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interferon regulatory factor 4; lymphocyte-specific interferon regulatory factor; LSIRF; NF-EM5; multiple myeloma oncogene 1 (IRF4, MUM1)

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: nucleus 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]

General

interferon regulatory factor family

Properties

SIZE: entity length = 451 aa MW = 52 kD COMPARTMENT: cell nucleus MOTIF: DNA-binding motif SITE: 23-125

Database Correlations

OMIM correlations UniProt Q15306 Pfam PF00605 Entrez Gene 3662 Kegg hsa:3662

References

  1. UniProt :accession Q15306
  2. Entrez Gene :accession 3662
  3. 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: 26926045