IFNGR1

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

interferon-gamma receptor activity
Source: ProtInc
Traceable author statementⁱ
- 2971451
interleukin-20 binding Source: GO_Central

GO - Biological processⁱ

interferon-gamma-mediated signaling pathway Source: Reactome
regulation of interferon-gamma-mediated signaling pathway Source: Reactome
response to virus
Source: ProtInc
Traceable author statementⁱ
- 2954953
signal transduction
Source: ProtInc
Traceable author statementⁱ
- 2971451

Complete GO annotation...

Keywords - Molecular functionⁱ

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 1 Short name: IFN-gamma receptor 1 Short name: IFN-gamma-R1 Alternative name(s): CDw119 CD_antigen: CD119
Gene namesⁱ	Name:IFNGR1
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	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
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 6

Organism-specific databases

HGNCⁱ	HGNC:5439. IFNGR1.

HGNCⁱ

HGNC:5439. IFNGR1.

Subcellular locationⁱ

Cell membrane
1 Publication
Manual assertion based on experiment inⁱ
- Ref.17
  "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 IMD27A TYR-77 AND 99-TRP--VAL-102 DEL, SUBCELLULAR LOCATION.
; Single-pass type I membrane protein Sequence analysis

Topology

Feature key	Position(s)	Length	Description	Actions
Topological domainⁱ	18 – 245	228	ExtracellularSequence analysis	Add BLAST
Transmembraneⁱ	246 – 266	21	HelicalSequence analysis	Add BLAST
Topological domainⁱ	267 – 489	223	CytoplasmicSequence analysis	Add BLAST

GO - Cellular componentⁱ

integral component of plasma membrane
Source: ProtInc
Traceable author statementⁱ
- 2971451
plasma membrane Source: Reactome

Complete GO annotation...

Keywords - Cellular componentⁱ

Cell membrane, Membrane

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Immunodeficiency 27A (IMD27A)2 Publications
Manual assertion based on experiment inⁱ
Ref.16
"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 IMD27A THR-87.
Ref.17
"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 IMD27A TYR-77 AND 99-TRP--VAL-102 DEL, SUBCELLULAR LOCATION.

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.

Feature key	Position(s)	Length	Description	Feature identifier
Natural variantⁱ	77 – 77	1	C → Y in IMD27A; fails to bind IFN-gamma. 1 Publication Manual assertion based on experiment inⁱ Ref.17 "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 IMD27A TYR-77 AND 99-TRP--VAL-102 DEL, SUBCELLULAR LOCATION. Corresponds to variant rs104893974 [ dbSNP \| Ensembl ].	VAR_017577
Natural variantⁱ	87 – 87	1	I → T in IMD27A; impaired response to IFN-gamma. 1 Publication Manual assertion based on experiment inⁱ Ref.16 "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 IMD27A THR-87. Corresponds to variant rs104893973 [ dbSNP \| Ensembl ].	VAR_017578
Natural variantⁱ	99 – 102	4	Missing in IMD27A; fails to bind IFN-gamma. 1 Publication Manual assertion based on experiment inⁱ Ref.17 "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 IMD27A TYR-77 AND 99-TRP--VAL-102 DEL, SUBCELLULAR LOCATION.	VAR_017579

Immunodeficiency 27B (IMD27B)1 Publication
Manual assertion based on experiment inⁱ
Ref.11
"A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection."
Jouanguy E., Lamhamedi-Cherradi S., Lammas D., Dorman S.E., Fondaneche M.C., Dupuis S., Doeffinger R., Altare F., Girdlestone J., Emile J.F., Ducoulombier H., Edgar D., Clarke J., Oxelius V.A., Brai M., Novelli V., Heyne K., Fischer A.
Casanova J.L.
Nat. Genet. 21:370-378(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN IMD27B.

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.

Keywords - Diseaseⁱ

Disease mutation

Organism-specific databases

MalaCardsⁱ	IFNGR1.
MIMⁱ	209950. phenotype. 600263. phenotype. 615978. phenotype.
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

ChEMBLⁱ	CHEMBL2364171.
DrugBankⁱ	DB00033. Interferon gamma-1b.

Polymorphism and mutation databases

BioMutaⁱ	IFNGR1.
DMDMⁱ	124474.

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
Signal peptideⁱ	1 – 17	17				Add BLAST
Chainⁱ	18 – 489	472	Interferon gamma receptor 1		PRO_0000011009	Add BLAST

Amino acid modifications

Feature key	Position(s)	Length	Description
Glycosylationⁱ	34 – 34	1	N-linked (GlcNAc...)Sequence analysis
Disulfide bondⁱ	77 ↔ 85		1 Publication Manual assertion based on experiment inⁱ Ref.8 "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.
Glycosylationⁱ	79 – 79	1	N-linked (GlcNAc...)Sequence analysis
Glycosylationⁱ	86 – 86	1	N-linked (GlcNAc...)Sequence analysis
Disulfide bondⁱ	122 ↔ 167		1 Publication Manual assertion based on experiment inⁱ Ref.8 "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.
Glycosylationⁱ	179 – 179	1	N-linked (GlcNAc...)Sequence analysis
Disulfide bondⁱ	195 ↔ 200		1 Publication Manual assertion based on experiment inⁱ Ref.8 "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.
Disulfide bondⁱ	214 ↔ 235		1 Publication Manual assertion based on experiment inⁱ Ref.8 "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.
Glycosylationⁱ	240 – 240	1	N-linked (GlcNAc...)Sequence analysis
Modified residueⁱ	369 – 369	1	PhosphoserineBy similarity Manual assertion inferred from sequence similarity toⁱ UniProtKB:P15261 (INGR1_MOUSE)
Modified residueⁱ	372 – 372	1	PhosphothreonineBy similarity Manual assertion inferred from sequence similarity toⁱ UniProtKB:P15261 (INGR1_MOUSE)
Modified residueⁱ	378 – 378	1	PhosphoserineBy similarity Manual assertion inferred from sequence similarity toⁱ UniProtKB:P15261 (INGR1_MOUSE)
Modified residueⁱ	403 – 403	1	PhosphoserineBy similarity Manual assertion inferred from sequence similarity toⁱ UniProtKB:P15261 (INGR1_MOUSE)

Post-translational modificationⁱ

Phosphorylated at Ser/Thr residues.2 Publications

Keywords - PTMⁱ

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

EPDⁱ	P15260.
MaxQBⁱ	P15260.
PaxDbⁱ	P15260.
PeptideAtlasⁱ	P15260.
PRIDEⁱ	P15260.

PTM databases

iPTMnetⁱ	P15260.
PhosphoSiteⁱ	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	CAB004444. 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

With	Entry	#Exp.	IntAct	Notes
STAT1	P42224	4	EBI-1030755,EBI-1057697

With

Entry

#Exp.

IntAct

Notes

STAT1

P42224

4

EBI-1030755,EBI-1057697

GO - Molecular functionⁱ

interleukin-20 binding Source: GO_Central

Protein-protein interaction databases

BioGridⁱ	109681. 26 interactions.
DIPⁱ	DIP-47N.
IntActⁱ	P15260. 7 interactions.
MINTⁱ	MINT-8013365.
STRINGⁱ	9606.ENSP00000356713.

Structureⁱ

Secondary structure

1

489

Legend: HelixTurnBeta strand

Show more details

Feature key	Position(s)	Length	Description
Beta strandⁱ	33 – 38	6	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:1FYH
Beta strandⁱ	40 – 42	3	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:1FYH
Beta strandⁱ	45 – 49	5	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:1FYH
Beta strandⁱ	58 – 65	8	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:1FYH
Beta strandⁱ	69 – 71	3	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:1FYH
Beta strandⁱ	74 – 86	13	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:1FYH
Helixⁱ	88 – 90	3	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:1FYH
Beta strandⁱ	98 – 106	9	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:1FYH
Helixⁱ	121 – 124	4	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:1FYH
Beta strandⁱ	131 – 136	6	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:1FYH
Beta strandⁱ	138 – 146	9	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:1FYH
Helixⁱ	149 – 151	3	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:1FYH
Beta strandⁱ	168 – 178	11	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:1FYH
Beta strandⁱ	181 – 191	11	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:1FYH
Beta strandⁱ	197 – 205	9	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:1FYH
Beta strandⁱ	212 – 221	10	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:1FYH
Turnⁱ	222 – 224	3	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:1FYH
Beta strandⁱ	234 – 237	4	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:1FYH

3D structure databases

Select the link destinations:
PDBeⁱ
RCSB PDBⁱ
PDBjⁱ

Links Updated

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. Positions 28-241.

ModBaseⁱ

Search...

MobiDBⁱ

Search...

Miscellaneous databases

EvolutionaryTraceⁱ	P15260.

EvolutionaryTraceⁱ

P15260.

Family & Domainsⁱ

Sequence similaritiesⁱ

Belongs to the type II cytokine receptor family.Curated

Contains 2 fibronectin type-III domains.Curated

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

Keywords - Domainⁱ

Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

Phylogenomic 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	IPR003961. FN3_dom. IPR013783. Ig-like_fold. IPR021126. Interferon_gamma_pox/mammal. IPR008355. Interferon_gamma_rcpt_asu. [Graphical view]
PANTHERⁱ	PTHR20859:SF5. PTHR20859:SF5. 1 hit.
Pfamⁱ	PF07140. IFNGR1. 1 hit. PF01108. Tissue_fac. 1 hit. [Graphical view]
PRINTSⁱ	PR01777. INTERFERONGR.
SUPFAMⁱ	SSF49265. 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. Align Add to basket Added to basket

Isoform 1 (identifier: P15260-1) [UniParc]FASTA Add 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]FASTA Add 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.

« Hide

        10         20         30         40         50
MLLKSPENSL LQFQFKYGVP TPTNVTIESY NMNPIVYWEY QIMPQVPVFT 
        60         70         80         90        100
VEVKNYGVKN SEWIDACINI SHHYCNISDH VGDPSNSLWV RVKARVGQKE 
       110        120        130        140        150
SAYAKSEEFA VCRDGKIGPP KLDIRKEEKQ IMIDIFHPSV FVNGDEQEVD 
       160        170        180 
YDPETTCYIR VYNVYVRMNG SEIKRSCAFS LFSFFI

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 key	Position(s)	Length	Description	Feature identifier
Natural variantⁱ	61 – 61	1	V → I.1 Publication Manual assertion based on experiment inⁱ Ref.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. Corresponds to variant rs17175322 [ dbSNP \| Ensembl ].	VAR_019281
Natural variantⁱ	77 – 77	1	C → Y in IMD27A; fails to bind IFN-gamma. 1 Publication Manual assertion based on experiment inⁱ Ref.17 "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 IMD27A TYR-77 AND 99-TRP--VAL-102 DEL, SUBCELLULAR LOCATION. Corresponds to variant rs104893974 [ dbSNP \| Ensembl ].	VAR_017577
Natural variantⁱ	87 – 87	1	I → T in IMD27A; impaired response to IFN-gamma. 1 Publication Manual assertion based on experiment inⁱ Ref.16 "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 IMD27A THR-87. Corresponds to variant rs104893973 [ dbSNP \| Ensembl ].	VAR_017578
Natural variantⁱ	99 – 102	4	Missing in IMD27A; fails to bind IFN-gamma. 1 Publication Manual assertion based on experiment inⁱ Ref.17 "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 IMD27A TYR-77 AND 99-TRP--VAL-102 DEL, SUBCELLULAR LOCATION.	VAR_017579
Natural variantⁱ	335 – 335	1	H → P.2 Publications Manual assertion based on experiment inⁱ Ref.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. Ref.18 "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. Corresponds to variant rs17175350 [ dbSNP \| Ensembl ].	VAR_019282
Natural variantⁱ	467 – 467	1	L → P.2 Publications Manual assertion based on experiment inⁱ Ref.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. Ref.18 "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. Corresponds to variant rs1887415 [ dbSNP \| Ensembl ].	VAR_019283

Alternative sequence

Feature key	Position(s)	Length	Description	Feature identifier	Actions
Alternative sequenceⁱ	1 – 28	28	MALLF…LGPSS → MLLKSPENSLLQFQFKYG in isoform 2. 1 Publication Manual assertion based on opinion inⁱ Ref.4 "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).	VSP_055589	Add BLAST
Alternative sequenceⁱ	184 – 196	13	QYKIL…EDDCD → KRSCAFSLFSFFI in isoform 2. 1 Publication Manual assertion based on opinion inⁱ Ref.4 "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).	VSP_055590	Add BLAST
Alternative sequenceⁱ	197 – 489	293	Missing in isoform 2. 1 Publication Manual assertion based on opinion inⁱ Ref.4 "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).	VSP_055591	Add BLAST

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.
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, Polymorphism

Cross-referencesⁱ

Web resourcesⁱ

IFNGR1base

IFNGR1 mutation db

SeattleSNPs

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.
CCDSⁱ	CCDS5185.1. [P15260-1]
PIRⁱ	A31555.
RefSeqⁱ	NP_000407.1. NM_000416.2. [P15260-1]
UniGeneⁱ	Hs.520414.

3D structure databases

Select the link destinations:
PDBeⁱ
RCSB PDBⁱ
PDBjⁱ

Links Updated

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. Positions 28-241.

ModBaseⁱ

Search...

MobiDBⁱ

Search...

Protein-protein interaction databases

BioGridⁱ	109681. 26 interactions.
DIPⁱ	DIP-47N.
IntActⁱ	P15260. 7 interactions.
MINTⁱ	MINT-8013365.
STRINGⁱ	9606.ENSP00000356713.

Chemistry

ChEMBLⁱ	CHEMBL2364171.
DrugBankⁱ	DB00033. Interferon gamma-1b.

PTM databases

iPTMnetⁱ	P15260.
PhosphoSiteⁱ	P15260.
SwissPalmⁱ	P15260.
UniCarbKBⁱ	P15260.

Polymorphism and mutation databases

BioMutaⁱ	IFNGR1.
DMDMⁱ	124474.

Proteomic databases

EPDⁱ	P15260.
MaxQBⁱ	P15260.
PaxDbⁱ	P15260.
PeptideAtlasⁱ	P15260.
PRIDEⁱ	P15260.

Protocols and materials databases

DNASUⁱ	3459.
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000367739; ENSP00000356713; ENSG00000027697. [P15260-1]
GeneIDⁱ	3459.
KEGGⁱ	hsa:3459.
UCSCⁱ	uc003qho.3. human. [P15260-1]

Organism-specific databases

CTDⁱ	3459.
GeneCardsⁱ	IFNGR1.
HGNCⁱ	HGNC:5439. IFNGR1.
HPAⁱ	CAB004444. HPA029213. HPA063871.
MalaCardsⁱ	IFNGR1.
MIMⁱ	107470. gene. 209950. phenotype. 600263. phenotype. 615978. phenotype.
neXtProtⁱ	NX_P15260.
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.
GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	ENOG410IG11. Eukaryota. ENOG411218K. LUCA.
GeneTreeⁱ	ENSGT00510000048929.
HOGENOMⁱ	HOG000113074.
HOVERGENⁱ	HBG052128.
InParanoidⁱ	P15260.
KOⁱ	K05132.
OMAⁱ	NSYHSRN.
OrthoDBⁱ	EOG091G08ZD.
PhylomeDBⁱ	P15260.
TreeFamⁱ	TF338358.

Enzyme and pathway databases

Reactomeⁱ	R-HSA-877300. Interferon gamma signaling. R-HSA-877312. Regulation of IFNG signaling.
SignaLinkⁱ	P15260.
SIGNORⁱ	P15260.

Miscellaneous databases

ChiTaRSⁱ	IFNGR1. human.
EvolutionaryTraceⁱ	P15260.
GeneWikiⁱ	Interferon_gamma_receptor_1.
GenomeRNAiⁱ	3459.
PROⁱ	P15260.
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000027697.
CleanExⁱ	HS_IFNGR1.
ExpressionAtlasⁱ	P15260. baseline and differential.
Genevisibleⁱ	P15260. HS.

Family and domain databases

Gene3Dⁱ	2.60.40.10. 2 hits.
InterProⁱ	IPR003961. FN3_dom. IPR013783. Ig-like_fold. IPR021126. Interferon_gamma_pox/mammal. IPR008355. Interferon_gamma_rcpt_asu. [Graphical view]
PANTHERⁱ	PTHR20859:SF5. PTHR20859:SF5. 1 hit.
Pfamⁱ	PF07140. IFNGR1. 1 hit. PF01108. Tissue_fac. 1 hit. [Graphical view]
PRINTSⁱ	PR01777. INTERFERONGR.
SUPFAMⁱ	SSF49265. SSF49265. 2 hits.
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ

INGR1_HUMAN

Accessionⁱ

Primary (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:	September 7, 2016
This is version 189 of the entry and version 1 of the sequence. [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.

Miscellaneousⁱ

Keywords - Technical termⁱ

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

Documents

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

Similar proteinsⁱ

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:

100%	UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%	UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%	UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

UniProtKB

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UniRef

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Supporting data

UniProtKB - P15260 (INGR1_HUMAN)

UniProt

P15260 - INGR1_HUMAN

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Interferon gamma receptor 1

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<p>Provides any useful information about the protein, mostly biological knowledge.</p><p><a href='../manual/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Enzyme and pathway databases

<p>Provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.</p><p><a href='../manual/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>Provides information on the location and the topology of the mature protein in the cell.</p><p><a href='../manual/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Cellular componenti

<p>Provides information on the disease(s) and phenotype(s) associated with a protein.</p><p><a href='../manual/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

Chemistry

Polymorphism and mutation databases

<p>Describes post-translational modifications (PTMs) and/or processing events.</p><p><a href='../manual/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Proteomic databases

PTM databases

<p>Provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.</p><p><a href='../manual/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>Provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.</p><p><a href='../manual/interaction_section' target='_top'>More...</a></p>Interactioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Protein-protein interaction databases

<p>Provides information on the tertiary and secondary structure of a protein.</p><p><a href='../manual/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

Miscellaneous databases

<p>Provides information on sequence similarities with other proteins and the domain(s) present in a protein.</p><p><a href='../manual/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>Provides information about the sequence similarity with other proteins.</p><p><a href='../manual/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

Family and domain databases

<p>Displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including length and molecular weight.</p><p><a href='../manual/sequences_section' target='_top'>More...</a></p>Sequences (2)i

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

<p>Is used to point to information related to entries and found in data collections other than UniProtKB.</p><p><a href='../manual/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>Provides links to various web resources that are relevant for a specific protein.</p><p><a href='../manual/web_resource' target='_top'>More...</a></p>Web resourcesi

Sequence databases

3D structure databases

Protein-protein interaction databases

Chemistry

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>Provides general information on the entry.</p><p><a href='../manual/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>Contains any relevant information that doesn’t fit in any other defined sections</p><p><a href='../manual/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Documents

Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

GO - Cellular componentⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Sequences (2)ⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ