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Protein

Myogenic factor 6

Gene

MYF6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

EuPathDBiHostDB:ENSG00000111046.3
HGNCiHGNC:7566 MYF6
MIMi159991 gene
neXtProtiNX_P23409

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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:rs138296448EnsemblClinVar.1
Natural variantiVAR_004494112A → S in CNM3; also identified in a Becker muscular dystrophy patient. 2 PublicationsCorresponds to variant dbSNP:rs28928909EnsemblClinVar.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
MINTiP23409
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
IPR036638 HLH_DNA-bd_sf
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:rs138296448EnsemblClinVar.1
Natural variantiVAR_004494112A → S in CNM3; also identified in a Becker muscular dystrophy patient. 2 PublicationsCorresponds to variant dbSNP:rs28928909EnsemblClinVar.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: May 23, 2018
This is version 167 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

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