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Protein

Interferon gamma receptor 1

Gene

IFNGR1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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 functionReceptor

Enzyme and pathway databases

ReactomeiR-HSA-877300 Interferon gamma signaling
R-HSA-877312 Regulation of IFNG signaling
SignaLinkiP15260
SIGNORiP15260

Names & Taxonomyi

Protein namesi
Recommended name:
Interferon gamma receptor 1Imported
Short 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000027697.12
HGNCiHGNC:5439 IFNGR1
MIMi107470 gene
neXtProtiNX_P15260

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini18 – 245ExtracellularSequence analysisAdd BLAST228
Transmembranei246 – 266HelicalSequence analysisAdd BLAST21
Topological domaini267 – 489CytoplasmicSequence analysisAdd BLAST223

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & 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:209950
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08005937I → T in IMD27A. 1 PublicationCorresponds to variant dbSNP:rs945137618Ensembl.1
Natural variantiVAR_08006061V → E in IMD27A; interferon-gamma-mediated signaling pathway completely abrogated. 2 PublicationsCorresponds to variant dbSNP:rs121912715EnsemblClinVar.1
Natural variantiVAR_08006263V → G in IMD27A; interferon-gamma-mediated signaling pathway severely reduced although not completely abrogated. 2 Publications1
Natural variantiVAR_08006366Y → C in IMD27A; could be detected on the cell surface; interferon-gamma-mediated signaling pathway completely abrogated. 2 Publications1
Natural variantiVAR_08006477C → F in IMD27A; interferon-gamma-mediated signaling pathway completely abrogated. 2 Publications1
Natural variantiVAR_01757777C → 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:rs104893974EnsemblClinVar.1
Natural variantiVAR_08006585C → Y in IMD27A; interferon-gamma-mediated signaling pathway completely abrogated. 2 Publications1
Natural variantiVAR_01757887I → T in IMD27A; interferon-gamma-mediated signaling pathway severely reduced. 3 PublicationsCorresponds to variant dbSNP:rs104893973EnsemblClinVar.1
Natural variantiVAR_01757999 – 102Missing in IMD27A; fails to bind IFN-gamma. 1 Publication4
Natural variantiVAR_080066113 – 489Missing in IMD27A. 1 PublicationAdd BLAST377
Natural variantiVAR_080070218Missing in IMD27A. 1 Publication1
Natural variantiVAR_080071219G → R in IMD27A. 1 Publication1
Natural variantiVAR_080072224 – 489Missing in IMD27A. 1 PublicationAdd BLAST266
Natural variantiVAR_080076485S → F in IMD27A. 1 PublicationCorresponds to variant dbSNP:rs752113778Ensembl.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:615978
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080073278 – 489Missing in IMD27B. 1 PublicationAdd BLAST212

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi61V → Q: Loss of function in the interferon-gamma-mediated signaling pathway. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi3459
MalaCardsiIFNGR1
MIMi209950 phenotype
600263 phenotype
615978 phenotype
OpenTargetsiENSG00000027697
Orphaneti319581 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
PharmGKBiPA29675

Chemistry databases

ChEMBLiCHEMBL2364171
DrugBankiDB00033 Interferon gamma-1b

Polymorphism and mutation databases

BioMutaiIFNGR1
DMDMi124474

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 17Add BLAST17
ChainiPRO_000001100918 – 489Interferon gamma receptor 1Add BLAST472

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi34N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi77 ↔ 851 Publication
Glycosylationi79N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi86N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi122 ↔ 1671 Publication
Glycosylationi179N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi195 ↔ 2001 Publication
Disulfide bondi214 ↔ 2351 Publication
Glycosylationi240N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei369PhosphoserineBy similarity1
Modified residuei372PhosphothreonineBy similarity1
Modified residuei378PhosphoserineBy similarity1
Modified residuei403PhosphoserineBy similarity1

Post-translational modificationi

Phosphorylated at Ser/Thr residues.2 Publications

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiP15260
MaxQBiP15260
PaxDbiP15260
PeptideAtlasiP15260
PRIDEiP15260
ProteomicsDBi53122

PTM databases

GlyConnecti294
iPTMnetiP15260
PhosphoSitePlusiP15260
SwissPalmiP15260
UniCarbKBiP15260

Expressioni

Gene expression databases

BgeeiENSG00000027697
CleanExiHS_IFNGR1
ExpressionAtlasiP15260 baseline and differential
GenevisibleiP15260 HS

Organism-specific databases

HPAiCAB025889
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

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi109681, 31 interactors
DIPiDIP-47N
IntActiP15260, 14 interactors
MINTiP15260
STRINGi9606.ENSP00000356713

Structurei

Secondary structure

1489
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi33 – 38Combined sources6
Beta strandi40 – 42Combined sources3
Beta strandi45 – 49Combined sources5
Beta strandi58 – 65Combined sources8
Beta strandi69 – 71Combined sources3
Beta strandi74 – 86Combined sources13
Helixi88 – 90Combined sources3
Beta strandi98 – 106Combined sources9
Helixi121 – 124Combined sources4
Beta strandi131 – 136Combined sources6
Beta strandi138 – 146Combined sources9
Helixi149 – 151Combined sources3
Beta strandi168 – 178Combined sources11
Beta strandi181 – 191Combined sources11
Beta strandi197 – 205Combined sources9
Beta strandi212 – 221Combined sources10
Turni222 – 224Combined sources3
Beta strandi234 – 237Combined sources4

3D structure databases

ProteinModelPortaliP15260
SMRiP15260
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP15260

Family & Domainsi

Sequence similaritiesi

Belongs to the type II cytokine receptor family.Curated

Keywords - Domaini

Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IG11 Eukaryota
ENOG411218K LUCA
GeneTreeiENSGT00510000048929
HOGENOMiHOG000113074
HOVERGENiHBG052128
InParanoidiP15260
KOiK05132
OMAiNSYHSRN
OrthoDBiEOG091G08ZD
PhylomeDBiP15260
TreeFamiTF338358

Family and domain databases

Gene3Di2.60.40.10, 2 hits
InterProiView protein in InterPro
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR013783 Ig-like_fold
IPR021126 Interferon_gamma_pox/mammal
IPR008355 Interferon_gamma_rcpt_asu
PANTHERiPTHR20859:SF5 PTHR20859:SF5, 1 hit
PfamiView protein in Pfam
PF07140 IFNGR1, 1 hit
PF01108 Tissue_fac, 1 hit
PRINTSiPR01777 INTERFERONGR
SUPFAMiSSF49265 SSF49265, 2 hits

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative 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.

« Hide

        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
Length:489
Mass (Da):54,405
Last modified:April 1, 1990 - v1
Checksum:iDCF9E574D8F47400
GO
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 »
Length:186
Mass (Da):21,542
Checksum:i13C30A3C31EF0107
GO

Polymorphismi

A genetic variation in the IFNGR1 gene is associated with susceptibility to Helicobacter pylori infection [MIMi:600263].

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08005814V → 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_08005937I → T in IMD27A. 1 PublicationCorresponds to variant dbSNP:rs945137618Ensembl.1
Natural variantiVAR_08006061V → E in IMD27A; interferon-gamma-mediated signaling pathway completely abrogated. 2 PublicationsCorresponds to variant dbSNP:rs121912715EnsemblClinVar.1
Natural variantiVAR_01928161V → 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:rs17175322EnsemblClinVar.1
Natural variantiVAR_08006263V → G in IMD27A; interferon-gamma-mediated signaling pathway severely reduced although not completely abrogated. 2 Publications1
Natural variantiVAR_08006366Y → C in IMD27A; could be detected on the cell surface; interferon-gamma-mediated signaling pathway completely abrogated. 2 Publications1
Natural variantiVAR_08006477C → F in IMD27A; interferon-gamma-mediated signaling pathway completely abrogated. 2 Publications1
Natural variantiVAR_01757777C → 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:rs104893974EnsemblClinVar.1
Natural variantiVAR_08006585C → Y in IMD27A; interferon-gamma-mediated signaling pathway completely abrogated. 2 Publications1
Natural variantiVAR_01757887I → T in IMD27A; interferon-gamma-mediated signaling pathway severely reduced. 3 PublicationsCorresponds to variant dbSNP:rs104893973EnsemblClinVar.1
Natural variantiVAR_01757999 – 102Missing in IMD27A; fails to bind IFN-gamma. 1 Publication4
Natural variantiVAR_080066113 – 489Missing in IMD27A. 1 PublicationAdd BLAST377
Natural variantiVAR_080067149S → L Polymorphism; could be detected on the cell surface; does not affect interferon-gamma-mediated signaling pathway. 1 Publication1
Natural variantiVAR_080068180G → R1 PublicationCorresponds to variant dbSNP:rs137854904EnsemblClinVar.1
Natural variantiVAR_080069197E → K1 PublicationCorresponds to variant dbSNP:rs55666220Ensembl.1
Natural variantiVAR_080070218Missing in IMD27A. 1 Publication1
Natural variantiVAR_080071219G → R in IMD27A. 1 Publication1
Natural variantiVAR_080072224 – 489Missing in IMD27A. 1 PublicationAdd BLAST266
Natural variantiVAR_080073278 – 489Missing in IMD27B. 1 PublicationAdd BLAST212
Natural variantiVAR_019282335H → P Polymorphism; associated with susceptibility to Helicobacter pylori infection; no significant effect on interferon-gamma-mediated signaling pathway. 3 PublicationsCorresponds to variant dbSNP:rs17175350EnsemblClinVar.1
Natural variantiVAR_080074352I → M Polymorphism; no significant effect on interferon-gamma-mediated signaling pathway. 1 PublicationCorresponds to variant dbSNP:rs199641966Ensembl.1
Natural variantiVAR_080075397Y → 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_019283467L → 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:rs1887415EnsemblClinVar.1
Natural variantiVAR_080076485S → F in IMD27A. 1 PublicationCorresponds to variant dbSNP:rs752113778Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0555891 – 28MALLF…LGPSS → MLLKSPENSLLQFQFKYG in isoform 2. 1 PublicationAdd BLAST28
Alternative sequenceiVSP_055590184 – 196QYKIL…EDDCD → KRSCAFSLFSFFI in isoform 2. 1 PublicationAdd BLAST13
Alternative sequenceiVSP_055591197 – 489Missing in isoform 2. 1 PublicationAdd BLAST293

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
CCDSiCCDS5185.1 [P15260-1]
PIRiA31555
RefSeqiNP_000407.1, NM_000416.2 [P15260-1]
UniGeneiHs.520414

Genome annotation databases

EnsembliENST00000367739; ENSP00000356713; ENSG00000027697 [P15260-1]
GeneIDi3459
KEGGihsa:3459
UCSCiuc003qho.3 human [P15260-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiINGR1_HUMAN
AccessioniPrimary (citable) accession number: P15260
Secondary accession number(s): B4DFT7, E1P587, Q53Y96
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: April 1, 1990
Last modified: July 18, 2018
This is version 203 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
  2. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

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