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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.
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
6
Cytoband
q23.1
Chromosome location (bp)
130013699 - 130141449
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Is a negative regulator of Notch target genes expression, required for RBPJ-mediated transcriptional repression 1. It recruits KDM1A to Notch-responsive elements and promotes KDM1A-mediated H3K4me demethylation 2. Involved in the regulation of ubiquitin-dependent degradation of a set of methylated non-histone proteins, including SOX2, DNMT1 and E2F1. It acts as an adapter recruiting the CRL4-DCAF5 E3 ubiquitin ligase complex to methylated target proteins 3,4. Required for normal maturation of myeloid progenitor cells (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Chromatin regulator
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 encodes a member of the malignant brain tumor (MBT) family of chromatin interacting transcriptional repressors. Members of this family function as methyl-lysine readers, which recognize methylated lysine residues on histone protein tails, and are associated with the repression of gene expression. The encoded protein may regulate hematopoiesis. Homozygous deletion of this gene has been observed in human patients with medulloblastoma. [provided by RefSeq, Oct 2016]...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.
Q96JM7 [Direct mapping] Lethal(3)malignant brain tumor-like protein 3
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005730[nucleolus] GO:0006325[chromatin organization] GO:0006355[regulation of DNA-templated transcription] GO:0008270[zinc ion binding] GO:0030099[myeloid cell differentiation] GO:0030225[macrophage differentiation] GO:0030851[granulocyte differentiation] GO:0042393[histone binding] GO:0042802[identical protein binding] GO:0043249[erythrocyte maturation] GO:0045892[negative regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0090308[regulation of DNA methylation-dependent heterochromatin formation] GO:0140034[methylation-dependent protein binding] GO:2000058[regulation of ubiquitin-dependent protein catabolic process] GO:2000060[positive regulation of ubiquitin-dependent protein catabolic process]
Q96JM7 [Direct mapping] Lethal(3)malignant brain tumor-like protein 3
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005730[nucleolus] GO:0006325[chromatin organization] GO:0006355[regulation of DNA-templated transcription] GO:0008270[zinc ion binding] GO:0042393[histone binding] GO:0042802[identical protein binding] GO:0045892[negative regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0090308[regulation of DNA methylation-dependent heterochromatin formation] GO:0140034[methylation-dependent protein binding] GO:2000060[positive regulation of ubiquitin-dependent protein catabolic process]
Q96JM7 [Direct mapping] Lethal(3)malignant brain tumor-like protein 3
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005730[nucleolus] GO:0006325[chromatin organization] GO:0006355[regulation of DNA-templated transcription] GO:0008270[zinc ion binding] GO:0042393[histone binding] GO:0042802[identical protein binding] GO:0045892[negative regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0090308[regulation of DNA methylation-dependent heterochromatin formation] GO:0140034[methylation-dependent protein binding] GO:2000060[positive regulation of ubiquitin-dependent protein catabolic process]
Q96JM7 [Direct mapping] Lethal(3)malignant brain tumor-like protein 3
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005730[nucleolus] GO:0006325[chromatin organization] GO:0006355[regulation of DNA-templated transcription] GO:0008270[zinc ion binding] GO:0042393[histone binding] GO:0042802[identical protein binding] GO:0045892[negative regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0090308[regulation of DNA methylation-dependent heterochromatin formation] GO:0140034[methylation-dependent protein binding] GO:2000060[positive regulation of ubiquitin-dependent protein catabolic process]
E9PI01 [Direct mapping] Lethal(3)malignant brain tumor-like protein 3
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SCAMPI predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014)
Q96JM7 [Direct mapping] Lethal(3)malignant brain tumor-like protein 3
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005730[nucleolus] GO:0006325[chromatin organization] GO:0006355[regulation of DNA-templated transcription] GO:0008270[zinc ion binding] GO:0042393[histone binding] GO:0042802[identical protein binding] GO:0045892[negative regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0090308[regulation of DNA methylation-dependent heterochromatin formation] GO:0140034[methylation-dependent protein binding] GO:2000060[positive regulation of ubiquitin-dependent protein catabolic process]
The Human Protein Atlas project is funded
