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MAFB
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2WT7, 2WTY, 4AUW
Identifiers
Aliases	MAFB, KRML, MCTO, MAF bZIP transcription factor B, DURS3
External IDs	OMIM: 608968; MGI: 104555; HomoloGene: 31315; GeneCards: MAFB; OMA:MAFB - orthologs
Gene location (Human) Chr. Chromosome 20 (human) Band 20q12 Start 40,685,848 bp End 40,689,236 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2 H2|2 80.92 cM Start 160,205,623 bp End 160,208,985 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in glomerulus skin of hip gums metanephric glomerulus gingival epithelium synovial membrane human penis synovial joint nipple skin of arm Top expressed in molar stroma of bone marrow temporal muscle glomerulus sternocleidomastoid muscle lip skin of external ear digastric muscle left lobe of liver muscle of thigh More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding DNA-binding transcription factor activity DNA-binding transcription activator activity, RNA polymerase II-specific transcription factor binding RNA polymerase II cis-regulatory region sequence-specific DNA binding protein binding protein homodimerization activity protein heterodimerization activity sequence-specific double-stranded DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific sequence-specific DNA binding Cellular component transcription regulator complex nucleus Biological process T cell differentiation in thymus negative regulation of osteoclast differentiation brain segmentation thymus development transcription by RNA polymerase II respiratory gaseous exchange by respiratory system segment specification negative regulation of erythrocyte differentiation nervous system development transcription, DNA-templated rhombomere 6 development rhombomere 5 development inner ear morphogenesis sensory organ development positive regulation of transcription by RNA polymerase II regulation of transcription, DNA-templated abducens nerve formation regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9935 16658 Ensembl ENSG00000204103 ENSMUSG00000074622 UniProt Q9Y5Q3 P54841 RefSeq (mRNA) NM_005461 NM_010658 RefSeq (protein) NP_005452 NP_034788 Location (UCSC) Chr 20: 40.69 – 40.69 Mb Chr 2: 160.21 – 160.21 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Transcription factor MafB also known as V-maf musculoaponeurotic fibrosarcoma oncogene homolog B is a protein that in humans is encoded by the MAFB gene. This gene maps to chromosome 20q11.2-q13.1, consists of a single exon and spans around 3 kb.

Function

MafB is a basic leucine zipper (bZIP) transcription factor that plays an important role in the regulation of lineage-specific hematopoiesis. The encoded nuclear protein represses ETS1-mediated transcription of erythroid-specific genes in myeloid cells.

Clinical significance

Mutations in the murine Mafb gene are responsible for the mutant mouse Kreisler (kr) that presents an abnormal segmentation of the hindbrain and exhibit hyperactive behavior, including head tossing and running in circles. This mice dies at birth due to renal failure whereas the Mafb -/- mice dies of central apnea.

Recently, single-nucleotide polymorphisms (SNPs) near MAFB have been found associated with nonsyndromic cleft lip and palate. The GENEVA Cleft Consortium study, a genomewide association study involving 1,908 case-parent trios from Europe, the United States, China, Taiwan, Singapore, Korea, and the Philippines, first identified MAFB as being associated with cleft lip and/or palate with stronger genome-wide significance in Asian than European populations. The difference in populations could reflect variable coverage by available markers or true allelic heterogeneity. In mouse models, Mafb mRNA and protein were detected in both craniofacial ectoderm and neural crest-derived mesoderm between embryonic days 13.5 and 14.5; expression was strong in the epithelium around the palatal shelves and in the medial edge epithelium during palatal fusion. After fusion, Mafb expression was stronger in oral epithelium compared to mesenchymal tissue. In addition, sequencing analysis detected a new missense mutation in the Filipino population, H131Q, that was significantly more frequent in cases than in matched controls. The gene-poor regions either side of the MAFB gene include numerous binding sites for transcription factors that are known to have a role in palate development.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000204103 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000074622 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Wang PW, Eisenbart JD, Cordes SP, Barsh GS, Stoffel M, Le Beau MM (Aug 1999). "Human KRML (MAFB): cDNA cloning, genomic structure, and evaluation as a candidate tumor suppressor gene in myeloid leukemias". Genomics. 59 (3): 275–81. doi:10.1006/geno.1999.5884. PMID 10444328.
6. ^ "Entrez Gene: MAFB v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)".
7. Cordes SP, Barsh GS (Dec 1994). "The mouse segmentation gene kr encodes a novel basic domain-leucine zipper transcription factor". Cell. 79 (6): 1025–34. doi:10.1016/0092-8674(94)90033-7. PMID 8001130. S2CID 19938958.
8. Artner I, Blanchi B, Raum JC, Guo M, Kaneko T, Cordes S, Sieweke M, Stein R (Mar 2007). "MafB is required for islet beta cell maturation". Proceedings of the National Academy of Sciences of the United States of America. 104 (10): 3853–8. Bibcode:2007PNAS..104.3853A. doi:10.1073/pnas.0700013104. PMC 1803762. PMID 17360442.
9. ^ Beaty TH, Murray JC, Marazita ML, Munger RG, Ruczinski I, Hetmanski JB, Liang KY, Wu T, Murray T, Fallin MD, Redett RA, Raymond G, Schwender H, Jin SC, Cooper ME, Dunnwald M, Mansilla MA, Leslie E, Bullard S, Lidral AC, Moreno LM, Menezes R, Vieira AR, Petrin A, Wilcox AJ, Lie RT, Jabs EW, Wu-Chou YH, Chen PK, Wang H, Ye X, Huang S, Yeow V, Chong SS, Jee SH, Shi B, Christensen K, Melbye M, Doheny KF, Pugh EW, Ling H, Castilla EE, Czeizel AE, Ma L, Field LL, Brody L, Pangilinan F, Mills JL, Molloy AM, Kirke PN, Scott JM, Scott JM, Arcos-Burgos M, Scott AF (Jun 2010). "A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4". Nature Genetics. 42 (6): 525–9. doi:10.1038/ng.580. PMC 2941216. PMID 20436469.
10. Dixon MJ, Marazita ML, Beaty TH, Murray JC. 2011. Cleft lip and palate: understanding genetic and environmental influences. Nature Reviews Genetics. 12: 167-178
11. Dixon MJ, Marazita ML, Beaty TH, Murray JC. 2011. Cleft lip and palate: understanding genetic and environmental influences. Nature Reviews Genetics. 12: 167-178

Further reading

• Cordes SP, Barsh GS (Dec 1994). "The mouse segmentation gene kr encodes a novel basic domain-leucine zipper transcription factor". Cell. 79 (6): 1025–34. doi:10.1016/0092-8674(94)90033-7. PMID 8001130. S2CID 19938958.
• Sieweke MH, Tekotte H, Frampton J, Graf T (Apr 1996). "MafB is an interaction partner and repressor of Ets-1 that inhibits erythroid differentiation". Cell. 85 (1): 49–60. doi:10.1016/S0092-8674(00)81081-8. PMID 8620536. S2CID 14498161.
• Stoffel M, Le Beau MM, Espinosa R, Bohlander SF, Le Paslier D, Cohen D, Xiang KS, Cox NJ, Fajans SS, Bell GI (Apr 1996). "A yeast artificial chromosome-based map of the region of chromosome 20 containing the diabetes-susceptibility gene, MODY1, and a myeloid leukemia related gene". Proceedings of the National Academy of Sciences of the United States of America. 93 (9): 3937–41. Bibcode:1996PNAS...93.3937S. doi:10.1073/pnas.93.9.3937. PMC 39463. PMID 8632993.
• Li R, Pei H, Watson DK, Papas TS (Feb 2000). "EAP1/Daxx interacts with ETS1 and represses transcriptional activation of ETS1 target genes". Oncogene. 19 (6): 745–53. doi:10.1038/sj.onc.1203385. PMID 10698492. S2CID 22299529.
• Yamada K, Tomita H, Yoshiura K, Kondo S, Wakui K, Fukushima Y, Ikegawa S, Nakamura Y, Amemiya T, Niikawa N (Jul 2000). "An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12". European Journal of Human Genetics. 8 (7): 535–9. doi:10.1038/sj.ejhg.5200485. PMID 10909854.
• Rosenberger G, Jantke I, Gal A, Kutsche K (Jan 2003). "Interaction of alphaPIX (ARHGEF6) with beta-parvin (PARVB) suggests an involvement of alphaPIX in integrin-mediated signaling". Human Molecular Genetics. 12 (2): 155–67. doi:10.1093/hmg/ddg019. PMID 12499396.
• Hashizume H, Hamalainen H, Sun Q, Sucharczuk A, Lahesmaa R (Jan 2003). "Downregulation of mafB expression in T-helper cells during early differentiation in vitro". Scandinavian Journal of Immunology. 57 (1): 28–34. doi:10.1046/j.1365-3083.2003.01181.x. PMID 12542795.
• Fernández-Calotti PX, Salamone G, Gamberale R, Trevani A, Vermeulen M, Geffner J, Giordano M (Jan 2003). "Downregulation of mac-1 expression in monocytes by surface-bound IgG". Scandinavian Journal of Immunology. 57 (1): 35–44. doi:10.1046/j.1365-3083.2003.01187.x. hdl:11336/54949. PMID 12542796. S2CID 41273554.
• Mechta-Grigoriou F, Giudicelli F, Pujades C, Charnay P, Yaniv M (Jun 2003). "c-jun regulation and function in the developing hindbrain". Developmental Biology. 258 (2): 419–31. doi:10.1016/S0012-1606(03)00135-0. PMID 12798298.
• Kim JC, Badano JL, Sibold S, Esmail MA, Hill J, Hoskins BE, Leitch CC, Venner K, Ansley SJ, Ross AJ, Leroux MR, Katsanis N, Beales PL (May 2004). "The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression". Nature Genetics. 36 (5): 462–70. doi:10.1038/ng1352. PMID 15107855.
• Sevinsky JR, Whalen AM, Ahn NG (May 2004). "Extracellular signal-regulated kinase induces the megakaryocyte GPIIb/CD41 gene through MafB/Kreisler". Molecular and Cellular Biology. 24 (10): 4534–45. doi:10.1128/MCB.24.10.4534-4545.2004. PMC 400447. PMID 15121870.
• Petersen HH, Hilpert J, Jacobsen C, Lauwers A, Roebroek AJ, Willnow TE (May 2004). "Low-density lipoprotein receptor-related protein interacts with MafB, a regulator of hindbrain development". FEBS Letters. 565 (1–3): 23–7. doi:10.1016/j.febslet.2004.03.069. PMID 15135046. S2CID 44547712.
• Bakri Y, Sarrazin S, Mayer UP, Tillmanns S, Nerlov C, Boned A, Sieweke MH (Apr 2005). "Balance of MafB and PU.1 specifies alternative macrophage or dendritic cell fate". Blood. 105 (7): 2707–16. doi:10.1182/blood-2004-04-1448. PMID 15598817.
• Gemelli C, Montanari M, Tenedini E, Zanocco Marani T, Vignudelli T, Siena M, Zini R, Salati S, Tagliafico E, Manfredini R, Grande A, Ferrari S (Oct 2006). "Virally mediated MafB transduction induces the monocyte commitment of human CD34+ hematopoietic stem/progenitor cells". Cell Death and Differentiation. 13 (10): 1686–96. doi:10.1038/sj.cdd.4401860. PMID 16456583.
• Lee LC, Zhang AY, Chong AK, Pham H, Longaker MT, Chang J (Feb 2006). "Expression of a novel gene, MafB, in Dupuytren's disease". The Journal of Hand Surgery. 31 (2): 211–8. doi:10.1016/j.jhsa.2005.09.007. PMID 16473681.

External links

• MAFB+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• MAFB human gene location in the UCSC Genome Browser.
• MAFB human gene details in the UCSC Genome Browser.

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

• Genes on human chromosome 20
• Transcription factors