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Protein

Myoblast determination protein 1

Gene

MYOD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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).By similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, Developmental protein, DNA-binding
Biological processDifferentiation, Myogenesis, Transcription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-375170. CDO in myogenesis.
SignaLinkiP15172.
SIGNORiP15172.

Names & Taxonomyi

Protein namesi
Recommended name:
Myoblast determination protein 1
Alternative name(s):
Class C basic helix-loop-helix protein 1
Short name:
bHLHc1
Myogenic factor 3
Short name:
Myf-3
Gene namesi
Name:MYOD1
Synonyms:BHLHC1, MYF3, MYOD
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000129152.3.
HGNCiHGNC:7611. MYOD1.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi4654.
OpenTargetsiENSG00000129152.
PharmGKBiPA31416.

Polymorphism and mutation databases

BioMutaiMYOD1.
DMDMi209572729.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001273601 – 320Myoblast determination protein 1Add BLAST320

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki1Peptide (Met-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Modified residuei104N6-methyllysine; by EHMT21 Publication1

Post-translational modificationi

Phosphorylated by CDK9. This phosphorylation promotes its function in muscle differentiation.1 Publication
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).By similarity
Ubiquitinated on the N-terminus; which is required for proteasomal degradation.1 Publication
Methylation at Lys-104 by EHMT2/G9a inhibits myogenic activity.1 Publication

Keywords - PTMi

Acetylation, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

PaxDbiP15172.
PeptideAtlasiP15172.
PRIDEiP15172.

PTM databases

iPTMnetiP15172.
PhosphoSitePlusiP15172.

Expressioni

Gene expression databases

BgeeiENSG00000129152.
CleanExiHS_MYOD1.
GenevisibleiP15172. HS.

Organism-specific databases

HPAiHPA051362.

Interactioni

Subunit structurei

Efficient DNA binding requires dimerization with another bHLH protein. Seems to form active heterodimers with ITF-2. Interacts with SUV39H1. Interacts with DDX5. Interacts with CHD2. Interacts with TSC22D3 (By similarity). Interacts with SETD3 (By similarity). Interacts with P-TEFB complex; promotes the transcriptional activity of MYOD1 through its CDK9-mediated phosphorylation (By similarity) (PubMed:12037670). Interacts with CSRP3.By similarity3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
TCF3P15923-12EBI-488878,EBI-769645

GO - Molecular functioni

Protein-protein interaction databases

BioGridi110737. 69 interactors.
CORUMiP15172.
DIPiDIP-704N.
IntActiP15172. 16 interactors.
MINTiMINT-128965.
STRINGi9606.ENSP00000250003.

Structurei

3D structure databases

ProteinModelPortaliP15172.
SMRiP15172.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini109 – 160bHLHPROSITE-ProRule annotationAdd BLAST52

Phylogenomic databases

eggNOGiKOG3960. Eukaryota.
ENOG4111SED. LUCA.
GeneTreeiENSGT00530000063004.
HOGENOMiHOG000234800.
HOVERGENiHBG006429.
InParanoidiP15172.
KOiK09064.
OMAiPNPIYQV.
OrthoDBiEOG091G0GKD.
PhylomeDBiP15172.
TreeFamiTF316344.

Family and domain databases

CDDicd00083. HLH. 1 hit.
Gene3Di4.10.280.10. 1 hit.
InterProiView protein in InterPro
IPR002546. Basic.
IPR011598. bHLH_dom.
IPR036638. HLH_DNA-bd_sf.
IPR022032. Myf5.
PfamiView protein in Pfam
PF01586. Basic. 1 hit.
PF00010. HLH. 1 hit.
PF12232. Myf5. 1 hit.
SMARTiView protein in SMART
SM00520. BASIC. 1 hit.
SM00353. HLH. 1 hit.
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiView protein in PROSITE
PS50888. BHLH. 1 hit.

Sequencei

Sequence statusi: Complete.

P15172-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MELLSPPLRD VDLTAPDGSL CSFATTDDFY DDPCFDSPDL RFFEDLDPRL
60 70 80 90 100
MHVGALLKPE EHSHFPAAVH PAPGAREDEH VRAPSGHHQA GRCLLWACKA
110 120 130 140 150
CKRKTTNADR RKAATMRERR RLSKVNEAFE TLKRCTSSNP NQRLPKVEIL
160 170 180 190 200
RNAIRYIEGL QALLRDQDAA PPGAAAAFYA PGPLPPGRGG EHYSGDSDAS
210 220 230 240 250
SPRSNCSDGM MDYSGPPSGA RRRNCYEGAY YNEAPSEPRP GKSAAVSSLD
260 270 280 290 300
CLSSIVERIS TESPAAPALL LADVPSESPP RRQEAAAPSE GESSGDPTQS
310 320
PDAAPQCPAG ANPNPIYQVL
Length:320
Mass (Da):34,501
Last modified:October 14, 2008 - v3
Checksum:i75E624D2ED5B0B33
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti124K → E in CAA35640 (PubMed:2583111).Curated1
Sequence conflicti177Missing in CAA40000 (PubMed:1850513).Curated1
Sequence conflicti177Missing in CAA35640 (PubMed:2583111).Curated1
Sequence conflicti251C → Y in CAA40000 (PubMed:1850513).Curated1
Sequence conflicti251C → Y in CAA35640 (PubMed:2583111).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_036392262E → K in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_036393309A → V in a breast cancer sample; somatic mutation. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X56677 mRNA. Translation: CAA40000.1.
AF027148 Genomic DNA. Translation: AAC29001.1.
BT007157 mRNA. Translation: AAP35821.1.
CH471064 Genomic DNA. Translation: EAW68427.1.
BC064493 mRNA. Translation: AAH64493.1.
X17650 mRNA. Translation: CAA35640.1.
CCDSiCCDS7826.1.
PIRiS26827.
RefSeqiNP_002469.2. NM_002478.4.
UniGeneiHs.181768.

Genome annotation databases

EnsembliENST00000250003; ENSP00000250003; ENSG00000129152.
GeneIDi4654.
KEGGihsa:4654.
UCSCiuc001mni.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMYOD1_HUMAN
AccessioniPrimary (citable) accession number: P15172
Secondary accession number(s): O75321
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: October 14, 2008
Last modified: October 25, 2017
This is version 181 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot