• Gene id: 4654

Gene Summary

• Gene Symbol: MYOD1   Gene   UCSC   Ensembl
• Aliases: MYF3, MYOD, PUM, bHLHc1
• Gene name: myogenic differentiation 1
• Alternate names: myoblast determination protein 1, class C basic helix-loop-helix protein 1, myf-3, myogenic factor 3,
• Gene location: 11p15.1 (17719570: 17722135)     Exons: 3     NC_000011.10
• Gene summary(Entrez): 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 initiati
• OMIM: 601714

Protein Summary

• Protein general information: P15172  
  • Name: Myoblast determination protein 1 (Class C basic helix loop helix protein 1) (bHLHc1) (Myogenic factor 3) (Myf 3)
  • Length: 320  
  • Mass: 34501
• Sequence:

  MELLSPPLRDVDLTAPDGSLCSFATTDDFYDDPCFDSPDLRFFEDLDPRLMHVGALLKPEEHSHFPAAVHPAPGA
  REDEHVRAPSGHHQAGRCLLWACKACKRKTTNADRRKAATMRERRRLSKVNEAFETLKRCTSSNPNQRLPKVEIL
  RNAIRYIEGLQALLRDQDAAPPGAAAAFYAPGPLPPGRGGEHYSGDSDASSPRSNCSDGMMDYSGPPSGARRRNC
  YEGAYYNEAPSEPRPGKSAAVSSLDCLSSIVERISTESPAAPALLLADVPSESPPRRQEAAAPSEGESSGDPTQS
  PDAAPQCPAGANPNPIYQVL

• Structural information:
  • Protein Domains: (109..16-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981"-)
  • Interpro: IPR002546  IPR011598  IPR036638  IPR022032  IPR039704  
  • Prosite: PS50888
  • CDD: cd00083
  • DIP: 704
  • STRING: ENSP00000250003
• Other Databases: GeneCards:  MYOD1  Malacards:  MYOD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001102	RNA polymerase II activating transcription factor binding	ISS	molecular function
GO:0042803	protein homodimerization activity	ISS	molecular function
GO:0070888	E-box binding	ISS	molecular function
GO:0005719	nuclear euchromatin	ISS	cellular component
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0048743	positive regulation of skeletal muscle fiber development	IBA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:1901741	positive regulation of myoblast fusion	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0045663	positive regulation of myoblast differentiation	IBA	biological process
GO:0035914	skeletal muscle cell differentiation	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0071392	cellular response to estradiol stimulus	ISS	biological process
GO:0035257	nuclear hormone receptor binding	IPI	molecular function
GO:0003682	chromatin binding	ISS	molecular function
GO:1990841	promoter-specific chromatin binding	ISS	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0043967	histone H4 acetylation	ISS	biological process
GO:0043966	histone H3 acetylation	ISS	biological process
GO:0031490	chromatin DNA binding	ISS	molecular function
GO:0070888	E-box binding	ISS	molecular function
GO:1905382	positive regulation of snRNA transcription by RNA polymerase II	ISS	biological process
GO:0007517	muscle organ development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0007517	muscle organ development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0006468	protein phosphorylation	TAS	biological process
GO:0007519	skeletal muscle tissue development	TAS	biological process
GO:0006357	regulation of transcription by RNA polymerase II	TAS	biological process
GO:0007517	muscle organ development	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0051149	positive regulation of muscle cell differentiation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IEA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0007517	muscle organ development	IEA	biological process
GO:0014902	myotube differentiation	IEA	biological process
GO:0014908	myotube differentiation involved in skeletal muscle regeneration	IEA	biological process
GO:0031625	ubiquitin protein ligase binding	IEA	molecular function
GO:0043415	positive regulation of skeletal muscle tissue regeneration	IEA	biological process
GO:0043503	skeletal muscle fiber adaptation	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0045445	myoblast differentiation	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0048741	skeletal muscle fiber development	IEA	biological process
GO:0051146	striated muscle cell differentiation	IEA	biological process
GO:0051149	positive regulation of muscle cell differentiation	IEA	biological process
GO:0071356	cellular response to tumor necrosis factor	IEA	biological process
GO:0071392	cellular response to estradiol stimulus	IEA	biological process
GO:0071453	cellular response to oxygen levels	IEA	biological process
GO:1990841	promoter-specific chromatin binding	IEA	molecular function
GO:0000790	nuclear chromatin	IEA	cellular component
GO:0000987	cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003713	transcription coactivator activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007518	myoblast fate determination	IEA	biological process
GO:0007519	skeletal muscle tissue development	IEA	biological process
GO:0007520	myoblast fusion	IEA	biological process
GO:0008134	transcription factor binding	IEA	molecular function
GO:0009267	cellular response to starvation	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0019899	enzyme binding	IEA	molecular function
GO:0030016	myofibril	IEA	cellular component
GO:0031490	chromatin DNA binding	IEA	molecular function
GO:0035914	skeletal muscle cell differentiation	IEA	biological process
GO:0043966	histone H3 acetylation	IEA	biological process
GO:0043967	histone H4 acetylation	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0070888	E-box binding	IEA	molecular function
GO:0071385	cellular response to glucocorticoid stimulus	IEA	biological process
GO:1905382	positive regulation of snRNA transcription by RNA polymerase II	IEA	biological process
GO:2000818	negative regulation of myoblast proliferation	IEA	biological process
GO:0070888	E-box binding	ISS	molecular function
GO:0014904	myotube cell development	IDA	biological process
GO:0051149	positive regulation of muscle cell differentiation	IDA	biological process
GO:0042693	muscle cell fate commitment	ISS	biological process
GO:0043484	regulation of RNA splicing	IDA	biological process
GO:1901741	positive regulation of myoblast fusion	IDA	biological process
GO:0000790	nuclear chromatin	ISS	cellular component
GO:0005667	transcription regulator complex	ISS	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05017	Spinocerebellar ataxia

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881