TAG for IRF8

Gene content

Symbol

IRF8 ( by HUGO)

Name

Interferon Regulatory Factor 8

Category

Tumor suppressor gene

Alias

Interferon Regulatory Factor 8
ICSBP1
Interferon Consensus Sequence Binding Protein 1
H-ICSBP
ICSBP
IRF-8
Interferon Consensus Sequence-Binding Protein

Cytogenetic band

NCBI: 16q24.1 Ensembl: 16q24.1

Protein information

IRF8_HUMAN

Size: 426 amino acids

Mass: 48356 Da

Subunit: Interacts (via C-terminus) with TRIM21 (via C-terminus). Interacts with the BATF-JUNB heterodimer. Interacts with BATF (via bZIP domain); the interaction is direct (By similarity). Interacts with COPS2

Tissue specificity: Predominantly expressed in lymphoid tissues [IMAGE] Pathway & Disease-focused RT2 Profiler PCR Arrays including IRF8: Antigen Presenting Cells in human mouse rat Interferons & Receptors in human mouse rat T Helper Cell Differentiation in human mouse rat H

Function:

UniProtKB/Swiss-Prot Summary: IRF8_HUMAN, Q02556 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)

Similarity:

Belongs to the IRF family

Contains 1 IRF tryptophan pentad repeat DNA-binding domain [IMAGE]

Protein Domain/Family
Source	ID	Domain	Name	Type
InterPro	IPR001346	Interferon_reg_fact_DNA-bd_dom	Interferon regulatory factor	Domain
	IPR008984	SMAD_FHA_domain	SMAD/FHA	Domain
	IPR011991	WHTH_DNA-bd_dom	Winged helix repressor DNA-binding	Domain
Blocks	IPB001346	Interferon regulatory factor	Interferon regulatory factor

Gene Ontology
Type	Term	Evidence	Source	Pub
Biological Process	immune response	TAS	GOA	8861914
	negative regulation of transcription from RNA polymerase II promoter	TAS	GOA	1460054
	transcription from RNA polymerase II promoter	TAS	GOA	1460054
Molecular Function	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity	TAS	GOA	1460054

Disorder & Mutation
Source	Disease
SWISS-PROT	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. Note=The disease is caused by mutations affecting the gene represented in this entry
SWISS-PROT	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. Note=The disease is caused by mutations affecting the gene represented in this entry

IRF8 cross reference