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    MYOD1 myogenic differentiation 1 [ Homo sapiens (human) ]

    Gene ID: 4654, updated on 22-Apr-2017
    Official Symbol
    MYOD1provided by HGNC
    Official Full Name
    myogenic differentiation 1provided by HGNC
    Primary source
    HGNC:HGNC:7611
    See related
    Ensembl:ENSG00000129152 MIM:159970; Vega:OTTHUMG00000166358
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PUM; MYF3; MYOD; bHLHc1
    Summary
    This gene encodes a nuclear protein that belongs to the basic helix-loop-helix family of transcription factors and the myogenic factors subfamily. It regulates muscle cell differentiation by inducing cell cycle arrest, a prerequisite for myogenic initiation. The protein is also involved in muscle regeneration. It activates its own transcription which may stabilize commitment to myogenesis. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    11p15.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (17719563..17722131)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (17741110..17743678)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene otogelin Neighboring gene uncharacterized LOC102723330 Neighboring gene potassium voltage-gated channel subfamily C member 1 Neighboring gene secretion regulating guanine nucleotide exchange factor Neighboring gene uncharacterized LOC107984317

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    E-box binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    RNA polymerase II core promoter proximal region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    RNA polymerase II regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromatin DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    chromatin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    core promoter binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nuclear hormone receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transcription coactivator activity IEA
    Inferred from Electronic Annotation
    more info
     
    transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription factor binding IEA
    Inferred from Electronic Annotation
    more info
     
    transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ubiquitin protein ligase binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cellular response to estradiol stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to glucocorticoid stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to oxygen levels IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to starvation IEA
    Inferred from Electronic Annotation
    more info
     
    histone H3 acetylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    histone H4 acetylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    muscle cell fate commitment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    muscle organ development TAS
    Traceable Author Statement
    more info
    PubMed 
    myoblast fate determination IEA
    Inferred from Electronic Annotation
    more info
     
    myoblast fusion IEA
    Inferred from Electronic Annotation
    more info
     
    myotube cell development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    myotube differentiation involved in skeletal muscle regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of myoblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of muscle cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of muscle cell differentiation TAS
    Traceable Author Statement
    more info
     
    positive regulation of myoblast differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    positive regulation of myoblast fusion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of skeletal muscle fiber development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    positive regulation of skeletal muscle tissue regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein phosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of RNA splicing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of alternative mRNA splicing, via spliceosome IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
    PubMed 
    skeletal muscle cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    skeletal muscle fiber adaptation IEA
    Inferred from Electronic Annotation
    more info
     
    skeletal muscle fiber development IEA
    Inferred from Electronic Annotation
    more info
     
    skeletal muscle tissue development TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    myofibril IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear body IDA
    Inferred from Direct Assay
    more info
     
    nuclear chromatin ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription factor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    myoblast determination protein 1
    Names
    class C basic helix-loop-helix protein 1
    myf-3
    myogenic factor 3

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_002478.4NP_002469.2  myoblast determination protein 1

      See identical proteins and their annotated locations for NP_002469.2

      Status: REVIEWED

      Source sequence(s)
      AC124301, AI300241, BF205042, BF304059
      Consensus CDS
      CCDS7826.1
      UniProtKB/Swiss-Prot
      P15172
      Related
      ENSP00000250003.3, OTTHUMP00000232717, ENST00000250003.3, OTTHUMT00000389387
      Conserved Domains (3) summary
      smart00520
      Location:19114
      BASIC; Basic domain in HLH proteins of MYOD family
      pfam00010
      Location:110161
      HLH; Helix-loop-helix DNA-binding domain
      pfam12232
      Location:191259
      Myf5; Myogenic determination factor 5

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      17719563..17722131
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      17740837..17743405
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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