Gene

JAK1

Species
Homo sapiens
Symbol
JAK1
Name
Janus kinase 1
Synonyms
  • AIIDE
  • JAK-1
Biotype
protein coding gene
Automated Description
Enables non-membrane spanning protein tyrosine kinase activity; protein phosphatase binding activity; and ubiquitin protein ligase binding activity. Involved in several processes, including cell surface receptor signaling pathway via JAK-STAT; cytokine-mediated signaling pathway; and positive regulation of sprouting angiogenesis. Acts upstream of or within response to antibiotic. Located in cytoplasm and nucleus. Is active in cytoplasmic side of plasma membrane. Is extrinsic component of cytoplasmic side of plasma membrane. Implicated in T-cell acute lymphoblastic leukemia; carcinoma (multiple); gastrointestinal system cancer (multiple); and reproductive organ cancer (multiple). Biomarker of pancreatic ductal adenocarcinoma.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR45807
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

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    Disease Associations

    Cases where the expected disease association was NOT found
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    Alleles and Variants

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      Transgenic Alleles

      Species
      (carrying the transgene)
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        Models

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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          JAK1 molecule type
          Interactor gene
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            Genetic Interactions

            JAK1 role
            JAK1 genetic perturbation
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