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P23409

- MYF6_HUMAN

UniProt

P23409 - MYF6_HUMAN

Protein

Myogenic factor 6

Gene

MYF6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 138 (01 Oct 2014)
      Sequence version 1 (01 Nov 1991)
      Previous versions | rss
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    Functioni

    Involved in muscle differentiation (myogenic factor). Induces fibroblasts to differentiate into myoblasts. Probable sequence specific DNA-binding protein.

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB-KW
    2. protein heterodimerization activity Source: BHF-UCL
    3. sequence-specific DNA binding transcription factor activity Source: ProtInc

    GO - Biological processi

    1. muscle cell differentiation Source: Reactome
    2. muscle cell fate commitment Source: BHF-UCL
    3. muscle tissue morphogenesis Source: Ensembl
    4. negative regulation of transcription, DNA-templated Source: Ensembl
    5. positive regulation of muscle cell differentiation Source: Reactome
    6. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    7. regulation of transcription from RNA polymerase II promoter Source: ProtInc
    8. skeletal muscle cell differentiation Source: Ensembl
    9. skeletal muscle tissue development Source: ProtInc
    10. skeletal muscle tissue regeneration Source: Ensembl
    11. somitogenesis Source: Ensembl

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Differentiation, Myogenesis

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    ReactomeiREACT_21402. CDO in myogenesis.
    SignaLinkiP23409.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Myogenic factor 6
    Short name:
    Myf-6
    Alternative name(s):
    Class C basic helix-loop-helix protein 4
    Short name:
    bHLHc4
    Muscle-specific regulatory factor 4
    Gene namesi
    Name:MYF6
    Synonyms:BHLHC4, MRF4
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:7566. MYF6.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleoplasm Source: Reactome
    2. nucleus Source: ProtInc

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Myopathy, centronuclear, 3 (CNM3) [MIM:614408]: A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers.2 Publications
    Note: The disease may be caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti90 – 901A → D in CNM3. 1 Publication
    Corresponds to variant rs138296448 [ dbSNP | Ensembl ].
    VAR_004493
    Natural varianti112 – 1121A → S in CNM3; also identified in a Becker muscular dystrophy patient. 2 Publications
    Corresponds to variant rs28928909 [ dbSNP | Ensembl ].
    VAR_004494

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi614408. phenotype.
    Orphaneti169189. Autosomal dominant centronuclear myopathy.
    PharmGKBiPA31364.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 242242Myogenic factor 6PRO_0000127351Add
    BLAST

    Proteomic databases

    PaxDbiP23409.
    PRIDEiP23409.

    PTM databases

    PhosphoSiteiP23409.

    Expressioni

    Tissue specificityi

    Skeletal muscle.

    Gene expression databases

    BgeeiP23409.
    CleanExiHS_MYF6.
    GenevestigatoriP23409.

    Interactioni

    Subunit structurei

    Efficient DNA binding requires dimerization with another bHLH protein.

    Protein-protein interaction databases

    BioGridi110703. 6 interactions.
    IntActiP23409. 2 interactions.
    STRINGi9606.ENSP00000228641.

    Structurei

    3D structure databases

    ProteinModelPortaliP23409.
    SMRiP23409. Positions 93-148.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini93 – 14452bHLHPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiNOG309598.
    HOGENOMiHOG000234799.
    HOVERGENiHBG006429.
    InParanoidiP23409.
    OMAiHRLDQQD.
    OrthoDBiEOG76QFK1.
    PhylomeDBiP23409.
    TreeFamiTF316344.

    Family and domain databases

    Gene3Di4.10.280.10. 1 hit.
    InterProiIPR002546. Basic.
    IPR011598. bHLH_dom.
    [Graphical view]
    PfamiPF01586. Basic. 1 hit.
    PF00010. HLH. 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.

    P23409-1 [UniParc]FASTAAdd to Basket

    « Hide

    MMMDLFETGS YFFYLDGENV TLQPLEVAEG SPLYPGSDGT LSPCQDQMPP    50
    EAGSDSSGEE HVLAPPGLQP PHCPGQCLIW ACKTCKRKSA PTDRRKAATL 100
    RERRRLKKIN EAFEALKRRT VANPNQRLPK VEILRSAISY IERLQDLLHR 150
    LDQQEKMQEL GVDPFSYRPK QENLEGADFL RTCSSQWPSV SDHSRGLVIT 200
    AKEGGASIDS SASSSLRCLS SIVDSISSEE RKLPCVEEVV EK 242
    Length:242
    Mass (Da):26,953
    Last modified:November 1, 1991 - v1
    Checksum:i33FA8E5E54317241
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti169 – 1691P → S in CAG46563. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti90 – 901A → D in CNM3. 1 Publication
    Corresponds to variant rs138296448 [ dbSNP | Ensembl ].
    VAR_004493
    Natural varianti112 – 1121A → S in CNM3; also identified in a Becker muscular dystrophy patient. 2 Publications
    Corresponds to variant rs28928909 [ dbSNP | Ensembl ].
    VAR_004494

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X52011 mRNA. Translation: CAA36260.1.
    CR407641 mRNA. Translation: CAG28569.1.
    CR541763 mRNA. Translation: CAG46563.1.
    AK313287 mRNA. Translation: BAG36095.1.
    CH471054 Genomic DNA. Translation: EAW97367.1.
    BC017834 mRNA. Translation: AAH17834.1.
    CCDSiCCDS9019.1.
    PIRiS12385.
    RefSeqiNP_002460.1. NM_002469.2.
    UniGeneiHs.35937.

    Genome annotation databases

    EnsembliENST00000228641; ENSP00000228641; ENSG00000111046.
    GeneIDi4618.
    KEGGihsa:4618.
    UCSCiuc001szf.2. human.

    Polymorphism databases

    DMDMi127630.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X52011 mRNA. Translation: CAA36260.1 .
    CR407641 mRNA. Translation: CAG28569.1 .
    CR541763 mRNA. Translation: CAG46563.1 .
    AK313287 mRNA. Translation: BAG36095.1 .
    CH471054 Genomic DNA. Translation: EAW97367.1 .
    BC017834 mRNA. Translation: AAH17834.1 .
    CCDSi CCDS9019.1.
    PIRi S12385.
    RefSeqi NP_002460.1. NM_002469.2.
    UniGenei Hs.35937.

    3D structure databases

    ProteinModelPortali P23409.
    SMRi P23409. Positions 93-148.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110703. 6 interactions.
    IntActi P23409. 2 interactions.
    STRINGi 9606.ENSP00000228641.

    PTM databases

    PhosphoSitei P23409.

    Polymorphism databases

    DMDMi 127630.

    Proteomic databases

    PaxDbi P23409.
    PRIDEi P23409.

    Protocols and materials databases

    DNASUi 4618.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000228641 ; ENSP00000228641 ; ENSG00000111046 .
    GeneIDi 4618.
    KEGGi hsa:4618.
    UCSCi uc001szf.2. human.

    Organism-specific databases

    CTDi 4618.
    GeneCardsi GC12P081076.
    HGNCi HGNC:7566. MYF6.
    MIMi 159991. gene.
    614408. phenotype.
    neXtProti NX_P23409.
    Orphaneti 169189. Autosomal dominant centronuclear myopathy.
    PharmGKBi PA31364.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG309598.
    HOGENOMi HOG000234799.
    HOVERGENi HBG006429.
    InParanoidi P23409.
    OMAi HRLDQQD.
    OrthoDBi EOG76QFK1.
    PhylomeDBi P23409.
    TreeFami TF316344.

    Enzyme and pathway databases

    Reactomei REACT_21402. CDO in myogenesis.
    SignaLinki P23409.

    Miscellaneous databases

    GenomeRNAii 4618.
    NextBioi 17776.
    PROi P23409.
    SOURCEi Search...

    Gene expression databases

    Bgeei P23409.
    CleanExi HS_MYF6.
    Genevestigatori P23409.

    Family and domain databases

    Gene3Di 4.10.280.10. 1 hit.
    InterProi IPR002546. Basic.
    IPR011598. bHLH_dom.
    [Graphical view ]
    Pfami PF01586. Basic. 1 hit.
    PF00010. HLH. 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. "Myf-6, a new member of the human gene family of myogenic determination factors: evidence for a gene cluster on chromosome 12."
      Braun T., Bober E., Winter B., Rosenthal N., Arnold H.H.
      EMBO J. 9:821-831(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
      Submitted (MAY-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    3. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Halleck A., Ebert L., Mkoundinya M., Schick M., Eisenstein S., Neubert P., Kstrang K., Schatten R., Shen B., Henze S., Mar W., Korn B., Zuo D., Hu Y., LaBaer J.
      Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Skeletal muscle.
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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: Skeletal muscle.
    7. "MYF6 mutations resulting in A112S and A90D substitutions in patients with skeletal or cardiac muscle pathology."
      Kerst B., Perrot A., Osterziel K.-J., Huebner C., Speer A.
      Hum. Mutat. 12:220-220(1998)
      Cited for: VARIANTS CNM3 ASP-90 AND SER-112.
    8. "Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy."
      Kerst B., Mennerich D., Schuelke M., Stoltenburg-Didinger G., von Moers A., Gossrau R., van Landeghem F.K.H., Speer A., Braun T., Huebner C.
      Neuromuscul. Disord. 10:572-577(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CNM3 SER-112.

    Entry informationi

    Entry nameiMYF6_HUMAN
    AccessioniPrimary (citable) accession number: P23409
    Secondary accession number(s): B2R898, Q53X80, Q6FHI9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1991
    Last sequence update: November 1, 1991
    Last modified: October 1, 2014
    This is version 138 of the entry and version 1 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 12
      Human chromosome 12: 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