JAK1

JAK1 (Janus Kinase 1) is a non-receptor tyrosine kinase that plays a pivotal role in cytokine signal transduction. Contains four major domains: FERM domain for receptor binding, SH2-like domain for receptor interaction, pseudokinase domain for regulation, and active kinase domain for catalytic activity. Essential for Type I/II interferon signaling, IL-6 family cytokines, and γc-dependent cytokine pathways. Required for immune cell development, antiviral responses, and inflammatory processes. Mutations cause cancer (gain-of-function) or severe immunodeficiency (loss-of-function). Target of therapeutic JAK inhibitors.

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

• jak_stat_pathway_activation via Autoinflammation, immune dysregulation, and eosinophilia, Breast Implant-Associated Anaplastic Large Cell Lymphoma named in the module itself