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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Human disease related genes Transcription factors
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
11
Cytoband
p15.1
Chromosome location (bp)
17719571 - 17722136
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Acts as a transcriptional activator that promotes transcription of muscle-specific target genes and plays a role in muscle differentiation. Together with MYF5 and MYOG, co-occupies muscle-specific gene promoter core region during myogenesis. Induces fibroblasts to differentiate into myoblasts. Interacts with and is inhibited by the twist protein. This interaction probably involves the basic domains of both proteins (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator, Developmental protein, DNA-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
This gene encodes a nuclear protein that belongs to the basic helix-loop-helix family of transcription factors and the myogenic factors subfamily. It regulates muscle cell differentiation by inducing cell cycle arrest, a prerequisite for myogenic initiation. The protein is also involved in muscle regeneration. It activates its own transcription which may stabilize commitment to myogenesis. [provided by RefSeq, Jul 2008]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
P15172 [Direct mapping] Myoblast determination protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Basic domains Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes Human disease related genes Musculoskeletal diseases Muscular diseases Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0000381[regulation of alternative mRNA splicing, via spliceosome] GO:0000785[chromatin] GO:0000791[euchromatin] GO:0000977[RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0000987[cis-regulatory region sequence-specific DNA binding] GO:0001216[DNA-binding transcription activator activity] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006366[transcription by RNA polymerase II] GO:0006468[protein phosphorylation] GO:0007517[muscle organ development] GO:0007518[myoblast fate determination] GO:0007519[skeletal muscle tissue development] GO:0007520[myoblast fusion] GO:0009267[cellular response to starvation] GO:0010468[regulation of gene expression] GO:0014902[myotube differentiation] GO:0014904[myotube cell development] GO:0014908[myotube differentiation involved in skeletal muscle regeneration] GO:0016922[nuclear receptor binding] GO:0019899[enzyme binding] GO:0030016[myofibril] GO:0030154[cell differentiation] GO:0031490[chromatin DNA binding] GO:0031625[ubiquitin protein ligase binding] GO:0035562[negative regulation of chromatin binding] GO:0035914[skeletal muscle cell differentiation] GO:0042692[muscle cell differentiation] GO:0042693[muscle cell fate commitment] GO:0042803[protein homodimerization activity] GO:0043403[skeletal muscle tissue regeneration] GO:0043415[positive regulation of skeletal muscle tissue regeneration] GO:0043425[bHLH transcription factor binding] GO:0043484[regulation of RNA splicing] GO:0043503[skeletal muscle fiber adaptation] GO:0043565[sequence-specific DNA binding] GO:0045445[myoblast differentiation] GO:0045663[positive regulation of myoblast differentiation] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046983[protein dimerization activity] GO:0048741[skeletal muscle fiber development] GO:0048743[positive regulation of skeletal muscle fiber development] GO:0048856[anatomical structure development] GO:0051099[positive regulation of binding] GO:0051146[striated muscle cell differentiation] GO:0051149[positive regulation of muscle cell differentiation] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070888[E-box binding] GO:0071356[cellular response to tumor necrosis factor] GO:0071385[cellular response to glucocorticoid stimulus] GO:0071392[cellular response to estradiol stimulus] GO:0071453[cellular response to oxygen levels] GO:1901741[positive regulation of myoblast fusion] GO:1905382[positive regulation of snRNA transcription by RNA polymerase II] GO:1990837[sequence-specific double-stranded DNA binding] GO:1990841[promoter-specific chromatin binding] GO:2000818[negative regulation of myoblast proliferation]
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