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CDw119; interferon-gamma receptor alpha chain; IFN-gamma-R1; CD119 (IFNGR1)
Function:
- receptor for interferon gamma
- 2 receptors bind 1 interferon-gamma dimer
- phosphorylated at Ser/Thr
Structure:
- monomer
- belongs to the type 2 cytokine receptor family
- contains 2 fibronectin F3 modules
- contains 2 Ig-like C2-type domains (immunoglobulin-like)
Compartment:
- membrane
Polymorphism:
- genetic variation in the IFNGR1 gene is associated with susceptibility to Helicobacter pylori infection [MIM:600263]
Pathology:
- defects in IFNGR1 are a cause of Mendelian susceptibility to mycobacterial disease [8]
General
cluster-of-differentiation antigen; cluster designation antigen; CD antigen
cytokine receptor
glycoprotein
protein subunit
Properties
SIZE: entity length = 489 aa
MW = 54 kD
COMPARTMENT: cellular membrane
MOTIF: signal sequence {1-17}
N-glycosylation site {N34}
cysteine residue {C77}
MODIFICATION: cysteine residue {C85}
N-glycosylation site {N79}
cysteine residue {C85}
MODIFICATION: cysteine residue {C77}
N-glycosylation site {N86}
cysteine residue {C122}
MODIFICATION: cysteine residue {C167}
cysteine residue {C167}
MODIFICATION: cysteine residue {C122}
N-glycosylation site {N179}
cysteine residue {C195}
MODIFICATION: cysteine residue {C200}
cysteine residue {C200}
MODIFICATION: cysteine residue {C195}
cysteine residue {C214}
MODIFICATION: cysteine residue {C235}
cysteine residue {C235}
MODIFICATION: cysteine residue {C214}
N-glycosylation site {N240}
transmembrane domain {246-266}
Ser phosphorylation site {S369}
Database Correlations
OMIM correlations
MORBIDMAP 107470
UniProt P15260
Pfam PF07140
Kegg hsa:3459
References
- UniProt :accession P15260
- IFNGR1base; Note: IFNGR1 mutation db
http://bioinf.uta.fi/IFNGR1base/
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=IFNGR1
- SeattleSNPs
http://pga.gs.washington.edu/data/ifngr1/
- Taga T & Kishimoto T
Cytokine receptors and signal transduction
FASEB J 6:3387 1992
PMID: 1334470
- Ihle JN et al
Signaling by the cytokine receptor superfamily: JAKs and STATs
TIBS 19:222 1994
PMID: 8048164
- http://www.pathologyoutlines.com/cd100247.html
21 June 2005
- Holland SM, Pierce VM, Shailam R, Glomski K, Farmer JR.
Case 28-2017. A 13-Month-Old Girl with Pneumonia and a
33-Year-Old Woman with Hip Pain.
N Engl J Med. 2017 Sep 14;377(11):1077-1091.
PMID: 28902581
http://www.nejm.org/doi/full/10.1056/NEJMcpc1706097
Component-of
interferon [IFN] gamma receptor