UniProtKB - P15260 (INGR1_HUMAN)
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Protein
Interferon gamma receptor 1
Gene
IFNGR1
Organism
Homo sapiens (Human)
Status
Functioni
Associates with IFNGR2 to form a receptor for the cytokine interferon gamma (IFNG) (PubMed:7615558, PubMed:2971451, PubMed:7617032, PubMed:10986460). Ligand binding stimulates activation of the JAK/STAT signaling pathway (PubMed:7673114). Plays an essential role in the IFN-gamma pathway that is required for the cellular response to infectious agents (PubMed:20015550).6 Publications
GO - Molecular functioni
- cytokine binding Source: InterPro
- interferon-gamma receptor activity Source: ProtInc
GO - Biological processi
- interferon-gamma-mediated signaling pathway Source: Reactome
- regulation of interferon-gamma-mediated signaling pathway Source: Reactome
- response to virus Source: ProtInc
- signal transduction Source: ProtInc
Keywordsi
Molecular function | Receptor |
Enzyme and pathway databases
Reactomei | R-HSA-877300. Interferon gamma signaling. R-HSA-877312. Regulation of IFNG signaling. |
SignaLinki | P15260. |
SIGNORi | P15260. |
Names & Taxonomyi
Protein namesi | Recommended name: Interferon gamma receptor 1ImportedShort name: IFN-gamma receptor 1 Short name: IFN-gamma-R1 Alternative name(s): CDw119 Interferon gamma receptor alpha-chain2 Publications Short name: IFN-gamma-R-alpha1 Publication CD_antigen: CD119 |
Gene namesi | Name:IFNGR1Imported |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000027697.12. |
HGNCi | HGNC:5439. IFNGR1. |
MIMi | 107470. gene. |
neXtProti | NX_P15260. |
Subcellular locationi
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 18 – 245 | ExtracellularSequence analysisAdd BLAST | 228 | |
Transmembranei | 246 – 266 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 267 – 489 | CytoplasmicSequence analysisAdd BLAST | 223 |
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Involvement in diseasei
Immunodeficiency 27A (IMD27A)13 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:209950Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080059 | 37 | I → T in IMD27A. 1 Publication | 1 | |
Natural variantiVAR_080060 | 61 | V → E in IMD27A; interferon-gamma-mediated signaling pathway completely abrogated. 2 Publications | 1 | |
Natural variantiVAR_080062 | 63 | V → G in IMD27A; interferon-gamma-mediated signaling pathway severely reduced although not completely abrogated. 2 Publications | 1 | |
Natural variantiVAR_080063 | 66 | Y → C in IMD27A; could be detected on the cell surface; interferon-gamma-mediated signaling pathway completely abrogated. 2 Publications | 1 | |
Natural variantiVAR_080064 | 77 | C → F in IMD27A; interferon-gamma-mediated signaling pathway completely abrogated. 2 Publications | 1 | |
Natural variantiVAR_017577 | 77 | C → Y in IMD27A; fails to bind IFN-gamma; could be detected on the cell surface; interferon-gamma-mediated signaling pathway completely abrogated. 3 PublicationsCorresponds to variant dbSNP:rs104893974Ensembl. | 1 | |
Natural variantiVAR_080065 | 85 | C → Y in IMD27A; interferon-gamma-mediated signaling pathway completely abrogated. 2 Publications | 1 | |
Natural variantiVAR_017578 | 87 | I → T in IMD27A; interferon-gamma-mediated signaling pathway severely reduced. 3 PublicationsCorresponds to variant dbSNP:rs104893973Ensembl. | 1 | |
Natural variantiVAR_017579 | 99 – 102 | Missing in IMD27A; fails to bind IFN-gamma. 1 Publication | 4 | |
Natural variantiVAR_080066 | 113 – 489 | Missing in IMD27A. 1 PublicationAdd BLAST | 377 | |
Natural variantiVAR_080070 | 218 | Missing in IMD27A. 1 Publication | 1 | |
Natural variantiVAR_080071 | 219 | G → R in IMD27A. 1 Publication | 1 | |
Natural variantiVAR_080072 | 224 – 489 | Missing in IMD27A. 1 PublicationAdd BLAST | 266 | |
Natural variantiVAR_080076 | 485 | S → F in IMD27A. 1 Publication | 1 |
Immunodeficiency 27B (IMD27B)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:615978Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080073 | 278 – 489 | Missing in IMD27B. 1 PublicationAdd BLAST | 212 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 61 | V → Q: Loss of function in the interferon-gamma-mediated signaling pathway. 1 Publication | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 3459. |
MalaCardsi | IFNGR1. |
MIMi | 209950. phenotype. 600263. phenotype. 615978. phenotype. |
OpenTargetsi | ENSG00000027697. |
Orphaneti | 319581. Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency. 319569. Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency. 99898. Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency. |
PharmGKBi | PA29675. |
Chemistry databases
ChEMBLi | CHEMBL2364171. |
DrugBanki | DB00033. Interferon gamma-1b. |
Polymorphism and mutation databases
BioMutai | IFNGR1. |
DMDMi | 124474. |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 17 | Add BLAST | 17 | |
ChainiPRO_0000011009 | 18 – 489 | Interferon gamma receptor 1Add BLAST | 472 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 34 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 77 ↔ 85 | 1 Publication | ||
Glycosylationi | 79 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 86 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 122 ↔ 167 | 1 Publication | ||
Glycosylationi | 179 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 195 ↔ 200 | 1 Publication | ||
Disulfide bondi | 214 ↔ 235 | 1 Publication | ||
Glycosylationi | 240 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 369 | PhosphoserineBy similarity | 1 | |
Modified residuei | 372 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 378 | PhosphoserineBy similarity | 1 | |
Modified residuei | 403 | PhosphoserineBy similarity | 1 |
Post-translational modificationi
Phosphorylated at Ser/Thr residues.2 Publications
Keywords - PTMi
Disulfide bond, Glycoprotein, PhosphoproteinProteomic databases
EPDi | P15260. |
MaxQBi | P15260. |
PaxDbi | P15260. |
PeptideAtlasi | P15260. |
PRIDEi | P15260. |
PTM databases
iPTMneti | P15260. |
PhosphoSitePlusi | P15260. |
SwissPalmi | P15260. |
UniCarbKBi | P15260. |
Expressioni
Gene expression databases
Bgeei | ENSG00000027697. |
CleanExi | HS_IFNGR1. |
ExpressionAtlasi | P15260. baseline and differential. |
Genevisiblei | P15260. HS. |
Organism-specific databases
HPAi | HPA029213. HPA063871. |
Interactioni
Subunit structurei
Monomer (PubMed:9367779). Heterodimer with IFNGR2, to form the IFNG receptor complex (PubMed:7615558). Interacts with JAK1 (PubMed:7615558).2 Publications
Binary interactionsi
GO - Molecular functioni
- cytokine binding Source: InterPro
Protein-protein interaction databases
BioGridi | 109681. 31 interactors. |
DIPi | DIP-47N. |
IntActi | P15260. 7 interactors. |
MINTi | P15260. |
STRINGi | 9606.ENSP00000356713. |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more detailsFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Beta strandi | 33 – 38 | Combined sources | 6 | |
Beta strandi | 40 – 42 | Combined sources | 3 | |
Beta strandi | 45 – 49 | Combined sources | 5 | |
Beta strandi | 58 – 65 | Combined sources | 8 | |
Beta strandi | 69 – 71 | Combined sources | 3 | |
Beta strandi | 74 – 86 | Combined sources | 13 | |
Helixi | 88 – 90 | Combined sources | 3 | |
Beta strandi | 98 – 106 | Combined sources | 9 | |
Helixi | 121 – 124 | Combined sources | 4 | |
Beta strandi | 131 – 136 | Combined sources | 6 | |
Beta strandi | 138 – 146 | Combined sources | 9 | |
Helixi | 149 – 151 | Combined sources | 3 | |
Beta strandi | 168 – 178 | Combined sources | 11 | |
Beta strandi | 181 – 191 | Combined sources | 11 | |
Beta strandi | 197 – 205 | Combined sources | 9 | |
Beta strandi | 212 – 221 | Combined sources | 10 | |
Turni | 222 – 224 | Combined sources | 3 | |
Beta strandi | 234 – 237 | Combined sources | 4 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1FG9 | X-ray | 2.90 | C/D/E | 18-262 | [»] | |
1FYH | X-ray | 2.04 | B/E | 18-246 | [»] | |
1JRH | X-ray | 2.80 | I | 18-125 | [»] | |
ProteinModelPortali | P15260. | |||||
SMRi | P15260. | |||||
ModBasei | Search... | |||||
MobiDBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P15260. |
Family & Domainsi
Sequence similaritiesi
Belongs to the type II cytokine receptor family.Curated
Keywords - Domaini
Immunoglobulin domain, Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG410IG11. Eukaryota. ENOG411218K. LUCA. |
GeneTreei | ENSGT00510000048929. |
HOGENOMi | HOG000113074. |
HOVERGENi | HBG052128. |
InParanoidi | P15260. |
KOi | K05132. |
OMAi | NSYHSRN. |
OrthoDBi | EOG091G08ZD. |
PhylomeDBi | P15260. |
TreeFami | TF338358. |
Family and domain databases
Gene3Di | 2.60.40.10. 2 hits. |
InterProi | View protein in InterPro IPR003961. FN3_dom. IPR036116. FN3_sf. IPR013783. Ig-like_fold. IPR021126. Interferon_gamma_pox/mammal. IPR008355. Interferon_gamma_rcpt_asu. |
PANTHERi | PTHR20859:SF5. PTHR20859:SF5. 1 hit. |
Pfami | View protein in Pfam PF07140. IFNGR1. 1 hit. PF01108. Tissue_fac. 1 hit. |
PRINTSi | PR01777. INTERFERONGR. |
SUPFAMi | SSF49265. SSF49265. 2 hits. |
s (2)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basket
Isoform 1 (identifier: P15260-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
10 20 30 40 50
MALLFLLPLV MQGVSRAEMG TADLGPSSVP TPTNVTIESY NMNPIVYWEY
60 70 80 90 100
QIMPQVPVFT VEVKNYGVKN SEWIDACINI SHHYCNISDH VGDPSNSLWV
110 120 130 140 150
RVKARVGQKE SAYAKSEEFA VCRDGKIGPP KLDIRKEEKQ IMIDIFHPSV
160 170 180 190 200
FVNGDEQEVD YDPETTCYIR VYNVYVRMNG SEIQYKILTQ KEDDCDEIQC
210 220 230 240 250
QLAIPVSSLN SQYCVSAEGV LHVWGVTTEK SKEVCITIFN SSIKGSLWIP
260 270 280 290 300
VVAALLLFLV LSLVFICFYI KKINPLKEKS IILPKSLISV VRSATLETKP
310 320 330 340 350
ESKYVSLITS YQPFSLEKEV VCEEPLSPAT VPGMHTEDNP GKVEHTEELS
360 370 380 390 400
SITEVVTTEE NIPDVVPGSH LTPIERESSS PLSSNQSEPG SIALNSYHSR
410 420 430 440 450
NCSESDHSRN GFDTDSSCLE SHSSLSDSEF PPNNKGEIKT EGQELITVIK
460 470 480
APTSFGYDKP HVLVDLLVDD SGKESLIGYR PTEDSKEFS
Isoform 2 (identifier: P15260-2) [UniParc]FASTAAdd to basket
The sequence of this isoform differs from the canonical sequence as follows:
1-28: MALLFLLPLVMQGVSRAEMGTADLGPSS → MLLKSPENSLLQFQFKYG
184-196: QYKILTQKEDDCD → KRSCAFSLFSFFI
197-489: Missing.
Note: No experimental confirmation available.
Show »Polymorphismi
A genetic variation in the IFNGR1 gene is associated with susceptibility to Helicobacter pylori infection [: MIMi600263].
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080058 | 14 | V → M Polymorphism; may influence susceptibility to autoimmune and inflammatory diseases such as systemic lupus erythematosus, atopic asthma and atopic dermatitis complicated by eczema herpeticum; no significant effect on interferon-gamma-mediated signaling pathway. 4 PublicationsCorresponds to variant dbSNP:rs11575936Ensembl. | 1 | |
Natural variantiVAR_080059 | 37 | I → T in IMD27A. 1 Publication | 1 | |
Natural variantiVAR_080060 | 61 | V → E in IMD27A; interferon-gamma-mediated signaling pathway completely abrogated. 2 Publications | 1 | |
Natural variantiVAR_019281 | 61 | V → I Polymorphism; may influence susceptibility to atopic dermatitis complicated by eczema herpeticum; could be detected on the cell surface; no significant effect on interferon-gamma-mediated signaling pathway. 3 PublicationsCorresponds to variant dbSNP:rs17175322Ensembl. | 1 | |
Natural variantiVAR_080062 | 63 | V → G in IMD27A; interferon-gamma-mediated signaling pathway severely reduced although not completely abrogated. 2 Publications | 1 | |
Natural variantiVAR_080063 | 66 | Y → C in IMD27A; could be detected on the cell surface; interferon-gamma-mediated signaling pathway completely abrogated. 2 Publications | 1 | |
Natural variantiVAR_080064 | 77 | C → F in IMD27A; interferon-gamma-mediated signaling pathway completely abrogated. 2 Publications | 1 | |
Natural variantiVAR_017577 | 77 | C → Y in IMD27A; fails to bind IFN-gamma; could be detected on the cell surface; interferon-gamma-mediated signaling pathway completely abrogated. 3 PublicationsCorresponds to variant dbSNP:rs104893974Ensembl. | 1 | |
Natural variantiVAR_080065 | 85 | C → Y in IMD27A; interferon-gamma-mediated signaling pathway completely abrogated. 2 Publications | 1 | |
Natural variantiVAR_017578 | 87 | I → T in IMD27A; interferon-gamma-mediated signaling pathway severely reduced. 3 PublicationsCorresponds to variant dbSNP:rs104893973Ensembl. | 1 | |
Natural variantiVAR_017579 | 99 – 102 | Missing in IMD27A; fails to bind IFN-gamma. 1 Publication | 4 | |
Natural variantiVAR_080066 | 113 – 489 | Missing in IMD27A. 1 PublicationAdd BLAST | 377 | |
Natural variantiVAR_080067 | 149 | S → L Polymorphism; could be detected on the cell surface; does not affect interferon-gamma-mediated signaling pathway. 1 Publication | 1 | |
Natural variantiVAR_080068 | 180 | G → R1 Publication | 1 | |
Natural variantiVAR_080069 | 197 | E → K1 Publication | 1 | |
Natural variantiVAR_080070 | 218 | Missing in IMD27A. 1 Publication | 1 | |
Natural variantiVAR_080071 | 219 | G → R in IMD27A. 1 Publication | 1 | |
Natural variantiVAR_080072 | 224 – 489 | Missing in IMD27A. 1 PublicationAdd BLAST | 266 | |
Natural variantiVAR_080073 | 278 – 489 | Missing in IMD27B. 1 PublicationAdd BLAST | 212 | |
Natural variantiVAR_019282 | 335 | H → P Polymorphism; associated with susceptibility to Helicobacter pylori infection; no significant effect on interferon-gamma-mediated signaling pathway. 3 PublicationsCorresponds to variant dbSNP:rs17175350Ensembl. | 1 | |
Natural variantiVAR_080074 | 352 | I → M Polymorphism; no significant effect on interferon-gamma-mediated signaling pathway. 1 Publication | 1 | |
Natural variantiVAR_080075 | 397 | Y → C Functional polymorphism; associated with susceptibility to atopic dermatitis complicated by eczema herpeticum; does not affect completely interferon-gamma-mediated signaling pathway. 1 PublicationCorresponds to variant dbSNP:rs374787981Ensembl. | 1 | |
Natural variantiVAR_019283 | 467 | L → P Polymorphism; associated with susceptibility to Helicobacter pylori infection; may influence susceptibility to allergic diseases such as bronchial asthma and allergic rhinitis; could be detected on the cell surface; no significant effect on interferon-gamma-mediated signaling pathway. 4 PublicationsCorresponds to variant dbSNP:rs1887415Ensembl. | 1 | |
Natural variantiVAR_080076 | 485 | S → F in IMD27A. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_055589 | 1 – 28 | MALLF…LGPSS → MLLKSPENSLLQFQFKYG in isoform 2. 1 PublicationAdd BLAST | 28 | |
Alternative sequenceiVSP_055590 | 184 – 196 | QYKIL…EDDCD → KRSCAFSLFSFFI in isoform 2. 1 PublicationAdd BLAST | 13 | |
Alternative sequenceiVSP_055591 | 197 – 489 | Missing in isoform 2. 1 PublicationAdd BLAST | 293 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | J03143 mRNA. Translation: AAA52731.1. AY594694 Genomic DNA. Translation: AAS89302.1. BT006814 mRNA. Translation: AAP35460.1. AK294252 mRNA. Translation: BAG57548.1. AL050337 Genomic DNA. No translation available. CH471051 Genomic DNA. Translation: EAW47931.1. CH471051 Genomic DNA. Translation: EAW47932.1. BC005333 mRNA. Translation: AAH05333.1. |
CCDSi | CCDS5185.1. [P15260-1] |
PIRi | A31555. |
RefSeqi | NP_000407.1. NM_000416.2. [P15260-1] |
UniGenei | Hs.520414. |
Genome annotation databases
Ensembli | ENST00000367739; ENSP00000356713; ENSG00000027697. [P15260-1] |
GeneIDi | 3459. |
KEGGi | hsa:3459. |
UCSCi | uc003qho.3. human. [P15260-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Entry informationi
Entry namei | INGR1_HUMAN | |
Accessioni | P15260Primary (citable) accession number: P15260 Secondary accession number(s): B4DFT7, E1P587, Q53Y96 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 1, 1990 |
Last sequence update: | April 1, 1990 | |
Last modified: | March 28, 2018 | |
This is version 200 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |