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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

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processDifferentiation, Myogenesis

Enzyme and pathway databases

ReactomeiR-HSA-375170. CDO in myogenesis.
SignaLinkiP23409.
SIGNORiP23409.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:7566. MYF6.

Subcellular locationi

GO - Cellular componenti

  • nucleoplasm Source: Reactome
  • nucleus Source: ProtInc
  • RNA polymerase II transcription factor complex Source: BHF-UCL

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_00449390A → D in CNM3. 1 PublicationCorresponds to variant dbSNP:rs138296448Ensembl.1
Natural variantiVAR_004494112A → S in CNM3; also identified in a Becker muscular dystrophy patient. 2 PublicationsCorresponds to variant dbSNP:rs28928909Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi4618.
MalaCardsiMYF6.
MIMi614408. phenotype.
OpenTargetsiENSG00000111046.
Orphaneti169189. Autosomal dominant centronuclear myopathy.
PharmGKBiPA31364.

Polymorphism and mutation databases

BioMutaiMYF6.
DMDMi127630.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001273511 – 242Myogenic factor 6Add BLAST242

Proteomic databases

PaxDbiP23409.
PeptideAtlasiP23409.
PRIDEiP23409.

PTM databases

iPTMnetiP23409.
PhosphoSitePlusiP23409.

Expressioni

Tissue specificityi

Skeletal muscle.

Gene expression databases

BgeeiENSG00000111046.
CleanExiHS_MYF6.
GenevisibleiP23409. HS.

Interactioni

Subunit structurei

Efficient DNA binding requires dimerization with another bHLH protein. Interacts with CSRP3.By similarity

GO - Molecular functioni

Protein-protein interaction databases

BioGridi110703. 14 interactors.
IntActiP23409. 2 interactors.
STRINGi9606.ENSP00000228641.

Structurei

3D structure databases

ProteinModelPortaliP23409.
SMRiP23409.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini93 – 144bHLHPROSITE-ProRule annotationAdd BLAST52

Phylogenomic databases

eggNOGiKOG3960. Eukaryota.
ENOG4111SED. LUCA.
GeneTreeiENSGT00530000063004.
HOGENOMiHOG000234799.
HOVERGENiHBG006429.
InParanoidiP23409.
KOiK18485.
OMAiDQQDKMQ.
OrthoDBiEOG091G0GKD.
PhylomeDBiP23409.
TreeFamiTF316344.

Family and domain databases

CDDicd00083. HLH. 1 hit.
Gene3Di4.10.280.10. 1 hit.
InterProiView protein in InterPro
IPR002546. Basic.
IPR011598. bHLH_dom.
PfamiView protein in Pfam
PF01586. Basic. 1 hit.
PF00010. HLH. 1 hit.
SMARTiView protein in SMART
SM00520. BASIC. 1 hit.
SM00353. HLH. 1 hit.
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiView protein in PROSITE
PS50888. BHLH. 1 hit.

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)DescriptionActionsGraphical viewLength
Sequence conflicti169P → S in CAG46563 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00449390A → D in CNM3. 1 PublicationCorresponds to variant dbSNP:rs138296448Ensembl.1
Natural variantiVAR_004494112A → S in CNM3; also identified in a Becker muscular dystrophy patient. 2 PublicationsCorresponds to variant dbSNP:rs28928909Ensembl.1

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.3. human.

Similar proteinsi

Entry informationi

Entry nameiMYF6_HUMAN
AccessioniPrimary (citable) accession number: P23409
Secondary accession number(s): B2R898, Q53X80, Q6FHI9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1991
Last sequence update: November 1, 1991
Last modified: August 30, 2017
This is version 161 of the entry and version 1 of the sequence. See 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