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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).
Plasma proteins 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
3
Cytoband
q29
Chromosome location (bp)
194136148 - 194138732
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Transcriptional repressor of genes that require a bHLH protein for their transcription. May act as a negative regulator of myogenesis by inhibiting the functions of MYOD1 and ASH1. Binds DNA on N-box motifs: 5'-CACNAG-3' with high affinity and on E-box motifs: 5'- CANNTG-3' with low affinity (By similarity). May play a role in a functional FA core complex response to DNA cross-link damage, being required for the stability and nuclear localization of FA core complex proteins, as well as for FANCD2 monoubiquitination in response to DNA damage....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
DNA-binding, Repressor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Transcription, Transcription regulation
Gene summary (Entrez)i
Useful information about the gene from Entrez
This protein belongs to the basic helix-loop-helix family of transcription factors. It is a transcriptional repressor of genes that require a bHLH protein for their transcription. The protein has a particular type of basic domain that contains a helix interrupting protein that binds to the N-box rather than the canonical E-box. [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.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Basic domains Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001217[DNA-binding transcription repressor activity] GO:0001222[transcription corepressor binding] GO:0001227[DNA-binding transcription repressor activity, RNA polymerase II-specific] GO:0001701[in utero embryonic development] GO:0001709[cell fate determination] GO:0001889[liver development] GO:0002085[inhibition of neuroepithelial cell differentiation] GO:0003143[embryonic heart tube morphogenesis] GO:0003151[outflow tract morphogenesis] GO:0003266[regulation of secondary heart field cardioblast proliferation] GO:0003281[ventricular septum development] GO:0003310[pancreatic A cell differentiation] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007155[cell adhesion] GO:0007219[Notch signaling pathway] GO:0007224[smoothened signaling pathway] GO:0007389[pattern specification process] GO:0007399[nervous system development] GO:0008283[cell population proliferation] GO:0008284[positive regulation of cell population proliferation] GO:0008432[JUN kinase binding] GO:0009952[anterior/posterior pattern specification] GO:0010628[positive regulation of gene expression] GO:0010629[negative regulation of gene expression] GO:0010977[negative regulation of neuron projection development] GO:0014070[response to organic cyclic compound] GO:0016363[nuclear matrix] GO:0016477[cell migration] GO:0021537[telencephalon development] GO:0021555[midbrain-hindbrain boundary morphogenesis] GO:0021557[oculomotor nerve development] GO:0021558[trochlear nerve development] GO:0021575[hindbrain morphogenesis] GO:0021861[forebrain radial glial cell differentiation] GO:0021870[Cajal-Retzius cell differentiation] GO:0021915[neural tube development] GO:0021983[pituitary gland development] GO:0021984[adenohypophysis development] GO:0030182[neuron differentiation] GO:0030324[lung development] GO:0030509[BMP signaling pathway] GO:0030513[positive regulation of BMP signaling pathway] GO:0030901[midbrain development] GO:0031016[pancreas development] GO:0032991[protein-containing complex] GO:0035019[somatic stem cell population maintenance] GO:0035315[hair cell differentiation] GO:0035881[amacrine cell differentiation] GO:0035883[enteroendocrine cell differentiation] GO:0035909[aorta morphogenesis] GO:0035910[ascending aorta morphogenesis] GO:0042098[T cell proliferation] GO:0042102[positive regulation of T cell proliferation] GO:0042491[inner ear auditory receptor cell differentiation] GO:0042531[positive regulation of tyrosine phosphorylation of STAT protein] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0042826[histone deacetylase binding] GO:0043254[regulation of protein-containing complex assembly] GO:0043279[response to alkaloid] GO:0043388[positive regulation of DNA binding] GO:0043398[HLH domain binding] GO:0043433[negative regulation of DNA-binding transcription factor activity] GO:0043565[sequence-specific DNA binding] GO:0044877[protein-containing complex binding] GO:0045165[cell fate commitment] GO:0045596[negative regulation of cell differentiation] GO:0045598[regulation of fat cell differentiation] GO:0045608[negative regulation of inner ear auditory receptor cell differentiation] GO:0045664[regulation of neuron differentiation] GO:0045665[negative regulation of neuron differentiation] GO:0045687[positive regulation of glial cell differentiation] GO:0045747[positive regulation of Notch signaling pathway] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0045977[positive regulation of mitotic cell cycle, embryonic] GO:0046331[lateral inhibition] GO:0046425[regulation of receptor signaling pathway via JAK-STAT] GO:0046427[positive regulation of receptor signaling pathway via JAK-STAT] GO:0046983[protein dimerization activity] GO:0048469[cell maturation] GO:0048505[regulation of timing of cell differentiation] GO:0048538[thymus development] GO:0048667[cell morphogenesis involved in neuron differentiation] GO:0048711[positive regulation of astrocyte differentiation] GO:0048715[negative regulation of oligodendrocyte differentiation] GO:0048844[artery morphogenesis] GO:0050678[regulation of epithelial cell proliferation] GO:0050767[regulation of neurogenesis] GO:0050768[negative regulation of neurogenesis] GO:0051087[chaperone binding] GO:0060122[inner ear receptor cell stereocilium organization] GO:0060164[regulation of timing of neuron differentiation] GO:0060253[negative regulation of glial cell proliferation] GO:0060412[ventricular septum morphogenesis] GO:0060675[ureteric bud morphogenesis] GO:0060716[labyrinthine layer blood vessel development] GO:0061009[common bile duct development] GO:0061101[neuroendocrine cell differentiation] GO:0061102[stomach neuroendocrine cell differentiation] GO:0061106[negative regulation of stomach neuroendocrine cell differentiation] GO:0061309[cardiac neural crest cell development involved in outflow tract morphogenesis] GO:0061626[pharyngeal arch artery morphogenesis] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0065003[protein-containing complex assembly] GO:0070888[E-box binding] GO:0071347[cellular response to interleukin-1] GO:0071356[cellular response to tumor necrosis factor] GO:0071398[cellular response to fatty acid] GO:0071820[N-box binding] GO:0072012[glomerulus vasculature development] GO:0072049[comma-shaped body morphogenesis] GO:0072050[S-shaped body morphogenesis] GO:0072141[renal interstitial fibroblast development] GO:0072282[metanephric nephron tubule morphogenesis] GO:0090102[cochlea development] GO:0090162[establishment of epithelial cell polarity] GO:0090281[negative regulation of calcium ion import] GO:0097066[response to thyroid hormone] GO:0097084[vascular associated smooth muscle cell development] GO:0097150[neuronal stem cell population maintenance] GO:1902870[negative regulation of amacrine cell differentiation] GO:1905934[negative regulation of cell fate determination] GO:1990090[cellular response to nerve growth factor stimulus] GO:1990837[sequence-specific double-stranded DNA binding] GO:2000227[negative regulation of pancreatic A cell differentiation] GO:2000737[negative regulation of stem cell differentiation] GO:2000974[negative regulation of pro-B cell differentiation] GO:2000978[negative regulation of forebrain neuron differentiation] GO:2000981[negative regulation of inner ear receptor cell differentiation]