U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

MYOD1 myogenic differentiation 1 [ Homo sapiens (human) ]

Gene ID: 4654, updated on 7-Apr-2025

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
Try the new Gene table
Try the new Transcript table

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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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
contributes_to DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables DNA-binding transcription activator activity IEA
Inferred from Electronic Annotation
more info
 
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 activator activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 
enables DNA-binding transcription factor activity IEA
Inferred from Electronic Annotation
more info
 
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 DNA-binding transcription factor activity, RNA polymerase II-specific TAS
Traceable Author Statement
more info
PubMed 
enables E-box binding IEA
Inferred from Electronic Annotation
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 cis-regulatory region sequence-specific DNA binding IEA
Inferred from Electronic Annotation
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 IEA
Inferred from Electronic Annotation
more info
 
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 IEA
Inferred from Electronic Annotation
more info
 
enables chromatin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables cis-regulatory region sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables enzyme binding IEA
Inferred from Electronic Annotation
more info
 
enables nuclear receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables promoter-specific chromatin binding IEA
Inferred from Electronic Annotation
more info
 
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 dimerization activity IEA
Inferred from Electronic Annotation
more info
 
enables protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
enables protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables sequence-specific DNA binding IEA
Inferred from Electronic Annotation
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 cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to estradiol stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to estradiol stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within cellular response to glucocorticoid stimulus IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within cellular response to oxygen levels IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within cellular response to starvation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within cellular response to tumor necrosis factor IEA
Inferred from Electronic Annotation
more info
 
involved_in muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in muscle cell fate commitment ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within muscle organ development IEA
Inferred from Electronic Annotation
more info
 
involved_in muscle organ development IEA
Inferred from Electronic Annotation
more info
 
involved_in muscle organ development TAS
Traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within myoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within myoblast fate determination IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within myoblast fusion IEA
Inferred from Electronic Annotation
more info
 
involved_in myotube cell development IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within myotube differentiation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within myotube differentiation involved in skeletal muscle regeneration IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within negative regulation of myoblast proliferation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within positive regulation of DNA-templated transcription 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 muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
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
 
acts_upstream_of_or_within 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 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 
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
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 DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of RNA splicing IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within regulation of alternative mRNA splicing, via spliceosome IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of gene expression 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
 
acts_upstream_of_or_within regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
involved_in skeletal muscle cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in skeletal muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within skeletal muscle fiber adaptation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within skeletal muscle fiber development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within skeletal muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
involved_in skeletal muscle tissue development TAS
Traceable Author Statement
more info
PubMed 
involved_in skeletal muscle tissue regeneration IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within striated muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in chromatin IEA
Inferred from Electronic Annotation
more info
 
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in chromatin ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in euchromatin IEA
Inferred from Electronic Annotation
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 IEA
Inferred from Electronic Annotation
more info
 
located_in nucleus TAS
Traceable Author Statement
more info
PubMed 
part_of transcription regulator complex IEA
Inferred from Electronic Annotation
more info
 
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)