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MYOD1 Gene(Protein Coding)

Myogenic Differentiation 1

GCID:
GC11P017741
GIFtS:
67
Genes Participants
UDN Logo

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
  • BHLHc1 3 4
  • Myf-3 3 4
  • MYF3 3 4
  • MYOD 3 4
  • Myoblast Determination Protein 1 2
  • 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 Spindle Cell Rhabdomyosarcoma and Embryonal Rhabdomyosarcoma. Among its related pathways are Developmental Biology and Id Signaling Pathway. 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 MYF6.

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

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

Genomics for MYOD1 Gene

Products:

  1. Regulatory Element

Regulatory Elements for MYOD1 Gene

Enhancers for MYOD1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MYOD1 on UCSC Golden Path with GeneCards custom track

Promoters for MYOD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MYOD1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the MYOD1 gene promoter:

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 Structure • Gene Density

RefSeq DNA sequence for MYOD1 Gene

Proteins for MYOD1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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).

neXtProt entry for MYOD1 Gene

Proteomics data for MYOD1 Gene at MOPED

Protein Expression for MYOD1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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:

Protein Domains for MYOD1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for MYOD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P15172

UniProtKB/Swiss-Prot:

MYOD1_HUMAN :
  • Contains 1 bHLH (basic helix-loop-helix) domain.
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.
genes like me logo Genes that share domains with MYOD1: view

Function for MYOD1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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:0003700 transcription factor activity, sequence-specific DNA binding IEA --
GO:0003713 transcription coactivator activity TAS 1846704
GO:0005515 protein binding IEA,IPI 10915743
GO:0008134 transcription factor binding IEA --
genes like me logo Genes that share ontologies with MYOD1: view

Phenotypes for MYOD1 Gene

MGI mutant phenotypes for MYOD1:
inferred from 9 alleles
GenomeRNAi human phenotypes for MYOD1:
genes like me logo Genes that share phenotypes with MYOD1: view

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

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) and Human Phenotype Ontology for MYOD1 Gene

Localization for MYOD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYOD1 Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MYOD1 Gene COMPARTMENTS Subcellular localization image for MYOD1 gene
Compartment Confidence
nucleus 5
cytoskeleton 3
cytosol 2
extracellular 2
plasma membrane 2
endoplasmic reticulum 1
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for MYOD1 Gene

Pathways & Interactions for MYOD1 Gene

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

SIGNOR curated interactions for MYOD1 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for MYOD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006468 protein phosphorylation TAS 3175662
GO:0007517 muscle organ development IEA,TAS 1846704
GO:0007519 skeletal muscle tissue development IEA,TAS 3175662
GO:0007520 myoblast fusion IEA --
genes like me logo Genes that share ontologies with MYOD1: view

Drugs & Compounds for MYOD1 Gene

Products:

  1. Drug

(24) Drugs for MYOD1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(22) 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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

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

Flow Cytometry Products

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

Products:

  1. Primer

mRNA expression in normal human tissues for MYOD1 Gene

mRNA expression in normal human tissues for MYOD1 Gene
mRNA expression by BioGPS for MYOD1 GenemRNA expression by GTEx 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



SOURCE GeneReport for Unigene cluster for MYOD1 Gene Hs.181768

genes like me logo Genes that share expression patterns with MYOD1: view

Protein tissue co-expression partners for MYOD1 Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
 Mammalia MYOD1 35
  • 88.78 (n)
  • 92.14 (a)
MYOD1 36
  • 92 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia MYOD1 35
  • 89.97 (n)
  • 93.1 (a)
MYOD1 36
  • 93 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Myod1 35
  • 84.49 (n)
  • 87.74 (a)
Myod1 16
Myod1 36
  • 89 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia MYOD1 35
  • 99.48 (n)
  • 99.37 (a)
MYOD1 36
  • 99 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Myod1 35
  • 83.96 (n)
  • 86.79 (a)
oppossum
(Monodelphis domestica)
 Mammalia MYOD1 36
  • 74 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves MYOD1 35
  • 72.05 (n)
  • 68.73 (a)
MYOD1 36
  • 70 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia MYOD1 36
  • 69 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia myod1 35
  • 70.77 (n)
  • 72.89 (a)
zebrafish
(Danio rerio)
 Actinopterygii myod1 35
  • 66.29 (n)
  • 69.58 (a)
myod1 36
  • 68 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta nau 36
  • 30 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea hlh-1 36
  • 24 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 36
  • 15 (a)
 OneToMany
Species with no ortholog for MYOD1:
  • 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
rs1042804 -- 17,721,613(+) AAGCG(A/C)CATCT utr-variant-3-prime
rs1042805 -- 17,721,664(+) CGCCC(C/G)ACAGG utr-variant-3-prime
rs1042806 -- 17,722,035(+) AGGCA(G/T)GGTGT utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for MYOD1 Gene

Disorders for MYOD1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
spindle cell rhabdomyosarcoma
embryonal rhabdomyosarcoma
  • botryoid rhabdomyosarcoma
rhabdomyosarcoma
undifferentiated embryonal sarcoma of the liver
  • embryonal sarcoma of the liver
skeletal muscle cancer
  • malignant tumor of skeletal muscle
- 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. Control of muscle development by dueling HATs and HDACs. (PMID: 11532390) McKinsey T.A. … Olson E.N. (Curr. Opin. Genet. Dev. 2001) 3 4 67
  2. MyoD and E-protein heterodimers switch rhabdomyosarcoma cells from an arrested myoblast phase to a differentiated state. (PMID: 19299559) Yang Z. … Tapscott S.J. (Genes Dev. 2009) 3 23
  3. Estrogen receptor (ER) beta or p53 attenuates ERalpha-mediated transcriptional activation on the BRCA2 promoter. (PMID: 18765668) Jin W. … Shao Z.M. (J. Biol. Chem. 2008) 3 23
  4. Degradation of MyoD mediated by the SCF (MAFbx) ubiquitin ligase. (PMID: 15531760) Tintignac L.A. … Leibovitch S.A. (J. Biol. Chem. 2005) 3 23
  5. Coactivation of nuclear receptors and myogenic factors induces the major BTG1 influence on muscle differentiation. (PMID: 15674337) Busson M. … Cabello G. (Oncogene 2005) 3 23

Products for MYOD1 Gene

  • Addgene plasmids for MYOD1

Sources for MYOD1 Gene

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