INGR1_HUMAN
Source:
BD_CD
Marked as 'Integral membrane protein'
Confidence:
high (a blood group or CD marker)
Search PubMed for
(RBC AND this entry)
Gene names:
IFNGR1
Protein names and data:
INGR1_HUMAN
, Interferon gamma receptor 1; IFN-gamma receptor 1; IFN-gamma-R1
, CDw119; CD119; Flags: Precursor
Lenght: 489 a.a.
Mass: 54405 Da
fasta formatted sequence
Function:
Receptor for interferon gamma. Two receptors bind one interferon gamma dimer.
Disease:
( OMIM:
107470
209950
600263
)
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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Membrane; Single-pass type I membrane protein.
Genetic variants
A genetic variation in the IFNGR1 gene is associated with susceptibility to Helicobacter pylori infection [MIM:600263].
61 - 61
V -> I (in dbSNP:rs17175322). VAR_019281
17175322
77 - 77
C -> Y (in MSMD; fails to bind IFN- gamma). VAR_017577
87 - 87
I -> T (in MSMD; impaired response to IFN-gamma). VAR_017578
99 - 102
Missing (in MSMD; fails to bind IFN- gamma). VAR_017579
335 - 335
H -> P (in dbSNP:rs17175350). VAR_019282
17175350
467 - 467
L -> P (in dbSNP:rs1887415). VAR_019283
1887415
Database cross-references
UniProt:
P15260
Ensembl:
ENST00000367739
MIM:
107470
MIM:
209950
MIM:
600263
neXtProt:
NX_P15260
Antibodypedia:
P15260
(may not find the protein thus also not any antibody)
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