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FLASH GENE
Symbol MAFA contributors: mct/npt - updated : 19-03-2017
HGNC name v-maf musculoaponeurotic fibrosarcoma oncogene homolog A (avian)
HGNC id 23145
Location 8q24.3      Physical location : 144.511.514 - 144.512.576
Synonym name
  • pancreatic beta-cell-specific transcriptional activator
  • transcription factor RIPE3b1
    • Synonym symbol(s) MAFAL, RIPE3b1, KLRG1
    DNA
    TYPE functioning gene
    STRUCTURE 2.37 kb     1 Exon(s)
    regulatory sequence Promoter
    Binding site
    motif
    text structure
  • ONECUT1 suppresses the promoter activity of MAFA through the FOXA2-binding cis-element on the MAFA enhancer region (named area A)
  • initial characterization of the beta-cell-specific MAFA promoter identified six conserved sequence domains
    • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 2373 36.8 353 - 2008 1852293
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas    
    Urinarykidney    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal domain of MAFA plays a major role in MAPK14-mediated degradation
    • conjugated sumoylated
    HOMOLOGY
    interspecies homolog to murine LOC239540
    homolog to rattus LOC366949
    homolog to zebrafish Mafl
    Homologene
    FAMILY
  • bZIP family
  • Maf subfamily
    • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • plays a key role in coordinating and controlling the level of insulin gene expression in islet beta cells (Zhao 2005)
  • isolated beta-cell-specific transcription factor that functions as a potent activator of insulin gene transcription (Kaneto 2008)
  • playing a critical role in islet beta-cell function (Matsuoka 2007)
  • with MAFB regulate PDX1 transcription in pancreatic beta cells (Vanhoose 2008)
  • should be used to enhance maturation, rather than specification, of beta-cells from stem/progenitor cells
  • MAFA and MAFB regulate genes critical to beta-cells in a unique temporal manner
  • transcription factor that functions as a beta cell differentiation factor during development and a beta cell function-maintaining factor in adult life
  • basic-leucine zipper transcription factor that is important to pancreatic beta-cell function, is regulated by several intricate mechanism
  • MAFA, PDX1 and NEUROG3 (an upstream regulator of Beta2/NEUROD1) leads to the effective reprogramming of acinar cells into insulin-producing beta cells
  • key regulator of insulin gene expression and maturation of islet beta cell
  • PDX1, NEUROG3 and MAFA, are very important in pancreatic development
  • essential transcriptional regulator of islet beta-cells
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • MAPK14 is a major regulator of MAFA protein stability under oxidative stress
  • HNF1A regulates MAFA in beta-cells, suggesting that compromised MAFA expression contributes to beta-cell dysfunction in maturity onset diabetes of the young
  • ATF2 interacts with beta-cell-enriched transcription factors, MAFA, PDX1, and NEUROD1, and activates insulin gene transcription
  • key role of PPARG in regulating pancreatic beta-cell function by improving the stability of PDX1 and MAFA proteins
  • ONECUT1 is a negative regulator of MAFA gene expression
  • ZBED6 binding to the MAFA gene was found in myoblasts, but was not presently observed in human islet cells
  • KMT2C, KMT2D are broadly required for controlling MAFA and MAFB transactivation during development and postnatally
  • KMT2C, KMT2D are broadly required for controlling MAFA and MAFB transactivation during development and postnatally
  • NRDC controls beta-cell function via regulation of the ISL1-MAFA pathway
    • cell & other
    REGULATION
    Other SUMOylation is a functional post-translational modification of MAFA that negatively regulates its transcriptional and transforming activities
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    with PDX1 in diabetic patient in beta-cells (leads to suppression of insulin biosynthesis and secretion) (Kaneto 2008)
    constitutional     --low  
    markedly decreased in type 2 diabetes, which may contribute to impaired beta cell dysfunction
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    diabete  
    could be a novel therapeutic target for diabetes
    ANIMAL & CELL MODELS
  • MafA-deficient mice have a normal proportion of insulin+ cells at birth but develop diabetes gradually with age