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P23409 (MYF6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 136. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:MYF6
Synonyms:BHLHC4, MRF4
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length242 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subunit structure

Efficient DNA binding requires dimerization with another bHLH protein.

Subcellular location

Nucleus.

Tissue specificity

Skeletal muscle.

Involvement in disease

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. Ref.7 Ref.8

Sequence similarities

Contains 1 bHLH (basic helix-loop-helix) domain.

Ontologies

Keywords
   Biological processDifferentiation
Myogenesis
   Cellular componentNucleus
   DiseaseDisease mutation
   LigandDNA-binding
   Molecular functionDevelopmental protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processmuscle cell differentiation

Traceable author statement. Source: Reactome

muscle cell fate commitment

Inferred from sequence or structural similarity. Source: BHF-UCL

muscle tissue morphogenesis

Inferred from electronic annotation. Source: Ensembl

negative regulation of transcription, DNA-templated

Inferred from electronic annotation. Source: Ensembl

positive regulation of muscle cell differentiation

Traceable author statement. Source: Reactome

positive regulation of transcription from RNA polymerase II promoter

Inferred from sequence or structural similarity. Source: BHF-UCL

regulation of transcription from RNA polymerase II promoter

Traceable author statement Ref.1. Source: ProtInc

skeletal muscle cell differentiation

Inferred from electronic annotation. Source: Ensembl

skeletal muscle tissue development

Traceable author statement Ref.1. Source: ProtInc

skeletal muscle tissue regeneration

Inferred from electronic annotation. Source: Ensembl

somitogenesis

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentnucleoplasm

Traceable author statement. Source: Reactome

nucleus

Traceable author statement Ref.1. Source: ProtInc

   Molecular_functionDNA binding

Inferred from electronic annotation. Source: UniProtKB-KW

protein heterodimerization activity

Inferred from sequence or structural similarity. Source: BHF-UCL

sequence-specific DNA binding transcription factor activity

Traceable author statement Ref.1. Source: ProtInc

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 242242Myogenic factor 6
PRO_0000127351

Regions

Domain93 – 14452bHLH

Natural variations

Natural variant901A → D in CNM3. Ref.7
Corresponds to variant rs138296448 [ dbSNP | Ensembl ].
VAR_004493
Natural variant1121A → S in CNM3; also identified in a Becker muscular dystrophy patient. Ref.7 Ref.8
Corresponds to variant rs28928909 [ dbSNP | Ensembl ].
VAR_004494

Experimental info

Sequence conflict1691P → S in CAG46563. Ref.3

Sequences

Sequence LengthMass (Da)Tools
P23409 [UniParc].

Last modified November 1, 1991. Version 1.
Checksum: 33FA8E5E54317241

FASTA24226,953
        10         20         30         40         50         60 
MMMDLFETGS YFFYLDGENV TLQPLEVAEG SPLYPGSDGT LSPCQDQMPP EAGSDSSGEE 

        70         80         90        100        110        120 
HVLAPPGLQP PHCPGQCLIW ACKTCKRKSA PTDRRKAATL RERRRLKKIN EAFEALKRRT 

       130        140        150        160        170        180 
VANPNQRLPK VEILRSAISY IERLQDLLHR LDQQEKMQEL GVDPFSYRPK QENLEGADFL 

       190        200        210        220        230        240 
RTCSSQWPSV SDHSRGLVIT AKEGGASIDS SASSSLRCLS SIVDSISSEE RKLPCVEEVV 


EK 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS9019.1.
PIRS12385.
RefSeqNP_002460.1. NM_002469.2.
UniGeneHs.35937.

3D structure databases

ProteinModelPortalP23409.
SMRP23409. Positions 93-148.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110703. 6 interactions.
IntActP23409. 2 interactions.
STRING9606.ENSP00000228641.

PTM databases

PhosphoSiteP23409.

Polymorphism databases

DMDM127630.

Proteomic databases

PaxDbP23409.
PRIDEP23409.

Protocols and materials databases

DNASU4618.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000228641; ENSP00000228641; ENSG00000111046.
GeneID4618.
KEGGhsa:4618.
UCSCuc001szf.2. human.

Organism-specific databases

CTD4618.
GeneCardsGC12P081076.
HGNCHGNC:7566. MYF6.
MIM159991. gene.
614408. phenotype.
neXtProtNX_P23409.
Orphanet169189. Autosomal dominant centronuclear myopathy.
PharmGKBPA31364.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG309598.
HOGENOMHOG000234799.
HOVERGENHBG006429.
InParanoidP23409.
OMAHRLDQQD.
OrthoDBEOG76QFK1.
PhylomeDBP23409.
TreeFamTF316344.

Enzyme and pathway databases

ReactomeREACT_111045. Developmental Biology.
SignaLinkP23409.

Gene expression databases

BgeeP23409.
CleanExHS_MYF6.
GenevestigatorP23409.

Family and domain databases

Gene3D4.10.280.10. 1 hit.
InterProIPR002546. Basic.
IPR011598. bHLH_dom.
[Graphical view]
PfamPF01586. Basic. 1 hit.
PF00010. HLH. 1 hit.
[Graphical view]
SMARTSM00520. BASIC. 1 hit.
SM00353. HLH. 1 hit.
[Graphical view]
SUPFAMSSF47459. SSF47459. 1 hit.
PROSITEPS50888. BHLH. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi4618.
NextBio17776.
PROP23409.
SOURCESearch...

Entry information

Entry nameMYF6_HUMAN
AccessionPrimary (citable) accession number: P23409
Secondary accession number(s): B2R898, Q53X80, Q6FHI9
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1991
Last sequence update: November 1, 1991
Last modified: July 9, 2014
This is version 136 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM