InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: IFNGR1

Summary

InnateDB Protein

IDBP-97022.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

IFNGR1

Protein Name

interferon gamma receptor 1

Synonyms

CD119; IFNGR; IMD27A; IMD27B;

Species

Homo sapiens

Ensembl Protein

ENSP00000356713

InnateDB Gene

IDBG-97020 (IFNGR1)

Protein Structure

UniProt Annotation

Function

Receptor for interferon gamma. Two receptors bind one interferon gamma dimer.

Subcellular Localization

Membrane; Single-pass type I membrane protein.

Disease Associations

Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]: 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. {ECO:0000269PubMed:10811850, ECO:0000269PubMed:9389728}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 31 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.

Experimentally validated
Total	31 [view]
Protein-Protein	19 [view]
Protein-DNA	11 [view]
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	5 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004906	interferon-gamma receptor activity
GO:0005515	protein binding
GO:0019955	cytokine binding

Biological Process

GO:0007165	signal transduction
GO:0009615	response to virus
GO:0019221	cytokine-mediated signaling pathway
GO:0045087	innate immune response (InnateDB)
GO:0060333	interferon-gamma-mediated signaling pathway
GO:0060334	regulation of interferon-gamma-mediated signaling pathway

Cellular Component

GO:0005783	endoplasmic reticulum
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0014069	postsynaptic density
GO:0016020	membrane
GO:0030425	dendrite
GO:0031982	vesicle

Protein Structure and Domains

PDB ID

InterPro

IPR003961 Fibronectin, type III
IPR008355 Interferon gamma receptor alpha subunit
IPR015373 Interferon alpha/beta receptor, beta chain
IPR021126 Interferon gamma receptor, poxvirus/mammal

PFAM

PF00041
PF01108
PF09294
PF07140

PRINTS

PR01777

PIRSF

SMART

SM00060

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt