IFNGR1 interferon gamma receptor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: IFNGR1provided by HGNC
Official Full Name: interferon gamma receptor 1provided by HGNC
Primary source: HGNC:HGNC:5439
See related: Ensembl:ENSG00000027697 MIM:107470; AllianceGenome:HGNC:5439
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CD119; IFNGR; IMD27A; IMD27B
Summary: This gene (IFNGR1) encodes the ligand-binding chain (alpha) of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. A genetic variation in IFNGR1 is associated with susceptibility to Helicobacter pylori infection. In addition, defects in IFNGR1 are a cause of mendelian susceptibility to mycobacterial disease, also known as familial disseminated atypical mycobacterial infection. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in spleen (RPKM 51.4), fat (RPKM 48.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q23.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (137197484..137219385, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (138385847..138407878, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (137518621..137540522, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Single nucleotide polymorphism rs2234711 of interferon gamma receptor 1 is associated with pulmonary tuberculosis in the population of North India.
Title: Single nucleotide polymorphism rs2234711 of interferon gamma receptor 1 is associated with pulmonary tuberculosis in the population of North India.
Recombinant Klotho attenuates IFNgamma receptor signaling and SAMHD1 expression through blocking NF-kappaB translocation in glomerular mesangial cells.
Title: Recombinant Klotho attenuates IFNγ receptor signaling and SAMHD1 expression through blocking NF-κB translocation in glomerular mesangial cells.
IFNG and IFNGR1 polymorphisms are associated with tuberculosis: a case-control study.
Title: IFNG and IFNGR1 polymorphisms are associated with tuberculosis: a case-control study.
Correlation of single-nucleotide polymorphism at interferon-gamma R1 (at Position - 56) in positive purified protein derivative health workers with COVID-19 infection.
Title: Correlation of single-nucleotide polymorphism at interferon-gamma R1 (at Position - 56) in positive purified protein derivative health workers with COVID-19 infection.
Association between IFNGR1 gene polymorphisms and tuberculosis susceptibility: A meta-analysis.
Title: Association between IFNGR1 gene polymorphisms and tuberculosis susceptibility: A meta-analysis.
Genetic Variations in IFNGR1, BDNF and IL-10 May Predict the Susceptibility to Depression and Anxiety in Chinese Women With Breast Cancer.
Title: Genetic Variations in IFNGR1, BDNF and IL-10 May Predict the Susceptibility to Depression and Anxiety in Chinese Women With Breast Cancer.
Early diagnosis of partial interferon-gamma receptor 1 deficiency prevents the development of Bacille de Calmette et Guerin osteomyelitis.
Title: Early diagnosis of partial interferon-γ receptor 1 deficiency prevents the development of Bacille de Calmette et Guérin osteomyelitis.
Genetic Polymorphisms of IFNG, IFNGR1, and Androgen Receptor and Chronic Prostatitis/Chronic Pelvic Pain Syndrome in a Chinese Han Population.
Title: Genetic Polymorphisms of IFNG, IFNGR1, and Androgen Receptor and Chronic Prostatitis/Chronic Pelvic Pain Syndrome in a Chinese Han Population.
Paraspeckle Promotes Hepatocellular Carcinoma Immune Escape by Sequestering IFNGR1 mRNA.
Title: Paraspeckle Promotes Hepatocellular Carcinoma Immune Escape by Sequestering IFNGR1 mRNA.
Complete IFN-gammaR1 Deficiency in a Boy Due to UPD(6)mat with IFNGR1 Novel Splicing Variant.
Title: Complete IFN-γR1 Deficiency in a Boy Due to UPD(6)mat with IFNGR1 Novel Splicing Variant.

Submit: New GeneRIF Correction See all GeneRIFs (120)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency MedGen: C4014863 OMIM: 615978 GeneReviews: Not available	Compare labs
Helicobacter pylori infection, susceptibility to MedGen: C1838332 OMIM: 600263 GeneReviews: Not available	Compare labs
Hepatitis B virus, susceptibility to MedGen: C1864880 OMIM: 610424 GeneReviews: Not available	Compare labs
Immunodeficiency 27A MedGen: C4011949 OMIM: 209950 GeneReviews: Not available	Compare labs
Mycobacterium tuberculosis, susceptibility to MedGen: C1834752 OMIM: 607948 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	Both HIV-1 Nef and Vpu downregulate the cell surface expression of interferon gamma receptor 1 (IFNGR1, CD119)	PubMed
Vpu	vpu	Vpu-mediated modulation of IFNA (IFN-1) production by plasmacytoid dendritric cells requires the presence of BST2 on infected donor cells	PubMed
	vpu	Both HIV-1 Nef and Vpu downregulate the cell surface expression of interferon gamma receptor 1 (IFNGR1, CD119)	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH12511 (e-PCR)
- UniSTS:16155

D6S2101 (e-PCR)
- UniSTS:25388

D8S2279 (e-PCR)
- UniSTS:473907

D6S2065 (e-PCR)
- UniSTS:73859

RH15671 (e-PCR)
- UniSTS:1463

D6S1835 (e-PCR)
- UniSTS:3552

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytokine binding	IEA Inferred from Electronic Annotation more info
enables cytokine receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables type II interferon receptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in astrocyte activation	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to virus	NAS Non-traceable Author Statement more info	PubMed
involved_in cytokine-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in defense response to virus	IEA Inferred from Electronic Annotation more info
involved_in microglial cell activation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of amyloid-beta clearance	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of amyloid-beta formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of tumor necrosis factor production	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to virus	TAS Traceable Author Statement more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in type II interferon-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in type II interferon-mediated signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in type III interferon-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: interferon gamma receptor 1

Names: AVP, type 2; CD119 antigen; CDw119; IFN-gamma receptor 1; IFN-gamma-R-alpha; IFN-gamma-R1; antiviral protein, type 2; immune interferon receptor 1; interferon-gamma receptor alpha chain

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007394.1 RefSeqGene

Range

5001..26947

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GenBank, FASTA, Sequence Viewer (Graphics), LRG_66

mRNA and Protein(s)

NM_000416.3 → NP_000407.1 interferon gamma receptor 1 isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AK127636, BC005333, BU674317

Consensus CDS

CCDS5185.1

UniProtKB/Swiss-Prot

B4DFT7, E1P587, P15260, Q53Y96

UniProtKB/TrEMBL

A0A0S2Z3Y2, B2R6Q9, Q53GX8, Q9BY69

Related

ENSP00000356713.5, ENST00000367739.9

Conserved Domains (2) summary

pfam07140
Location:161 → 317

IFNGR1; Interferon gamma receptor (IFNGR1)

cl21522
Location:25 → 113

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
NM_001363526.1 → NP_001350455.1 interferon gamma receptor 1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AL050337

Consensus CDS

CCDS87446.1

UniProtKB/TrEMBL

A0A2R8Y4U4, B4DLL6, Q5TFD1

Related

ENSP00000496387.1, ENST00000646036.1

Conserved Domains (2) summary

pfam07140
Location:151 → 307

IFNGR1; Interferon gamma receptor (IFNGR1)

cl21522
Location:13 → 103

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
NM_001363527.1 → NP_001350456.1 interferon gamma receptor 1 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AL050337

Consensus CDS

CCDS87445.1

UniProtKB/TrEMBL

A0A2R8YFL3, B4DLL6

Related

ENSP00000495272.1, ENST00000644894.1

Conserved Domains (2) summary

pfam07140
Location:120 → 276

IFNGR1; Interferon gamma receptor (IFNGR1)

cl21522
Location:1 → 72

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

137197484..137219385 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011535793.3 → XP_011534095.1 interferon gamma receptor 1 isoform X1

UniProtKB/TrEMBL

A0A2R8Y4U4, B4DLL6, Q5TFD1

Related

ENSP00000394230.2, ENST00000414770.6

Conserved Domains (2) summary

pfam07140
Location:151 → 307

IFNGR1; Interferon gamma receptor (IFNGR1)

cl21522
Location:13 → 103

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
XM_006715470.4 → XP_006715533.1 interferon gamma receptor 1 isoform X1

UniProtKB/TrEMBL

A0A2R8Y4U4, B4DLL6, Q5TFD1

Related

ENSP00000494069.1, ENST00000646898.1

Conserved Domains (2) summary

pfam07140
Location:151 → 307

IFNGR1; Interferon gamma receptor (IFNGR1)

cl21522
Location:13 → 103

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
XM_011535794.2 → XP_011534096.1 interferon gamma receptor 1 isoform X1

UniProtKB/TrEMBL

A0A2R8Y4U4, B4DLL6, Q5TFD1

Conserved Domains (2) summary

pfam07140
Location:151 → 307

IFNGR1; Interferon gamma receptor (IFNGR1)

cl21522
Location:13 → 103

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
XM_047418726.1 → XP_047274682.1 interferon gamma receptor 1 isoform X1

UniProtKB/TrEMBL

A0A2R8Y4U4, Q5TFD1

Alternate T2T-CHM13v2.0

Genomic

NC_060930.1 Alternate T2T-CHM13v2.0

Range

138385847..138407878 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054355329.1 → XP_054211304.1 interferon gamma receptor 1 isoform X1

UniProtKB/TrEMBL

A0A2R8Y4U4, Q5TFD1
XM_054355326.1 → XP_054211301.1 interferon gamma receptor 1 isoform X1

UniProtKB/TrEMBL

A0A2R8Y4U4, Q5TFD1
XM_054355327.1 → XP_054211302.1 interferon gamma receptor 1 isoform X1

UniProtKB/TrEMBL

A0A2R8Y4U4, Q5TFD1
XM_054355328.1 → XP_054211303.1 interferon gamma receptor 1 isoform X1

UniProtKB/TrEMBL

A0A2R8Y4U4, Q5TFD1