P15260 (INGR1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	489 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Domain	Immunoglobulin domain Signal Transmembrane Transmembrane helix
Molecular function	Receptor
PTM	Disulfide bond Glycoprotein Phosphoprotein
Technical term	3D-structure Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	regulation of interferon-gamma-mediated signaling pathway Traceable author statement. Source: Reactome response to virus Traceable author statement PubMed 2954953. Source: ProtInc
Cellular_component	dendrite Inferred from electronic annotation. Source: Ensembl endoplasmic reticulum Inferred from electronic annotation. Source: Ensembl integral component of plasma membrane Traceable author statement Ref.1. Source: ProtInc postsynaptic density Inferred from electronic annotation. Source: Ensembl vesicle Inferred from electronic annotation. Source: Ensembl
Molecular_function	interferon-gamma receptor activity Traceable author statement Ref.1. Source: ProtInc
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
STAT1	P42224	5	EBI-1030755,EBI-1057697

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Signal peptide

1 – 17

17

Chain

18 – 489

472

Interferon gamma receptor 1

PRO_0000011009

Regions

Topological domain

18 – 245

228

Extracellular Potential

Transmembrane

246 – 266

21

Helical; Potential

Topological domain

267 – 489

223

Cytoplasmic Potential

Amino acid modifications

Modified residue

369

1

Phosphoserine By similarity

Glycosylation

34

1

N-linked (GlcNAc...) Potential

Glycosylation

79

1

N-linked (GlcNAc...) Potential

Glycosylation

86

1

N-linked (GlcNAc...) Potential

Glycosylation

179

1

N-linked (GlcNAc...) Potential

Glycosylation

240

1

N-linked (GlcNAc...) Potential

Disulfide bond

77 ↔ 85

Ref.7

Disulfide bond

122 ↔ 167

Ref.7

Disulfide bond

195 ↔ 200

Ref.7

Disulfide bond

214 ↔ 235

Ref.7

Natural variations

Natural variant

61

1

V → I. Ref.2
Corresponds to variant rs17175322 [ dbSNP | Ensembl ].

VAR_019281

Natural variant

77

1

C → Y in MSMD; fails to bind IFN-gamma. Ref.12

VAR_017577

Natural variant

87

1

I → T in MSMD; impaired response to IFN-gamma. Ref.11

VAR_017578

Natural variant

99 – 102

4

Missing in MSMD; fails to bind IFN-gamma.

VAR_017579

Natural variant

335

1

H → P. Ref.2 Ref.13
Corresponds to variant rs17175350 [ dbSNP | Ensembl ].

VAR_019282

Natural variant

467

1

L → P. Ref.2 Ref.13
Corresponds to variant rs1887415 [ dbSNP | Ensembl ].

VAR_019283

Secondary structure

1

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489

Helix Strand Turn

Details...

Beta strand

33 – 38

6

Beta strand

40 – 42

3

Beta strand

45 – 49

5

Beta strand

58 – 65

8

Beta strand

69 – 71

3

Beta strand

74 – 86

13

Helix

88 – 90

3

Beta strand

98 – 106

9

Helix

121 – 124

4

Beta strand

131 – 136

6

Beta strand

138 – 146

9

Helix

149 – 151

3

Beta strand

168 – 178

11

Beta strand

181 – 191

11

Beta strand

197 – 205

9

Beta strand

212 – 221

10

Turn

222 – 224

3

Beta strand

234 – 237

4

Sequences

	Sequence		Length	Mass (Da)
	P15260 [UniParc]. Last modified April 1, 1990. Version 1. Checksum: DCF9E574D8F47400	FASTA	489	54,405
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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

GeneReviews

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.

PIR

A31555.

RefSeq

NP_000407.1. NM_000416.2.

UniGene

Hs.520414.

3D structure databases

PDBe
RCSB PDB
PDBj

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	[»]

ProteinModelPortal

P15260.

SMR

P15260. Positions 28-241.

ModBase

Search...

MobiDB

Search...

Protein-protein interaction databases

BioGrid

109681. 8 interactions.

DIP

DIP-47N.

IntAct

P15260. 6 interactions.

MINT

MINT-8013365.

STRING

9606.ENSP00000356713.

Chemistry

ChEMBL

CHEMBL2364171.

DrugBank

DB00033. Interferon gamma-1b.

PTM databases

PhosphoSite

P15260.

UniCarbKB

P15260.

Polymorphism databases

DMDM

124474.

Proteomic databases

PaxDb

P15260.

PRIDE

P15260.

Protocols and materials databases

DNASU

3459.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000367739; ENSP00000356713; ENSG00000027697.

GeneID

3459.

KEGG

hsa:3459.

UCSC

uc003qho.2. human.

Organism-specific databases

CTD

3459.

GeneCards

GC06M137518.

HGNC

HGNC:5439. IFNGR1.

HPA

CAB004444.
HPA029213.

MIM

107470. gene.
209950. phenotype.
600263. phenotype.

neXtProt

NX_P15260.

Orphanet

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.

PharmGKB

PA29675.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG45077.

HOGENOM

HOG000113074.

HOVERGEN

HBG052128.

InParanoid

P15260.

KO

K05132.

OMA

NSYHSRN.

PhylomeDB

P15260.

TreeFam

TF338358.

Enzyme and pathway databases

Reactome

REACT_6900. Immune System.

SignaLink

P15260.

Gene expression databases

ArrayExpress

P15260.

Bgee

P15260.

CleanEx

HS_IFNGR1.

Genevestigator

P15260.

Family and domain databases

Gene3D

2.60.40.10. 2 hits.

InterPro

IPR003961. Fibronectin_type3.
IPR013783. Ig-like_fold.
IPR021126. Interferon_gamma_pox/mammal.
IPR008355. Interferon_gamma_rcpt_asu.
[Graphical view]

PANTHER

PTHR20859:SF5. PTHR20859:SF5. 1 hit.

Pfam

PF07140. IFNGR1. 1 hit.
[Graphical view]

PRINTS

PR01777. INTERFERONGR.

SUPFAM

SSF49265. SSF49265. 2 hits.

ProtoNet

Search...

Other

ChiTaRS

IFNGR1. human.

EvolutionaryTrace

P15260.

GeneWiki

Interferon_gamma_receptor_1.

GenomeRNAi

3459.

NextBio

13628.

PRO

P15260.

SOURCE

Search...

Entry information

Entry name

INGR1_HUMAN

Accession

Primary (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:	February 19, 2014
This is version 163 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.