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Aliases for MYOD1 Gene

Aliases for MYOD1 Gene

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

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]

GeneCards Summary for MYOD1 Gene

MYOD1 (Myogenic Differentiation 1) is a Protein Coding gene. Diseases associated with MYOD1 include Pleomorphic Rhabdomyosarcoma and Skeletal Muscle Regeneration. Among its related pathways are Signaling events mediated by HDAC Class III and Immune response Function of MEF2 in T lymphocytes. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein heterodimerization activity. An important paralog of this gene is MYF5.

UniProtKB/Swiss-Prot 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

Additional gene information for MYOD1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYOD1 Gene

Genomics for MYOD1 Gene

Regulatory Elements for MYOD1 Gene

Enhancers for MYOD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H017648 0.9 FANTOM5 ENCODE 14.4 -68.2 -68219 6 SOX5 SOX13 JUN CEBPB E2F4 ZIC2 JUND GATA3 LOC102723330 ENSG00000254586 MYOD1 GC11M017461
GH11H017985 1.1 ENCODE dbSUPER 9.9 +266.8 266790 1 ELF3 SOX13 CTCF SAP130 CEBPG ZNF644 ZNF7 TEAD3 FOS NR2F6 SERGEF MYOD1 SAAL1 HIGD1AP5 GC11P017952
GH11H017978 0.8 ENCODE 10.7 +259.3 259286 0 CTCF ESRRA ARID4B MAX RAD21 RARA YY1 CTBP1 GATA3 SMC3 SERGEF MYOD1 KCNC1 GC11P017952
GH11H017812 0.5 ENCODE 9.8 +93.2 93166 0 GATA3 JUND GLIS1 FOXA1 MYOD1 GC11P017794 GC11M017875
GH11H017972 0.5 ENCODE 9.7 +253.5 253522 0 CTCF ZNF654 SMC3 FOS RAD21 SERGEF MYOD1 GC11P017952
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MYOD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for MYOD1 Gene

Chromosome:
11
Start:
17,719,563 bp from pter
End:
17,722,131 bp from pter
Size:
2,569 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.

neXtProt entry for MYOD1 Gene

Post-translational modifications for MYOD1 Gene

  • 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).
  • Methylation at Lys-104 by EHMT2/G9a inhibits myogenic activity.
  • Phosphorylated by CDK9. This phosphorylation promotes its function in muscle differentiation.
  • Ubiquitinated on the N-terminus; which is required for proteasomal degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYOD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for MYOD1 (MyoD)

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

Suggested Antigen Peptide Sequences for MYOD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

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

Function for MYOD1 Gene

Molecular function for MYOD1 Gene

GENATLAS Biochemistry:
myogenic differentiation 1,transcription activator of muscle specific genes,promoting cell cycle exit by inducing CDKNIA
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).

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 core promoter proximal region sequence-specific DNA binding IEA,IBA --
GO:0001047 core promoter binding ISS,IEA --
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding IDA,IEA 11076940
GO:0003677 DNA binding IEA --
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:

Animal Model Products

CRISPR Products

miRNA for MYOD1 Gene

miRTarBase miRNAs that target MYOD1

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 RNA Products

Clone Products

  • Addgene plasmids for MYOD1
  • Applied Biological Materials Clones for MYOD1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) and Phenotypes From GWAS Catalog 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
cytosol 5
cytoskeleton 3
plasma membrane 2
extracellular 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
  • Nucleoplasm (3)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MYOD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IEA,ISS --
GO:0005634 nucleus TAS 3175662
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IEA,ISS --
GO:0005737 cytoplasm IEA --
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

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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IEA,TAS 1846704
GO:0006366 transcription from RNA polymerase II promoter 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 :
(5) Additional mRNA sequences :
(86) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MYOD1 Gene

Myogenic differentiation 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MYOD1
  • Applied Biological Materials Clones for MYOD1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for MYOD1 Gene

GeneLoc Exon Structure for
MYOD1
ECgene alternative splicing isoforms for
MYOD1

Expression for MYOD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for MYOD1 Gene



Protein tissue co-expression partners for MYOD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MYOD1 Gene:

MYOD1

SOURCE GeneReport for Unigene cluster for MYOD1 Gene:

Hs.181768

Evidence on tissue expression from TISSUES for MYOD1 Gene

  • Muscle(4.9)
  • Eye(4.1)
  • Nervous system(3.8)
  • Liver(3.7)
  • Intestine(2.1)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with MYOD1: view

Primer Products

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 33 34
  • 99.48 (n)
dog
(Canis familiaris)
Mammalia MYOD1 33 34
  • 89.97 (n)
cow
(Bos Taurus)
Mammalia MYOD1 34 33
  • 88.78 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Myod1 16 34 33
  • 84.49 (n)
rat
(Rattus norvegicus)
Mammalia Myod1 33
  • 83.96 (n)
oppossum
(Monodelphis domestica)
Mammalia MYOD1 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYOD1 34 33
  • 72.05 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYOD1 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia myod1 33
  • 70.77 (n)
zebrafish
(Danio rerio)
Actinopterygii myod1 33 34
  • 66.29 (n)
fruit fly
(Drosophila melanogaster)
Insecta nau 34
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hlh-1 34
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 15 (a)
OneToMany
Species where no ortholog for MYOD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for MYOD1 Gene

Paralogs for MYOD1 Gene

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

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

Variants for MYOD1 Gene

Sequence variations from dbSNP and Humsavar for MYOD1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_036392 A breast cancer sample
VAR_036393 A breast cancer sample
rs1000948922 -- 17,721,858(+) TTTGG(C/G)GGGGC utr-variant-3-prime
rs1001100220 -- 17,721,836(+) CTGCC(C/T)CGGGA utr-variant-3-prime
rs1001125149 -- 17,722,063(+) TTGTA(C/T)GTTTA utr-variant-3-prime

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)

Relevant External Links for MYOD1 Gene

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

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

Disorders for MYOD1 Gene

MalaCards: The human disease database

(46) MalaCards diseases for MYOD1 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pleomorphic rhabdomyosarcoma
  • anaplastic rhabdomyosarcoma
skeletal muscle regeneration
  • nonaka myopathy
spindle cell rhabdomyosarcoma
skeletal muscle cancer
  • malignant tumor of skeletal muscle
botryoid rhabdomyosarcoma
  • botryoid sarcoma
- elite association - COSMIC cancer census association via MalaCards
Search MYOD1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MYOD1

Genetic Association Database (GAD)
MYOD1
Human Genome Epidemiology (HuGE) Navigator
MYOD1
Tumor Gene Database (TGDB):
MYOD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYOD1
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. Genomewide linkage and peakwide association analyses of carotid plaque in Caribbean Hispanics. (PMID: 20966410) Dong C … Sacco RL (Stroke 2010) 3 45 60
  2. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PMID: 19453261) Yerges LM … MrOS Research Group (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2009) 3 45 60
  3. 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 60
  4. Estrogen receptor (ER) beta or p53 attenuates ERalpha-mediated transcriptional activation on the BRCA2 promoter. (PMID: 18765668) Jin W … Shao ZM (The Journal of biological chemistry 2008) 3 22 60
  5. Histone methyltransferase Suv39h1 represses MyoD-stimulated myogenic differentiation. (PMID: 16858404) Mal AK (The EMBO journal 2006) 3 4 60

Products for MYOD1 Gene

  • Addgene plasmids for MYOD1

Sources for MYOD1 Gene

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