NP_000407.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
interferon gamma receptor 1
NCBI Official Synonym Full Names
interferon gamma receptor 1
NCBI Protein Information
interferon gamma receptor 1
UniProt Protein Name
Interferon gamma receptor 1
UniProt Synonym Protein Names
CDw119; CD_antigen: CD119
UniProt Synonym Gene Names
UniProt Entry Name
INGR1_HUMAN
NCBI Summary for IFNGR1
This gene (IFNGR1) encodes the ligand-binding chain (alpha) of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. A genetic variation in IFNGR1 is associated with susceptibility to Helicobacter pylori infection. In addition, defects in IFNGR1 are a cause of mendelian susceptibility to mycobacterial disease, also known as familial disseminated atypical mycobacterial infection. [provided by RefSeq, Jul 2008]
UniProt Comments for IFNGR1
IFNGR1: Receptor for interferon gamma. Two receptors bind one interferon gamma dimer. Defects in IFNGR1 are a cause of mendelian susceptibility to mycobacterial disease (MSMD); also known as familial disseminated atypical mycobacterial infection. This rare condition confers predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine and environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. The pathogenic mechanism underlying MSMD is the impairment of interferon-gamma mediated immunity whose severity determines the clinical outcome. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance. Belongs to the type II cytokine receptor family.
Protein type: Membrane protein, integral; Receptor, cytokine
Chromosomal Location of Human Ortholog: 6q23.3
Cellular Component: integral to plasma membrane; plasma membrane
Molecular Function: interferon-gamma receptor activity; interleukin-20 binding; protein binding
Biological Process: cytokine and chemokine mediated signaling pathway; response to virus; signal transduction
Disease: Helicobacter Pylori Infection, Susceptibility To; Hepatitis B Virus, Susceptibility To; Immunodeficiency 27a; Immunodeficiency 27b; Mycobacterium Tuberculosis, Susceptibility To
Research Articles on IFNGR1
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Products associated with anti-IFNGR1 antibody
Pathways associated with anti-IFNGR1 antibody
Diseases associated with anti-IFNGR1 antibody
Organs/Tissues associated with anti-IFNGR1 antibody
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