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MGP001652

UniProt Annotations

Entry Information
Gene Nameinterferon regulatory factor 4
Protein EntryIRF4_HUMAN
UniProt IDQ15306
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q15306-1; Sequence=Displayed; Name=2; IsoId=Q15306-2; Sequence=VSP_002755;
DiseaseMultiple myeloma (MM) [MIM:254500]: A malignant tumor of plasma cells usually arising in the bone marrow and characterized by diffuse involvement of the skeletal system, hyperglobulinemia, Bence-Jones proteinuria and anemia. Complications of multiple myeloma are bone pain, hypercalcemia, renal failure and spinal cord compression. The aberrant antibodies that are produced lead to impaired humoral immunity and patients have a high prevalence of infection. Amyloidosis may develop in some patients. Multiple myeloma is part of a spectrum of diseases ranging from monoclonal gammopathy of unknown significance (MGUS) to plasma cell leukemia. {ECO:0000269|PubMed:9326949}. Note=The gene represented in this entry may be involved in disease pathogenesis. A chromosomal aberration involving IRF4 has been found in multiple myeloma. Translocation t(6;14)(p25;q32) with the IgH locus.
FunctionTranscriptional activator. Binds to the interferon- stimulated response element (ISRE) of the MHC class I promoter. Binds the immunoglobulin lambda light chain enhancer, together with PU.1. Probably plays a role in ISRE-targeted signal transduction mechanisms specific to lymphoid cells. 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 IRF4 and activation of genes (By similarity). {ECO:0000250}.
InductionNot induced by interferons.
InteractionO95163:IKBKAP; NbExp=2; IntAct=EBI-751345, EBI-347559; P51617:IRAK1; NbExp=2; IntAct=EBI-751345, EBI-358664; Q86UE8:TLK2; NbExp=2; IntAct=EBI-751345, EBI-1047967; Q9H6S0:YTHDC2; NbExp=2; IntAct=EBI-751345, EBI-1057466;
PtmPhosphorylation by ROCK2 regulates IL-17 and IL-21 production. {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.
SubunitInteracts with the BATF-JUNB heterodimer. Interacts with BATF (via bZIP domain); the interaction is direct (By similarity). Interacts with SPIB and DEF6. {ECO:0000250, ECO:0000269|PubMed:10196196, ECO:0000269|PubMed:12651066}.
Tissue SpecificityLymphoid cells.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/IRF4ID231ch6p25.html";
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