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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.
Transformation/transcription domain associated protein
Protein classi
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes 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
7
Cytoband
q22.1
Chromosome location (bp)
98877933 - 99050831
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Adapter protein, which is found in various multiprotein chromatin complexes with histone acetyltransferase activity (HAT), which gives a specific tag for epigenetic transcription activation. Component of the NuA4 histone acetyltransferase complex which is responsible for acetylation of nucleosomal histones H4 and H2A. Plays a central role in MYC transcription activation, and also participates in cell transformation by MYC. Required for p53/TP53-, E2F1- and E2F4-mediated transcription activation. Also involved in transcription activation mediated by the adenovirus E1A, a viral oncoprotein that deregulates transcription of key genes. Probably acts by linking transcription factors such as E1A, MYC or E2F1 to HAT complexes such as STAGA thereby allowing transcription activation. Probably not required in the steps following histone acetylation in processes of transcription activation. May be required for the mitotic checkpoint and normal cell cycle progression. Component of a SWR1-like complex that specifically mediates the removal of histone H2A.Z/H2AZ1 from the nucleosome. May play a role in the formation and maintenance of the auditory system (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator, Chromatin regulator
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 large multidomain protein of the phosphoinositide 3-kinase-related kinases (PIKK) family. The encoded protein is a common component of many histone acetyltransferase (HAT) complexes and plays a role in transcription and DNA repair by recruiting HAT complexes to chromatin. Deregulation of this gene may play a role in several types of cancer including glioblastoma multiforme. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]...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.
Q9Y4A5 [Direct mapping] Transformation/transcription domain-associated protein
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MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes Human disease related genes 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:0000123[histone acetyltransferase complex] GO:0000124[SAGA complex] GO:0000786[nucleosome] GO:0000812[Swr1 complex] GO:0003712[transcription coregulator activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005794[Golgi apparatus] GO:0006281[DNA repair] GO:0006282[regulation of DNA repair] GO:0006325[chromatin organization] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0016573[histone acetylation] GO:0018193[peptidyl-amino acid modification] GO:0019219[regulation of nucleobase-containing compound metabolic process] GO:0033276[transcription factor TFTC complex] GO:0035267[NuA4 histone acetyltransferase complex] GO:0035521[monoubiquitinated histone deubiquitination] GO:0035522[monoubiquitinated histone H2A deubiquitination] GO:0042981[regulation of apoptotic process] GO:0043484[regulation of RNA splicing] GO:0043966[histone H3 acetylation] GO:0043967[histone H4 acetylation] GO:0043968[histone H2A acetylation] GO:0045893[positive regulation of DNA-templated transcription] GO:0048584[positive regulation of response to stimulus] GO:0051726[regulation of cell cycle] GO:0080135[regulation of cellular response to stress] GO:1905168[positive regulation of double-strand break repair via homologous recombination] GO:2000779[regulation of double-strand break repair]
Q9Y4A5 [Direct mapping] Transformation/transcription domain-associated protein
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MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes Human disease related genes 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:0000123[histone acetyltransferase complex] GO:0000124[SAGA complex] GO:0000786[nucleosome] GO:0000812[Swr1 complex] GO:0003712[transcription coregulator activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005794[Golgi apparatus] GO:0006281[DNA repair] GO:0006282[regulation of DNA repair] GO:0006325[chromatin organization] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0016573[histone acetylation] GO:0018193[peptidyl-amino acid modification] GO:0019219[regulation of nucleobase-containing compound metabolic process] GO:0033276[transcription factor TFTC complex] GO:0035267[NuA4 histone acetyltransferase complex] GO:0035521[monoubiquitinated histone deubiquitination] GO:0035522[monoubiquitinated histone H2A deubiquitination] GO:0042981[regulation of apoptotic process] GO:0043484[regulation of RNA splicing] GO:0043966[histone H3 acetylation] GO:0043967[histone H4 acetylation] GO:0043968[histone H2A acetylation] GO:0045893[positive regulation of DNA-templated transcription] GO:0048584[positive regulation of response to stimulus] GO:0051726[regulation of cell cycle] GO:0080135[regulation of cellular response to stress] GO:1905168[positive regulation of double-strand break repair via homologous recombination] GO:2000779[regulation of double-strand break repair]
C9K0N1 [Direct mapping] Transformation/transcription domain-associated protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Nervous system diseases Ear disease Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Nervous system diseases Ear disease Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
