IRF4

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IRF4
Protein IRF4 PDB 2dll.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases IRF4, LSIRF, MUM1, NF-EM5, SHEP8, interferon regulatory factor 4
External IDs MGI: 1096873 HomoloGene: 1842 GeneCards: 3662
Genetically Related Diseases
Disease Name References
chronic lymphocytic leukemia
skin carcinoma
progressive supranuclear palsy
RNA expression pattern
PBB GE IRF4 216986 s at tn.png

PBB GE IRF4 216987 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001195286
NM_002460

NM_013674

RefSeq (protein)

NP_001182215.1
NP_002451.2

NP_038702.1

Location (UCSC) Chr 6: 0.39 – 0.41 Mb Chr 13: 30.75 – 30.77 Mb
PubMed search [4] [5]
Wikidata
View/Edit Human View/Edit Mouse

Interferon regulatory factor 4 also known as MUM1 is a protein that in humans is encoded by the IRF4 gene,[1][2][3] located at 6p25-p23.

The MUM1 symbol is polysemous; although it is an older synonym for IRF4 (HGNC:6119), it is also the current HGNC official symbol for melanoma associated antigen (mutated) 1 (HGNC:29641; located at 19p13.3).

Clinical significance[edit]

In melanocytic cells the IRF4 gene may be regulated by MITF.[4] IRF4 is a transcription factor that has been implicated in acute leukemia.[5] This gene is strongly associated with pigmentation: sensitivity of skin to sun exposure, freckles, blue eyes, and brown hair color.[6] A variant has been implicated in greying of hair.[7]

Interactions[edit]

IRF4 has been shown to interact with:

See also[edit]

References[edit]

  1. ^ Grossman A, Mittrücker HW, Nicholl J, Suzuki A, Chung S, Antonio L, Suggs S, Sutherland GR, Siderovski DP, Mak TW (Feb 1997). "Cloning of human lymphocyte-specific interferon regulatory factor (hLSIRF/hIRF4) and mapping of the gene to 6p23-p25". Genomics 37 (2): 229–33. doi:10.1006/geno.1996.0547. PMID 8921401. 
  2. ^ Xu D, Zhao L, Del Valle L, Miklossy J, Zhang L (Jun 2008). "Interferon regulatory factor 4 is involved in Epstein-Barr virus-mediated transformation of human B lymphocytes". J Virol 82 (13): 6251–8. doi:10.1128/JVI.00163-08. PMC 2447047. PMID 18417578. 
  3. ^ "Entrez Gene: IRF4 interferon regulatory factor 4". 
  4. ^ Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971. 
  5. ^ Adamaki M, Lambrou GI, Athanasiadou A, Tzanoudaki M, Vlahopoulos S, Moschovi M (2013). "Implication of IRF4 aberrant gene expression in the acute leukemias of childhood". PLoS ONE 8 (8): e72326. doi:10.1371/journal.pone.0072326. PMC 3744475. PMID 23977280. 
  6. ^ Praetorius C, Grill C, Stacey SN, Metcalf AM, Gorkin DU, Robinson KC, et al. (November 2013). "A Polymorphism in IRF4 Affects Human Pigmentation through a Tyrosinase-Dependent MITF/TFAP2A Pathway". Cell 155 (5): 1022–33. doi:10.1016/j.cell.2013.10.022. PMID 24267888. 
  7. ^ Adhikari K, Fontanil T, Cal S, Mendoza-Revilla J, Fuentes-Guajardo M, Chacón-Duque JC, et al. (2016). "A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features". Nature Communications 7: 10815. doi:10.1038/ncomms10815. PMID 26926045. Lay summaryBBC News. 
  8. ^ a b Gupta S, Jiang M, Anthony A, Pernis AB (December 1999). "Lineage-specific modulation of interleukin 4 signaling by interferon regulatory factor 4". J. Exp. Med. 190 (12): 1837–48. doi:10.1084/jem.190.12.1837. PMC 2195723. PMID 10601358. 
  9. ^ Rengarajan J, Mowen KA, McBride KD, Smith ED, Singh H, Glimcher LH (April 2002). "Interferon regulatory factor 4 (IRF4) interacts with NFATc2 to modulate interleukin 4 gene expression". J. Exp. Med. 195 (8): 1003–12. doi:10.1084/jem.20011128. PMC 2193700. PMID 11956291. 
  10. ^ Brass AL, Zhu AQ, Singh H (February 1999). "Assembly requirements of PU.1-Pip (IRF-4) activator complexes: inhibiting function in vivo using fused dimers". EMBO J. 18 (4): 977–91. doi:10.1093/emboj/18.4.977. PMC 1171190. PMID 10022840. 
  11. ^ Escalante CR, Shen L, Escalante MC, Brass AL, Edwards TA, Singh H, Aggarwal AK (July 2002). "Crystallization and characterization of PU.1/IRF-4/DNA ternary complex". J. Struct. Biol. 139 (1): 55–9. doi:10.1016/S1047-8477(02)00514-2. PMID 12372320. 

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.