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FLASH GENE
Symbol IFNGR1 contributors: mct - updated : 05-09-2017
HGNC name interferon gamma receptor 1
HGNC id 5439
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a cytoplasmic domain
  • two fibronectin type-III domains
  • two Ig-like C2-type (immunoglobulin-like) domains
  • a IFNGR1 270-LI-271 dileucine motif, previously thought to be involved in this receptor endocytosis, showed to be unnecessary for receptor endocytosis
  • the YDKPH sequence near the C-terminus, required for IFNG-dependent cellular responses through STAT1 binding
  • mono polymer monomer
    HOMOLOGY
    interspecies homolog to rattus Ifngr (51.30 pc)
    homolog to murine Ifngr1 (53.55 pc)
    Homologene
    FAMILY type II cytokine receptor family
    CATEGORY signaling cytokine , receptor
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    text secreted by natural killer (NK) and T lymphocytes
    basic FUNCTION
  • ligand-binding chain (alpha) of the heterodimeric gamma interferon receptor
  • host IFNGR1 signaling controls the magnitude of CD8(+) T cell responses and subsequent memory differentiation under lymphopenic and nonlymphopenic conditions
  • IFNGR1 signaling regulates autoimmune, but not the foreign antigen-driven, germinal centers and T helper cell (TFH cell) responses
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component constituent of transmembrane
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • endogenous STAT1 and IFNGR1 in target cells are indispensable to sustain the activation of STAT1 signaling by extracellular vesicles (EVs)-associated IFNG/IFNGR1 complexes
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) IMD27A
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    deletion/insertion polymorphism in Africans but not Europeans or Asians, and associated with resistance to severe malaria.
    Susceptibility
  • to H. pylori infection
  • schistosomal hepatic fibrosis
  • to malaria
  • to tuberculosis (TB)
  • to mycobacterial disease
  • Variant & Polymorphism SNP , insertion/deletion , other
  • IFNGR1-56T and IFNGR1-470ins/del associated with susceptibility to malaria
  • genetic polymorphisms in the promoter of IFNGR1 gene are associated with atopic cataracts
  • certain genetic variants in IFNGR1 genes may be associated with TB development
  • paternal uniparental isodisomy of chromosome 6 causing mycobacterial disease suceptibility with primary immunodeficiency
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS