IFNGR1
Interferon gamma receptor 1
Also known as: CD119, IFNGR, INGR1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P15260
- Gene
- IFNGR1
- Ensembl
- ENSG00000027697
- Chromosome
- 6
- Canonical length
- 489 aa
- Protein class
- CD markers, Disease related genes, FDA approved drug targets, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Plasma membrane
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
489 residues, UniProt reviewed canonical sequence.
>P15260|IFNGR1
1 MALLFLLPLV MQGVSRAEMG TADLGPSSVP TPTNVTIESY NMNPIVYWEY QIMPQVPVFT
61 VEVKNYGVKN SEWIDACINI SHHYCNISDH VGDPSNSLWV RVKARVGQKE SAYAKSEEFA
121 VCRDGKIGPP KLDIRKEEKQ IMIDIFHPSV FVNGDEQEVD YDPETTCYIR VYNVYVRMNG
181 SEIQYKILTQ KEDDCDEIQC QLAIPVSSLN SQYCVSAEGV LHVWGVTTEK SKEVCITIFN
241 SSIKGSLWIP VVAALLLFLV LSLVFICFYI KKINPLKEKS IILPKSLISV VRSATLETKP
301 ESKYVSLITS YQPFSLEKEV VCEEPLSPAT VPGMHTEDNP GKVEHTEELS SITEVVTTEE
361 NIPDVVPGSH LTPIERESSS PLSSNQSEPG SIALNSYHSR NCSESDHSRN GFDTDSSCLE
421 SHSSLSDSEF PPNNKGEIKT EGQELITVIK APTSFGYDKP HVLVDLLVDD SGKESLIGYR
481 PTEDSKEFSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against IFNGR1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.51
- Highest tissue expression
- 154 nTPM
Expression across tissuesHPA
Tissue
- lung: 154 nTPM
- spleen: 153 nTPM
- adipose tissue: 141 nTPM
- lymph node: 129 nTPM
- tonsil: 124 nTPM
- bone marrow: 121 nTPM
Single-cell type
- neutrophils: 1,083 nCPM
- microglia: 674 nCPM
- kupffer cells: 521 nCPM
- cdc: 375 nCPM
- monocytes: 360 nCPM
- syncytiotrophoblasts: 346 nCPM
Immune cell
- neutrophil: 665 nTPM
- total PBMC: 449 nTPM
- classical monocyte: 448 nTPM
- intermediate monocyte: 438 nTPM
- non-classical monocyte: 332 nTPM
- eosinophil: 314 nTPM
Brain region
- white matter: 105 nTPM
- medulla oblongata: 85 nTPM
- spinal cord: 70 nTPM
- pons: 66 nTPM
- cerebellum: 61 nTPM
- thalamus: 55 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about IFNGR1.
Disease | AllUniProt
Conditions IFNGR1 is implicated in, by any mechanism.
- Immunodeficiency 27A (IMD27A) MIM:209950
- Immunodeficiency 27B (IMD27B) MIM:615978
Disease | GeneticClinVar
36 pathogenic / likely-pathogenic of 439 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Immunodeficiency 27A
- Disseminated atypical mycobacterial infection
- Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
- Mycobacterium tuberculosis, susceptibility to
- IFN-gamma receptor 1 deficiency
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.7
- gnomAD pLI
- 0.02
- gnomAD missense Z
- 0.31
- DepMap mean gene effect
- 0.07
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- astrocyte activation
- cellular response to virus
- cytokine-mediated signaling pathway
- defense response to virus
- microglial cell activation
- negative regulation of amyloid-beta clearance
- positive regulation of amyloid-beta formation
- positive regulation of gene expression
- positive regulation of tumor necrosis factor production
- response to virus
- signal transduction
- type II interferon-mediated signaling pathway
- type III interferon-mediated signaling pathway
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Fibronectin type III
- Immunoglobulin-like fold
- Fibronectin type III superfamily
- Tissue factor
- Interferon gamma receptor alpha subunit
- Interferon gamma receptor, D2 domain, poxvirus/mammal
- Interferon gamma receptor (IFNGR1), D2 domain
- Interferon gamma receptor 1, transmembrane region
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of IFNGR1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads IFNGR1 as an antibody target. Whether an autoantibody or antibody against IFNGR1 could matter depends on whether native IFNGR1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
IFNGR1 is annotated at the cell surface, where native IFNGR1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label IFNGR1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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