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FLASH GENE
Symbol MAFB contributors: npt/mct/pgu - updated : 21-03-3015
HGNC name v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)
HGNC id 6408
Corresponding disease
DURS4 Duane retraction syndrome 4
MCTO multicentric carpotarsal osteolysis
Location 20q12      Physical location : 39.314.518 - 39.317.876
Synonym name
  • Kreisler (mouse) maf-related leucine zipper homolog
  • MAFB/Kreisler basic region/leucine zipper transcription factor
  • Synonym symbol(s) KRML, MGC43127, DURS3, MCTO
    DNA
    TYPE functioning gene
    STRUCTURE 3.36 kb     1 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site
    text structure
  • TFE3-binding site (EBox) in the MAFB promoter region that is conserved in different mammalian species
  • MAPPING cloned Y linked N status provisional
    Physical map
    RPS3P2 20q11.2 ribosomal protein S3 pseudogene 2 MGC39724 20q12 hypothetical protein MGC39724 LOC391247 20 similar to DNA replication complex GINS protein PSF2 (HSPC037) (CGI-122) (DC5) LOC343578 20q12 similar to dJ1100H13.4 (putative RhoGAP domain containing protein) VIAAT 20q11.23 vesicular inhibitory amino acid transporter FLJ12785 20q12 hypothetical protein FLJ12785 PPP1R16B 20q11.23-q12 protein phosphatase 1, regulatory (inhibitor) subunit 16B C20orf129 20q11.22-q12 chromosome 20 open reading frame 129 DHX35 20q11.22-q12 DEAH (Asp-Glu-Ala-His) box polypeptide 35 NPM1P19 20q11.23 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 19 HSPEP1 20 heat shock 10kDa protein 1 (chaperonin 10) pseudogene 1 MAFB 20q11.2-q13.1 v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian) TOP1 20q11.22-q11.23 topoisomerase (DNA) I PRO0628 20q12 PRO0628 protein PLCG1 20q12 phospholipase C, gamma 1 (formerly subtype 148) TIX1 20q12 triple homeobox 1 LOC391248 20 similar to LPIN3 EMILIN5 20q11.2-q12 elastin microfibril interfacer 5 CHD6 20q12 chromodomain helicase DNA binding protein 6 RPL12L2 20q12 ribosomal protein L12-like 2 LOC391249 20 similar to mKIAA0845 protein PTPRT 20q12-q13 protein tyrosine phosphatase, receptor type, T
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 3378 35.8 323 - 1999 9491317
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth   highly
    Endocrinepancreas   highly Homo sapiens
    Lymphoid/Immunespleen   highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...) Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES basic
    STRUCTURE
    motifs/domains
  • Pro-Ser-Thr domain,histidine repeat, extended homology region
  • basic and leucine zipper domain
  • conjugated sumoylated
    HOMOLOGY
    interspecies homolog to murine Kreisler maf-related leucine zipper
    Homologene
    FAMILY
  • bZIP family
  • Maf subfamily
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • transcriptional regulator of lineage specific hematopoiesis by repressing ETS1 mediated transcription of erythoid-specific gene in myeloid cells
  • regulator of hindbrain segmentation and interacts with the ICD of LRP1 through a leucine zipper domain
  • with MAFA regulate PDX1 transcription in pancreatic beta cells
  • plays a pivotal role in regulating lineage-specific hematopoiesis by repressing transcription of erythroid specific genes in myeloid cells and enhancing expression of macrophage and megakaryocytic genes (
  • specifically restricts the ability of CSF1 to instruct myeloid commitment divisions in hematopoietic stem cell
  • required for proper hindbrain segmentation and regulates other transcription factors involved in hindbrain patterning
  • critical for glucagon gene transcription and alpha cell differentiation
  • produced in a larger fraction of beta-cells than MAFA during development and regulate potential effectors of glucose sensing, hormone processing, vesicle formation, and insulin secretion
  • is one of the earliest direct targets of CDX1 and CDX1 plays a direct role in early hindbrain patterning
  • transcription factor that negatively regulates TNFSF11-induced osteoclastogenesis and is essential for normal renal development
  • KMT2C, KMT2D are broadly required for controlling MAFA and MAFB transactivation during development and postnatally
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    text central nervous system and sensory organ development (hearing)
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • SUMO modification of MAFB affects the balance between myeloid progenitor expansion and terminal macrophage differentiation by controlling MAFB transactivation capacity and susceptibility to MYB repression
  • interacting with PAX6 (binds directly and activates the promoter region of MAFB, MAF, and NEUROD1 genes in pancreatic alpha cells)
  • is one of the earliest direct targets of CDX1 and CDX1 plays a direct role in early hindbrain patterning
  • interacts with GCM2 and regulates parathyroid hormone expression and parathyroid development
  • GATA3 interacted with GCM2 and MAFB, two known transcriptional regulators of parathyroid development, and synergistically stimulated the PTH promoter
  • MAFB is a negative regulator of CSF2 signaling in microglia
  • MAFB, which is important to beta-cell formation and coproduced with MAFA in adult pancreatic islet beta-cells, bound KMT2D and KMT2C complexes
  • cell & other
    REGULATION
    Other MTOR regulates osteoclast formation by modulating the CEBPB isoform ratio, which in turn affects osteoclastogenesis by regulating MAFB expression
    ASSOCIATED DISORDERS
    corresponding disease(s) MCTO , DURS4
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   deletion    
    in myeloid leukemia
    tumoral   translocation    
    specific marker for the prognostic unfavorable t(14;20) (q32;q12) in multiple myeloma patients )
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • in mafB(-/-) mice, the parathyroid did not separate from the thymus, and PTH expression and secretion were impaired