JAK1 Gene: Function, Mutations, and Disease Associations | Biomedical Resource

JAK1 (Janus kinase 1) is a protein-coding gene that encodes a member of the Janus kinase (JAK) family of non-receptor tyrosine kinases. JAK1 plays a central role in cytokine and growth factor signaling through the JAK-STAT pathway. It is involved in the signaling of various cytokines, including interleukins, interferons, and growth factors. JAK1 is essential for immune responses, hematopoiesis, and inflammation. Mutations in JAK1 are associated with various cancers, including acute lymphoblastic leukemia, breast cancer, and colorectal cancer, as well as with immune disorders such as autosomal recessive T-cell acute lymphoblastic leukemia and autosomal dominant hyper-IgE syndrome.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• JAK-STAT signaling pathway

• Cytokine-cytokine receptor interaction

• Interferon signaling

• Interleukin signaling

• Growth hormone signaling

• Prolactin signaling

• Th17 cell differentiation

• T cell receptor signaling

JAK1 is a 1153-amino acid protein with a molecular weight of approximately 130 kDa. It contains a FERM domain, an SH2-like domain, a pseudokinase domain, and a tyrosine kinase domain. JAK1 associates with various cytokine receptors and phosphorylates STAT proteins, which then translocate to the nucleus to regulate gene expression. JAK1 is critical for the signaling of type I and type II cytokine receptors, including those for interleukins, interferons, and growth factors. Its activity is tightly regulated; dysregulation leads to disease.