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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
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
17
Cytoband
q21.33
Chromosome location (bp)
51177425 - 51260163
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Chromatin reader component of the NuA4 histone acetyltransferase complex, a multiprotein complex involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A 1,2. The NuA4 complex plays a direct role in repair of DNA double-strand breaks (DSBs) by promoting homologous recombination (HR) 3. MBTD1 specifically recognizes and binds monomethylated and dimethylated 'Lys-20' on histone H4 (H4K20me1 and H4K20me2, respectively) 4,5,6. In the NuA4 complex, MBTD1 promotes recruitment of the complex to H4K20me marks by competing with TP53BP1 for binding to H4K20me 7. Following recruitment to H4K20me at DNA breaks, the NuA4 complex catalyzes acetylation of 'Lys-15' on histone H2A (H2AK15), blocking the ubiquitination mark required for TP53BP1 localization at DNA breaks, thereby promoting homologous recombination (HR) 8....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
Enables methylated histone binding activity. Predicted to be involved in negative regulation of transcription, DNA-templated. Predicted to act upstream of or within embryonic skeletal system development. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]...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 Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
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 length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Q05BQ5 [Direct mapping] MBT domain-containing protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000724[double-strand break repair via homologous recombination] GO:0000786[nucleosome] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005694[chromosome] GO:0006325[chromatin organization] GO:0006355[regulation of DNA-templated transcription] GO:0008270[zinc ion binding] GO:0016573[histone acetylation] GO:0035064[methylated histone binding] GO:0035267[NuA4 histone acetyltransferase complex] GO:0042393[histone binding] GO:0042981[regulation of apoptotic process] GO:0043967[histone H4 acetylation] GO:0043968[histone H2A acetylation] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0051726[regulation of cell cycle] GO:1905168[positive regulation of double-strand break repair via homologous recombination] GO:2000779[regulation of double-strand break repair]
Q05BQ5 [Direct mapping] MBT domain-containing protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000724[double-strand break repair via homologous recombination] GO:0000786[nucleosome] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005694[chromosome] GO:0006325[chromatin organization] GO:0006355[regulation of DNA-templated transcription] GO:0008270[zinc ion binding] GO:0016573[histone acetylation] GO:0035064[methylated histone binding] GO:0035267[NuA4 histone acetyltransferase complex] GO:0042393[histone binding] GO:0042981[regulation of apoptotic process] GO:0043967[histone H4 acetylation] GO:0043968[histone H2A acetylation] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0051726[regulation of cell cycle] GO:1905168[positive regulation of double-strand break repair via homologous recombination] GO:2000779[regulation of double-strand break repair]
Q05BQ5 [Direct mapping] MBT domain-containing protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes 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:0000724[double-strand break repair via homologous recombination] GO:0000786[nucleosome] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005694[chromosome] GO:0006325[chromatin organization] GO:0006355[regulation of DNA-templated transcription] GO:0008270[zinc ion binding] GO:0016573[histone acetylation] GO:0035064[methylated histone binding] GO:0035267[NuA4 histone acetyltransferase complex] GO:0042393[histone binding] GO:0042981[regulation of apoptotic process] GO:0043967[histone H4 acetylation] GO:0043968[histone H2A acetylation] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0048706[embryonic skeletal system development] GO:0051726[regulation of cell cycle] GO:1905168[positive regulation of double-strand break repair via homologous recombination] GO:2000779[regulation of double-strand break repair]
The Human Protein Atlas project is funded
