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P15172

- MYOD1_HUMAN

UniProt

P15172 - MYOD1_HUMAN

Protein

Myoblast determination protein 1

Gene

MYOD1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 153 (01 Oct 2014)
      Sequence version 3 (14 Oct 2008)
      Previous versions | rss
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    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

    1. chromatin DNA binding Source: UniProtKB
    2. core promoter binding Source: UniProtKB
    3. E-box binding Source: BHF-UCL
    4. nuclear hormone receptor binding Source: UniProtKB
    5. protein binding Source: UniProtKB
    6. protein heterodimerization activity Source: BHF-UCL
    7. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: ProtInc
    8. RNA polymerase II regulatory region sequence-specific DNA binding Source: NTNU_SB
    9. RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: NTNU_SB
    10. transcription coactivator activity Source: ProtInc

    GO - Biological processi

    1. cellular response to estradiol stimulus Source: UniProtKB
    2. cellular response to glucocorticoid stimulus Source: Ensembl
    3. cellular response to oxygen levels Source: Ensembl
    4. cellular response to starvation Source: Ensembl
    5. histone H3 acetylation Source: UniProtKB
    6. histone H4 acetylation Source: UniProtKB
    7. muscle cell differentiation Source: Reactome
    8. muscle cell fate commitment Source: BHF-UCL
    9. muscle organ development Source: ProtInc
    10. myoblast fate determination Source: Ensembl
    11. myotube cell development Source: BHF-UCL
    12. myotube differentiation involved in skeletal muscle regeneration Source: Ensembl
    13. positive regulation of muscle cell differentiation Source: BHF-UCL
    14. positive regulation of myoblast fusion Source: BHF-UCL
    15. positive regulation of skeletal muscle tissue regeneration Source: Ensembl
    16. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    17. protein phosphorylation Source: ProtInc
    18. regulation of alternative mRNA splicing, via spliceosome Source: Ensembl
    19. regulation of RNA splicing Source: BHF-UCL
    20. regulation of transcription from RNA polymerase II promoter Source: ProtInc
    21. skeletal muscle fiber adaptation Source: Ensembl
    22. skeletal muscle fiber development Source: Ensembl
    23. skeletal muscle tissue development Source: ProtInc
    24. transcription from RNA polymerase II promoter Source: GOC

    Keywords - Molecular functioni

    Activator, Developmental protein

    Keywords - Biological processi

    Differentiation, Myogenesis, Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    ReactomeiREACT_21402. CDO in myogenesis.
    SignaLinkiP15172.

    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
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:7611. MYOD1.

    Subcellular locationi

    GO - Cellular componenti

    1. myofibril Source: Ensembl
    2. nuclear chromatin Source: BHF-UCL
    3. nucleoplasm Source: Reactome
    4. nucleus Source: ProtInc
    5. transcription factor complex Source: BHF-UCL

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA31416.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 320320Myoblast determination protein 1PRO_0000127360Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Cross-linki1 – 1Peptide (Met-Gly) (interchain with G-Cter in ubiquitin)1 Publication
    Modified residuei104 – 1041N6-methyllysine; by EHMT21 Publication

    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.
    PRIDEiP15172.

    PTM databases

    PhosphoSiteiP15172.

    Expressioni

    Gene expression databases

    BgeeiP15172.
    CleanExiHS_MYOD1.
    GenevestigatoriP15172.

    Organism-specific databases

    HPAiCAB002511.
    HPA051362.

    Interactioni

    Subunit structurei

    Efficient DNA binding requires dimerization with another bHLH protein. Seems to form active heterodimers with ITF-2. Interacts with SUV39H1 and CDK9. Interacts with DDX5. Interacts with CHD2. Interacts with TSC22D3 By similarity.By similarity

    Binary interactionsi

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

    Protein-protein interaction databases

    BioGridi110737. 67 interactions.
    DIPiDIP-704N.
    IntActiP15172. 10 interactions.
    MINTiMINT-128965.
    STRINGi9606.ENSP00000250003.

    Structurei

    3D structure databases

    ProteinModelPortaliP15172.
    SMRiP15172. Positions 102-166.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini109 – 16052bHLHPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG292792.
    HOGENOMiHOG000234800.
    HOVERGENiHBG006429.
    InParanoidiP15172.
    KOiK09064.
    OMAiRISTDSP.
    OrthoDBiEOG76QFK1.
    PhylomeDBiP15172.
    TreeFamiTF316344.

    Family and domain databases

    Gene3Di4.10.280.10. 1 hit.
    InterProiIPR002546. Basic.
    IPR011598. bHLH_dom.
    IPR022032. Myf5.
    [Graphical view]
    PfamiPF01586. Basic. 1 hit.
    PF00010. HLH. 1 hit.
    PF12232. Myf5. 1 hit.
    [Graphical view]
    SMARTiSM00520. BASIC. 1 hit.
    SM00353. HLH. 1 hit.
    [Graphical view]
    SUPFAMiSSF47459. SSF47459. 1 hit.
    PROSITEiPS50888. BHLH. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P15172-1 [UniParc]FASTAAdd to Basket

    « Hide

    MELLSPPLRD VDLTAPDGSL CSFATTDDFY DDPCFDSPDL RFFEDLDPRL    50
    MHVGALLKPE EHSHFPAAVH PAPGAREDEH VRAPSGHHQA GRCLLWACKA 100
    CKRKTTNADR RKAATMRERR RLSKVNEAFE TLKRCTSSNP NQRLPKVEIL 150
    RNAIRYIEGL QALLRDQDAA PPGAAAAFYA PGPLPPGRGG EHYSGDSDAS 200
    SPRSNCSDGM MDYSGPPSGA RRRNCYEGAY YNEAPSEPRP GKSAAVSSLD 250
    CLSSIVERIS TESPAAPALL LADVPSESPP RRQEAAAPSE GESSGDPTQS 300
    PDAAPQCPAG ANPNPIYQVL 320
    Length:320
    Mass (Da):34,501
    Last modified:October 14, 2008 - v3
    Checksum:i75E624D2ED5B0B33
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti124 – 1241K → E in CAA35640. (PubMed:2583111)Curated
    Sequence conflicti177 – 1771Missing in CAA40000. (PubMed:1850513)Curated
    Sequence conflicti177 – 1771Missing in CAA35640. (PubMed:2583111)Curated
    Sequence conflicti251 – 2511C → Y in CAA40000. (PubMed:1850513)Curated
    Sequence conflicti251 – 2511C → Y in CAA35640. (PubMed:2583111)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti262 – 2621E → K in a breast cancer sample; somatic mutation. 1 Publication
    VAR_036392
    Natural varianti309 – 3091A → V in a breast cancer sample; somatic mutation. 1 Publication
    VAR_036393

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.3. human.

    Polymorphism databases

    DMDMi209572729.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Wikipedia

    MyoD entry

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS7826.1.
    PIRi S26827.
    RefSeqi NP_002469.2. NM_002478.4.
    UniGenei Hs.181768.

    3D structure databases

    ProteinModelPortali P15172.
    SMRi P15172. Positions 102-166.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110737. 67 interactions.
    DIPi DIP-704N.
    IntActi P15172. 10 interactions.
    MINTi MINT-128965.
    STRINGi 9606.ENSP00000250003.

    PTM databases

    PhosphoSitei P15172.

    Polymorphism databases

    DMDMi 209572729.

    Proteomic databases

    PaxDbi P15172.
    PRIDEi P15172.

    Protocols and materials databases

    DNASUi 4654.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000250003 ; ENSP00000250003 ; ENSG00000129152 .
    GeneIDi 4654.
    KEGGi hsa:4654.
    UCSCi uc001mni.3. human.

    Organism-specific databases

    CTDi 4654.
    GeneCardsi GC11P017741.
    H-InvDB HIX0035989.
    HGNCi HGNC:7611. MYOD1.
    HPAi CAB002511.
    HPA051362.
    MIMi 159970. gene.
    neXtProti NX_P15172.
    PharmGKBi PA31416.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG292792.
    HOGENOMi HOG000234800.
    HOVERGENi HBG006429.
    InParanoidi P15172.
    KOi K09064.
    OMAi RISTDSP.
    OrthoDBi EOG76QFK1.
    PhylomeDBi P15172.
    TreeFami TF316344.

    Enzyme and pathway databases

    Reactomei REACT_21402. CDO in myogenesis.
    SignaLinki P15172.

    Miscellaneous databases

    GeneWikii MyoD.
    GenomeRNAii 4654.
    NextBioi 17940.
    PROi P15172.
    SOURCEi Search...

    Gene expression databases

    Bgeei P15172.
    CleanExi HS_MYOD1.
    Genevestigatori P15172.

    Family and domain databases

    Gene3Di 4.10.280.10. 1 hit.
    InterProi IPR002546. Basic.
    IPR011598. bHLH_dom.
    IPR022032. Myf5.
    [Graphical view ]
    Pfami PF01586. Basic. 1 hit.
    PF00010. HLH. 1 hit.
    PF12232. Myf5. 1 hit.
    [Graphical view ]
    SMARTi SM00520. BASIC. 1 hit.
    SM00353. HLH. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47459. SSF47459. 1 hit.
    PROSITEi PS50888. BHLH. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Human MyoD: cDNA and deduced amino acid sequence."
      Pearson-White S.H.
      Nucleic Acids Res. 19:1148-1148(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "Methylation alterations of the MyoD1 upstream region are predictive of subclassification of human rhabdomyosarcomas."
      Chen B., Dias P., Jenkins J.J. III, Savell V.H., Parham D.M.
      Am. J. Pathol. 152:1071-1079(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Muscle.
    6. "Differential expression of myogenic determination genes in muscle cells: possible autoactivation by the Myf gene products."
      Braun T., Bober E., Buschhausen-Denker G., Kohtz S., Grzeschik K.-H., Arnold H.H.
      EMBO J. 8:3617-3625(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 53-320.
      Tissue: Skeletal muscle.
    7. "A novel site for ubiquitination: the N-terminal residue, and not internal lysines of MyoD, is essential for conjugation and degradation of the protein."
      Breitschopf K., Bengal E., Ziv T., Admon A., Ciechanover A.
      EMBO J. 17:5964-5973(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: UBIQUITINATION AT MET-1.
    8. "Control of muscle development by dueling HATs and HDACs."
      McKinsey T.A., Zhang C.L., Olson E.N.
      Curr. Opin. Genet. Dev. 11:497-504(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW ON ACETYLATION/DEACETYLATION.
    9. Cited for: PHOSPHORYLATION BY CDK9, INTERACTION WITH CDK9.
    10. "Histone methyltransferase Suv39h1 represses MyoD-stimulated myogenic differentiation."
      Mal A.K.
      EMBO J. 25:3323-3334(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH SUV39H1.
    11. "Lysine methyltransferase G9a methylates the transcription factor MyoD and regulates skeletal muscle differentiation."
      Ling B.M., Bharathy N., Chung T.K., Kok W.K., Li S., Tan Y.H., Rao V.K., Gopinadhan S., Sartorelli V., Walsh M.J., Taneja R.
      Proc. Natl. Acad. Sci. U.S.A. 109:841-846(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: METHYLATION AT LYS-104.
    12. Cited for: VARIANTS [LARGE SCALE ANALYSIS] LYS-262 AND VAL-309.

    Entry informationi

    Entry nameiMYOD1_HUMAN
    AccessioniPrimary (citable) accession number: P15172
    Secondary accession number(s): O75321
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 1, 1990
    Last sequence update: October 14, 2008
    Last modified: October 1, 2014
    This is version 153 of the entry and version 3 of the sequence. [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
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3