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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
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
X
Cytoband
p22.2
Chromosome location (bp)
11758159 - 11775772
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Non-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 1,2,3,4,5,6,7,8. The MSL complex is required for chromosome stability and genome integrity by maintaining homeostatic levels of H4K16ac 9. 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). Acts as a histone reader that specifically recognizes and binds histone H4 monomethylated at 'Lys-20' (H4K20Me1) in a DNA-dependent manner and is proposed to be involved in chromosomal targeting of the MSL complex 10,11. May play a role X inactivation in females 12....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Chromatin regulator, DNA-binding
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 gene encodes a nuclear protein that is similar to the product of the Drosophila male-specific lethal-3 gene. The Drosophila protein plays a critical role in a dosage-compensation pathway, which equalizes X-linked gene expression in males and females. Thus, the human protein is thought to play a similar function in chromatin remodeling and transcriptional regulation, and it has been found as part of a complex that is responsible for histone H4 lysine-16 acetylation. This gene can undergo X inactivation. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2, 7 and 8. [provided by RefSeq, Jul 2010]...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.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Other diseases Mental and behavioural disorders 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:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006325[chromatin organization] GO:0006355[regulation of DNA-templated transcription] GO:0010468[regulation of gene expression] GO:0016573[histone acetylation] GO:0016575[histone deacetylation] GO:0035064[methylated histone binding] GO:0035267[NuA4 histone acetyltransferase complex] GO:0043967[histone H4 acetylation] GO:0043968[histone H2A acetylation] GO:0043984[histone H4-K16 acetylation] GO:0045893[positive regulation of DNA-templated transcription] GO:0046972[histone acetyltransferase activity (H4-K16 specific)] GO:0051171[regulation of nitrogen compound metabolic process] GO:0072487[MSL complex] GO:0080090[regulation of primary metabolic process] GO:1900095[regulation of dosage compensation by inactivation of X chromosome]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000123[histone acetyltransferase complex] GO:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006325[chromatin organization] GO:0006355[regulation of DNA-templated transcription] GO:0010468[regulation of gene expression] GO:0016573[histone acetylation] GO:0016575[histone deacetylation] GO:0035064[methylated histone binding] GO:0035267[NuA4 histone acetyltransferase complex] GO:0043967[histone H4 acetylation] GO:0043968[histone H2A acetylation] GO:0043984[histone H4-K16 acetylation] GO:0045893[positive regulation of DNA-templated transcription] GO:0046972[histone acetyltransferase activity (H4-K16 specific)] GO:0051171[regulation of nitrogen compound metabolic process] GO:0072487[MSL complex] GO:0080090[regulation of primary metabolic process] GO:1900095[regulation of dosage compensation by inactivation of X chromosome]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000123[histone acetyltransferase complex] GO:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006325[chromatin organization] GO:0006355[regulation of DNA-templated transcription] GO:0010468[regulation of gene expression] GO:0016573[histone acetylation] GO:0016575[histone deacetylation] GO:0035064[methylated histone binding] GO:0035267[NuA4 histone acetyltransferase complex] GO:0043967[histone H4 acetylation] GO:0043968[histone H2A acetylation] GO:0043984[histone H4-K16 acetylation] GO:0045893[positive regulation of DNA-templated transcription] GO:0046972[histone acetyltransferase activity (H4-K16 specific)] GO:0051171[regulation of nitrogen compound metabolic process] GO:0072487[MSL complex] GO:0080090[regulation of primary metabolic process] GO:1900095[regulation of dosage compensation by inactivation of X chromosome]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000123[histone acetyltransferase complex] GO:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006325[chromatin organization] GO:0006355[regulation of DNA-templated transcription] GO:0010468[regulation of gene expression] GO:0016573[histone acetylation] GO:0016575[histone deacetylation] GO:0035064[methylated histone binding] GO:0035267[NuA4 histone acetyltransferase complex] GO:0043967[histone H4 acetylation] GO:0043968[histone H2A acetylation] GO:0043984[histone H4-K16 acetylation] GO:0045893[positive regulation of DNA-templated transcription] GO:0046972[histone acetyltransferase activity (H4-K16 specific)] GO:0051171[regulation of nitrogen compound metabolic process] GO:0072487[MSL complex] GO:0080090[regulation of primary metabolic process] GO:1900095[regulation of dosage compensation by inactivation of X chromosome]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000123[histone acetyltransferase complex] GO:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006325[chromatin organization] GO:0006355[regulation of DNA-templated transcription] GO:0010468[regulation of gene expression] GO:0016573[histone acetylation] GO:0016575[histone deacetylation] GO:0035064[methylated histone binding] GO:0035267[NuA4 histone acetyltransferase complex] GO:0043967[histone H4 acetylation] GO:0043968[histone H2A acetylation] GO:0043984[histone H4-K16 acetylation] GO:0045893[positive regulation of DNA-templated transcription] GO:0046972[histone acetyltransferase activity (H4-K16 specific)] GO:0051171[regulation of nitrogen compound metabolic process] GO:0072487[MSL complex] GO:0080090[regulation of primary metabolic process] GO:1900095[regulation of dosage compensation by inactivation of X chromosome]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000123[histone acetyltransferase complex] GO:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006325[chromatin organization] GO:0006355[regulation of DNA-templated transcription] GO:0010468[regulation of gene expression] GO:0016573[histone acetylation] GO:0016575[histone deacetylation] GO:0035064[methylated histone binding] GO:0035267[NuA4 histone acetyltransferase complex] GO:0043967[histone H4 acetylation] GO:0043968[histone H2A acetylation] GO:0043984[histone H4-K16 acetylation] GO:0045893[positive regulation of DNA-templated transcription] GO:0046972[histone acetyltransferase activity (H4-K16 specific)] GO:0051171[regulation of nitrogen compound metabolic process] GO:0072487[MSL complex] GO:0080090[regulation of primary metabolic process] GO:1900095[regulation of dosage compensation by inactivation of X chromosome]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
MEMSAT-SVM predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000123[histone acetyltransferase complex] GO:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006325[chromatin organization] GO:0006355[regulation of DNA-templated transcription] GO:0010468[regulation of gene expression] GO:0016573[histone acetylation] GO:0016575[histone deacetylation] GO:0035064[methylated histone binding] GO:0035267[NuA4 histone acetyltransferase complex] GO:0043967[histone H4 acetylation] GO:0043968[histone H2A acetylation] GO:0043984[histone H4-K16 acetylation] GO:0045893[positive regulation of DNA-templated transcription] GO:0046972[histone acetyltransferase activity (H4-K16 specific)] GO:0051171[regulation of nitrogen compound metabolic process] GO:0072487[MSL complex] GO:0080090[regulation of primary metabolic process] GO:1900095[regulation of dosage compensation by inactivation of X chromosome]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000123[histone acetyltransferase complex] GO:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006325[chromatin organization] GO:0006355[regulation of DNA-templated transcription] GO:0010468[regulation of gene expression] GO:0016573[histone acetylation] GO:0016575[histone deacetylation] GO:0035064[methylated histone binding] GO:0035267[NuA4 histone acetyltransferase complex] GO:0043967[histone H4 acetylation] GO:0043968[histone H2A acetylation] GO:0043984[histone H4-K16 acetylation] GO:0045893[positive regulation of DNA-templated transcription] GO:0046972[histone acetyltransferase activity (H4-K16 specific)] GO:0051171[regulation of nitrogen compound metabolic process] GO:0072487[MSL complex] GO:0080090[regulation of primary metabolic process] GO:1900095[regulation of dosage compensation by inactivation of X chromosome]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000123[histone acetyltransferase complex] GO:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006325[chromatin organization] GO:0006355[regulation of DNA-templated transcription] GO:0010468[regulation of gene expression] GO:0016573[histone acetylation] GO:0016575[histone deacetylation] GO:0035064[methylated histone binding] GO:0035267[NuA4 histone acetyltransferase complex] GO:0043967[histone H4 acetylation] GO:0043968[histone H2A acetylation] GO:0043984[histone H4-K16 acetylation] GO:0045893[positive regulation of DNA-templated transcription] GO:0046972[histone acetyltransferase activity (H4-K16 specific)] GO:0051171[regulation of nitrogen compound metabolic process] GO:0072487[MSL complex] GO:0080090[regulation of primary metabolic process] GO:1900095[regulation of dosage compensation by inactivation of X chromosome]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000123[histone acetyltransferase complex] GO:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006325[chromatin organization] GO:0006355[regulation of DNA-templated transcription] GO:0010468[regulation of gene expression] GO:0016573[histone acetylation] GO:0016575[histone deacetylation] GO:0035064[methylated histone binding] GO:0035267[NuA4 histone acetyltransferase complex] GO:0043967[histone H4 acetylation] GO:0043968[histone H2A acetylation] GO:0043984[histone H4-K16 acetylation] GO:0045893[positive regulation of DNA-templated transcription] GO:0046972[histone acetyltransferase activity (H4-K16 specific)] GO:0051171[regulation of nitrogen compound metabolic process] GO:0072487[MSL complex] GO:0080090[regulation of primary metabolic process] GO:1900095[regulation of dosage compensation by inactivation of X chromosome]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000123[histone acetyltransferase complex] GO:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006325[chromatin organization] GO:0006355[regulation of DNA-templated transcription] GO:0010468[regulation of gene expression] GO:0016573[histone acetylation] GO:0016575[histone deacetylation] GO:0035064[methylated histone binding] GO:0035267[NuA4 histone acetyltransferase complex] GO:0043967[histone H4 acetylation] GO:0043968[histone H2A acetylation] GO:0043984[histone H4-K16 acetylation] GO:0045893[positive regulation of DNA-templated transcription] GO:0046972[histone acetyltransferase activity (H4-K16 specific)] GO:0051171[regulation of nitrogen compound metabolic process] GO:0072487[MSL complex] GO:0080090[regulation of primary metabolic process] GO:1900095[regulation of dosage compensation by inactivation of X chromosome]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000123[histone acetyltransferase complex] GO:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006325[chromatin organization] GO:0006355[regulation of DNA-templated transcription] GO:0010468[regulation of gene expression] GO:0016573[histone acetylation] GO:0016575[histone deacetylation] GO:0035064[methylated histone binding] GO:0035267[NuA4 histone acetyltransferase complex] GO:0043967[histone H4 acetylation] GO:0043968[histone H2A acetylation] GO:0043984[histone H4-K16 acetylation] GO:0045893[positive regulation of DNA-templated transcription] GO:0046972[histone acetyltransferase activity (H4-K16 specific)] GO:0051171[regulation of nitrogen compound metabolic process] GO:0072487[MSL complex] GO:0080090[regulation of primary metabolic process] GO:1900095[regulation of dosage compensation by inactivation of X chromosome]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000123[histone acetyltransferase complex] GO:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006325[chromatin organization] GO:0006355[regulation of DNA-templated transcription] GO:0010468[regulation of gene expression] GO:0016573[histone acetylation] GO:0016575[histone deacetylation] GO:0035064[methylated histone binding] GO:0035267[NuA4 histone acetyltransferase complex] GO:0043967[histone H4 acetylation] GO:0043968[histone H2A acetylation] GO:0043984[histone H4-K16 acetylation] GO:0045893[positive regulation of DNA-templated transcription] GO:0046972[histone acetyltransferase activity (H4-K16 specific)] GO:0051171[regulation of nitrogen compound metabolic process] GO:0072487[MSL complex] GO:0080090[regulation of primary metabolic process] GO:1900095[regulation of dosage compensation by inactivation of X chromosome]