
     DAHHYLC  RDLAARN  AARNVLV  ECLGMAVL 

    JAK1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    JAK1 Protein Expression
    REFSEQ proteins: NP_002218.2  
    ENSEMBL proteins: 
     ENSP00000343204  
    Reactome Protein details: P23458
    Human Recombinant Protein Products for JAK1: 
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    Novus Biologicals JAK1 Protein
    Novus Biologicals JAK1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for JAK1 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA10502458
    GO:0005737cytoplasm IDA10502458
    GO:0005829cytosol TAS--
    GO:0005856cytoskeleton IEA--
    GO:0012505endomembrane system IEA--

    JAK1 for ontologies           About GeneDecksing



    JAK1 Antibody Products: 
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    Assay Products for JAK1: 
    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for JAK1 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: Janus kinase 1 
    Janus kinase (JakA) family

    5/12 InterPro protein domains (see all 12):
     IPR019748 FERM_central
     IPR017441 Protein_kinase_ATP_BS
     IPR011009 Kinase-like_dom
     IPR000719 Prot_kinase_cat_dom
     IPR020776 Tyr_kinase_non-rcpt_Jak1

    Graphical View of Domain Structure for InterPro Entry P23458

    ProtoNet protein and cluster: P23458

    2 Blocks protein domains:
    IPB008266 Tyrosine protein kinase
    IPB009127 Janus kinase family signature


    UniProtKB/Swiss-Prot: JAK1_HUMAN, P23458
    Domain: Possesses two phosphotransferase domains. The second one probably contains the catalytic domain (By
    similarity), while the presence of slight differences suggest a different role for domain 1
    Domain: The FERM domain mediates interaction with JAKMIP1
    Similarity: Belongs to the protein kinase superfamily. Tyr protein kinase family. JAK subfamily
    Similarity: Contains 1 FERM domain
    Similarity: Contains 2 protein kinase domains
    Similarity: Contains 1 SH2 domain


    JAK1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: JAK1_HUMAN, P23458
    Function: Tyrosine kinase of the non-receptor type, involved in the IFN-alpha/beta/gamma signal pathway. Kinase
    partner for the interleukin (IL)-2 receptor
    Catalytic activity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate

         Genatlas biochemistry entry for JAK1:
    Janus tyrosine kinase 1A,non receptor type,class III,murine FD-22 homolog,widely expressed,involved in signal
    transduction of several hematopoietic cytokine receptors,mediating the activation of STAT proteins

         Enzyme Numbers (IUBMB): EC 2.7.10.21 2 EC 2.7.102

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004713protein tyrosine kinase activity TAS--
    GO:0004715non-membrane spanning protein tyrosine kinase activity IEA--
    GO:0005131growth hormone receptor binding ISS10502458
    GO:0005515protein binding IPI16273093
         
    JAK1 for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for JAK1:
     Decreased p24 protein expressi  Decreased viability in HMC1.1   Increased apoptosis  Increased cell death HMECs cel 
     Synthetic lethal with Ras 

         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Jak1):
     behavior/neurological  cellular  growth/size  hematopoietic system  immune system 
     mortality/aging 

    JAK1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Jak1tm1Rds for JAK1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for JAK1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for JAK1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for JAK1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for JAK1 

    miRNA
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    miRTarBase miRNAs that target JAK1:
    hsa-mir-17 (MIRT000482)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat JAK1
    8/41 QIAGEN miScript miRNA Assays for microRNAs that regulate JAK1 (see all 41):
    hsa-miR-142-5p hsa-miR-520f hsa-miR-106a hsa-miR-30d hsa-miR-519a hsa-miR-30a hsa-miR-1276 hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidJAK1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Sirion Biotech Validated adenovirus to knockdown JAK1 in human, mouse 
                         Customized adenovirus for overexpression of JAK1

    Clone
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    GenScript: all cDNA clones in your preferred vector: JAK1 (NM_002227)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat JAK1
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                         Customized lentivirus expression plasmids for stable overexpression of JAK1 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for JAK1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for JAK1 About   (see all 72)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Common Cytokine Receptor Gamma-Chain Family Signaling Pathways
    IL-9 Signaling Pathways0.90
    IL-4 Signaling Pathways0.84
    IL-7 Signaling Pathways0.90
    IL-9 Signaling Pathway0.42
    IL-21 Signaling Pathways0.90
    Immune response IL-9 signaling pathway0.42
    Common Cytokine Receptor Gamma-Chain Family Signaling Pathways0.90
    IL-7 Signaling Pathway0.40
    2Immune response IFN alpha/beta signaling pathway
    Immune response IFN alpha/beta signaling pathway0.71
    Interferon alpha/beta signaling0.45
    Regulation of IFNA signaling0.71
    3IL-2 Signaling pathway
    IL-2 Signaling pathway0.49
    IL2-mediated signaling events0.49
    4Immune response IFN gamma signaling pathway
    Immune response IFN gamma signaling pathway0.43
    IFN-gamma pathway0.43
    5Development EGFR signaling pathway
    Development EGFR signaling pathway0.87
    EGF Pathway0.41

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/13 EMD Millipore Pathways for JAK1 (see all 13)
        Cell adhesion PLAU signaling
    Immune response IL-9 signaling pathway
    Immune response IL-4 signaling pathway
    Immune response Oncostatin M signaling via JAK-Stat in human cells
    Immune response IL-2 activation and signaling pathway

    5/10 R&D Systems Pathways for JAK1 (see all 10)
        IL-21 Signaling Pathways
    IL-2 Signaling Pathways
    IL-4 Signaling Pathways
    IL-7 Signaling Pathways
    Common Cytokine Receptor Gamma-Chain Family Signaling Pathways

    5/22 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for JAK1 (see all 22)
        IL-10 Pathway
    IL-4 Pathway
    Molecular Mechanisms of Cancer
    Interferon Pathway
    PDGF Pathway

    1 Cell Signaling Technology (CST) Pathway for JAK1
        Jak/Stat Pathway

    5/16 GeneGo (Thomson Reuters) Pathways for JAK1 (see all 16)
        Immune response Bacterial infections in normal airways
    Development CNTF receptor signaling
    Development EGFR signaling pathway
    Immune response Oncostatin M signaling via JAK-Stat in human cells
    Immune response IL-9 signaling pathway

    5/29 BioSystems Pathways for JAK1 (see all 29)
        TGF Beta Signaling Pathway
    EGFR1 Signaling Pathway
    Type II interferon signaling (IFNG)
    Integrated Breast Cancer Pathway
    Oncostatin M Signaling Pathway

    5/15        Reactome Pathways for JAK1 (see all 15)
        Regulation of IFNA signaling
    Antiviral mechanism by IFN-stimulated genes
    Interferon alpha/beta signaling
    Interferon gamma signaling
    Cytokine Signaling in Immune system

    1 PharmGKB Pathway for JAK1
        EGFR Inhibitor Pathway, Pharmacodynamics

    5/16         Kegg Pathways  (Kegg details for JAK1) (see all 16):
        PI3K-Akt signaling pathway
    Osteoclast differentiation
    Jak-STAT signaling pathway
    Leishmaniasis
    Toxoplasmosis


    JAK1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for JAK1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/216 Interacting proteins for JAK1 (P234582, 3 ENSP000003432044) via UniProtKB, MINT, STRING, and/or I2D (see all 216)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IFNAR2P485512, 3, ENSP000003439574MINT-2729887 MINT-2729859 MINT-2729832 I2D: score=6 STRING: ENSP00000343957
    STAM2O758862, 3, ENSP000002639044MINT-49798 MINT-15831 I2D: score=4 STRING: ENSP00000263904
    ERBB2P046262, 3, ENSP000002695714MINT-74561 MINT-74560 I2D: score=2 STRING: ENSP00000269571
    BRCA1P383982, 3, ENSP000003502834MINT-16582 I2D: score=4 STRING: ENSP00000350283
    IL6RP088872, 3, ENSP000003574704MINT-15143 I2D: score=1 STRING: ENSP00000357470
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006468protein phosphorylation TAS1848670
    GO:0007167enzyme linked receptor protein signaling pathway IEA--
    GO:0007243intracellular protein kinase cascade IEA--
    GO:0018108peptidyl-tyrosine phosphorylation IEA--
    GO:0019221cytokine-mediated signaling pathway TAS--

    JAK1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    JAK1 for compounds           About GeneDecksing

    EMD Millipore small molecules for JAK1:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for JAK1

    2 HMDB Compounds for JAK1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--

    3 DrugBank Compounds for JAK1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    RuxolitinibINCB 18424 (see all 3)941678-49-5targetinhibitor23514013 23061804
    2-(1,1-DIMETHYLETHYL)9-FLUORO-3,6-DIHYDRO-7H-BENZ[H]-IMIDAZ[4,5-F]ISOQUINOLIN-7-ONE-- --target--10592235
    3-{(3R,4R)-4-methyl-3-[methyl(7H-pyrrolo[2,3-d]pyrimidin-4-yl)amino]piperidin-1-yl}-3-oxopropanenitrile-- --target--10592235

    10/30 Novoseek inferred chemical compound relationships for JAK1 gene (see all 30)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 84.9 337 8671609 (4), 8041779 (4), 8770944 (4), 7591091 (4) (see all 99)
    gp 130 81.8 38 11557047 (4), 12878601 (2), 11742534 (2), 18619543 (2) (see all 25)
    ifn-alpha 59.9 8 19014879 (3), 8617715 (1), 12725866 (1), 16623280 (1) (see all 6)
    piceatannol 58.7 3 14749471 (1), 18664717 (1), 17264307 (1)
    vanadate 50.5 4 10979952 (1), 11278370 (1), 7514165 (1)
    phosphatidylinositol 46.3 8 9545305 (2), 9774657 (1), 12738762 (1), 18948751 (1)
    15-deoxy-delta-12,14-prostaglandin j2 32.8 3 12584205 (1), 18596134 (1)
    sb 203580 30.8 1 17264307 (1)
    serine 29.2 10 10488146 (3), 10067896 (1), 19945455 (1), 19014879 (1) (see all 7)
    pd 98,059 10.4 1 17264307 (1)

    Search CenterWatch for drugs/clinical trials and news about JAK1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for JAK1 gene: 
    NM_002227.2  

    Unigene Cluster for JAK1:

    Janus kinase 1
    Hs.207538  [show with all ESTs]
    Unigene Representative Sequence: BX538267
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000342505(uc009wal.1 uc001dbu.1 uc009wam.1) ENST00000481702
    ENST00000465376 ENST00000471473 ENST00000494904 ENST00000467764
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/41 QIAGEN miScript miRNA Assays for microRNAs that regulate JAK1 (see all 41):
    hsa-miR-142-5p hsa-miR-520f hsa-miR-106a hsa-miR-30d hsa-miR-519a hsa-miR-30a hsa-miR-1276 hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidJAK1 3' UTR sequence
    Inhib. RNA
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat JAK1
    Clone
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    GenScript: all cDNA clones in your preferred vector: JAK1 (NM_002227)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for JAK1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat JAK1
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat JAK1

    Additional mRNA sequence: 

    AB209057.1 AB219242.1 AK128734.1 AK314257.1 BC009079.1 BC023604.2 BC062431.1 BC111401.1 
    BC132729.1 BX538267.1 BX647675.1 M64174.1 

    20 DOTS entries:

    DT.75157530  DT.95291845  DT.91775426  DT.121455362  DT.70105449  DT.91775503  DT.91918247  DT.40209011 
    DT.121455286  DT.40188738  DT.91855259  DT.95194328  DT.95340026  DT.121455277  DT.40219782  DT.91775430 
    DT.91775479  DT.91775490  DT.91775504  DT.91775363 

    24/297 AceView cDNA sequences (see all 297):

    AL555086 BU147514 AI280194 BP349627 AA362097 BU509824 BM708001 AA985527 
    BU630039 BG122973 AI379957 AI494026 BM456164 AI767465 BF515330 CK429312 
    BQ425403 AA768569 BU429636 BQ946550 AA045061 BG698019 AI350143 BU951882 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for JAK1 (see all 8)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19a · 19b · 19c ^
    SP1:                          -                                                     -                 -           -                                             
    SP2:                                                                                                                                                            
    SP3:                                                                                -                 -           -                                             
    SP4:                                                                                                              -                                             
    SP5:                                                                                -                                                                           

    ExUns: 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b
    SP1:                                                            
    SP2:                                                            
    SP3:                                                            
    SP4:                                                            
    SP5:                                                            


    ECgene alternative splicing isoforms for JAK1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    JAK1 expression in normal human tissues (normalized intensities)      JAK1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTTTAAGAA
    JAK1 Expression
    About this image


    JAK1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Endothelium (Cardiovascular System)
             Endothelial-like cells ( Derivation and purification of endothelial precursor cells...
     
     Blood (Hematopoietic System)
             pre Conventional Dendritic Cells Peripheral Blood
     
     Lymph (Hematopoietic System)
             LYMPH NODE   
     
     Brain (Nervous System)
             Medulla Oblongata

    See JAK1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for JAK1

    SOURCE GeneReport for Unigene cluster: Hs.207538

    UniProtKB/Swiss-Prot: JAK1_HUMAN, P23458
    Tissue specificity: Expressed at higher levels in primary colon tumors than in normal colon tissue. The expression
    level in metastatic colon tumors is comparable to the expression level in normal colon tissue

        SABiosciences Expression via Pathway-Focused PCR Arrays including JAK1 (see all 8): 
              Multiple Sclerosis in human mouse rat
              JAK / STAT Signaling Pathway in human mouse rat
              Th17 Response in human mouse rat
              Th1/Th2 Response in human mouse rat
              EGF / PDGF Signaling Pathway in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for JAK1 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Jak11 , 5 Janus kinase 11, 5 89.5(n)1
    95.05(a)1
      4 (46.19 cM)5
    164511  NM_146145.21  NP_666257.21 
     1011523675 
    chicken
    (Gallus gallus)
    Aves JAK11 Janus kinase 1 75.55(n)
    81.87(a)
      395681  NM_204870.1  NP_990201.1 
    lizard
    (Anolis carolinensis)
    Reptilia JAK16
    Janus kinase 1
    78(a)
    1 ↔ 1
    4(98445272-98508127)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.190812 Transcribed sequence with weak similarity to protein more 77.33(n)    BX737705.1 
    zebrafish
    (Danio rerio)
    Actinopterygii jak12 Janus kinase 1 76.34(n)   30280  BC047165.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta PR26
    Fak-like tyrosine kinase
    11(a)
    1 → many
    2R(9030339-9040182)


    ENSEMBL Gene Tree for JAK1 (if available)
    TreeFam Gene Tree for JAK1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for JAK1 gene
    SYK2  TNK12  JAK32  JAK22  TNK22  TYK22  ERBB42  ERBB32  
    PTK22  ERBB22  ZAP702  EGFR2  PTK2B2  
    13 SIMAP similar genes for JAK1 using alignment to 5 protein entries:     JAK1_HUMAN (see all proteins):
    SRC    JAK2    TYK2    DKFZp564L2416    EPHA2    FES
    ABL1    DKFZp434L0319    JAK3    FGFR2    FGR    DKFZp686M05208
    ERBB4

    JAK1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2775 SNPs in JAK1 are shown (see all 2775)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs40141871,2
    C--63407542(+) AGTCAGTCA/-  
            
    NNNAA
    1 -- ds50011Minor allele frequency- -:0.50NA 2
    rs561146341,2
    C--63409682(+) CACAC-/AAAAAA 1 -- int10--------
    rs3735387731,2
    C--63413586(+) AAATA-/AAAAAA 1 -- int10--------
    rs3102101,2
    F--63453164(-) ATATAG/TATATA 1 -- int13Minor allele frequency- T:0.10NA EA 252
    rs30504641,2
    C--63483398(+) CACAC-/A/AC  
            
    CCCTT
    1 -- int11NA 2
    rs613302261,2
    C--63484556(+) AAGAGC/-GTTAA 1 -- int11Minor allele frequency- -:0.00CSA 2
    rs361135861,2
    C--63508757(+) GTAAA-/A/GGGACC 1 -- int11NA 2
    rs1123956171,2
    C--65299551(+) TTGAGAATT/-  
            
    AATTA
    1 -- ut311Minor allele frequency- -:0.50CSA 2
    rs358090061,2
    C--65299552(+) TGAGA-/AATT/ 
    ATT
    /ATTA
    ATTAA
    3 -- cds1 ut311NA 2
    rs352093941,2
    C--65299553(+) ATTAATTAA/-  
            
    CATGC
    1 -- ut311Minor allele frequency- -:0.00NA 2

    HapMap Linkage Disequilibrium report for JAK1 (65298906 - 65432187 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for JAK1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2671749CNV Deletion23128226
    esv2421783CNV Deletion20811451
    nsv830059CNV Loss17160897
    esv275588CNV Loss21479260
    nsv823098CNV Loss20364138
    nsv525227CNV Loss19592680

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 147795    OMIM disorders: --

    20/66 diseases for JAK1 (see all 66):    About MalaCards
    polycythemia vera    polycythemia    ovarian endometriosis    primary effusion lymphoma
    severe combined immunodeficiency    thrombocytosis    cblc    hepatitis c
    myelofibrosis    fibrosarcoma    dengue hemorrhagic fever    leiomyosarcoma
    keloids    burkitt's lymphoma    toxoplasmosis    hemorrhagic fever
    measles    lymphoblastic leukemia    endometriosis    cutaneous t cell lymphoma

    4 diseases from the University of Copenhagen DISEASES database for JAK1:
    Myelofibrosis     Polycythemia vera     Leukemia     Thrombocytosis

    JAK1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    10/26 Novoseek inferred disease relationships for JAK1 gene (see all 26)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    polycythemia vera 51.1 1 16239216 (1)
    fibrosarcoma 49.1 12 9305869 (2), 9013940 (2), 12589807 (2), 7537214 (1) (see all 8)
    leukemia 46.4 5 18559588 (1), 16193102 (1), 19620279 (1)
    severe combined immunodeficiency, x-linked 44 1 7973658 (1)
    myeloma 19.5 3 11986233 (1), 20072651 (1), 17158029 (1)
    somatic mutations 17.5 4 18160671 (2), 18559588 (1), 18362173 (1)
    lymphoblastic leukemia acute 16.3 3 18362173 (1), 19139102 (1), 20167706 (1)
    tumors 16.2 9 9703883 (2), 20368117 (2), 20442315 (1), 18320073 (1) (see all 6)
    autoimmune diseases 5.61 1 16239216 (1)
    prostate cancer 5.11 7 14749471 (2), 16102578 (2), 17234809 (1), 17826679 (1) (see all 5)

    Genetic Association Database (GAD): JAK1
    Human Genome Epidemiology (HuGE) Navigator: JAK1 (29 documents)

    Export disorders for JAK1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for JAK1 gene, integrated from 9 sources (see all 636):
    (articles sorted by number of sources associating them with JAK1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Two novel protein-tyrosine kinases, each with a second phosphotransferase-related catalytic domain, define a new class of protein kinase. (PubMed id 1848670)1, 2, 3, 9 Wilks A.F....Ziemiecki A. (1991)
    2. Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia. (PubMed id 18362173)1, 4, 9 Flex E....Tartaglia M. (2008)
    3. A polymorphism associated with STAT3 expression and r esponse of chronic myeloid leukemia to interferon alpha. (PubMed id 20065083)1, 4, 9 Kreil S....Cross N.C. (2010)
    4. Jamip1 (marlin-1) defines a family of proteins interacting with Janus kinases and microtubules. (PubMed id 15277531)1, 2, 9 Steindler C....Pellegrini S. (2004)
    5. Characterization of the signaling capacities of the novel gp130-like cytokine receptor. (PubMed id 15194700)1, 2, 9 Dreuw A....Hermanns H.M. (2004)
    6. Hepatitis B viraemia: its heritability and associatio n with common genetic variation in the interferon {gamma} signalling pathway. (PubMed id 20980339)1, 4 Huang H.H....Yu M.W. (2011)
    7. Dengue hemorrhagic fever is associated with polymorph isms in JAK1. (PubMed id 20588308)1, 4 Silva L.K....Teixeira M.G. (2010)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    9. JAK1 mutations are not frequent events in adult T-ALL : a GRAALL study. (PubMed id 19764985)1, 4 Asnafi V....Macintyre E. (2010)
    10. Interleukin-9 polymorphism in infants with respirator y syncytial virus infection: an opposite effect in boys and girls. (PubMed id 20503287)1, 4 Schuurhof A....Janssen R. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3716 HGNC: 6190 AceView: JAK1 Ensembl:ENSG00000162434 euGenes: HUgn3716
    ECgene: JAK1 Kegg: 3716 H-InvDB: JAK1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for JAK1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for JAK1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for JAK1 gene:
    Search GeneIP for patents involving JAK1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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