interferon regulatory factor 4; lymphocyte-specific interferon regulatory factor; LSIRF; NF-EM5; multiple myeloma oncogene 1 (IRF4, MUM1)
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Function
- transcriptional activator
- binds to the interferon-stimulated response element (ISRE) of the MHC class 1 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
- interacts with SPIB & DEF6
- role in hair color
- involved in regulating production & storage of melanin
Structure
- belongs to the IRF family
- contains 1 tryptophan pentad repeat DNA-binding domain
Compartment
Alternative splicing
named isoforms=2
Expression
- lymphoid cells
- not induced by interferons
Pathology
- chromosomal translocation t(6;14)(p25;q32) involving IRF4 with the IgH locus may be a cause of multiple myeloma
- associated with the greying of hair[3]
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q15306.html
- ↑ Entrez Gene http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=3662
- ↑ 3.0 3.1 Medical Press. March 1, 2016 First gene for grey hair found. http://medicalxpress.com/news/2016-03-gene-grey-hair.html
Adhikari K, Fontanil T, Cal S et al A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features. Nat Commun. 2016 Mar 1;7:10815. PMID: https://www.ncbi.nlm.nih.gov/pubmed/26926045