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P15260 (INGR1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 168. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Interferon gamma receptor 1

Short name=IFN-gamma receptor 1
Short name=IFN-gamma-R1
Alternative name(s):
CDw119
CD_antigen=CD119
Gene names
Name:IFNGR1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length489 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Receptor for interferon gamma. Two receptors bind one interferon gamma dimer.

Subunit structure

Monomer.

Subcellular location

Membrane; Single-pass type I membrane protein.

Post-translational modification

Phosphorylated at Ser/Thr residues.

Polymorphism

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

Involvement in disease

Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]: This rare condition confers predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine and 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. The pathogenic mechanism underlying MSMD is the impairment of interferon-gamma mediated immunity, whose severity determines the clinical outcome. 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. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11 Ref.12

Sequence similarities

Belongs to the type II cytokine receptor family.

Contains 2 fibronectin type-III domains.

Contains 2 Ig-like C2-type (immunoglobulin-like) domains.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

STAT1P422245EBI-1030755,EBI-1057697

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1717
Chain18 – 489472Interferon gamma receptor 1
PRO_0000011009

Regions

Topological domain18 – 245228Extracellular Potential
Transmembrane246 – 26621Helical; Potential
Topological domain267 – 489223Cytoplasmic Potential

Amino acid modifications

Modified residue3691Phosphoserine By similarity
Glycosylation341N-linked (GlcNAc...) Potential
Glycosylation791N-linked (GlcNAc...) Potential
Glycosylation861N-linked (GlcNAc...) Potential
Glycosylation1791N-linked (GlcNAc...) Potential
Glycosylation2401N-linked (GlcNAc...) Potential
Disulfide bond77 ↔ 85 Ref.7
Disulfide bond122 ↔ 167 Ref.7
Disulfide bond195 ↔ 200 Ref.7
Disulfide bond214 ↔ 235 Ref.7

Natural variations

Natural variant611V → I. Ref.2
Corresponds to variant rs17175322 [ dbSNP | Ensembl ].
VAR_019281
Natural variant771C → Y in MSMD; fails to bind IFN-gamma. Ref.12
VAR_017577
Natural variant871I → T in MSMD; impaired response to IFN-gamma. Ref.11
VAR_017578
Natural variant99 – 1024Missing in MSMD; fails to bind IFN-gamma.
VAR_017579
Natural variant3351H → P. Ref.2 Ref.13
Corresponds to variant rs17175350 [ dbSNP | Ensembl ].
VAR_019282
Natural variant4671L → P. Ref.2 Ref.13
Corresponds to variant rs1887415 [ dbSNP | Ensembl ].
VAR_019283

Secondary structure

.................................... 489
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
P15260 [UniParc].

Last modified April 1, 1990. Version 1.
Checksum: DCF9E574D8F47400

FASTA48954,405
        10         20         30         40         50         60 
MALLFLLPLV MQGVSRAEMG TADLGPSSVP TPTNVTIESY NMNPIVYWEY QIMPQVPVFT 

        70         80         90        100        110        120 
VEVKNYGVKN SEWIDACINI SHHYCNISDH VGDPSNSLWV RVKARVGQKE SAYAKSEEFA 

       130        140        150        160        170        180 
VCRDGKIGPP KLDIRKEEKQ IMIDIFHPSV FVNGDEQEVD YDPETTCYIR VYNVYVRMNG 

       190        200        210        220        230        240 
SEIQYKILTQ KEDDCDEIQC QLAIPVSSLN SQYCVSAEGV LHVWGVTTEK SKEVCITIFN 

       250        260        270        280        290        300 
SSIKGSLWIP VVAALLLFLV LSLVFICFYI KKINPLKEKS IILPKSLISV VRSATLETKP 

       310        320        330        340        350        360 
ESKYVSLITS YQPFSLEKEV VCEEPLSPAT VPGMHTEDNP GKVEHTEELS SITEVVTTEE 

       370        380        390        400        410        420 
NIPDVVPGSH LTPIERESSS PLSSNQSEPG SIALNSYHSR NCSESDHSRN GFDTDSSCLE 

       430        440        450        460        470        480 
SHSSLSDSEF PPNNKGEIKT EGQELITVIK APTSFGYDKP HVLVDLLVDD SGKESLIGYR 


PTEDSKEFS 

« Hide

References

« Hide 'large scale' references
[1]"Molecular cloning and expression of the human interferon-gamma receptor."
Aguet M., Dembic Z., Merlin G.
Cell 55:273-280(1988) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]SeattleSNPs variation discovery resource
Submitted (APR-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ILE-61; PRO-335 AND PRO-467.
[3]"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[4]"The DNA sequence and analysis of human chromosome 6."
Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Prostate.
[7]"Alignment of disulfide bonds of the extracellular domain of the interferon gamma receptor and investigation of their role in biological activity."
Stueber D., Friedlein A., Fountoulakis M., Lahm H.-W., Garotta G.
Biochemistry 32:2423-2430(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: DISULFIDE BONDS, PARTIAL PROTEIN SEQUENCE, MUTAGENESIS.
[8]"Crystal structure of a complex between interferon-gamma and its soluble high-affinity receptor."
Walter M.R., Windsor W.T., Nagabhushan T.L., Lundell D.J., Lunn C.A., Zauodny P.J., Narula S.K.
Nature 376:230-235(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.9 ANGSTROMS) OF 26-248.
[9]"Neutralizing epitopes on the extracellular interferon gamma receptor (IFNgammaR) alpha-chain characterized by homolog scanning mutagenesis and X-ray crystal structure of the A6 fab-IFNgammaR1-108 complex."
Sogabe S., Stuart F., Henke C., Bridges A., Williams G., Birch A., Winkler F.K., Robinson J.A.
J. Mol. Biol. 273:882-897(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.8 ANGSTROMS) OF 28-122 IN COMPLEX WITH ANTIBODY.
[10]"Observation of an unexpected third receptor molecule in the crystal structure of human interferon-gamma receptor complex."
Thiel D.J., le Du M.-H., Walter R.L., D'Arcy A., Chene C., Fountoulakis M., Garotta G., Winkler F.K., Ealick S.E.
Structure 8:927-936(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.9 ANGSTROMS) OF COMPLEX WITH ING.
[11]"Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guerin infection and a sibling with clinical tuberculosis."
Jouanguy E., Lamhamedi-Cherradi S.-E., Altare F., Fondaneche M.-C., Tuerlinckx D., Blanche S., Emile J.-F., Gaillard J.-L., Schreiber R., Levin M., Fischer A., Hivroz C., Casanova J.-L.
J. Clin. Invest. 100:2658-2664(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MSMD THR-87.
[12]"In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma."
Jouanguy E., Dupuis S., Pallier A., Doffinger R., Fondaneche M.-C., Fieschi C., Lamhamedi-Cherradi S., Altare F., Emile J.-F., Lutz P., Bordigoni P., Cokugras H., Akcakaya N., Landman-Parker J., Donnadieu J., Camcioglu Y., Casanova J.-L.
J. Clin. Invest. 105:1429-1436(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MSMD TYR-77 AND 99-TRP--VAL-102 DEL.
[13]"Genomewide linkage analysis identifies polymorphism in the human interferon-gamma receptor affecting Helicobacter pylori infection."
Thye T., Burchard G.D., Nilius M., Mueller-Myhsok B., Horstmann R.D.
Am. J. Hum. Genet. 72:448-453(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO HELICOBACTER PYLORI INFECTION, VARIANTS PRO-335 AND PRO-467.
+Additional computationally mapped references.

Web resources

IFNGR1base

IFNGR1 mutation db

SeattleSNPs

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
J03143 mRNA. Translation: AAA52731.1.
AY594694 Genomic DNA. Translation: AAS89302.1.
BT006814 mRNA. Translation: AAP35460.1.
AL050337 Genomic DNA. Translation: CAB53062.1.
CH471051 Genomic DNA. Translation: EAW47931.1.
CH471051 Genomic DNA. Translation: EAW47932.1.
BC005333 mRNA. Translation: AAH05333.1.
CCDSCCDS5185.1.
PIRA31555.
RefSeqNP_000407.1. NM_000416.2.
UniGeneHs.520414.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1FG9X-ray2.90C/D/E18-262[»]
1FYHX-ray2.04B/E18-246[»]
1JRHX-ray2.80I18-125[»]
ProteinModelPortalP15260.
SMRP15260. Positions 28-241.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109681. 8 interactions.
DIPDIP-47N.
IntActP15260. 6 interactions.
MINTMINT-8013365.
STRING9606.ENSP00000356713.

Chemistry

ChEMBLCHEMBL2364171.
DrugBankDB00033. Interferon gamma-1b.

PTM databases

PhosphoSiteP15260.
UniCarbKBP15260.

Polymorphism databases

DMDM124474.

Proteomic databases

MaxQBP15260.
PaxDbP15260.
PRIDEP15260.

Protocols and materials databases

DNASU3459.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000367739; ENSP00000356713; ENSG00000027697.
GeneID3459.
KEGGhsa:3459.
UCSCuc003qho.2. human.

Organism-specific databases

CTD3459.
GeneCardsGC06M137518.
HGNCHGNC:5439. IFNGR1.
HPACAB004444.
HPA029213.
MIM107470. gene.
209950. phenotype.
600263. phenotype.
neXtProtNX_P15260.
Orphanet319581. 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.
PharmGKBPA29675.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG45077.
HOGENOMHOG000113074.
HOVERGENHBG052128.
InParanoidP15260.
KOK05132.
OMANSYHSRN.
PhylomeDBP15260.
TreeFamTF338358.

Enzyme and pathway databases

ReactomeREACT_6900. Immune System.
SignaLinkP15260.

Gene expression databases

ArrayExpressP15260.
BgeeP15260.
CleanExHS_IFNGR1.
GenevestigatorP15260.

Family and domain databases

Gene3D2.60.40.10. 2 hits.
InterProIPR003961. Fibronectin_type3.
IPR013783. Ig-like_fold.
IPR021126. Interferon_gamma_pox/mammal.
IPR008355. Interferon_gamma_rcpt_asu.
[Graphical view]
PANTHERPTHR20859:SF5. PTHR20859:SF5. 1 hit.
PfamPF07140. IFNGR1. 1 hit.
PF01108. Tissue_fac. 1 hit.
[Graphical view]
PRINTSPR01777. INTERFERONGR.
SUPFAMSSF49265. SSF49265. 2 hits.
ProtoNetSearch...

Other

ChiTaRSIFNGR1. human.
EvolutionaryTraceP15260.
GeneWikiInterferon_gamma_receptor_1.
GenomeRNAi3459.
NextBio13628.
PROP15260.
SOURCESearch...

Entry information

Entry nameINGR1_HUMAN
AccessionPrimary (citable) accession number: P15260
Secondary accession number(s): E1P587, Q53Y96
Entry history
Integrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: April 1, 1990
Last modified: July 9, 2014
This is version 168 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM

Human cell differentiation molecules

CD nomenclature of surface proteins of human leucocytes and list of entries