InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MYF6

Summary

InnateDB Protein

IDBP-49616.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MYF6

Protein Name

myogenic factor 6 (herculin)

Synonyms

bHLHc4; CNM3; MRF4; myf-6;

Species

Homo sapiens

Ensembl Protein

ENSP00000228641

InnateDB Gene

IDBG-49614 (MYF6)

Protein Structure

UniProt Annotation

Function

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

Subcellular Localization

Nucleus.

Disease Associations

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. {ECO:0000269PubMed:11053684, ECO:0000269Ref.7}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Skeletal muscle.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.

Experimentally validated
Total	7 [view]
Protein-Protein	7 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0046982	protein heterodimerization activity
GO:0046983	protein dimerization activity
GO:0070888	E-box binding

Biological Process

GO:0001756	somitogenesis
GO:0006355	regulation of transcription, DNA-templated
GO:0006357	regulation of transcription from RNA polymerase II promoter
GO:0007517	muscle organ development
GO:0007519	skeletal muscle tissue development
GO:0035914	skeletal muscle cell differentiation
GO:0042692	muscle cell differentiation
GO:0042693	muscle cell fate commitment
GO:0043403	skeletal muscle tissue regeneration
GO:0045892	negative regulation of transcription, DNA-templated
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0051149	positive regulation of muscle cell differentiation
GO:0060415	muscle tissue morphogenesis