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

Gene ID: 3459, updated on 10-Oct-2024

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
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Genomic context

See IFNGR1 in Genome Data Viewer
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_000006.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:137322965-137323508 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90349 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90351 Neighboring gene interleukin 20 receptor subunit alpha Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17577 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17578 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17579 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:137382319-137382457 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25128 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:137410449-137410629 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25129 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25130 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25131 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90355 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25133 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90359 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90362 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:137492881-137493639 Neighboring gene interleukin 22 receptor subunit alpha 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90370 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:137500946-137502145 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90375 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25135 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17580 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:137540162-137540892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25137 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25139 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:137618853-137619479 Neighboring gene uncharacterized LOC105378017 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:137636227-137636827 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:137672426-137672621 Neighboring gene FOXA motif-containing MPRA enhancer 183 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90385 Neighboring gene uncharacterized LOC102723633 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:137744471-137745316 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25140

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

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
 
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 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

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

  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
    B4DFT7, E1P587, P15260, Q53Y96
    UniProtKB/TrEMBL
    A0A0S2Z3Y2, B2R6Q9, Q53GX8, Q9BY69
    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
    UniProtKB/TrEMBL
    A0A2R8Y4U4, B4DLL6, Q5TFD1
    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
    UniProtKB/TrEMBL
    A0A2R8YFL3, B4DLL6
    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: 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

  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

    UniProtKB/TrEMBL
    A0A2R8Y4U4, B4DLL6, Q5TFD1
    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

    UniProtKB/TrEMBL
    A0A2R8Y4U4, B4DLL6, Q5TFD1
    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

    UniProtKB/TrEMBL
    A0A2R8Y4U4, B4DLL6, Q5TFD1
    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

    UniProtKB/TrEMBL
    A0A2R8Y4U4, Q5TFD1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

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

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    A0A2R8Y4U4, Q5TFD1
  2. XM_054355326.1XP_054211301.1  interferon gamma receptor 1 isoform X1

    UniProtKB/TrEMBL
    A0A2R8Y4U4, Q5TFD1
  3. XM_054355327.1XP_054211302.1  interferon gamma receptor 1 isoform X1

    UniProtKB/TrEMBL
    A0A2R8Y4U4, Q5TFD1
  4. XM_054355328.1XP_054211303.1  interferon gamma receptor 1 isoform X1

    UniProtKB/TrEMBL
    A0A2R8Y4U4, Q5TFD1