INGR1_HUMAN » Interferon gamma receptor 1

INGR1_HUMAN » Interferon gamma receptor 1
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Topology in Plasma membrane
Topologyextracellular side
cytoplasmic side
INGR1_HUMAN » Interferon gamma receptor 1 » IFN-gamma receptor 1; IFN-gamma-R1; CDw119;
Hydrophobic Thickness 38.0 ± 1.4 Å
Tilt Angle 0 ± 0°
ΔGtransfer -51.2 kcal/mol
ΔGfold -24.2 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC
Topology Out
TM Segments 244-270 (241-273)
Pathways

Chagas disease (KEGG)

Cytokine-cytokine receptor interaction (KEGG)

Herpes simplex infection (KEGG)

HIF-1 signaling pathway (KEGG)

Immune System (Reactome)

Influenza A (KEGG)

Jak-STAT signaling pathway (KEGG)

Leishmaniasis (KEGG)

Measles (KEGG)

Natural killer cell mediated cytotoxicity (KEGG)

Osteoclast differentiation (KEGG)

Salmonella infection (KEGG)

Toxoplasmosis (KEGG)

Tuberculosis (KEGG)

PDB 1fyh (B/E=18-246), 1fg9 (C/D/E=18-262), 1jrh (I=18-125)
OPM none
Complexes none
Interactions

CALX, Complex: CALX:INGR1, PubMed

INGR2, Complex: INGR2:INGR1, PubMed

Domains

AA: 2-113, PDBID: 1FG9, Subunit C, Seq Identity:100%, Tissue factor

AA: 161-324, PDBID: 1FG9, Subunit D, Seq Identity:100%, Interferon gamma receptor (IFNGR1)

UniProt annotation for INGR1_HUMAN » Interferon gamma receptor 1
FUNCTION: Receptor for interferon gamma. Two receptors bind one interferon gamma dimer.

SUBUNIT: Monomer.

DISEASE: Immunodeficiency 27A (IMD27A) OMIM: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.

DISEASE: Immunodeficiency 27B (IMD27B) OMIM: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.

UniProt features for INGR1_HUMAN » Interferon gamma receptor 1
SIGNAL 1 17
CHAIN 18 489 Interferon gamma receptor 1.
DISULFID 77 85
DISULFID 122 167
DISULFID 195 200
DISULFID 214 235
Amino Acid Sequence for INGR1_HUMAN » Interferon gamma receptor 1
MALLFLLPLV MQGVSRAEMG TADLGPSSVP TPTNVTIESY NMNPIVYWEY QIMPQVPVFT VEVKNYGVKN SEWIDACINI SHHYCNISDH VGDPSNSLWV RVKARVGQKE SAYAKSEEFA VCRDGKIGPP KLDIRKEEKQ IMIDIFHPSV FVNGDEQEVD YDPETTCYIR VYNVYVRMNG SEIQYKILTQ KEDDCDEIQC QLAIPVSSLN SQYCVSAEGV LHVWGVTTEK SKEVCITIFN SSIKGSLWIP VVAALLLFLV LSLVFICFYI KKINPLKEKS IILPKSLISV VRSATLETKP ESKYVSLITS YQPFSLEKEV VCEEPLSPAT VPGMHTEDNP GKVEHTEELS SITEVVTTEE NIPDVVPGSH LTPIERESSS PLSSNQSEPG SIALNSYHSR NCSESDHSRN GFDTDSSCLE SHSSLSDSEF PPNNKGEIKT EGQELITVIK APTSFGYDKP HVLVDLLVDD SGKESLIGYR PTEDSKEFS