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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<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><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • cytokine binding Source: InterPro
  • cytokine receptor activity Source: GO_Central
  • interferon-gamma receptor activity Source: ProtInc

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionReceptor

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-877300 Interferon gamma signaling
R-HSA-877312 Regulation of IFNG signaling

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
P15260

SIGNOR Signaling Network Open Resource

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SIGNORi
P15260

<p>This section 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><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:IFNGR1Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000027697.12

Human Gene Nomenclature Database

More...
HGNCi
HGNC:5439 IFNGR1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
107470 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P15260

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini18 – 245ExtracellularSequence analysisAdd BLAST228
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei246 – 266HelicalSequence analysisAdd BLAST21
Topological domaini267 – 489CytoplasmicSequence analysisAdd BLAST223

Keywords - Cellular componenti

Cell membrane, Membrane

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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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 PublicationCorresponds to variant dbSNP:rs1311661488Ensembl.1
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
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi61V → Q: Loss of function in the interferon-gamma-mediated signaling pathway. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
3459

MalaCards human disease database

More...
MalaCardsi
IFNGR1
MIMi209950 phenotype
600263 phenotype
615978 phenotype

Open Targets

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OpenTargetsi
ENSG00000027697

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
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

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA29675

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL2364171

Drug and drug target database

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DrugBanki
DB00033 Interferon gamma-1b

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
IFNGR1

Domain mapping of disease mutations (DMDM)

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DMDMi
124474

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

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 17Add BLAST17
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001100918 – 489Interferon gamma receptor 1Add BLAST472

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi34N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>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
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei369PhosphoserineBy similarity1
Modified residuei372PhosphothreonineBy similarity1
Modified residuei378PhosphoserineBy similarity1
Modified residuei403PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated at Ser/Thr residues.2 Publications

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P15260

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P15260

MaxQB - The MaxQuant DataBase

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MaxQBi
P15260

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P15260

PeptideAtlas

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PeptideAtlasi
P15260

PRoteomics IDEntifications database

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PRIDEi
P15260

ProteomicsDB human proteome resource

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ProteomicsDBi
53122

PTM databases

GlyConnect protein glycosylation platform

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GlyConnecti
294

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P15260

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P15260

SwissPalm database of S-palmitoylation events

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SwissPalmi
P15260

UniCarbKB; an annotated and curated database of glycan structures

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UniCarbKBi
P15260

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000027697 Expressed in 241 organ(s), highest expression level in upper lobe of lung

CleanEx database of gene expression profiles

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CleanExi
HS_IFNGR1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P15260 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P15260 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB025889
HPA063871

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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer (PubMed:9367779). Heterodimer with IFNGR2, to form the IFNG receptor complex (PubMed:7615558). Interacts with JAK1 (PubMed:7615558).2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
109681, 31 interactors

Database of interacting proteins

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DIPi
DIP-47N

Protein interaction database and analysis system

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IntActi
P15260, 14 interactors

Molecular INTeraction database

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MINTi
P15260

STRING: functional protein association networks

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STRINGi
9606.ENSP00000356713

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1489
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1FG9X-ray2.90C/D/E18-262[»]
1FYHX-ray2.04B/E18-246[»]
1JRHX-ray2.80I18-125[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P15260

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P15260

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
P15260

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

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the type II cytokine receptor family.Curated

Keywords - Domaini

Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IG11 Eukaryota
ENOG411218K LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00510000048929

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000113074

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG052128

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P15260

KEGG Orthology (KO)

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KOi
K05132

Identification of Orthologs from Complete Genome Data

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OMAi
NSYHSRN

Database of Orthologous Groups

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OrthoDBi
745416at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P15260

TreeFam database of animal gene trees

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TreeFami
TF338358

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.40.10, 2 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR013783 Ig-like_fold
IPR021126 Interferon_gamma_pox/mammal
IPR008355 Interferon_gamma_rcpt_asu

The PANTHER Classification System

More...
PANTHERi
PTHR20859:SF5 PTHR20859:SF5, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF07140 IFNGR1, 1 hit
PF01108 Tissue_fac, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR01777 INTERFERONGR

Superfamily database of structural and functional annotation

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SUPFAMi
SSF49265 SSF49265, 2 hits

<p>This section 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 <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5TFC9Q5TFC9_HUMAN
Interferon gamma receptor 1
IFNGR1
210Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YFL3A0A2R8YFL3_HUMAN
Interferon gamma receptor 1
IFNGR1
448Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y4U4A0A2R8Y4U4_HUMAN
Interferon gamma receptor 1
IFNGR1
479Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y7R1A0A2R8Y7R1_HUMAN
Interferon gamma receptor 1
IFNGR1
470Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5TFD1Q5TFD1_HUMAN
Interferon gamma receptor 1
IFNGR1
161Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YEN6A0A2R8YEN6_HUMAN
Interferon gamma receptor 1
IFNGR1
27Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y792A0A2R8Y792_HUMAN
Interferon gamma receptor 1
IFNGR1
30Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>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 PublicationCorresponds to variant dbSNP:rs387906572Ensembl.1
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 PublicationCorresponds to variant dbSNP:rs1311661488Ensembl.1
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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS5185.1 [P15260-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
A31555

NCBI Reference Sequences

More...
RefSeqi
NP_000407.1, NM_000416.2 [P15260-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.520414

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000367739; ENSP00000356713; ENSG00000027697 [P15260-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
3459

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:3459

UCSC genome browser

More...
UCSCi
uc003qho.3 human [P15260-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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 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

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...

Protein-protein interaction databases

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

Chemistry databases

ChEMBLiCHEMBL2364171
DrugBankiDB00033 Interferon gamma-1b

PTM databases

GlyConnecti294
iPTMnetiP15260
PhosphoSitePlusiP15260
SwissPalmiP15260
UniCarbKBiP15260

Polymorphism and mutation databases

BioMutaiIFNGR1
DMDMi124474

Proteomic databases

EPDiP15260
jPOSTiP15260
MaxQBiP15260
PaxDbiP15260
PeptideAtlasiP15260
PRIDEiP15260
ProteomicsDBi53122

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
3459
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
3459
DisGeNETi3459
EuPathDBiHostDB:ENSG00000027697.12

GeneCards: human genes, protein and diseases

More...
GeneCardsi
IFNGR1
HGNCiHGNC:5439 IFNGR1
HPAiCAB025889
HPA063871
MalaCardsiIFNGR1
MIMi107470 gene
209950 phenotype
600263 phenotype
615978 phenotype
neXtProtiNX_P15260
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

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IG11 Eukaryota
ENOG411218K LUCA
GeneTreeiENSGT00510000048929
HOGENOMiHOG000113074
HOVERGENiHBG052128
InParanoidiP15260
KOiK05132
OMAiNSYHSRN
OrthoDBi745416at2759
PhylomeDBiP15260
TreeFamiTF338358

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
IFNGR1 human
EvolutionaryTraceiP15260

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Interferon_gamma_receptor_1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
3459

Protein Ontology

More...
PROi
PR:P15260

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000027697 Expressed in 241 organ(s), highest expression level in upper lobe of lung
CleanExiHS_IFNGR1
ExpressionAtlasiP15260 baseline and differential
GenevisibleiP15260 HS

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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiINGR1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P15260
Secondary accession number(s): B4DFT7, E1P587, Q53Y96
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: April 1, 1990
Last modified: January 16, 2019
This is version 207 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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