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MYOD1 myogenic differentiation 1 [ Homo sapiens (human) ]

Gene ID: 4654, updated on 25-Nov-2021

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
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; 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
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Genomic context

See MYOD1 in Genome Data Viewer
Location:
11p15.1
Exon count:
3
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (17719571..17722136)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (17741118..17743683)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 4357 Neighboring gene Sharpr-MPRA regulatory region 13094 Neighboring gene potassium voltage-gated channel subfamily C member 1 Neighboring gene secretion regulating guanine nucleotide exchange factor 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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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
PubMed 
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
PubMed 
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 ISS
Inferred from Sequence or Structural Similarity
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 histone H3 acetylation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in histone H4 acetylation ISS
Inferred from Sequence or Structural Similarity
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 chromatin binding 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 binding 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
PubMed 
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
PubMed 
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
PubMed 
involved_in skeletal muscle cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
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)

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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
    P15172
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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