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... See more...

Aliases for MYOD1 Gene

Aliases for MYOD1 Gene

  • Myogenic Differentiation 1 2 3 5
  • Myoblast Determination Protein 1 2 3 4
  • Myogenic Factor 3 2 3 4
  • BHLHc1 2 3 4
  • MYOD 2 3 4
  • Class C Basic Helix-Loop-Helix Protein 1 3 4
  • Myf-3 3 4
  • MYF3 3 4
  • PUM 2 3
  • MYODRIF 3
  • BHLHC1 4
  • MYOD1 5

External Ids for MYOD1 Gene

Previous HGNC Symbols for MYOD1 Gene

  • MYF3

Previous GeneCards Identifiers for MYOD1 Gene

  • GC11P018862
  • GC11P018683
  • GC11P017780
  • GC11P017705
  • GC11P017697
  • GC11P017425

Summaries for MYOD1 Gene

Entrez Gene Summary for MYOD1 Gene

  • 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]

CIViC Summary for MYOD1 Gene

GeneCards Summary for MYOD1 Gene

MYOD1 (Myogenic Differentiation 1) is a Protein Coding gene. Diseases associated with MYOD1 include Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies and Myopathy, Centronuclear, 1. Among its related pathways are Notch-mediated HES/HEY network and Spinocerebellar ataxia. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is MYF5.

UniProtKB/Swiss-Prot Summary for MYOD1 Gene

  • Acts as a transcriptional activator that promotes transcription of muscle-specific target genes and plays a role in muscle differentiation. Together with MYF5 and MYOG, co-occupies muscle-specific gene promoter core region during myogenesis. Induces fibroblasts to differentiate into myoblasts. Interacts with and is inhibited by the twist protein. This interaction probably involves the basic domains of both proteins (By similarity).

Gene Wiki entry for MYOD1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MYOD1 Gene

Genomics for MYOD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MYOD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J017718 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 250.7 +0.7 693 4.1 ZIC2 REST CTCF SP2 ZNF2 RAD21 ZSCAN29 GLIS1 ZFX KLF1 MYOD1 LINC02729 ENSG00000254586 piR-31199-047 KCNC1 HSALNG0082964
GH11J017648 Enhancer 0.9 FANTOM5 Ensembl ENCODE 14.4 -68.2 -68227 6.6 ZIC2 CEBPB JUND SOX5 ZNF652 SOX13 CREB1 LINC02729 ENSG00000254586 MYOD1 lnc-USH1C-1 piR-51137-018 HSALNG0082960 OTOG
GH11J017985 Enhancer 1 Ensembl ENCODE dbSUPER 9.9 +266.8 266805 2 JUND CEBPA YY1 CTCF SAP130 TEAD3 CREM SOX5 HNF4A NR2F6 SERGEF MYOD1 SAAL1 HIGD1AP5 lnc-SERGEF-1 RF00994-169 ENSG00000255448 KCNC1
GH11J017812 Enhancer 0.9 Ensembl ENCODE CraniofacialAtlas 9.8 +92.7 92730 4.6 JUND GATA3 FOXA1 RFX1 GLIS1 GATA2 ZNF579 EP300 MYOD1 lnc-MYOD1-8 LOC107984317 KCNC1 lnc-SERGEF-1 SERGEF ENSG00000255448
GH11J017978 Enhancer 0.7 ENCODE 10.7 +259.3 259278 0.2 ZNF654 ATF3 YY1 HOMEZ CTCF CTBP1 RXRA RAD21 SMC3 RARA SERGEF MYOD1 KCNC1 RF00994-169 lnc-SERGEF-1 ENSG00000255448
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYOD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MYOD1

Top Transcription factor binding sites by QIAGEN in the MYOD1 gene promoter:
  • p300
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for MYOD1 Gene

Latest Assembly
chr11:17,719,571-17,722,136
(GRCh38/hg38)
Size:
2,566 bases
Orientation:
Plus strand

Previous Assembly
chr11:17,741,118-17,743,683
(GRCh37/hg19 by Entrez Gene)
Size:
2,566 bases
Orientation:
Plus strand

chr11:17,741,115-17,743,678
(GRCh37/hg19 by Ensembl)
Size:
2,564 bases
Orientation:
Plus strand

Genomic View for MYOD1 Gene

Genes around MYOD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYOD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYOD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYOD1 Gene

Proteins for MYOD1 Gene

  • Protein details for MYOD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15172-MYOD1_HUMAN
    Recommended name:
    Myoblast determination protein 1
    Protein Accession:
    P15172
    Secondary Accessions:
    • O75321

    Protein attributes for MYOD1 Gene

    Size:
    320 amino acids
    Molecular mass:
    34501 Da
    Quaternary structure:
    • Efficient DNA binding requires dimerization with another bHLH protein. Seems to form active heterodimers with ITF-2. Interacts with SUV39H1. Interacts with DDX5. Interacts with CHD2. Interacts with TSC22D3 (By similarity). Interacts with SETD3 (By similarity). Interacts with P-TEFB complex; promotes the transcriptional activity of MYOD1 through its CDK9-mediated phosphorylation (By similarity) (PubMed:12037670). Interacts with CSRP3. Interacts with NUPR1 (By similarity).

neXtProt entry for MYOD1 Gene

Post-translational modifications for MYOD1 Gene

  • Phosphorylated by CDK9. This phosphorylation promotes its function in muscle differentiation.
  • Acetylated by a complex containing EP300 and PCAF. The acetylation is essential to activate target genes. Conversely, its deacetylation by SIRT1 inhibits its function (By similarity).
  • Ubiquitinated on the N-terminus; which is required for proteasomal degradation.
  • Methylation at Lys-104 by EHMT2/G9a inhibits myogenic activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYOD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for MYOD1

No data available for DME Specific Peptides for MYOD1 Gene

Domains & Families for MYOD1 Gene

Gene Families for MYOD1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for MYOD1 Gene

InterPro:
Blocks:
  • Basic helix-loop-helix dimerization domain bHLH
  • Myogenic basic muscle-specific protein

Suggested Antigen Peptide Sequences for MYOD1 Gene

GenScript: Design optimal peptide antigens:
  • Myogenic factor 3 (MYOD1_HUMAN)
genes like me logo Genes that share domains with MYOD1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MYOD1 Gene

Function for MYOD1 Gene

Molecular function for MYOD1 Gene

UniProtKB/Swiss-Prot Function:
Acts as a transcriptional activator that promotes transcription of muscle-specific target genes and plays a role in muscle differentiation. Together with MYF5 and MYOG, co-occupies muscle-specific gene promoter core region during myogenesis. Induces fibroblasts to differentiate into myoblasts. Interacts with and is inhibited by the twist protein. This interaction probably involves the basic domains of both proteins (By similarity).
GENATLAS Biochemistry:
myogenic differentiation 1,transcription activator of muscle specific genes,promoting cell cycle exit by inducing CDKNIA

Phenotypes From GWAS Catalog for MYOD1 Gene

Gene Ontology (GO) - Molecular Function for MYOD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 11076940
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA,IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific TAS,ISA --
GO:0000987 proximal promoter sequence-specific DNA binding IEA --
GO:0001102 RNA polymerase II activating transcription factor binding IEA,ISS --
genes like me logo Genes that share ontologies with MYOD1: view
genes like me logo Genes that share phenotypes with MYOD1: view

Human Phenotype Ontology for MYOD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MYOD1 Gene

MGI Knock Outs for MYOD1:

miRNA for MYOD1 Gene

Transcription Factor Targets for MYOD1 Gene

Selected GeneGlobe predicted Target genes for MYOD1
Targeted motifs for MYOD1 Gene
HOMER Transcription Factor Regulatory Elements motif MYOD1
  • Consensus sequence: AGCAGCTGCTGC Submotif: canonical Cell Type: Myotube GEO ID: GSE21614

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYOD1

No data available for Enzyme Numbers (IUBMB) for MYOD1 Gene

Localization for MYOD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYOD1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYOD1 gene
Compartment Confidence
nucleus 5
plasma membrane 3
extracellular 3
cytoskeleton 3
cytosol 3
mitochondrion 2
endoplasmic reticulum 2
lysosome 2
peroxisome 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MYOD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IEA,ISS --
GO:0000791 euchromatin IEA,ISS --
GO:0005634 nucleus TAS 3175662
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IEA,ISS --
genes like me logo Genes that share ontologies with MYOD1: view

Pathways & Interactions for MYOD1 Gene

genes like me logo Genes that share pathways with MYOD1: view

Pathways by source for MYOD1 Gene

2 GeneGo (Thomson Reuters) pathways for MYOD1 Gene
  • Development Notch Signaling Pathway
  • Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis

Gene Ontology (GO) - Biological Process for MYOD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000381 regulation of alternative mRNA splicing, via spliceosome IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA,IBA 21873635
GO:0006468 protein phosphorylation TAS 3175662
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with MYOD1: view

Drugs & Compounds for MYOD1 Gene

(28) Drugs for MYOD1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(18) Additional Compounds for MYOD1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MYOD1: view

Transcripts for MYOD1 Gene

mRNA/cDNA for MYOD1 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYOD1

Alternative Splicing Database (ASD) splice patterns (SP) for MYOD1 Gene

No ASD Table

Relevant External Links for MYOD1 Gene

GeneLoc Exon Structure for
MYOD1

Expression for MYOD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MYOD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYOD1 Gene

This gene is overexpressed in Muscle - Skeletal (x50.3).

Protein differential expression in normal tissues from HIPED for MYOD1 Gene

This gene is overexpressed in Platelet (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MYOD1 Gene



Protein tissue co-expression partners for MYOD1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MYOD1

SOURCE GeneReport for Unigene cluster for MYOD1 Gene:

Hs.181768

Evidence on tissue expression from TISSUES for MYOD1 Gene

  • Muscle(4.9)
  • Eye(4.3)
  • Nervous system(4)
  • Liver(4)
  • Pancreas(3)
  • Intestine(2.9)
  • Skin(2.7)
  • Kidney(2.5)
  • Heart(2.5)
  • Blood(2.3)
  • Bone(2.2)
  • Thyroid gland(2.2)
  • Bone marrow(2.1)
  • Stomach(2.1)
genes like me logo Genes that share expression patterns with MYOD1: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MYOD1 Gene

Orthologs for MYOD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MYOD1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MYOD1 29 30
  • 99.48 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MYOD1 29 30
  • 89.97 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MYOD1 29 30
  • 88.78 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Myod1 29 16 30
  • 84.49 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Myod1 29
  • 83.96 (n)
Oppossum
(Monodelphis domestica)
Mammalia MYOD1 30
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MYOD1 29 30
  • 72.05 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MYOD1 30
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia myod1 29
  • 70.77 (n)
Zebrafish
(Danio rerio)
Actinopterygii myod1 29 30
  • 66.29 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta nau 30
  • 30 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea hlh-1 30
  • 24 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 15 (a)
OneToMany
Species where no ortholog for MYOD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MYOD1 Gene

ENSEMBL:
Gene Tree for MYOD1 (if available)
TreeFam:
Gene Tree for MYOD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MYOD1: view image
Alliance of Genome Resources:
Additional Orthologs for MYOD1

Paralogs for MYOD1 Gene

Paralogs for MYOD1 Gene

(2) SIMAP similar genes for MYOD1 Gene using alignment to 1 proteins:

  • MYOD1_HUMAN
genes like me logo Genes that share paralogs with MYOD1: view

Variants for MYOD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MYOD1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
816937 Pathogenic: Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies; not provided 17,719,970(+) C/A
NM_002478.5(MYOD1):c.188C>A (p.Ser63Ter)
NONSENSE
976484 Pathogenic: Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies 17,720,968(+) G/T
NM_002478.5(MYOD1):c.697G>T (p.Glu233Ter)
NONSENSE
rs111937819 Benign: not provided 17,719,800(+) A/G
NM_002478.5(MYOD1):c.18A>G (p.Pro6=)
SYNONYMOUS
rs1179926739 Pathogenic: Arthrogryposis multiplex congenita; Myopathy, centronuclear, 1; Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies 17,720,334(+) G/GC
NM_002478.5(MYOD1):c.557dup (p.Arg188fs)
FRAMESHIFT
rs1245658819 Likely Benign: not provided 17,719,845(+) C/T
NM_002478.5(MYOD1):c.63C>T (p.Cys21=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MYOD1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MYOD1 Gene

Variant ID Type Subtype PubMed ID
nsv1040065 CNV gain 25217958
nsv553567 CNV gain 21841781
nsv553588 CNV loss 21841781
nsv825772 CNV gain 20364138

Variation tolerance for MYOD1 Gene

Residual Variation Intolerance Score: 32.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.32; 26.12% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYOD1 Gene

Human Gene Mutation Database (HGMD)
MYOD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYOD1
Leiden Open Variation Database (LOVD)
MYOD1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYOD1 Gene

Disorders for MYOD1 Gene

MalaCards: The human disease database

(70) MalaCards diseases for MYOD1 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search MYOD1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MYOD1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MYOD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MYOD1 Gene

Publications for MYOD1 Gene

  1. Control of muscle development by dueling HATs and HDACs. (PMID: 11532390) McKinsey TA … Olson EN (Current opinion in genetics & development 2001) 3 4 22
  2. Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia. (PMID: 26733463) Watson CM … Smith A (Journal of medical genetics 2016) 3 72
  3. Genomewide linkage and peakwide association analyses of carotid plaque in Caribbean Hispanics. (PMID: 20966410) Dong C … Sacco RL (Stroke 2010) 3 40
  4. MyoD and E-protein heterodimers switch rhabdomyosarcoma cells from an arrested myoblast phase to a differentiated state. (PMID: 19299559) Yang Z … Tapscott SJ (Genes & development 2009) 3 22
  5. The small chromatin-binding protein p8 coordinates the association of anti-proliferative and pro-myogenic proteins at the myogenin promoter. (PMID: 19723804) Sambasivan R … Dhawan J (Journal of cell science 2009) 3 22

Products for MYOD1 Gene

  • Addgene plasmids for MYOD1

Sources for MYOD1 Gene