IFNGR1
entrez
3459
canonical
uniprot
P15260
canonical
ensembl
ENSG00000027697
resolver
ensp
ENSP00000356713
resolver
ensp
ENSP00000394230
resolver
ensp
ENSP00000494069
resolver
ensp
ENSP00000495103
resolver
ensp
ENSP00000495272
resolver
ensp
ENSP00000496387
resolver
ensp
ENSP00000496549
resolver
ensp
ENSP00000512814
resolver
enst
ENST00000414770
resolver
enst
ENST00000644894
resolver
enst
ENST00000645753
resolver
enst
ENST00000646036
resolver
enst
ENST00000646898
resolver
enst
ENST00000647124
resolver
enst
ENST00000696693
resolver
genesymbol
IFNGR1
resolver
hgnc
HGNC:5439
resolver
uniprot
A0A0S2Z3Y2
resolver
uniprot
A0A2R8Y4U4
resolver
uniprot
A0A2R8YFL3
resolver
uniprot
B4DFT7
resolver
uniprot
E1P587
resolver
uniprot
Q53Y96
resolver
uniprot
Q5TFD1
resolver
uniprot_entry
A0A0S2Z3Y2_HUMAN
resolver
uniprot_entry
A0A2R8Y4U4_HUMAN
resolver
uniprot_entry
A0A2R8YFL3_HUMAN
resolver
uniprot_entry
INGR1_HUMAN
resolver
uniprot_sec
B4DFT7
resolver
uniprot_sec
E1P587
resolver
uniprot_sec
Q53Y96
resolver
uniprot_sec
Q5TFD1
resolver
amino_acid_sequence
MALLFLLPLVMQGVSRAEMGTADLGPSSVPTPTNVTIESYNMNPIVYWEYQIMPQVPVFTVEVKNYGVKNSEWIDACINISHHYCNISDHVGDPSNSLWVRVKARVGQKESAYAKSEEFAVCRDGKIGPPKLDIRKEEKQIMIDIFHPSVFVNGDEQEVDYDPETTCYIRVYNVYVRMNGSEIQYKILTQKEDDCDEIQCQLAIPVSSLNSQYCVSAEGVLHVWGVTTEKSKEVCITIFNSSIKGSLWIPVVAALLLFLVLSLVFICFYIKKINPLKEKSIILPKSLISVVRSATLETKPESKYVSLITSYQPFSLEKEVVCEEPLSPATVPGMHTEDNPGKVEHTEELSSITEVVTTEENIPDVVPGSHLTPIERESSSPLSSNQSEPGSIALNSYHSRNCSESDHSRNGFDTDSSCLESHSSLSDSEFPPNNKGEIKTEGQELITVIKAPTSFGYDKPHVLVDLLVDDSGKESLIGYRPTEDSKEFS
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency 27A (IMD27A) [MIM:209950]: A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, 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. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. 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. {ECO:0000269|PubMed:10811850, ECO:0000269|PubMed:11139207, ECO:0000269|PubMed:15589309, ECO:0000269|PubMed:16195661, ECO:0000269|PubMed:16715106, ECO:0000269|PubMed:17514500, ECO:0000269|PubMed:20015550, ECO:0000269|PubMed:20186794, ECO:0000269|PubMed:22708048, ECO:0000269|PubMed:25592983, ECO:0000269|PubMed:27868075, ECO:0000269|PubMed:28744922, ECO:0000269|PubMed:9389728}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Immunodeficiency 27B (IMD27B) [MIM:615978]: A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, 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. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. 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. IMD27B commonly presents with recurrent, moderately severe infections with environmental mycobacteria or BCG. Salmonellosis is present in about 5% of patients. {ECO:0000269|PubMed:10192386, ECO:0000269|PubMed:11335768}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Receptor subunit for interferon gamma/INFG that plays crucial roles in antimicrobial, antiviral, and antitumor responses by activating effector immune cells and enhancing antigen presentation (PubMed:20015550). Associates with transmembrane accessory factor IFNGR2 to form a functional receptor (PubMed:10986460, PubMed:2971451, PubMed:7615558, PubMed:7617032, PubMed:7673114). Upon ligand binding, the intracellular domain of IFNGR1 opens out to allow association of downstream signaling components JAK1 and JAK2. In turn, activated JAK1 phosphorylates IFNGR1 to form a docking site for STAT1. Subsequent phosphorylation of STAT1 leads to dimerization, translocation to the nucleus, and stimulation of target gene transcription (PubMed:28883123). STAT3 can also be activated in a similar manner although activation seems weaker. IFNGR1 intracellular domain phosphorylation also provides a docking site for SOCS1 that regulates the JAK-STAT pathway by competing with STAT1 binding to IFNGR1 (By similarity). {ECO:0000250|UniProtKB:P15261, ECO:0000269|PubMed:10986460, ECO:0000269|PubMed:20015550, ECO:0000269|PubMed:28883123, ECO:0000269|PubMed:2971451, ECO:0000269|PubMed:7615558, ECO:0000269|PubMed:7617032, ECO:0000269|PubMed:7673114}.
uniprot
proteins
mass_dalton
54405
uniprot
proteins
mutagenesis
MUTAGEN 61; /note="V->Q: Loss of function in the interferon-gamma-mediated signaling pathway."; /evidence="ECO:0000269|PubMed:20015550"; MUTAGEN 277; /note="K->R: Strong decreased level of ubiquitination; when associated with R-279 and R-285."; /evidence="ECO:0000269|PubMed:28883123"; MUTAGEN 279; /note="K->R: Strong decreased level of ubiquitination; when associated with R-277 and R-285."; /evidence="ECO:0000269|PubMed:28883123"; MUTAGEN 285; /note="K->R: Strong decreased level of ubiquitination; when associated with R-277 and R-279."; /evidence="ECO:0000269|PubMed:28883123
uniprot
proteins
post_translational_modification
PTM: Phosphorylated at Ser/Thr residues. Phosphorylation of Tyr-457 is required for IFNG receptor signal transduction (PubMed:8156998). Influenza virus infection leads to phosphorylation in a CSNK1A1-dependent manner (PubMed:29343571). {ECO:0000269|PubMed:29343571, ECO:0000269|PubMed:7615558, ECO:0000269|PubMed:7673114, ECO:0000269|PubMed:8156998}.; PTM: Ubiquitinated after phosphorylation in a CSNK1A1-dependent manner, leading to the lysosome-dependent degradation (PubMed:29343571). Proteasomally degraded through 'Lys-48'-mediated ubiquitination (PubMed:28883123). Ubiquitination is necessary for efficient IFNGR1 signaling (PubMed:28883123). {ECO:0000269|PubMed:28883123, ECO:0000269|PubMed:29343571}.
uniprot
proteins
protein_family
Type II cytokine receptor family
uniprot
proteins
pubmed
10079289
uniprot
proteins
pubmed
10192386
uniprot
proteins
pubmed
10811850
uniprot
proteins
pubmed
10986460
uniprot
proteins
pubmed
11139207
uniprot
proteins
pubmed
11240951
uniprot
proteins
pubmed
11335768
uniprot
proteins
pubmed
12516030
uniprot
proteins
pubmed
12851715
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15589309
uniprot
proteins
pubmed
16195661
uniprot
proteins
pubmed
16715106
uniprot
proteins
pubmed
17514500
uniprot
proteins
pubmed
20015550
uniprot
proteins
pubmed
20186794
uniprot
proteins
pubmed
22708048
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25592983
uniprot
proteins
pubmed
26343451
uniprot
proteins
pubmed
27868075
uniprot
proteins
pubmed
28744922
uniprot
proteins
pubmed
28883123
uniprot
proteins
pubmed
29343571
uniprot
proteins
pubmed
2971451
uniprot
proteins
pubmed
7615558
uniprot
proteins
pubmed
7617032
uniprot
proteins
pubmed
7673114
uniprot
proteins
pubmed
8156998
uniprot
proteins
pubmed
8443182
uniprot
proteins
pubmed
9367779
uniprot
proteins
pubmed
9389728
uniprot
proteins
sequence_length
489
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10811850, ECO:0000269|PubMed:28883123}; Single-pass type I membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 246..266; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins