MYOD1
entrez
4654
canonical
uniprot
P15172
canonical
ensembl
ENSG00000129152
resolver
ensp
ENSP00000250003
resolver
enst
ENST00000250003
resolver
genesymbol
MYOD1
resolver
genesymbol_syn
BHLHC1
resolver
genesymbol_syn
MYF3
resolver
genesymbol_syn
MYOD
resolver
hgnc
HGNC:7611
resolver
uniprot
O75321
resolver
uniprot_entry
MYOD1_HUMAN
resolver
uniprot_sec
O75321
resolver
amino_acid_sequence
MELLSPPLRDVDLTAPDGSLCSFATTDDFYDDPCFDSPDLRFFEDLDPRLMHVGALLKPEEHSHFPAAVHPAPGAREDEHVRAPSGHHQAGRCLLWACKACKRKTTNADRRKAATMRERRRLSKVNEAFETLKRCTSSNPNQRLPKVEILRNAIRYIEGLQALLRDQDAAPPGAAAAFYAPGPLPPGRGGEHYSGDSDASSPRSNCSDGMMDYSGPPSGARRRNCYEGAYYNEAPSEPRPGKSAAVSSLDCLSSIVERISTESPAAPALLLADVPSESPPRRQEAAAPSEGESSGDPTQSPDAAPQCPAGANPNPIYQVL
uniprot
proteins
disease_involvement
DISEASE: Congenital myopathy 17 (CMYO17) [MIM:618975]: An autosomal recessive muscular disorder characterized by hypotonia and respiratory insufficiency apparent soon after birth, high diaphragmatic dome on imaging, poor overall growth, pectus excavatum, dysmorphic facies, and renal anomalies in some affected individuals. Additional variable features include delayed motor development, mildly decreased endurance, distal arthrogryposis, and lung hypoplasia resulting in early death. {ECO:0000269|PubMed:26733463, ECO:0000269|PubMed:30403323, ECO:0000269|PubMed:31260566}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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). {ECO:0000250}.
uniprot
proteins
mass_dalton
34501
uniprot
proteins
post_translational_modification
PTM: Phosphorylated by CDK9. This phosphorylation promotes its function in muscle differentiation. {ECO:0000269|PubMed:12037670}.; PTM: 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). {ECO:0000250}.; PTM: Ubiquitinated on the N-terminus; which is required for proteasomal degradation. {ECO:0000269|PubMed:9774340}.; PTM: Methylation at Lys-104 by EHMT2/G9a inhibits myogenic activity. {ECO:0000269|PubMed:22215600}.
uniprot
proteins
pubmed
11532390
uniprot
proteins
pubmed
12037670
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16858404
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
1850513
uniprot
proteins
pubmed
22215600
uniprot
proteins
pubmed
24860983
uniprot
proteins
pubmed
2583111
uniprot
proteins
pubmed
26733463
uniprot
proteins
pubmed
30403323
uniprot
proteins
pubmed
31260566
uniprot
proteins
pubmed
9546368
uniprot
proteins
pubmed
9774340
uniprot
proteins
sequence_length
320
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins