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    JAK1 Janus kinase 1 [ Homo sapiens (human) ]

    Gene ID: 3716, updated on 27-Nov-2024

    Summary

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    Official Symbol
    JAK1provided by HGNC
    Official Full Name
    Janus kinase 1provided by HGNC
    Primary source
    HGNC:HGNC:6190
    See related
    Ensembl:ENSG00000162434 MIM:147795; AllianceGenome:HGNC:6190
    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
    mouse all
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    Genomic context

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    See JAK1 in Genome Data Viewer
    Location:
    1p31.3
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (64833229..65067746, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (64711228..64945755, complement)
    RS_2024_09 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 cache domain containing 1 Neighboring gene uncharacterized LOC124904195 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:65037847-65038552 Neighboring gene microRNA 4794 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:65129441-65129616 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 956 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 957 Neighboring gene ribonucleoprotein, PTB binding 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1129 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:65312286-65313485 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:65326691-65327236 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1130 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1131 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1133 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1134 Neighboring gene Sharpr-MPRA regulatory region 6411 Neighboring gene NDUFA4, mitochondrial complex associated pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 958 Neighboring gene Sharpr-MPRA regulatory region 2453 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1136 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1135 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1137 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1139 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 959 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 960 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1140 Neighboring gene long intergenic non-protein coding RNA 1359 Neighboring gene solute carrier family 2 member 3 pseudogene 2 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:65491678-65492495 Neighboring gene RNA, U6 small nuclear 1176, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 961 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 962 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 963 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Nuclear Import of JAK1 Is Mediated by a Classical NLS and Is Required for Survival of Diffuse Large B-cell Lymphoma. Zhu F, et al. Mol Cancer Res, 2017 Mar. PMID 28031410, Free PMC Article
    2. JAK1, but not JAK2 and STAT3, confers susceptibility to Vogt-Koyanagi-Harada (VKH) syndrome in a Han Chinese population. Hu K, et al. Invest Ophthalmol Vis Sci, 2013 May 9. PMID 23611997
    3. Genetic variants in the JAK1 gene confer higher risk of Behcet's disease with ocular involvement in Han Chinese. Hou S, et al. Hum Genet, 2013 Sep. PMID 23674219
    4. Rare occurrence of the JAK1 mutation in acute promyelocytic leukemia patients. Yin J, et al. Acta Haematol, 2013. PMID 23860541
    5. Activation of the Janus kinase/signal transducer and activator of transcription pathway in multiple myeloma is not related to point mutations in kinase and pseudokinase domains of JAK1. Corbi FC, et al. Leuk Lymphoma, 2014 May. PMID 23885837

    See all (500) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The Janus kinase 1 is critical for pancreatic cancer initiation and progression.
      Title: The Janus kinase 1 is critical for pancreatic cancer initiation and progression.
    2. Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis.
      Title: Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis.
    3. Single-cell deconvolution algorithms analysis unveils autocrine IL11-mediated resistance to docetaxel in prostate cancer via activation of the JAK1/STAT4 pathway.
      Title: Single-cell deconvolution algorithms analysis unveils autocrine IL11-mediated resistance to docetaxel in prostate cancer via activation of the JAK1/STAT4 pathway.
    4. CD146[+]CAFs promote progression of endometrial cancer by inducing angiogenesis and vasculogenic mimicry via IL-10/JAK1/STAT3 pathway.
      Title: CD146(+)CAFs promote progression of endometrial cancer by inducing angiogenesis and vasculogenic mimicry via IL-10/JAK1/STAT3 pathway.
    5. Inhibiting JAK1, not NF-kappaB, reverses the effect of pro-inflammatory cytokines on engineered human ligament function.
      Title: Inhibiting JAK1, not NF-κB, reverses the effect of pro-inflammatory cytokines on engineered human ligament function.
    6. JAK1 promotes HDV replication and is a potential target for antiviral therapy.
      Title: JAK1 promotes HDV replication and is a potential target for antiviral therapy.
    7. WNT7A promotes tumorigenesis of head and neck squamous cell carcinoma via activating FZD7/JAK1/STAT3 signaling.
      Title: WNT7A promotes tumorigenesis of head and neck squamous cell carcinoma via activating FZD7/JAK1/STAT3 signaling.
    8. METTL3 promotes colorectal cancer progression through activating JAK1/STAT3 signaling pathway.
      Title: METTL3 promotes colorectal cancer progression through activating JAK1/STAT3 signaling pathway.
    9. RARgamma promotes the invasion and metastasis of thyroid carcinoma by activating the JAK1-STAT3-CD24/MMPs axis.
      Title: RARγ promotes the invasion and metastasis of thyroid carcinoma by activating the JAK1-STAT3-CD24/MMPs axis.
    10. Case control study: G-allele of rs4244165 in JAK1 gene correlated with high-level brief psychiatric rating scale in bipolar patients.
      Title: Case control study: G-allele of rs4244165 in JAK1 gene correlated with high-level brief psychiatric rating scale in bipolar patients.
    Submit: New GeneRIF Correction See all GeneRIFs (225)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Autoinflammation, immune dysregulation, and eosinophilia
    MedGen: C5436572 OMIM: 618999 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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
    		  
    enables growth hormone receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables non-membrane spanning protein tyrosine kinase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    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 IC
    Inferred by Curator
    more info
    		 PubMed 
    enables protein tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein tyrosine kinase activity TAS
    Traceable Author Statement
    more info
    		  
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in T-helper 17 cell lineage commitment TAS
    Traceable Author Statement
    more info
    		 PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cell surface receptor signaling pathway via JAK-STAT IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cell surface receptor signaling pathway via JAK-STAT NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in cell surface receptor signaling pathway via JAK-STAT TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cellular response to virus NAS
    Non-traceable Author Statement
    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
    		  
    involved_in cytokine-mediated signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in interleukin-11-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in interleukin-15-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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-4-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in interleukin-4-mediated signaling pathway NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in interleukin-6-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in interleukin-6-mediated signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    involved_in interleukin-7-mediated signaling pathway IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in interleukin-9-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of homotypic cell-cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of protein localization to nucleus IDA
    Inferred from Direct Assay
    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 
    acts_upstream_of_or_within response to antibiotic IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in type I interferon-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in type I interferon-mediated signaling pathway NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in type I interferon-mediated signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    involved_in type II interferon-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in type II interferon-mediated signaling pathway NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in type II interferon-mediated signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    involved_in type III interferon-mediated signaling pathway NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IC
    Inferred by Curator
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasmic side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 endosome TAS
    Traceable Author Statement
    more info
    		  
    is_active_in extrinsic component of cytoplasmic side of plasma membrane IC
    Inferred by Curator
    more info
    		 PubMed 
    is_active_in extrinsic component of cytoplasmic side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in focal adhesion HDA PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IC
    Inferred by Curator
    more info
    		 PubMed 
    is_active_in plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    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
    XP_047275630.1
    XP_047275631.1
    XP_047275632.1
    XP_047275633.1
    XP_054192401.1
    XP_054192402.1
    XP_054192403.1

    NCBI Reference Sequences (RefSeq)

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    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_001320923.2 → NP_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, Q59GQ2, Q9UD26
      UniProtKB/TrEMBL
      A0A0A0N0M2, A0A5F9ZI39
      Related
      ENSP00000514243.1, ENST00000699262.1
      Conserved Domains (7) summary
      cd05079
      Location:870 → 1153
      PTKc_Jak1_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 1
      smart00219
      Location:875 → 1149
      TyrKc; Tyrosine kinase, catalytic domain
      smart00295
      Location:37 → 286
      B41; Band 4.1 homologues
      cd05077
      Location:583 → 846
      PTK_Jak1_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 1
      cd13332
      Location:282 → 426
      FERM_C_JAK1; FERM domain C-lobe of Janus kinase 1
      pfam07714
      Location:583 → 845
      Pkinase_Tyr; Protein tyrosine kinase
      cl15255
      Location:426 → 527
      SH2; Src homology 2 (SH2) domain

    2. NM_001321852.2 → NP_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, Q59GQ2, Q9UD26
      UniProtKB/TrEMBL
      A0A0A0N0M2, A0A5F9ZI39
      Related
      ENSP00000500745.2, ENST00000672751.2
      Conserved Domains (7) summary
      cd05079
      Location:870 → 1153
      PTKc_Jak1_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 1
      smart00219
      Location:875 → 1149
      TyrKc; Tyrosine kinase, catalytic domain
      smart00295
      Location:37 → 286
      B41; Band 4.1 homologues
      cd05077
      Location:583 → 846
      PTK_Jak1_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 1
      cd13332
      Location:282 → 426
      FERM_C_JAK1; FERM domain C-lobe of Janus kinase 1
      pfam07714
      Location:583 → 845
      Pkinase_Tyr; Protein tyrosine kinase
      cl15255
      Location:426 → 527
      SH2; Src homology 2 (SH2) domain

    3. NM_001321853.2 → NP_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, Q59GQ2, Q9UD26
      UniProtKB/TrEMBL
      A0A0A0N0M2, A0A5F9ZI39
      Related
      ENSP00000499900.1, ENST00000672434.2
      Conserved Domains (7) summary
      cd05079
      Location:870 → 1153
      PTKc_Jak1_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 1
      smart00219
      Location:875 → 1149
      TyrKc; Tyrosine kinase, catalytic domain
      smart00295
      Location:37 → 286
      B41; Band 4.1 homologues
      cd05077
      Location:583 → 846
      PTK_Jak1_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 1
      cd13332
      Location:282 → 426
      FERM_C_JAK1; FERM domain C-lobe of Janus kinase 1
      pfam07714
      Location:583 → 845
      Pkinase_Tyr; Protein tyrosine kinase
      cl15255
      Location:426 → 527
      SH2; Src homology 2 (SH2) domain

    4. NM_001321854.2 → NP_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, Q59GQ2, Q9UD26
      UniProtKB/TrEMBL
      A0A0A0N0M2, A0A5F9ZI39
      Related
      ENSP00000514291.1, ENST00000699312.1
      Conserved Domains (7) summary
      cd05079
      Location:870 → 1153
      PTKc_Jak1_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 1
      smart00219
      Location:875 → 1149
      TyrKc; Tyrosine kinase, catalytic domain
      smart00295
      Location:37 → 286
      B41; Band 4.1 homologues
      cd05077
      Location:583 → 846
      PTK_Jak1_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 1
      cd13332
      Location:282 → 426
      FERM_C_JAK1; FERM domain C-lobe of Janus kinase 1
      pfam07714
      Location:583 → 845
      Pkinase_Tyr; Protein tyrosine kinase
      cl15255
      Location:426 → 527
      SH2; Src homology 2 (SH2) domain

    5. NM_001321855.2 → NP_001308784.1  tyrosine-protein kinase JAK1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC093427, AL606517
      Consensus CDS
      CCDS41346.1
      UniProtKB/Swiss-Prot
      P23458, Q59GQ2, Q9UD26
      UniProtKB/TrEMBL
      A0A0A0N0M2, A0A5F9ZI39
      Related
      ENSP00000499884.1, ENST00000672247.2
      Conserved Domains (7) summary
      cd05079
      Location:870 → 1153
      PTKc_Jak1_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 1
      smart00219
      Location:875 → 1149
      TyrKc; Tyrosine kinase, catalytic domain
      smart00295
      Location:37 → 286
      B41; Band 4.1 homologues
      cd05077
      Location:583 → 846
      PTK_Jak1_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 1
      cd13332
      Location:282 → 426
      FERM_C_JAK1; FERM domain C-lobe of Janus kinase 1
      pfam07714
      Location:583 → 845
      Pkinase_Tyr; Protein tyrosine kinase
      cl15255
      Location:426 → 527
      SH2; Src homology 2 (SH2) domain

    6. NM_001321856.2 → NP_001308785.1  tyrosine-protein kinase JAK1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC093427, AL606517
      Consensus CDS
      CCDS41346.1
      UniProtKB/Swiss-Prot
      P23458, Q59GQ2, Q9UD26
      UniProtKB/TrEMBL
      A0A0A0N0M2, A0A5F9ZI39
      Related
      ENSP00000500296.1, ENST00000672179.2
      Conserved Domains (7) summary
      cd05079
      Location:870 → 1153
      PTKc_Jak1_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 1
      smart00219
      Location:875 → 1149
      TyrKc; Tyrosine kinase, catalytic domain
      smart00295
      Location:37 → 286
      B41; Band 4.1 homologues
      cd05077
      Location:583 → 846
      PTK_Jak1_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 1
      cd13332
      Location:282 → 426
      FERM_C_JAK1; FERM domain C-lobe of Janus kinase 1
      pfam07714
      Location:583 → 845
      Pkinase_Tyr; Protein tyrosine kinase
      cl15255
      Location:426 → 527
      SH2; Src homology 2 (SH2) domain

    7. NM_001321857.2 → NP_001308786.1  tyrosine-protein kinase JAK1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC093427, AL606517
      Consensus CDS
      CCDS90968.1
      UniProtKB/TrEMBL
      A0A0A0N0M2, A0A5F9ZI39, A0A8V8TPQ9
      Related
      ENSP00000514241.1, ENST00000699260.1
      Conserved Domains (7) summary
      cd05079
      Location:869 → 1152
      PTKc_Jak1_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 1
      smart00219
      Location:874 → 1148
      TyrKc; Tyrosine kinase, catalytic domain
      smart00295
      Location:37 → 286
      B41; Band 4.1 homologues
      cd05077
      Location:582 → 845
      PTK_Jak1_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 1
      cd13332
      Location:282 → 426
      FERM_C_JAK1; FERM domain C-lobe of Janus kinase 1
      pfam07714
      Location:582 → 844
      Pkinase_Tyr; Protein tyrosine kinase
      cl15255
      Location:426 → 526
      SH2; Src homology 2 (SH2) domain

    8. NM_002227.4 → NP_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, Q59GQ2, Q9UD26
      UniProtKB/TrEMBL
      A0A0A0N0M2, A0A5F9ZI39
      Related
      ENSP00000343204.4, ENST00000342505.5
      Conserved Domains (7) summary
      cd05079
      Location:870 → 1153
      PTKc_Jak1_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 1
      smart00219
      Location:875 → 1149
      TyrKc; Tyrosine kinase, catalytic domain
      smart00295
      Location:37 → 286
      B41; Band 4.1 homologues
      cd05077
      Location:583 → 846
      PTK_Jak1_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 1
      cd13332
      Location:282 → 426
      FERM_C_JAK1; FERM domain C-lobe of Janus kinase 1
      pfam07714
      Location:583 → 845
      Pkinase_Tyr; Protein tyrosine kinase
      cl15255
      Location:426 → 527
      SH2; Src homology 2 (SH2) domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_047419676.1 → XP_047275632.1  tyrosine-protein kinase JAK1 isoform X2

      UniProtKB/TrEMBL
      A0A8V8TPQ9

    2. XM_047419677.1 → XP_047275633.1  tyrosine-protein kinase JAK1 isoform X2

      UniProtKB/TrEMBL
      A0A8V8TPQ9

    3. XM_047419675.1 → XP_047275631.1  tyrosine-protein kinase JAK1 isoform X1

      UniProtKB/Swiss-Prot
      P23458, Q59GQ2, Q9UD26

    4. XM_047419674.1 → XP_047275630.1  tyrosine-protein kinase JAK1 isoform X1

      UniProtKB/Swiss-Prot
      P23458, Q59GQ2, Q9UD26

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      64711228..64945755 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336427.1 → XP_054192402.1  tyrosine-protein kinase JAK1 isoform X2

      UniProtKB/TrEMBL
      A0A8V8TPQ9

    2. XM_054336428.1 → XP_054192403.1  tyrosine-protein kinase JAK1 isoform X2

      UniProtKB/TrEMBL
      A0A8V8TPQ9

    3. XM_054336426.1 → XP_054192401.1  tyrosine-protein kinase JAK1 isoform X1

      UniProtKB/Swiss-Prot
      P23458, Q59GQ2, Q9UD26
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P23458.2 GenPept UniProtKB/Swiss-Prot:P23458

    Gene LinkOut

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