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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).
Cancer-related genes Disease related genes Enzymes Human disease related genes Metabolic proteins Potential drug targets
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
22
Cytoband
q13.2
Chromosome location (bp)
41092592 - 41180077
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Functions as a histone acetyltransferase and regulates transcription via chromatin remodeling 1,2,3. Acetylates all four core histones in nucleosomes 4,5,6. Histone acetylation gives an epigenetic tag for transcriptional activation 7,8,9. Mediates acetylation of histone H3 at 'Lys-122' (H3K122ac), a modification that localizes at the surface of the histone octamer and stimulates transcription, possibly by promoting nucleosome instability 10. Mediates acetylation of histone H3 at 'Lys-18' and 'Lys-27' (H3K18ac and H3K27ac, respectively) 11,12. Also able to acetylate histone lysine residues that are already monomethylated on the same side chain to form N6-acetyl-N6-methyllysine (Kacme), an epigenetic mark of active chromatin associated with increased transcriptional initiation 13. Catalyzes formation of histone H4 acetyl-methylated at 'Lys-5' and 'Lys-12' (H4K5acme and H4K12acme, respectively) 14. Also functions as acetyltransferase for non-histone targets, such as ALX1, HDAC1, PRMT1, SIRT2 or STAT3 15,16,17,18,19,20. Acetylates 'Lys-131' of ALX1 and acts as its coactivator 21. Acetylates SIRT2 and is proposed to indirectly increase the transcriptional activity of p53/TP53 through acetylation and subsequent attenuation of SIRT2 deacetylase function 22. Following DNA damage, forms a stress-responsive p53/TP53 coactivator complex with JMY which mediates p53/TP53 acetylation, thereby increasing p53/TP53-dependent transcription and apoptosis 23,24. Promotes chromatin acetylation in heat shock responsive HSP genes during the heat shock response (HSR), thereby stimulating HSR transcription 25. Acetylates HDAC1 leading to its inactivation and modulation of transcription 26. Acetylates 'Lys-247' of EGR2 (By similarity). Acts as a TFAP2A-mediated transcriptional coactivator in presence of CITED2 27. Plays a role as a coactivator of NEUROD1-dependent transcription of the secretin and p21 genes and controls terminal differentiation of cells in the intestinal epithelium. Promotes cardiac myocyte enlargement 28. Can also mediate transcriptional repression. Acetylates FOXO1 and enhances its transcriptional activity 29. Acetylates STAT3 at different sites, promoting both STAT3 dimerization and activation and recruitment to chromatin 30,31,32. Acetylates BCL6 wich disrupts its ability to recruit histone deacetylases and hinders its transcriptional repressor activity 33. Participates in CLOCK or NPAS2-regulated rhythmic gene transcription; exhibits a circadian association with CLOCK or NPAS2, correlating with increase in PER1/2 mRNA and histone H3 acetylation on the PER1/2 promoter 34. Acetylates MTA1 at 'Lys-626' which is essential for its transcriptional coactivator activity 35. Acetylates XBP1 isoform 2; acetylation increases protein stability of XBP1 isoform 2 and enhances its transcriptional activity 36. Acetylates PCNA; acetylation promotes removal of chromatin-bound PCNA and its degradation during nucleotide excision repair (NER) 37. Acetylates MEF2D 38. Acetylates and stabilizes ZBTB7B protein by antagonizing ubiquitin conjugation and degradation, this mechanism may be involved in CD4/CD8 lineage differentiation 39. Acetylates GABPB1, impairing GABPB1 heterotetramerization and activity (By similarity). Acetylates PCK1 and promotes PCK1 anaplerotic activity 40. Acetylates RXRA and RXRG 41. Acetylates isoform M2 of PKM (PKM2), promoting its homodimerization and conversion into a protein kinase 42. Acetylates RPTOR in response to leucine, leading to activation of the mTORC1 complex 43,44. Mediates cAMP-gene regulation by binding specifically to phosphorylated CREBBP 45. In addition to protein acetyltransferase, can use different acyl-CoA substrates, such as (2E)-butenoyl-CoA (crotonyl-CoA), butanoyl-CoA (butyryl-CoA), 2-hydroxyisobutanoyl-CoA (2-hydroxyisobutyryl-CoA), lactoyl-CoA or propanoyl-CoA (propionyl-CoA), and is able to mediate protein crotonylation, butyrylation, 2-hydroxyisobutyrylation, lactylation or propionylation, respectively 46,47,48,49. Acts as a histone crotonyltransferase; crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors 50. Histone crotonyltransferase activity is dependent on the concentration of (2E)-butenoyl-CoA (crotonyl-CoA) substrate and such activity is weak when (2E)-butenoyl-CoA (crotonyl-CoA) concentration is low 51. Also acts as a histone butyryltransferase; butyrylation marks active promoters 52. Catalyzes histone lactylation in macrophages by using lactoyl-CoA directly derived from endogenous or exogenous lactate, leading to stimulates gene transcription 53. Acts as a protein-lysine 2-hydroxyisobutyryltransferase; regulates glycolysis by mediating 2-hydroxyisobutyrylation of glycolytic enzymes 54. Functions as a transcriptional coactivator for SMAD4 in the TGF-beta signaling pathway 55....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Acyltransferase, Transferase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
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 the adenovirus E1A-associated cellular p300 transcriptional co-activator protein. It functions as histone acetyltransferase that regulates transcription via chromatin remodeling and is important in the processes of cell proliferation and differentiation. It mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. This gene has also been identified as a co-activator of HIF1A (hypoxia-inducible factor 1 alpha), and thus plays a role in the stimulation of hypoxia-induced genes such as VEGF. Defects in this gene are a cause of Rubinstein-Taybi syndrome and may also play a role in epithelial cancer. [provided by RefSeq, Jul 2008]...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 Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations COSMIC Translocations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations 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:0000122[negative regulation of transcription by RNA polymerase II] GO:0000123[histone acetyltransferase complex] GO:0001221[transcription coregulator binding] GO:0001223[transcription coactivator binding] GO:0001666[response to hypoxia] GO:0001756[somitogenesis] GO:0001966[thigmotaxis] GO:0002039[p53 binding] GO:0002209[behavioral defense response] GO:0002223[stimulatory C-type lectin receptor signaling pathway] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003684[damaged DNA binding] GO:0003712[transcription coregulator activity] GO:0003713[transcription coactivator activity] GO:0004402[histone acetyltransferase activity] GO:0004468[lysine N-acetyltransferase activity, acting on acetyl phosphate as donor] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005694[chromosome] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006110[regulation of glycolytic process] GO:0006338[chromatin remodeling] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006366[transcription by RNA polymerase II] GO:0006473[protein acetylation] GO:0006475[internal protein amino acid acetylation] GO:0006915[apoptotic process] GO:0007049[cell cycle] GO:0007399[nervous system development] GO:0007507[heart development] GO:0007519[skeletal muscle tissue development] GO:0007611[learning or memory] GO:0007623[circadian rhythm] GO:0008013[beta-catenin binding] GO:0008022[protein C-terminus binding] GO:0008270[zinc ion binding] GO:0009887[animal organ morphogenesis] GO:0010484[H3 histone acetyltransferase activity] GO:0010485[histone H4 acetyltransferase activity] GO:0010506[regulation of autophagy] GO:0010628[positive regulation of gene expression] GO:0010742[macrophage derived foam cell differentiation] GO:0010821[regulation of mitochondrion organization] GO:0010976[positive regulation of neuron projection development] GO:0016407[acetyltransferase activity] GO:0016573[histone acetylation] GO:0016740[transferase activity] GO:0016746[acyltransferase activity] GO:0016922[nuclear receptor binding] GO:0018076[N-terminal peptidyl-lysine acetylation] GO:0018393[internal peptidyl-lysine acetylation] GO:0018394[peptidyl-lysine acetylation] GO:0030183[B cell differentiation] GO:0030220[platelet formation] GO:0030324[lung development] GO:0030511[positive regulation of transforming growth factor beta receptor signaling pathway] GO:0031333[negative regulation of protein-containing complex assembly] GO:0031490[chromatin DNA binding] GO:0031648[protein destabilization] GO:0032092[positive regulation of protein binding] GO:0032991[protein-containing complex] GO:0032993[protein-DNA complex] GO:0034212[peptide N-acetyltransferase activity] GO:0034644[cellular response to UV] GO:0035264[multicellular organism growth] GO:0035855[megakaryocyte development] GO:0036268[swimming] GO:0042771[intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator] GO:0043229[intracellular organelle] GO:0043627[response to estrogen] GO:0043923[positive regulation by host of viral transcription] GO:0044013[H2B histone acetyltransferase activity] GO:0045444[fat cell differentiation] GO:0045721[negative regulation of gluconeogenesis] GO:0045815[transcriptional initiation-coupled chromatin remodeling] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0048156[tau protein binding] GO:0048511[rhythmic process] GO:0050681[nuclear androgen receptor binding] GO:0050821[protein stabilization] GO:0050896[response to stimulus] GO:0051059[NF-kappaB binding] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0051092[positive regulation of NF-kappaB transcription factor activity] GO:0060325[face morphogenesis] GO:0060765[regulation of androgen receptor signaling pathway] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0061733[peptide-lysine-N-acetyltransferase activity] GO:0061920[protein propionyltransferase activity] GO:0061921[peptidyl-lysine propionylation] GO:0090043[regulation of tubulin deacetylation] GO:0097157[pre-mRNA intronic binding] GO:0097677[STAT family protein binding] GO:0106226[peptide 2-hydroxyisobutyryltransferase activity] GO:0120300[peptide lactyltransferase activity] GO:0120301[histone lactyltransferase activity] GO:0140064[peptide crotonyltransferase activity] GO:0140065[peptide butyryltransferase activity] GO:0140066[peptidyl-lysine crotonylation] GO:0140067[peptidyl-lysine butyrylation] GO:0140068[histone crotonyltransferase activity] GO:0140069[histone butyryltransferase activity] GO:0140297[DNA-binding transcription factor binding] GO:0140908[] GO:1900034[regulation of cellular response to heat] GO:1901224[positive regulation of NIK/NF-kappaB signaling] GO:1901796[regulation of signal transduction by p53 class mediator] GO:1905636[positive regulation of RNA polymerase II regulatory region sequence-specific DNA binding]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
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GO:0003712[transcription coregulator activity] GO:0004402[histone acetyltransferase activity] GO:0005634[nucleus] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0016573[histone acetylation] GO:0016740[transferase activity] GO:0045944[positive regulation of transcription by RNA polymerase II]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)