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MYOD1 myogenic differentiation 1 [ Homo sapiens (human) ]

Gene ID: 4654, updated on 21-Apr-2019

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
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; bHLHc1
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

Genomic context

See MYOD1 in Genome Data Viewer
Location:
11p15.1
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (17719563..17722131)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (17741110..17743678)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene otogelin Neighboring gene uncharacterized LOC102723330 Neighboring gene potassium voltage-gated channel subfamily C member 1 Neighboring gene secretion regulating guanine nucleotide exchange factor Neighboring gene uncharacterized LOC107984317

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific NAS
Non-traceable Author Statement
more info
PubMed 
E-box binding ISS
Inferred from Sequence or Structural Similarity
more info
 
RNA polymerase II regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
chromatin DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
chromatin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
nuclear hormone receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
promoter-specific chromatin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
transcription coactivator activity IEA
Inferred from Electronic Annotation
more info
 
ubiquitin protein ligase binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cellular response to estradiol stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to glucocorticoid stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to oxygen levels IEA
Inferred from Electronic Annotation
more info
 
cellular response to starvation IEA
Inferred from Electronic Annotation
more info
 
cellular response to tumor necrosis factor IEA
Inferred from Electronic Annotation
more info
 
histone H3 acetylation ISS
Inferred from Sequence or Structural Similarity
more info
 
histone H4 acetylation ISS
Inferred from Sequence or Structural Similarity
more info
 
muscle cell fate commitment ISS
Inferred from Sequence or Structural Similarity
more info
 
muscle organ development TAS
Traceable Author Statement
more info
PubMed 
myoblast fate determination IEA
Inferred from Electronic Annotation
more info
 
myoblast fusion IEA
Inferred from Electronic Annotation
more info
 
myotube cell development IDA
Inferred from Direct Assay
more info
PubMed 
myotube differentiation involved in skeletal muscle regeneration IEA
Inferred from Electronic Annotation
more info
 
negative regulation of myoblast proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of muscle cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of muscle cell differentiation TAS
Traceable Author Statement
more info
 
positive regulation of myoblast fusion IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of skeletal muscle tissue regeneration IEA
Inferred from Electronic Annotation
more info
 
positive regulation of snRNA transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
protein phosphorylation TAS
Traceable Author Statement
more info
PubMed 
regulation of RNA splicing IDA
Inferred from Direct Assay
more info
PubMed 
regulation of alternative mRNA splicing, via spliceosome IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
skeletal muscle fiber adaptation IEA
Inferred from Electronic Annotation
more info
 
skeletal muscle fiber development IEA
Inferred from Electronic Annotation
more info
 
skeletal muscle tissue development TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
myofibril IEA
Inferred from Electronic Annotation
more info
 
nuclear body IDA
Inferred from Direct Assay
more info
 
nuclear chromatin ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
transcription factor complex ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
myoblast determination protein 1
Names
class C basic helix-loop-helix protein 1
myf-3
myogenic factor 3

NCBI Reference Sequences (RefSeq)

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)

  1. NM_002478.5NP_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
    P15172
    Related
    ENSP00000250003.3, ENST00000250003.4
    Conserved Domains (3) summary
    smart00520
    Location:19114
    BASIC; Basic domain in HLH proteins of MYOD family
    pfam00010
    Location:110161
    HLH; Helix-loop-helix DNA-binding domain
    pfam12232
    Location:191259
    Myf5; Myogenic determination factor 5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    17719563..17722131
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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