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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 Enzymes Human disease related genes Metabolic proteins Plasma proteins Potential drug targets 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
16
Cytoband
p11.2
Chromosome location (bp)
31114489 - 31131393
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Histone acetyltransferase that catalyzes histone H4 acetylation at 'Lys-5'- and 'Lys-8' (H4K5ac and H4K8ac) or 'Lys-16' (H4K16ac), depending on the context 1,2,3,4,5,6,7,8,9. Catalytic component of the MSL histone acetyltransferase complex, a multiprotein complex that mediates the majority of histone H4 acetylation at 'Lys-16' (H4K16ac), an epigenetic mark that prevents chromatin compaction 10,11,12,13,14,15,16,17. H4K16ac constitutes the only acetylation mark intergenerationally transmitted and regulates key biological processes, such as oogenesis, embryonic stem cell pluripotency, hematopoiesis or glucose metabolism (By similarity). The MSL complex is required for chromosome stability and genome integrity by maintaining homeostatic levels of H4K16ac 18. The MSL complex is also involved in gene dosage by promoting up-regulation of genes expressed by the X chromosome (By similarity). X up-regulation is required to compensate for autosomal biallelic expression (By similarity). The MSL complex also participates in gene dosage compensation by promoting expression of Tsix non-coding RNA (By similarity). As part of the NSL histone acetyltransferase complex, catalyzes histone H4 acetylation at 'Lys-5'- and 'Lys-8' (H4K5ac and H4K8ac) at transcription start sites and promotes transcription initiation 19,20,21. The NSL complex also acts as a regulator of gene expression in mitochondria: KAT8 associates with mitochondrial DNA and controls expression of respiratory genes in an acetyltransferase-dependent mechanism 22. Also functions as an acetyltransferase for non-histone targets, such as ALKBH5, COX17, IRF3, KDM1A/LSD1, LMNA, PAX7 or TP53/p53 23,24,25. Acts as an inhibitor of antiviral immunity by acetylating IRF3, preventing IRF3 recruitment to promoters (By similarity). Acts as a regulator of asymmetric division in muscle stem cells by mediating acetylation of PAX7 (By similarity). As part of the NSL complex, acetylates TP53/p53 at 'Lys-120' 26,27. Acts as a regulator of epithelial-to-mesenchymal transition as part of the NSL complex by mediating acetylation of KDM1A/LSD1 28. The NSL complex is required for nuclear architecture maintenance by mediating acetylation of LMNA (By similarity). Promotes mitochondrial integrity by catalyzing acetylation of COX17 (By similarity). In addition to protein acetyltransferase activity, able to mediate protein propionylation 29....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
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 MYST histone acetylase protein family. The encoded protein has a characteristic MYST domain containing an acetyl-CoA-binding site, a chromodomain typical of proteins which bind histones, and a C2HC-type zinc finger. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]...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.
Enzymes ENZYME proteins Transferases Metabolic proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Potential drug targets Human disease related genes Congenital malformations Congenital malformations of the nervous system 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:0000123[histone acetyltransferase complex] GO:0000776[kinetochore] GO:0003712[transcription coregulator activity] GO:0003713[transcription coactivator activity] GO:0004402[histone acetyltransferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0006325[chromatin organization] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0010506[regulation of autophagy] GO:0016363[nuclear matrix] GO:0016407[acetyltransferase activity] GO:0016573[histone acetylation] GO:0016740[transferase activity] GO:0016746[acyltransferase activity] GO:0019899[enzyme binding] GO:0022008[neurogenesis] GO:0030099[myeloid cell differentiation] GO:0042393[histone binding] GO:0043981[histone H4-K5 acetylation] GO:0043982[histone H4-K8 acetylation] GO:0043984[histone H4-K16 acetylation] GO:0043995[histone acetyltransferase activity (H4-K5 specific)] GO:0043996[histone acetyltransferase activity (H4-K8 specific)] GO:0044545[NSL complex] 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:0046872[metal ion binding] GO:0046972[histone acetyltransferase activity (H4-K16 specific)] GO:0051571[positive regulation of histone H3-K4 methylation] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0071339[MLL1 complex] GO:0072487[MSL complex] GO:1900095[regulation of dosage compensation by inactivation of X chromosome]
Enzymes ENZYME proteins Transferases Metabolic proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Potential drug targets Human disease related genes Congenital malformations Congenital malformations of the nervous system 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:0000123[histone acetyltransferase complex] GO:0003712[transcription coregulator activity] GO:0003713[transcription coactivator activity] GO:0004402[histone acetyltransferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0006325[chromatin organization] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0010506[regulation of autophagy] GO:0016573[histone acetylation] GO:0016740[transferase activity] GO:0016746[acyltransferase activity] GO:0022008[neurogenesis] GO:0030099[myeloid cell differentiation] GO:0042393[histone binding] GO:0043981[histone H4-K5 acetylation] GO:0043982[histone H4-K8 acetylation] GO:0043984[histone H4-K16 acetylation] GO:0043995[histone acetyltransferase activity (H4-K5 specific)] GO:0043996[histone acetyltransferase activity (H4-K8 specific)] GO:0044545[NSL complex] 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:0046872[metal ion binding] GO:0046972[histone acetyltransferase activity (H4-K16 specific)] GO:0051571[positive regulation of histone H3-K4 methylation] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0071339[MLL1 complex] GO:0072487[MSL complex] GO:1900095[regulation of dosage compensation by inactivation of X chromosome]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Transferases Metabolic proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Potential drug targets Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000123[histone acetyltransferase complex] GO:0003712[transcription coregulator activity] GO:0003713[transcription coactivator activity] GO:0004402[histone acetyltransferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0006325[chromatin organization] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0010506[regulation of autophagy] GO:0016573[histone acetylation] GO:0016740[transferase activity] GO:0016746[acyltransferase activity] GO:0022008[neurogenesis] GO:0030099[myeloid cell differentiation] GO:0042393[histone binding] GO:0043981[histone H4-K5 acetylation] GO:0043982[histone H4-K8 acetylation] GO:0043984[histone H4-K16 acetylation] GO:0043995[histone acetyltransferase activity (H4-K5 specific)] GO:0043996[histone acetyltransferase activity (H4-K8 specific)] GO:0044545[NSL complex] 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:0046872[metal ion binding] GO:0046972[histone acetyltransferase activity (H4-K16 specific)] GO:0051571[positive regulation of histone H3-K4 methylation] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0071339[MLL1 complex] GO:0072487[MSL complex] GO:1900095[regulation of dosage compensation by inactivation of X chromosome]
Metabolic proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
