InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: IRF8

Summary

InnateDB Protein

IDBP-45280.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

IRF8

Protein Name

interferon regulatory factor 8

Synonyms

H-ICSBP; ICSBP; ICSBP1; IMD32A; IMD32B; IRF-8;

Species

Homo sapiens

Ensembl Protein

ENSP00000268638

InnateDB Gene

IDBG-45278 (IRF8)

Protein Structure

UniProt Annotation

Function

Specifically binds to the upstream regulatory region of type I IFN and IFN-inducible MHC class I genes (the interferon consensus sequence (ICS)). Plays a negative regulatory role in cells of the immune system. Involved in CD8(+) dendritic cell differentiation by forming a complex with the BATF-JUNB heterodimer in immune cells, leading to recognition of AICE sequence (5'-TGAnTCA/GAAA-3'), an immune-specific regulatory element, followed by cooperative binding of BATF and IRF8 and activation of genes (By similarity). {ECO:0000250}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:23166356}.

Disease Associations

IRF8 deficiency, autosomal dominant (IRF8DD) [MIM:614893]: An immunologic disorder characterized by abnormal peripheral blood myeloid phenotype with a marked loss of CD11C- positive/CD1C dendritic cells, resulting in selective susceptibility to mycobacterial infections. {ECO:0000269PubMed:21524210}. Note=The disease is caused by mutations affecting the gene represented in this entry.IRF8 deficiency, autosomal recessive (IRF8DR) [MIM:614894]: A life-threatening pediatric disease characterized by monocyte and dendritic cell deficiency, myeloproliferation, and susceptibility to severe opportunistic infections, including disseminated BCG infection and oral candidiasis. {ECO:0000269PubMed:21524210}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Predominantly expressed in lymphoid tissues. {ECO:0000269PubMed:1460054, ECO:0000269PubMed:23166356}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 97 experimentally validated interaction(s) in this database.
They are also associated with 279 interaction(s) predicted by orthology.

Experimentally validated
Total	97 [view]
Protein-Protein	43 [view]
Protein-DNA	53 [view]
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	279 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000975	regulatory region DNA binding
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0003705	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0006355	regulation of transcription, DNA-templated
GO:0006366	transcription from RNA polymerase II promoter
GO:0006909	phagocytosis
GO:0006955	immune response
GO:0009617	response to bacterium
GO:0019221	cytokine-mediated signaling pathway
GO:0030099	myeloid cell differentiation
GO:0032729	positive regulation of interferon-gamma production
GO:0032735	positive regulation of interleukin-12 production
GO:0042742	defense response to bacterium
GO:0042832	defense response to protozoan
GO:0044130	negative regulation of growth of symbiont in host
GO:0045087	innate immune response (InnateDB)
GO:0045893	positive regulation of transcription, DNA-templated
GO:0060261	positive regulation of transcription initiation from RNA polymerase II promoter
GO:0060333	interferon-gamma-mediated signaling pathway
GO:0060337	type I interferon signaling pathway
GO:0071222	cellular response to lipopolysaccharide