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FLASH GENE
Symbol MAF contributors: mct - updated : 19-04-2015
HGNC name v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian)
HGNC id 6776
Corresponding disease
AXR2 Axenfeld-Rieger malformation 2
CCA4 cataract, congenital, cerulean type 4
CCDDL congenital cataracts, sensorineural deafness, Down -like facial appearance
CCMC congenital cataract - microcornea
CDOC pulverulent cataract, ocular anterior segment dysgenesis
Location 16q23.2      Physical location : 79.627.745 - 79.634.622
Synonym name
  • avian musculoaponeurotic fibrosarcoma protooncogene
  • T lymphocyte c-maf long form
  • Synonym symbol(s) MGC71685, c-MAF
    DNA
    TYPE functioning gene
    STRUCTURE 6.88 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    HSRG1 16q23.1 HSV-1 stimulation-related gene 1 ADAMTS18 16q23 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18 LOC388299 16 similar to coenzyme A diphosphatase KIAA1576 16q23.1 KIAA1576 protein CLECSF1 16q23 C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived) LOC342419 16q23.1 similar to keratin 8, type II cytoskeletal - human WWOX 16q23.3-q24.1 WW domain containing oxidoreductase LOC390742 16 similar to 40S ribosomal protein S3 MAF 16q22-q23 v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian) LOC339143 16q23.1 hypothetical LOC339143 LOC388300 16 LOC388300 DNCL2B 16q23.3 dynein, cytoplasmic, light polypeptide 2B CDYL2 16q23.2 chromodomain protein, Y-like 2 DC13 16q23.2 DC13 protein BM039 16q23.2 uncharacterized bone marrow protein BM039 KIAA0431 16q23.3 uncharacterized bone marrow protein BM039 FLJ32702 16q23.2 hypothetical protein FLJ32702 PKD1L2 16q23.2 polycystic kidney disease 1-like 2 BCDO1 16q21-q23 beta-carotene 15, 15'-dioxygenase GAN 16q24.1 giant axonal neuropathy (gigaxonin) CMIP 16q23 c-Maf-inducing protein FLJ14327 16q23.2 hypothetical protein FLJ14327 LOC388301 16 LOC388301 PLCG2 16q24.1 phospholipase C, gamma 2 (phosphatidylinositol-specific) HSPC105 16q23.2 NAD(P) dependent steroid dehydrogenase-like HSD17B2 16q24.1-q24.2 hydroxysteroid (17-beta) dehydrogenase 2 MPHOSPH6 16q23.1 M-phase phosphoprotein 6 CDH13 16q24.2 cadherin 13, H-cadherin (heart)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 splicing 2656 42 403 - 1998 9566892
    1 splicing 6887 38.5 373 - 1998 9566892
    only one exon
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen   highly
    Cardiovascularheart   highly
    Endocrineparathyroid   highly
    Hearing/Equilibriumear   highly
    Respiratorylung   highly
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunemacrophage Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal
    Text lens placode and vesicles primary lens fibers
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal basic leucine zipper (bZip) domain
  • His/Gly repeats domain
  • P/S/T-rich acidic domain
  • DNA-binding domain containing a highly conserved extended homology region (EHR) that allows to recognize longer DNA sequences than other basic leucine zipper (bZIP) transcription factors
  • mono polymer homomer , heteromer , dimer
    HOMOLOGY
    interspecies homolog to avian musculoaponeurotic fibrosarcoma (v-maf) oncogene
    Homologene
    FAMILY MAF family, activator protein 1 (AP-1) superfamily of transcription factors
    CATEGORY DNA associated , transcription factor , protooncogene
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • involved in the lens development and in the regulation of expression of eye lens cristallins
  • may be important in chondrocyte hypertrophy and terminal differentiation, and may be involved in the pathogenesis of osteoarthritis
  • required for the F4/80 expression in macrophages
  • implicated in transcriptional regulation of MMP13
  • can significantly enhance MMP13 promoter activity via the AP-1 site
  • cellular counterpart of v-maf oncogene, that is a potent transactivator of the IL4 gene in Th2 cells
  • essential for the induction of IL10 by Tr1 (Type 1 regulatory T cells)
  • critical for glucagon gene transcription and alpha cell differentiation
  • act as key regulator of terminal differentiation in many tissues and organs, including bone, brain, kidney, lens, pancreas, and retina
  • is crucial for mechanosensory function
  • its ubiquitination is mediated by multiple lysine residues, of which K85 and K350 were sufficient but not the only residues in mediating MAF ubiquitination
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with MYB (modulation of MYB activity may be an important mechanism for the control of gene transcription during hematopoietic cell development)
  • may be transcriptional regulator of GPX3 expression and modulate the antioxidative pathway in the kidney
  • can interact with UBE2I and PIAS1, two key enzymes of the SUMOylation pathway
  • interacting with PAX6 (binds directly and activates the promoter region of MAFB, MAF, and NEUROD1 genes in pancreatic alpha cells)
  • AHR acted in synergy with MAF to promote the development of Tr1 cells
  • MAT2A serves as a transcriptional corepressor of MAF oncoprotein
  • role of posttranslational modification of MAF in IL4 production and Th cell-mediated autoimmune diseases
  • TP53 directly regulates MAF and PROX1, two important transcription factors controlling differentiation in the ocular lens
  • KLF13 cooperates with MAF to regulate IL4 expression in CD4+ T cells
  • SOX5 and MAF cooperatively induce Th17 cell differentiation via the induction of RORC as downstream targets of STAT3
  • cell & other
    REGULATION
    Other SUMOylation of MAF attenuated its transcriptional activity, and SUMOylation at lysine-33 is a functionally critical post-translational modification event of MAF in Th cells
    could be polyubiquitinated and subsequently degraded in the proteasomes
    ASSOCIATED DISORDERS
    corresponding disease(s) AXR2 , CDOC , CCA4 , CCMC , CCDDL
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --other  
    dysregulated by translocation t(14;16)(q32;q23) to an Ig locus in multiple myelomas
    tumoral     --over  
    in hairy cell leukemia and in a significant proportion of T-cell and NK/T-cell lymphomas
    constitutional     --over  
    in osteoarthritic cartilage compared with normal cartilage
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS