JAK1
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 and interferon-gamma signal transduction. Alternative splicing results in multiple transcript variants.
Function
Tyrosine kinase of the non-receptor type, involved in the IFN-alpha/beta/gamma signal pathway (PubMed:7615558, PubMed:28111307, PubMed:32750333, PubMed:16239216).
Kinase partner for the interleukin (IL)-2 receptor (PubMed:11909529) as well as interleukin (IL)-10 receptor (PubMed:12133952).
Directly phosphorylates STAT but also activates STAT signaling through the transactivation of other JAK kinases associated with signaling receptors (PubMed:16239216, PubMed:32750333).
Biological Process
Cytokine-mediated signaling pathwayManual Assertion Based On ExperimentIBA:GO_Central
Interferon-gamma-mediated signaling pathwayTAS:Reactome
Interleukin-2-mediated signaling pathwayManual Assertion Based On ExperimentIDA:UniProtKB
Interleukin-6-mediated signaling pathwayTAS:Reactome
Intracellular signal transductionManual Assertion Based On ExperimentTAS:ProtInc
Positive regulation of homotypic cell-cell adhesionManual Assertion Based On ExperimentIMP:ARUK-UCL
Positive regulation of sprouting angiogenesisManual Assertion Based On ExperimentIGI:BHF-UCL
Protein localization to cell-cell junctionManual Assertion Based On ExperimentIMP:ARUK-UCL
Protein phosphorylationManual Assertion Based On ExperimentIMP:UniProtKB
Receptor signaling pathway via JAK-STATManual Assertion Based On ExperimentIMP:UniProtKB
Response to antibioticManual Assertion Based On ExperimentIDA:MGI
Type I interferon signaling pathwayTAS:Reactome
Cellular Location
Endomembrane system. Wholly intracellular, possibly membrane associated.
Involvement in disease
Autoinflammation, immune dysregulation, and eosinophilia (AIIDE):
An autosomal dominant disorder characterized by immune dysregulation, severe atopic dermatitis, and chronic gastrointestinal inflammation. Additional features include asthma, food or environmental allergies, as well as poor overall growth with short stature.
PTM
Autophosphorylated (PubMed:7615558).
Phosphorylated on tyrosine residues in response to interferon gamma signaling (PubMed:7615558).
Dephosphorylation of Tyr-1034 and Tyr-1035 by PTPN2 negatively regulates cytokine-mediated signaling (PubMed:11909529).
Ubiquitinated by RNF125; leading to its degradation by the proteasome.
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Datasheet