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    MYOD1 myogenic differentiation 1 [ Homo sapiens (human) ]

    Gene ID: 4654, updated on 9-Dec-2024

    Summary

    Official Symbol
    MYOD1provided by HGNC
    Official Full Name
    myogenic differentiation 1provided by HGNC
    Primary source
    HGNC:HGNC:7611
    See related
    Ensembl:ENSG00000129152 MIM:159970; AllianceGenome:HGNC:7611
    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; CMYO17; CMYP17; bHLHc1; MYODRIF
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Genomic context

    See MYOD1 in Genome Data Viewer
    Location:
    11p15.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (17719571..17722136)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (17817261..17819826)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (17741118..17743683)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene otogelin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17623679-17624178 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17626113-17626614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17666796-17667296 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17667297-17667797 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17672009-17672509 Neighboring gene Sharpr-MPRA regulatory region 4357 Neighboring gene Sharpr-MPRA regulatory region 13094 Neighboring gene long intergenic non-protein coding RNA 2729 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17736199-17736699 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:17742579-17743090 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:17742067-17742578 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3187 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17782125-17782626 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17787029-17787530 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17787531-17788030 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17792794-17793294 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17793295-17793795 Neighboring gene potassium voltage-gated channel subfamily C member 1 Neighboring gene secretion regulating guanine nucleotide exchange factor Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:17854771-17855271 Neighboring gene uncharacterized LOC124902642 Neighboring gene uncharacterized LOC107984317

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    enables E-box binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA polymerase II-specific DNA-binding transcription factor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables bHLH transcription factor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables chromatin DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables chromatin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables nuclear receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables promoter-specific chromatin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ubiquitin protein ligase binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in cellular response to estradiol stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to glucocorticoid stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to oxygen levels IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to starvation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to tumor necrosis factor IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in muscle cell fate commitment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in muscle organ development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in myoblast fate determination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in myoblast fusion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in myotube cell development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in myotube differentiation involved in skeletal muscle regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of myoblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of muscle cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of myoblast differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of myoblast fusion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of skeletal muscle fiber development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of skeletal muscle tissue regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of snRNA transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein phosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of RNA splicing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of alternative mRNA splicing, via spliceosome IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in skeletal muscle cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in skeletal muscle fiber adaptation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skeletal muscle fiber development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skeletal muscle tissue development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in chromatin ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in euchromatin ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in myofibril IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    part_of transcription regulator complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    myoblast determination protein 1
    Names
    class C basic helix-loop-helix protein 1
    myf-3
    myogenic factor 3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_002478.5NP_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
      O75321, P15172
      UniProtKB/TrEMBL
      B2RC72
      Related
      ENSP00000250003.3, ENST00000250003.4
      Conserved Domains (3) summary
      smart00520
      Location:19114
      BASIC; Basic domain in HLH proteins of MYOD family
      cd18936
      Location:105165
      bHLH_TS_MYOD1_Myf3; basic helix-loop-helix (bHLH) domain found in myoblast determination protein 1 (MYOD1) and similar proteins
      pfam12232
      Location:191259
      Myf5; Myogenic determination factor 5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      17719571..17722136
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      17817261..17819826
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)