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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).
Disease related genes Human disease related genes 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
4
Cytoband
q12
Chromosome location (bp)
56907876 - 56966808
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 which binds neuron-restrictive silencer element (NRSE) and represses neuronal gene transcription in non-neuronal cells 1,2,3,4,5,6,7. Restricts the expression of neuronal genes by associating with two distinct corepressors, SIN3A and RCOR1, which in turn recruit histone deacetylase to the promoters of REST-regulated genes 8,9. Mediates repression by recruiting the BHC complex at RE1/NRSE sites which acts by deacetylating and demethylating specific sites on histones, thereby acting as a chromatin modifier (By similarity). Transcriptional repression by REST-CDYL via the recruitment of histone methyltransferase EHMT2 may be important in transformation suppression 10. Represses the expression of SRRM4 in non-neural cells to prevent the activation of neural-specific splicing events and to prevent production of REST isoform 3 (By similarity). Repressor activity may be inhibited by forming heterodimers with isoform 3, thereby preventing binding to NRSE or binding to corepressors and leading to derepression of target genes 11. Also maintains repression of neuronal genes in neural stem cells, and allows transcription and differentiation into neurons by dissociation from RE1/NRSE sites of target genes (By similarity). Thereby is involved in maintaining the quiescent state of adult neural stem cells and preventing premature differentiation into mature neurons 12. Plays a role in the developmental switch in synaptic NMDA receptor composition during postnatal development, by repressing GRIN2B expression and thereby altering NMDA receptor properties from containing primarily GRIN2B to primarily GRIN2A subunits (By similarity). Acts as a regulator of osteoblast differentiation (By similarity). Key repressor of gene expression in hypoxia; represses genes in hypoxia by direct binding to an RE1/NRSE site on their promoter regions 13. May also function in stress resistance in the brain during aging; possibly by regulating expression of genes involved in cell death and in the stress response 14. Repressor of gene expression in the hippocampus after ischemia by directly binding to RE1/NRSE sites and recruiting SIN3A and RCOR1 to promoters of target genes, thereby promoting changes in chromatin modifications and ischemia-induced cell death (By similarity). After ischemia, might play a role in repression of miR-132 expression in hippocampal neurons, thereby leading to neuronal cell death (By similarity). Negatively regulates the expression of SRRM3 in breast cancer cell lines 15....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Repressor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Transcription, Transcription regulation
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene was initially identified as a transcriptional repressor that represses neuronal genes in non-neuronal tissues. However, depending on the cellular context, this gene can act as either an oncogene or a tumor suppressor. The encoded protein is a member of the Kruppel-type zinc finger transcription factor family. It represses transcription by binding a DNA sequence element called the neuron-restrictive silencer element. The protein is also found in undifferentiated neuronal progenitor cells and it is thought that this repressor may act as a master negative regulator of neurogenesis. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2018]...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 Zinc-coordinating DNA-binding domains Disease related genes Human disease related genes Cancers Cancers of the urinary system Digestive system diseases Mouth and dental diseases Nervous system diseases Ear disease Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000381[regulation of alternative mRNA splicing, via spliceosome] GO:0000976[transcription cis-regulatory region binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000979[RNA polymerase II core promoter sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001227[DNA-binding transcription repressor activity, RNA polymerase II-specific] GO:0001666[response to hypoxia] GO:0002244[hematopoietic progenitor cell differentiation] GO:0002931[response to ischemia] 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:0005737[cytoplasm] GO:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0008285[negative regulation of cell population proliferation] GO:0010468[regulation of gene expression] GO:0010629[negative regulation of gene expression] GO:0017053[transcription repressor complex] GO:0032348[negative regulation of aldosterone biosynthetic process] GO:0035019[somatic stem cell population maintenance] GO:0043065[positive regulation of apoptotic process] GO:0043280[positive regulation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0043565[sequence-specific DNA binding] GO:0043922[negative regulation by host of viral transcription] GO:0045665[negative regulation of neuron differentiation] GO:0045666[positive regulation of neuron differentiation] GO:0045667[regulation of osteoblast differentiation] 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:0045955[negative regulation of calcium ion-dependent exocytosis] GO:0046676[negative regulation of insulin secretion] GO:0046872[metal ion binding] GO:0050768[negative regulation of neurogenesis] GO:0060379[cardiac muscle cell myoblast differentiation] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0071257[cellular response to electrical stimulus] GO:0071385[cellular response to glucocorticoid stimulus] GO:0071466[cellular response to xenobiotic stimulus] GO:0097150[neuronal stem cell population maintenance] GO:0099563[modification of synaptic structure] GO:1902459[positive regulation of stem cell population maintenance] GO:1902894[negative regulation of miRNA transcription] GO:1903203[regulation of oxidative stress-induced neuron death] GO:1903204[negative regulation of oxidative stress-induced neuron death] GO:1903223[positive regulation of oxidative stress-induced neuron death] GO:2000065[negative regulation of cortisol biosynthetic process] GO:2000706[negative regulation of dense core granule biogenesis] GO:2000740[negative regulation of mesenchymal stem cell differentiation] GO:2000798[negative regulation of amniotic stem cell differentiation]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cancers Cancers of the urinary system Digestive system diseases Mouth and dental diseases Nervous system diseases Ear disease Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cancers Cancers of the urinary system Digestive system diseases Mouth and dental diseases Nervous system diseases Ear disease Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cancers Cancers of the urinary system Digestive system diseases Mouth and dental diseases Nervous system diseases Ear disease Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cancers Cancers of the urinary system Digestive system diseases Mouth and dental diseases Nervous system diseases Ear disease Protein evidence (Ezkurdia et al 2014)
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GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0005634[nucleus] GO:0006357[regulation of transcription by RNA polymerase II] GO:0043065[positive regulation of apoptotic process] GO:0045665[negative regulation of neuron differentiation] GO:0050768[negative regulation of neurogenesis]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cancers Cancers of the urinary system Digestive system diseases Mouth and dental diseases Nervous system diseases Ear disease Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005829[cytosol] GO:0006357[regulation of transcription by RNA polymerase II] GO:0043065[positive regulation of apoptotic process] GO:0045665[negative regulation of neuron differentiation] GO:0050768[negative regulation of neurogenesis]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cancers Cancers of the urinary system Digestive system diseases Mouth and dental diseases Nervous system diseases Ear disease Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cancers Cancers of the urinary system Digestive system diseases Mouth and dental diseases Nervous system diseases Ear disease Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Human disease related genes Cancers Cancers of the urinary system Digestive system diseases Mouth and dental diseases Nervous system diseases Ear disease Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000381[regulation of alternative mRNA splicing, via spliceosome] GO:0000976[transcription cis-regulatory region 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:0001227[DNA-binding transcription repressor activity, RNA polymerase II-specific] GO:0001666[response to hypoxia] GO:0002931[response to ischemia] GO:0003682[chromatin binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0008285[negative regulation of cell population proliferation] GO:0010468[regulation of gene expression] GO:0010629[negative regulation of gene expression] GO:0017053[transcription repressor complex] GO:0032348[negative regulation of aldosterone biosynthetic process] GO:0035019[somatic stem cell population maintenance] GO:0043065[positive regulation of apoptotic process] GO:0043280[positive regulation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0043922[negative regulation by host of viral transcription] GO:0045665[negative regulation of neuron differentiation] GO:0045666[positive regulation of neuron differentiation] GO:0045667[regulation of osteoblast differentiation] 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:0045955[negative regulation of calcium ion-dependent exocytosis] GO:0046676[negative regulation of insulin secretion] GO:0046872[metal ion binding] GO:0050768[negative regulation of neurogenesis] GO:0060379[cardiac muscle cell myoblast differentiation] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0071257[cellular response to electrical stimulus] GO:0071385[cellular response to glucocorticoid stimulus] GO:0071466[cellular response to xenobiotic stimulus] GO:0097150[neuronal stem cell population maintenance] GO:0099563[modification of synaptic structure] GO:1902459[positive regulation of stem cell population maintenance] GO:1902894[negative regulation of miRNA transcription] GO:1903203[regulation of oxidative stress-induced neuron death] GO:1903204[negative regulation of oxidative stress-induced neuron death] GO:1903223[positive regulation of oxidative stress-induced neuron death] GO:2000065[negative regulation of cortisol biosynthetic process] GO:2000706[negative regulation of dense core granule biogenesis] GO:2000740[negative regulation of mesenchymal stem cell differentiation] GO:2000798[negative regulation of amniotic stem cell differentiation]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cancers Cancers of the urinary system Digestive system diseases Mouth and dental diseases Nervous system diseases Ear disease Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0005634[nucleus] GO:0006357[regulation of transcription by RNA polymerase II] GO:0043065[positive regulation of apoptotic process] GO:0045665[negative regulation of neuron differentiation] GO:0050768[negative regulation of neurogenesis]
The Human Protein Atlas project is funded
