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JAK1

Chr 1p31.3

Janus kinase 1

Aliases:
JAK1A, JTK3
MANE:
ENST00000342505.5
OMIM: 147795 ↗NCBI: 3716 ↗Ensembl ↗

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

  • Primary immunodeficiency or monogenic inflammatory bowel disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Paediatric or syndromic cardiomyopathy

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • rheumatoid arthritis

    0.71

  • autoinflammation, immune dysregulation, and eosinophilia

    0.69

  • atopic eczema

    0.60

  • Eczematoid dermatitis

    0.59

  • myelofibrosis

    0.59

  • ulcerative colitis

    0.58

  • psoriatic arthritis

    0.57

  • graft versus host disease

    0.57

  • hypothyroidism

    0.56

  • Crohn disease

    0.56

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Tyrosine-protein kinase JAK1

Non-membrane spanning protein tyrosine kinase that phosphorylates signal-transducing subunits of cytokine receptor complexes like IL2RB, IL10RA, IFNAR2, IL6ST, LIFR, OSMR and IL31RA (PubMed:11909529, PubMed:12133952, PubMed:15194700, PubMed:16239216, PubMed:28111307, PubMed:32750333, PubMed:7615558, PubMed:8232552, PubMed:9188471). Functionnally, is involved in the IFN-alpha/beta/gamma signal pathway (PubMed:16239216, PubMed:28111307, PubMed:32750333, PubMed:7615558, PubMed:8232552). Mechanistically, in response to interferon-binding to IFNAR1-IFNAR2 heterodimer, phosphorylates and activates its binding partner IFNAR2, creating docking sites for STAT proteins (PubMed:7759950). Directly phosphorylates STAT proteins but also activates STAT signaling through the transactivation of other JAK kinases associated with signaling receptors (PubMed:16239216, PubMed:32750333, PubMed:8232552). Involved in the MT-RNR2/humanin-mediated signaling pathway leading to STAT3 phosphorylation (PubMed:27384491). Binding of CNTF or the CLCF1/CLF heterodimer to CNTFR leads to IL6ST/gp130-LIFR dimerization followed by activation of JAK1 and JAK2 which in turns phosphorylate IL6ST/gp130 and LIFR (PubMed:11294841). The tyrosine phosphorylated signaling receptors serve in turn as docking proteins for STAT3 (PubMed:11294841). Involved in the oncostatin-M-mediated signaling pathway through both type I OSM receptor complex (heterodimers composed of LIFR and IL6ST) and type II OSM receptor complex (heterodimers composed of OSMR and IL6ST) (PubMed:9188471). Involved in the oncostatin-M-mediated signaling pathway through both type I OSM receptor complex (heterodimers composed of LIFR and IL6ST) and type II OSM receptor complex (heterodimers composed of OSMR and IL6ST) (PubMed:9188471). Involved in the Interleukin-31-mediated signaling pathway through the IL31 receptor complex (heterodimers composed of OSMR and IL31RA) (PubMed:15194700)

Diseases associated with JAK1

Curated MONDO disease pages that list JAK1 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.