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

Gene ID: 3459, updated on 20-Apr-2020

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
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

Genomic context

See IFNGR1 in Genome Data Viewer
Location:
6q23.3
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (137197484..137220351, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (137518621..137540981, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene interleukin 20 receptor subunit alpha Neighboring gene interleukin 22 receptor subunit alpha 2 Neighboring gene uncharacterized LOC105378017 Neighboring gene uncharacterized LOC107986544 Neighboring gene FOXA motif-containing MPRA enhancer 183

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ45734

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytokine binding IEA
Inferred from Electronic Annotation
more info
 
cytokine receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
interferon-gamma receptor activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
astrocyte activation ISS
Inferred from Sequence or Structural Similarity
more info
 
cytokine-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
interferon-gamma-mediated signaling pathway TAS
Traceable Author Statement
more info
 
microglial cell activation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of amyloid-beta clearance ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of amyloid-beta formation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of tumor necrosis factor secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of interferon-gamma-mediated signaling pathway TAS
Traceable Author Statement
more info
 
response to virus TAS
Traceable Author Statement
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

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)

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

  1. NG_007394.1 RefSeqGene

    Range
    5001..26947
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_66

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_000407.1

    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
    P15260
    UniProtKB/TrEMBL
    A0A0S2Z3Y2
    Related
    ENSP00000356713.4, ENST00000367739.8
    Conserved Domains (2) summary
    pfam07140
    Location:161317
    IFNGR1; Interferon gamma receptor (IFNGR1)
    cl21522
    Location:25113
    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 ...
  2. NM_001363526.1NP_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
    Related
    ENSP00000496387.1, ENST00000646036.1
    Conserved Domains (2) summary
    pfam07140
    Location:151307
    IFNGR1; Interferon gamma receptor (IFNGR1)
    cl21522
    Location:14103
    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 ...
  3. NM_001363527.1NP_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
    Related
    ENSP00000495272.1, ENST00000644894.1
    Conserved Domains (2) summary
    pfam07140
    Location:120276
    IFNGR1; Interferon gamma receptor (IFNGR1)
    cl21522
    Location:172
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    137197484..137220351 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011535793.2XP_011534095.1  interferon gamma receptor 1 isoform X1

    See identical proteins and their annotated locations for XP_011534095.1

    Conserved Domains (2) summary
    pfam07140
    Location:151307
    IFNGR1; Interferon gamma receptor (IFNGR1)
    cl21522
    Location:14103
    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 ...
  2. XM_006715470.3XP_006715533.1  interferon gamma receptor 1 isoform X1

    See identical proteins and their annotated locations for XP_006715533.1

    Related
    ENSP00000494069.1, ENST00000646898.1
    Conserved Domains (2) summary
    pfam07140
    Location:151307
    IFNGR1; Interferon gamma receptor (IFNGR1)
    cl21522
    Location:14103
    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 ...
  3. XM_011535794.1XP_011534096.1  interferon gamma receptor 1 isoform X1

    See identical proteins and their annotated locations for XP_011534096.1

    Conserved Domains (2) summary
    pfam07140
    Location:151307
    IFNGR1; Interferon gamma receptor (IFNGR1)
    cl21522
    Location:14103
    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 ...
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