IFNGR1

Description

The IFNGR1 (interferon gamma receptor 1) is a protein-coding gene located on chromosome 6.

Interferon gamma receptor 1 (IFNGR1), also known as CD119 (Cluster of Differentiation 119), is a protein encoded by the IFNGR1 gene in humans. It serves as the ligand-binding chain (alpha) of the heterodimeric gamma interferon receptor, found on macrophages. The other subunit of the receptor, IFNGR2, is encoded by the IFNGR2 gene and does not bind ligands. Mutations in the IFNGR1 gene can lead to increased susceptibility to Mycobacterial infections. A database exists to track all known mutations and common variations in IFNGR1.

IFNGR1 is a receptor subunit for interferon gamma (IFN-gamma or INFG), playing a critical role in antimicrobial, antiviral, and antitumor responses by activating effector immune cells and enhancing antigen presentation. It forms a functional receptor by associating with the transmembrane accessory factor IFNGR2. Upon ligand binding, the intracellular domain of IFNGR1 opens up, allowing downstream signaling components JAK1 and JAK2 to associate. Activated JAK1 phosphorylates IFNGR1, creating a docking site for STAT1. Subsequent STAT1 phosphorylation leads to dimerization, translocation to the nucleus, and stimulation of target gene transcription. STAT3 can also be activated in a similar manner, although its activation appears weaker. IFNGR1 intracellular domain phosphorylation also provides a docking site for SOCS1, which regulates the JAK-STAT pathway by competing with STAT1 binding to IFNGR1.

IFNGR1 is also known as CD119, IFNGR, IMD27A, IMD27B.

Associated Diseases

• Behçet disease
• Immunodeficiency 27B
• Helicobacter pylori infection, susceptibility to
• Immunodeficiency 27A, mycobacteriosis, AR