MYOD1 myogenic differentiation 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYOD1provided by HGNC
Official Full Name: myogenic differentiation 1provided by HGNC
Primary source: HGNC:HGNC:7611
See related: Ensembl:ENSG00000129152 MIM:159970; AllianceGenome:HGNC:7611
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PUM; MYF3; MYOD; CMYP17; bHLHc1; MYODRIF
Summary: 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]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 11p15.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (17719571..17722136)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (17817261..17819826)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (17741118..17743683)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MYOD-SKP2 axis boosts tumorigenesis in fusion negative rhabdomyosarcoma by preventing differentiation through p57[Kip2] targeting.
Title: MYOD-SKP2 axis boosts tumorigenesis in fusion negative rhabdomyosarcoma by preventing differentiation through p57(Kip2) targeting.
MYOD1 as a prognostic indicator in rhabdomyosarcoma.
Title: MYOD1 as a prognostic indicator in rhabdomyosarcoma.
Functional impact and targetability of PI3KCA, GNAS, and PTEN mutations in a spindle cell rhabdomyosarcoma with MYOD1 L122R mutation.
Title: Functional impact and targetability of PI3KCA, GNAS, and PTEN mutations in a spindle cell rhabdomyosarcoma with MYOD1 L122R mutation.
The nuclear import of the transcription factor MyoD is reduced in mesenchymal stem cells grown in a 3D micro-engineered niche.
Title: The nuclear import of the transcription factor MyoD is reduced in mesenchymal stem cells grown in a 3D micro-engineered niche.
MyoD1 suppresses cell migration and invasion by inhibiting FUT4 transcription in human gastric cancer cells.
Title: MyoD1 suppresses cell migration and invasion by inhibiting FUT4 transcription in human gastric cancer cells.
Interaction between SNAI2 and MYOD enhances oncogenesis and suppresses differentiation in Fusion Negative Rhabdomyosarcoma.
Title: Interaction between SNAI2 and MYOD enhances oncogenesis and suppresses differentiation in Fusion Negative Rhabdomyosarcoma.
MyoD1 expression in fibroepithelial stromal polyps.
Title: MyoD1 expression in fibroepithelial stromal polyps.
Dual-specificity phosphatase 29 is induced during neurogenic skeletal muscle atrophy and attenuates glucocorticoid receptor activity in muscle cell culture.
Title: Dual-specificity phosphatase 29 is induced during neurogenic skeletal muscle atrophy and attenuates glucocorticoid receptor activity in muscle cell culture.
A range of epigenetic modifications in the Myod upstream region also play a part in activating and repressing Myod expression during development and regeneration. Here the evidence for this binding at Myod control regions is summarized, giving an overview of our current understanding of Myod expression regulation in mammals.
Title: Master control: transcriptional regulation of mammalian Myod.
CASZ1 up-regulates MYOD signature genes and induces skeletal muscle differentiation in normal myoblasts and Embryonal rhabdomyosarcoma.
Title: CASZ1 induces skeletal muscle and rhabdomyosarcoma differentiation through a feed-forward loop with MYOD and MYOG.

Submit: New GeneRIF Correction See all GeneRIFs (77)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies MedGen: C5436530 OMIM: 618975 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MYOD1_2535 (e-PCR)
- UniSTS:280862

MYOD1 (e-PCR), detects polymorphism
- UniSTS:44086

GDB:197900 (e-PCR)
- UniSTS:155993

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables E-box binding	ISS Inferred from Sequence or Structural Similarity more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II-specific DNA-binding transcription factor binding	ISS Inferred from Sequence or Structural Similarity more info
enables bHLH transcription factor binding	IEA Inferred from Electronic Annotation more info
enables chromatin DNA binding	IEA Inferred from Electronic Annotation more info
enables chromatin binding	ISS Inferred from Sequence or Structural Similarity more info
enables nuclear receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables promoter-specific chromatin binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin protein ligase binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cellular response to estradiol stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to glucocorticoid stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to oxygen levels	IEA Inferred from Electronic Annotation more info
involved_in cellular response to starvation	IEA Inferred from Electronic Annotation more info
involved_in cellular response to tumor necrosis factor	IEA Inferred from Electronic Annotation more info
involved_in muscle cell fate commitment	ISS Inferred from Sequence or Structural Similarity more info
involved_in muscle organ development	TAS Traceable Author Statement more info	PubMed
involved_in myoblast fate determination	IEA Inferred from Electronic Annotation more info
involved_in myoblast fusion	IEA Inferred from Electronic Annotation more info
involved_in myotube cell development	IDA Inferred from Direct Assay more info	PubMed
involved_in myotube differentiation involved in skeletal muscle regeneration	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of myoblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of muscle cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of myoblast differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of myoblast fusion	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of skeletal muscle fiber development	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of skeletal muscle tissue regeneration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of snRNA transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein phosphorylation	TAS Traceable Author Statement more info	PubMed
involved_in regulation of RNA splicing	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of alternative mRNA splicing, via spliceosome	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in skeletal muscle cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in skeletal muscle fiber adaptation	IEA Inferred from Electronic Annotation more info
involved_in skeletal muscle fiber development	IEA Inferred from Electronic Annotation more info
involved_in skeletal muscle tissue development	TAS Traceable Author Statement more info	PubMed
involved_in transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of chromatin	ISA Inferred from Sequence Alignment more info
part_of chromatin	ISS Inferred from Sequence or Structural Similarity more info
part_of euchromatin	ISS Inferred from Sequence or Structural Similarity more info
located_in myofibril	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	TAS Traceable Author Statement more info	PubMed
part_of transcription regulator complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: myoblast determination protein 1

Names: class C basic helix-loop-helix protein 1; myf-3; myogenic factor 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_002478.5 → NP_002469.2 myoblast determination protein 1

See identical proteins and their annotated locations for NP_002469.2

Status: REVIEWED

Source sequence(s)

AC124301, AI300241, BF205042, BF304059

Consensus CDS

CCDS7826.1

UniProtKB/Swiss-Prot

O75321, P15172

UniProtKB/TrEMBL

B2RC72

Related

ENSP00000250003.3, ENST00000250003.4

Conserved Domains (3) summary

smart00520
Location:19 → 114

BASIC; Basic domain in HLH proteins of MYOD family

cd18936
Location:105 → 165

bHLH_TS_MYOD1_Myf3; basic helix-loop-helix (bHLH) domain found in myoblast determination protein 1 (MYOD1) and similar proteins

pfam12232
Location:191 → 259

Myf5; Myogenic determination factor 5