MYOD1
Myoblast determination protein 1
Also known as: bHLHc1, MYF3, MYOD, MYOD1_HUMAN, PUM
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P15172
- Gene
- MYOD1
- Ensembl
- ENSG00000129152
- Chromosome
- 11
- Canonical length
- 320 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
320 residues, UniProt reviewed canonical sequence.
>P15172|MYOD1
1 MELLSPPLRD VDLTAPDGSL CSFATTDDFY DDPCFDSPDL RFFEDLDPRL MHVGALLKPE
61 EHSHFPAAVH PAPGAREDEH VRAPSGHHQA GRCLLWACKA CKRKTTNADR RKAATMRERR
121 RLSKVNEAFE TLKRCTSSNP NQRLPKVEIL RNAIRYIEGL QALLRDQDAA PPGAAAAFYA
181 PGPLPPGRGG EHYSGDSDAS SPRSNCSDGM MDYSGPPSGA RRRNCYEGAY YNEAPSEPRP
241 GKSAAVSSLD CLSSIVERIS TESPAAPALL LADVPSESPP RRQEAAAPSE GESSGDPTQS
301 PDAAPQCPAG ANPNPIYQVLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MYOD1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.63
- Highest tissue expression
- 34 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 34 nTPM
- tongue: 3.5 nTPM
- prostate: 0.6 nTPM
- salivary gland: 0.5 nTPM
- testis: 0.3 nTPM
- placenta: 0.2 nTPM
Single-cell type
- myosatellite cells: 40 nCPM
- myonuclei: 17 nCPM
- thymic myoid cells: 11 nCPM
- differentiating spermatogonia: 2.7 nCPM
- early primary spermatocytes: 2.1 nCPM
- undifferentiated spermatogonia: 1.8 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebellum: 0.5 nTPM
- basal ganglia: 0.4 nTPM
- cerebral cortex: 0.4 nTPM
- hypothalamus: 0.4 nTPM
- amygdala: 0.3 nTPM
- hippocampal formation: 0.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about MYOD1.
Disease | AllUniProt
Conditions MYOD1 is implicated in, by any mechanism.
- Congenital myopathy 17 (CMYO17) MIM:618975
Disease | GeneticClinVar
5 pathogenic / likely-pathogenic of 79 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies
- Autosomal dominant centronuclear myopathy
- Arthrogryposis multiplex congenita
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.05
- gnomAD pLI
- 0.15
- gnomAD missense Z
- -0.39
- DepMap mean gene effect
- -0.01
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular response to estradiol stimulus
- cellular response to glucocorticoid stimulus
- cellular response to oxygen levels
- cellular response to starvation
- cellular response to tumor necrosis factor
- muscle cell fate commitment
- muscle organ development
- myoblast fate determination
- myoblast fusion
- myotube cell development
- myotube differentiation involved in skeletal muscle regeneration
- negative regulation of myoblast proliferation
- positive regulation of muscle cell differentiation
- positive regulation of myoblast differentiation
- positive regulation of myoblast fusion
- positive regulation of skeletal muscle fiber development
- positive regulation of skeletal muscle tissue regeneration
- positive regulation of snRNA transcription by RNA polymerase II
- positive regulation of transcription by RNA polymerase II
- regulation of alternative mRNA splicing, via spliceosome
- regulation of RNA splicing
- regulation of transcription by RNA polymerase II
- skeletal muscle cell differentiation
- skeletal muscle fiber adaptation
- skeletal muscle fiber development
- skeletal muscle tissue development
- transcription by RNA polymerase II
Molecular functions
- bHLH transcription factor binding
- chromatin binding
- chromatin DNA binding
- DNA-binding transcription activator activity
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity, RNA polymerase II-specific
- E-box binding
- nuclear receptor binding
- promoter-specific chromatin binding
- protein homodimerization activity
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding
- RNA polymerase II-specific DNA-binding transcription factor binding
- sequence-specific double-stranded DNA binding
- ubiquitin protein ligase binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MYOD1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MYOD1 as an antibody target. Whether an autoantibody or antibody against MYOD1 could matter depends on whether native MYOD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MYOD1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label MYOD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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