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FLASH GENE
Symbol MYOD1 contributors: mct/npt/pgu - updated : 27-02-2015
HGNC name myogenic differentiation 1
HGNC id 7611
Location 11p15.1      Physical location : 17.741.109 - 17.743.677
Synonym name
  • myogenic factor 3
  • myoblast determination protein 1
    • Synonym symbol(s) MYF3, PUM, MYOD, bHLHc1
    DNA
    TYPE functioning gene
    STRUCTURE 2.57 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure
  • POU5F1 acts as a transcriptional suppressor of MYOD1 gene expression through its interaction with the upstream enhancer region
    • MAPPING cloned Y linked N status confirmed
    Map pter - D11S861 - D11S574 - D11S419 - D11S902 - MYOD1 - KCNC1 - D11S18 - TPH1 - (SAA@ - LDHA /LDHC ),GTF2H1 - D11S729 /D11S955E - D11S921 - D11S1310 - D11S455 - D11S21 - D11S899 - cen
    Authors Fantes (95)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 1823 34.4 320 - 1992 1406681
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal predominantly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal
    Text skeletal muscle
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal domain critical for its degradation
  • a short N-terminal segment necessary and sufficient to render MyoD susceptible for ubiquitin- and nuclear-dependent degradation
    • mono polymer homomer , heteromer , dimer
    HOMOLOGY
    Homologene
    FAMILY
  • myogenic b(hlh) family of transcription factors
  • MEF1 subfamily
    • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • transcription activator of muscle specific genes (myogenic differentiation 1) by binding the E box
  • promoting cell cycle exit by inducing CDKNIA (p21)
  • acting as a transcriptional activator in undifferentiated myoblasts
  • functioning as a transcriptional activator in myogenic stem cells and exhibiting different gene target specificities, depending upon the cellular environment
  • regulates the skeletal muscle differentiation program
  • can be considered to be a determining factor of myogenic lineages
  • MYOD1 expressing cells serve as a Noggin delivery system to regulate the morphogenesis of the lens and optic cup
  • transcriptional factor that is required for the differentiation of muscle stem cells (satellite cells)
  • master regulator of myogenesis, exhibits a circadian rhythm in its mRNA and protein levels
  • MYOD1 function is potentially coupled to NF-KB activity through TRAF7, regulating the balance between cell cycle progression and differentiation during myogenesis
  • directs stem cells into the skeletal muscle lineage by binding and activating the expression of premyogenic mesoderm genes, prior to activating myoblast genes
  • transcription factor of the myogenic basic helix-loop-helix family required for the process of muscle cell differentiation
  • GRN growth factor, JUNB, and MYOD1 transcription factor form a regulatory loop and act in concert in the course of myogenesis
  • MYOD1 methylation is a distinct epigenetic modification that plays a prominent role in restricting MYOD1 activity in myoblasts and, consequently, skeletal muscle differentiation
  • unconventional epigenetic mechanism that connects EHMT2 to maintenance of an undifferentiated fate by methylation of MYOD1
  • role for MYOD1 in the early mesoderm in regulating a set of genes that are essential for both myogenesis and somitogenesis
  • MYOD1 has the ability to permeate the cell membrane without the addition of a protein transduction domain (PTD), similar to other basic helix-loop-helix transcription factors such as OLIG2 and NEUROD2
  • role for MYOD1 in condition-specific enhancer assembly through recruitment of transcription factors and histone-modifying enzymes that shape muscle differentiation
  • initial specification of the muscle lineage by MYF5 occurs without significant induction of gene transcription, but transcription of the skeletal muscle program is achieved by the subsequent expression of MYOD1, which binds to the same sites as MYF5
    • CELLULAR PROCESS cell cycle, checkpoint
    cell life, differentiation
    nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    text triggering muscle differentiation by activting genes involved in growth arrest and genes whose products determine the muscle phenotype
    PATHWAY
    metabolism
    signaling
    a component
  • heterodimerizing with E2A and binding DNA cooperatively with PBXs/MEISs/PKNOX1, also forming heterodimers with OTF2 and others
    • INTERACTION
    DNA binding cooperatively with PBXs/MEISs/PKNOX1
    RNA
    small molecule
    protein
  • MYOD1 targets TAF3/TBPL2 to activate myogenin transcription
  • rapid suppression of MYOD1 by FBXO32 seems to be a major event leading to skeletal muscle wasting
  • function for MYOD1 in regulating CDC6 that is vital to endowing chromatin with the capability of replicating DNA
  • WWTR1 physically interacts with MYOD1 through the WW domain and activates MYOD1-dependent gene transcription
  • SEPW1 is activated by the binding of MYOD1 to a specific E-box during early skeletal muscle differentiation
  • direct target of the circadian transcriptional activators CLOCK and ARNTL
  • TRAF7 is a direct MYOD1 target
  • MYOD1 or ETV4 could bind to the E-box and ETV4 sites on the ABCB1 promoter and activate its transcription
  • CDKN1C drives potentially muscle differentiation through a positive feedback loop with MYOD1
  • direct interaction between CTCF and MYOD1 (CTCF is necessary for recruitment of MYOD1 to at least some of its target promoters and for muscle-specific gene expression activation)
  • suppression of MYOD1 gene expression by POU5F1 is required for the initial reprogramming step in the development of iPSCs (induced pluripotent stem cells) from myoblasts
  • KAT5 is required for myoblast differentiation via enhancement of the transcriptional activity of MYOD1
  • SMARCD3 facilitates MYOD1 binding to target genes and marks the chromatin for signal-dependent recruitment of the SWI/SNF core to muscle genes
  • leucine limitation regulates MYF5 and MYOD1 expression and inhibits myoblast differentiation
  • EHMT2 is a unique inhibitor of skeletal muscle differentiation that plays a dominant role in MYOD1 activation
  • involvement of HUWE1 in the ubiquitination and proteasomal degradation of MYOD1
  • essential role of MAMSTR in transcriptional regulation of MYOD1 expression, and activates a muscle-specific postnatal MYOD1 enhancer through associations with MEF2 and members of the Myocardin family
  • determines cell fate and facilitates differentiation-dependent gene expression through CHD2-dependent deposition of H3F3A at myogenic loci prior to differentiation
  • FBXO32 targeting MYOD1 for degradation through the ubiquitin-proteasome-mediated system
  • SNAI1 regulates MYOD binding-site occupancy to direct enhancer switching and differentiation-specific transcription in myogenesis
  • INPP5K regulates MYOD1-mediated muscle differentiation
  • concomitant MYOD1 and IGF2 inactivation accelerates differentiation of a brown preadipocyte cell line and induces lipid accumulation and increased UCP1 and PRDM16 expression
  • SIX1 is essential for embryonic myogenesis, also regulating MYOD1 expression in muscle progenitor cells
  • EBF3 binds directly to the promoter of ATP2A1 and synergises with MYOD1 in the induction of ATP2A1
  • TRIM27 works as an E3 ligase in PAX7-induced degradation of MYOD1
  • TRIM28 is a key regulator of MYOD1 function
  • MYOD1 and MYOG might likely control skeletal muscle metabolism and homeostasis through the regulation of TAS1R3 promoter activity
  • METTL3 is required for MYOD1 mRNA expression in proliferative myoblasts
    • cell & other
    REGULATION
    activated by SMARCA2 and SMARCA4 for muscle differentiation
    Other silenced by HDAC1 in undifferentiated
    acetylated by PCAF undifferentiated cells (in vitro) skeletal muscle
    regulated by the circadian transcriptional activators CLOCK and ARNTL
    leucine limitation regulates MYF5 and MYOD1 expression and inhibits myoblast differentiation
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    concomitant of MYOD1 and IGF2 accelerates differentiation of a brown preadipocyte cell line and induces lipid accumulation and increased UCP1 and PRDM16 expression
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neuromuscularmyopathy 
    may play an important role in the cell therapy and cell-mediated gene therapy of the skeletal muscle
    ANIMAL & CELL MODELS