• Gene id: 3459

Gene Summary

• Gene Symbol: IFNGR1   Gene   UCSC   Ensembl
• Aliases: CD119, IFNGR, IMD27A, IMD27B
• Gene name: interferon gamma receptor 1
• Alternate names: interferon gamma receptor 1, 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,
• Gene location: 6q23.3 (137220350: 137197483)     Exons: 9     NC_000006.12
• Gene summary(Entrez): 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 inf
• OMIM: 107470

Protein Summary

• Protein general information: P15260  
  • Name: Interferon gamma receptor 1 (IFN gamma receptor 1) (IFN gamma R1) (CDw119) (Interferon gamma receptor alpha chain) (IFN gamma R alpha) (CD antigen CD119)
  • Length: 489  
  • Mass: 54405
• Sequence:

  MALLFLLPLVMQGVSRAEMGTADLGPSSVPTPTNVTIESYNMNPIVYWEYQIMPQVPVFTVEVKNYGVKNSEWID
  ACINISHHYCNISDHVGDPSNSLWVRVKARVGQKESAYAKSEEFAVCRDGKIGPPKLDIRKEEKQIMIDIFHPSV
  FVNGDEQEVDYDPETTCYIRVYNVYVRMNGSEIQYKILTQKEDDCDEIQCQLAIPVSSLNSQYCVSAEGVLHVWG
  VTTEKSKEVCITIFNSSIKGSLWIPVVAALLLFLVLSLVFICFYIKKINPLKEKSIILPKSLISVVRSATLETKP
  ESKYVSLITSYQPFSLEKEVVCEEPLSPATVPGMHTEDNPGKVEHTEELSSITEVVTTEENIPDVVPGSHLTPIE
  RESSSPLSSNQSEPGSIALNSYHSRNCSESDHSRNGFDTDSSCLESHSSLSDSEFPPNNKGEIKTEGQELITVIK
  APTSFGYDKPHVLVDLLVDDSGKESLIGYRPTEDSKEFS

• Structural information:
  • Interpro: IPR003961  IPR036116  IPR013783  IPR021126  IPR008355  
  • PDB: 1FG9 1FYH 1JRH 6E3K 6E3L
  • PDBsum: 1FG9 1FYH 1JRH 6E3K 6E3L
  • DIP: 47
  • STRING: ENSP00000356713
• Other Databases: GeneCards:  IFNGR1  Malacards:  IFNGR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1904469	positive regulation of tumor necrosis factor secretion	ISS	biological process
GO:1902004	positive regulation of amyloid-beta formation	ISS	biological process
GO:1902004	positive regulation of amyloid-beta formation	ISS	biological process
GO:1900222	negative regulation of amyloid-beta clearance	ISS	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0048143	astrocyte activation	ISS	biological process
GO:0001774	microglial cell activation	ISS	biological process
GO:0019221	cytokine-mediated signaling pathway	IBA	biological process
GO:0004896	cytokine receptor activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0016021	integral component of membrane	IBA	cellular component
GO:0019955	cytokine binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0004906	interferon-gamma receptor activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0009615	response to virus	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0060333	interferon-gamma-mediated signaling pathway	TAS	biological process
GO:0060334	regulation of interferon-gamma-mediated signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05168	Herpes simplex virus 1 infection
hsa04060	Cytokine-cytokine receptor interaction
hsa05167	Kaposi sarcoma-associated herpesvirus infection
hsa05152	Tuberculosis
hsa04217	Necroptosis
hsa04630	JAK-STAT signaling pathway
hsa05164	Influenza A
hsa04380	Osteoclast differentiation
hsa04650	Natural killer cell mediated cytotoxicity
hsa04659	Th17 cell differentiation
hsa04066	HIF-1 signaling pathway
hsa05145	Toxoplasmosis
hsa05235	PD-L1 expression and PD-1 checkpoint pathway in cancer
hsa05142	Chagas disease
hsa04658	Th1 and Th2 cell differentiation
hsa05140	Leishmaniasis
hsa05321	Inflammatory bowel disease

Diseases

Associated diseases	References
Arteriosclerosis	PMID:20655098
Asthma	PMID:12851715
Primary immunodeficiency disease	PMID:8960473
Pulmonary hypertension	PMID:20808962
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)