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

    Gene ID: 3459, updated on 13-May-2022

    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
    NEW
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    Genomic context

    See IFNGR1 in Genome Data Viewer
    Location:
    6q23.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (137197484..137219385, complement)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (138385847..138407878, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (137518621..137540522, 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 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
    enables cytokine binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables cytokine receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables interferon-gamma receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    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 IC
    Inferred by Curator
    more info
    PubMed 
    involved_in cytokine-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in defense response to virus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in interferon-gamma-mediated signaling pathway IC
    Inferred by Curator
    more info
    PubMed 
    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 
    Component Evidence Code Pubs
    is_active_in integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    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

    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)

    NEW Try the new Transcript table

    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
      ENSP00000356713.5, ENST00000367739.9
      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:13103
      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 Annotation Release 110 details...Open this link in a new tab

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      137197484..137219385 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for XP_011534095.1

      Related
      ENSP00000394230.2, ENST00000414770.6
      Conserved Domains (2) summary
      pfam07140
      Location:151307
      IFNGR1; Interferon gamma receptor (IFNGR1)
      cl21522
      Location:13103
      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_006715470.4XP_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:13103
      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_011535794.2XP_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:13103
      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 ...
    4. XM_047418726.1XP_047274682.1  interferon gamma receptor 1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      138385847..138407878 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)