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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]
MYOD1 (Myogenic Differentiation 1) is a Protein Coding gene. Diseases associated with MYOD1 include Myopathy, Centronuclear, 1 and Distal Arthrogryposis. Among its related pathways are Spinocerebellar ataxia and C-MYB transcription factor network. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is MYF5.
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 proximal promoter sequence-specific DNA binding | IEA,IBA | 21873635 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | TAS,ISM | 19274049 |
GO:0000987 | proximal promoter sequence-specific DNA binding | IEA | -- |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IEA,IDA | 11076940 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | IEA,ISS | -- |
GO:0005634 | nucleus | TAS,IBA | 21873635 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005667 | transcription factor complex | IEA,ISS | -- |
GO:0005737 | cytoplasm | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Myogenesis |
1.00
|
1.00
|
2 | Spinocerebellar ataxia | ||
3 | Mesenchymal Stem Cells and Lineage-specific Markers | ||
4 | TGF-beta Signaling Pathways | ||
5 | Developmental Biology |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000381 | regulation of alternative mRNA splicing, via spliceosome | IEA | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IEA,TAS | 1846704 |
GO:0006468 | protein phosphorylation | TAS | 3175662 |
GO:0007275 | multicellular organism development | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MYOD1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MYOD1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MYOD1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Myod1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Myod1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | MYOD1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MYOD1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MYOD1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | myod1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | myod1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | nau 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | hlh-1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
631486 | Pathogenic: Arthrogryposis multiplex congenita; Myopathy, centronuclear, 1 | 17,720,334(+) | G/GC | FRAMESHIFT_VARIANT | |
711460 | Likely Benign: not provided | 17,721,460(+) | G/A | SYNONYMOUS_VARIANT | |
723841 | Benign: not provided | 17,719,800(+) | A/G | SYNONYMOUS_VARIANT | |
723921 | Likely Benign: not provided | 17,719,924(+) | C/A | MISSENSE_VARIANT | |
727915 | Likely Benign: not provided | 17,719,845(+) | C/T | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
myopathy, centronuclear, 1 |
|
|
distal arthrogryposis |
|
|
arthrogryposis, distal, type 1a |
|
|
fetal akinesia deformation sequence 1 |
|
|
pleomorphic rhabdomyosarcoma |
|
|