MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP001549

UniProt Annotations

Entry Information
Gene Nameinterferon regulatory factor 8
Protein EntryIRF8_HUMAN
UniProt IDQ02556
SpeciesHuman
Comments
Comment typeDescription
DiseaseImmunodeficiency 32A (IMD32A) [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:0000269|PubMed:21524210}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseImmunodeficiency 32B (IMD32B) [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:0000269|PubMed:21524210}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionSpecifically 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}.
InductionBy IFNG/IFN-gamma. Negatively regulated by microRNA-155 (miR155). {ECO:0000269|PubMed:1460054, ECO:0000269|PubMed:23166356}.
InteractionO14896:IRF6; NbExp=3; IntAct=EBI-2866563, EBI-6115643;
PtmUbiquitinated. Ubiquitination by TRIM21 in macrophages, a process that is strongly increased upon interferon gamma stimulation, leds to the enhanced transcriptional activity of target cytokine genes (By similarity). {ECO:0000250}.
SimilarityBelongs to the IRF family. {ECO:0000255|PROSITE- ProRule:PRU00840}.
SimilarityContains 1 IRF tryptophan pentad repeat DNA-binding domain. {ECO:0000255|PROSITE-ProRule:PRU00840}.
Subcellular LocationNucleus {ECO:0000269|PubMed:23166356}.
SubunitInteracts (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. {ECO:0000250, ECO:0000269|PubMed:10991940}.
Tissue SpecificityPredominantly expressed in lymphoid tissues. {ECO:0000269|PubMed:1460054, ECO:0000269|PubMed:23166356}.
  logo