Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Myogenic factor 6

Gene

MYF6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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. protein heterodimerization activity Source: BHF-UCL
  2. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: GO_Central
  3. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: GO_Central
  4. RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: GO_Central
  5. 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 myoblast differentiation Source: GO_Central
  7. positive regulation of myoblast fusion Source: GO_Central
  8. positive regulation of skeletal muscle fiber development Source: GO_Central
  9. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  10. regulation of transcription from RNA polymerase II promoter Source: ProtInc
  11. skeletal muscle cell differentiation Source: GO_Central
  12. skeletal muscle tissue development Source: ProtInc
  13. skeletal muscle tissue regeneration Source: Ensembl
  14. somitogenesis Source: Ensembl
  15. transcription from RNA polymerase II promoter Source: GOC
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 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:7566. MYF6.

Subcellular locationi

GO - Cellular componenti

  1. nucleoplasm Source: Reactome
  2. nucleus Source: ProtInc
  3. RNA polymerase II transcription factor complex Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Myopathy, centronuclear, 3 (CNM3)2 Publications

The disease may be caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:614408
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.

Polymorphism and mutation databases

BioMutaiMYF6.
DMDMi127630.

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.
GeneTreeiENSGT00530000063004.
HOGENOMiHOG000234799.
HOVERGENiHBG006429.
InParanoidiP23409.
KOiK18485.
OMAiQQDKMQE.
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

        10         20         30         40         50
MMMDLFETGS YFFYLDGENV TLQPLEVAEG SPLYPGSDGT LSPCQDQMPP
60 70 80 90 100
EAGSDSSGEE HVLAPPGLQP PHCPGQCLIW ACKTCKRKSA PTDRRKAATL
110 120 130 140 150
RERRRLKKIN EAFEALKRRT VANPNQRLPK VEILRSAISY IERLQDLLHR
160 170 180 190 200
LDQQEKMQEL GVDPFSYRPK QENLEGADFL RTCSSQWPSV SDHSRGLVIT
210 220 230 240
AKEGGASIDS SASSSLRCLS SIVDSISSEE RKLPCVEEVV EK
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 (Ref. 3) Curated

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:
EMBLi
GenBanki
DDBJi
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 and mutation databases

BioMutaiMYF6.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

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

Protein-protein interaction databases

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

PTM databases

PhosphoSiteiP23409.

Polymorphism and mutation databases

BioMutaiMYF6.
DMDMi127630.

Proteomic databases

PaxDbiP23409.
PRIDEiP23409.

Protocols and materials databases

DNASUi4618.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi4618.
GeneCardsiGC12P081076.
HGNCiHGNC:7566. MYF6.
MIMi159991. gene.
614408. phenotype.
neXtProtiNX_P23409.
Orphaneti169189. Autosomal dominant centronuclear myopathy.
PharmGKBiPA31364.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG309598.
GeneTreeiENSGT00530000063004.
HOGENOMiHOG000234799.
HOVERGENiHBG006429.
InParanoidiP23409.
KOiK18485.
OMAiQQDKMQE.
OrthoDBiEOG76QFK1.
PhylomeDBiP23409.
TreeFamiTF316344.

Enzyme and pathway databases

ReactomeiREACT_21402. CDO in myogenesis.
SignaLinkiP23409.

Miscellaneous databases

GenomeRNAii4618.
NextBioi17776.
PROiP23409.
SOURCEiSearch...

Gene expression databases

BgeeiP23409.
CleanExiHS_MYF6.
GenevestigatoriP23409.

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]
ProtoNetiSearch...

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: April 29, 2015
This is version 143 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.