• Gene id: 3454

Gene Summary

• Gene Symbol: IFNAR1   Gene   UCSC   Ensembl
• Aliases: AVP, IFN-alpha-REC, IFNAR, IFNBR, IFRC
• Gene name: interferon alpha and beta receptor subunit 1
• Alternate names: interferon alpha/beta receptor 1, CRF2-1, IFN-R-1, IFN-alpha/beta receptor 1, alpha-type antiviral protein, beta-type antiviral protein, cytokine receptor class-II member 1, cytokine receptor family 2 member 1, interferon (alpha, beta and omega) receptor 1, interf,
• Gene location: 21q22.11 (33324442: 33360360)     Exons: 13     NC_000021.9
• Gene summary(Entrez): The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several prote
• OMIM: 107450

Protein Summary

• Protein general information: P17181  
  • Name: Interferon alpha/beta receptor 1 (IFN R 1) (IFN alpha/beta receptor 1) (Cytokine receptor class II member 1) (Cytokine receptor family 2 member 1) (CRF2 1) (Type I interferon receptor 1)
  • Length: 557  
  • Mass: 63525
  • Tissue specificity: IFN receptors are present in all tissues and even on the surface of most IFN-resistant cells. Isoform 1, isoform 2 and isoform 3 are expressed in the IFN-alpha sensitive myeloma cell line U266B1. Isoform 2 and isoform 3 are expressed i
• Sequence:

  MMVVLLGATTLVLVAVAPWVLSAAAGGKNLKSPQKVEVDIIDDNFILRWNRSDESVGNVTFSFDYQKTGMDNWIK
  LSGCQNITSTKCNFSSLKLNVYEEIKLRIRAEKENTSSWYEVDSFTPFRKAQIGPPEVHLEAEDKAIVIHISPGT
  KDSVMWALDGLSFTYSLVIWKNSSGVEERIENIYSRHKIYKLSPETTYCLKVKAALLTSWKIGVYSPVHCIKTTV
  ENELPPPENIEVSVQNQNYVLKWDYTYANMTFQVQWLHAFLKRNPGNHLYKWKQIPDCENVKTTQCVFPQNVFQK
  GIYLLRVQASDGNNTSFWSEEIKFDTEIQAFLLPPVFNIRSLSDSFHIYIGAPKQSGNTPVIQDYPLIYEIIFWE
  NTSNAERKIIEKKTDVTVPNLKPLTVYCVKARAHTMDEKLNKSSVFSDAVCEKTKPGNTSKIWLIVGICIALFAL
  PFVIYAAKVFLRCINYVFFPSLKPSSSIDEYFSEQPLKNLLLSTSEEQIEKCFIIENISTIATVEETNQTDEDHK
  KYSSQTSQDSGNYSNEDESESKTSEELQQDFV

• Structural information:
  • Protein Domains: (32..12-)
    1 (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316-)
    (127..22-)
    2 (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316-)
    (231..32-)
    3 (/note="Fibronectin-type-III)
    (/ev-)
  • Interpro: IPR003961  IPR036116  IPR013783  IPR015373  IPR016669  
  • Prosite: PS50853
  • PDB: 3S98 3SE3 3SE4 4PO6
  • PDBsum: 3S98 3SE3 3SE4 4PO6
  • DIP: 57
  • STRING: ENSP00000270139
• Other Databases: GeneCards:  IFNAR1  Malacards:  IFNAR1

Gene ontology

GO accession	Term name	Evidence code	Go category
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:0060337	type I interferon signaling pathway	IDA	biological process
GO:0004905	type I interferon receptor activity	IDA	molecular function
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0019962	type I interferon binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0035457	cellular response to interferon-alpha	ISS	biological process
GO:0032496	response to lipopolysaccharide	ISS	biological process
GO:0004904	interferon receptor activity	IEA	molecular function
GO:0019221	cytokine-mediated signaling pathway	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0009615	response to virus	TAS	biological process
GO:0007259	receptor signaling pathway via JAK-STAT	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:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0060337	type I interferon 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:0005764	lysosome	IEA	cellular component
GO:0005770	late endosome	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05168	Herpes simplex virus 1 infection
hsa04151	PI3K-Akt signaling pathway
hsa05165	Human papillomavirus infection
hsa04060	Cytokine-cytokine receptor interaction
hsa05169	Epstein-Barr virus infection
hsa05167	Kaposi sarcoma-associated herpesvirus infection
hsa04621	NOD-like receptor signaling pathway
hsa04217	Necroptosis
hsa04630	JAK-STAT signaling pathway
hsa05164	Influenza A
hsa05161	Hepatitis B
hsa04380	Osteoclast differentiation
hsa05160	Hepatitis C
hsa05162	Measles
hsa04650	Natural killer cell mediated cytotoxicity
hsa04620	Toll-like receptor signaling pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881