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P23409

- MYF6_HUMAN

UniProt

P23409 - MYF6_HUMAN

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Protein

Myogenic factor 6

Gene
MYF6, BHLHC4, MRF4
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

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
Complete GO annotation...

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.
Note: The disease may be caused by mutations affecting the gene represented in this entry.2 Publications
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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini93 – 14452bHLHAdd
BLAST

Sequence similaritiesi

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

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 conflict

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

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 137 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

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