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UniProtKB - P15260 (INGR1_HUMAN)

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Protein

Interferon gamma receptor 1

Gene

IFNGR1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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).5 Publications

GO - Molecular functioni

  • cytokine binding Source: InterPro
  • interferon-gamma receptor activity Source: ProtInc
Complete GO annotation...

GO - Biological processi

  • defense response to virus Source: Ensembl
  • 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
Complete GO annotation...

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:5439. IFNGR1.

Subcellular locationi

Topology

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

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Immunodeficiency 27A (IMD27A)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.
See also OMIM:209950
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01757777C → Y in IMD27A; fails to bind IFN-gamma. 1 PublicationCorresponds to variant dbSNP:rs104893974Ensembl.1
Natural variantiVAR_01757887I → T in IMD27A; impaired response to IFN-gamma. 1 PublicationCorresponds to variant dbSNP:rs104893973Ensembl.1
Natural variantiVAR_01757999 – 102Missing in IMD27A; fails to bind IFN-gamma. 1 Publication4
Immunodeficiency 27B (IMD27B)1 Publication
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

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.

PTM databases

iPTMnetiP15260.
PhosphoSitePlusiP15260.
SwissPalmiP15260.
UniCarbKBiP15260.

Expressioni

Gene expression databases

BgeeiENSG00000027697.
CleanExiHS_IFNGR1.
ExpressionAtlasiP15260. baseline and differential.
GenevisibleiP15260. HS.

Organism-specific databases

HPAiHPA029213.
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

WithEntry#Exp.IntActNotes
STAT1P422244EBI-1030755,EBI-1057697

GO - Molecular functioni

Complete GO annotation...

Protein-protein interaction databases

BioGridi109681. 31 interactors.
DIPiDIP-47N.
IntActiP15260. 7 interactors.
MINTiMINT-8013365.
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

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1FG9X-ray2.90C/D/E18-262[»]
1FYHX-ray2.04B/E18-246[»]
1JRHX-ray2.80I18-125[»]
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.
IPR013783. Ig-like_fold.
IPR021126. Interferon_gamma_pox/mammal.
IPR008355. Interferon_gamma_rcpt_asu.
PANTHERiPTHR20859:SF62. PTHR20859:SF62. 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_01928161V → I1 PublicationCorresponds to variant dbSNP:rs17175322Ensembl.1
Natural variantiVAR_01757777C → Y in IMD27A; fails to bind IFN-gamma. 1 PublicationCorresponds to variant dbSNP:rs104893974Ensembl.1
Natural variantiVAR_01757887I → T in IMD27A; impaired response to IFN-gamma. 1 PublicationCorresponds to variant dbSNP:rs104893973Ensembl.1
Natural variantiVAR_01757999 – 102Missing in IMD27A; fails to bind IFN-gamma. 1 Publication4
Natural variantiVAR_019282335H → P2 PublicationsCorresponds to variant dbSNP:rs17175350Ensembl.1
Natural variantiVAR_019283467L → P2 PublicationsCorresponds to variant dbSNP:rs1887415Ensembl.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. Translation: CAB53062.1.
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: August 30, 2017
This is version 195 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