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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 Plasma 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
16
Cytoband
p13.3
Chromosome location (bp)
3725054 - 3880713
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Acetylates histones, giving a specific tag for transcriptional activation 1. Also acetylates non-histone proteins, like DDX21, FBL, IRF2, MAFG, NCOA3, POLR1E/PAF53 and FOXO1 2,3,4,5,6,7,8,9,10. Binds specifically to phosphorylated CREB and enhances its transcriptional activity toward cAMP-responsive genes. Acts as a coactivator of ALX1. Acts as a circadian transcriptional coactivator which enhances the activity of the circadian transcriptional activators: NPAS2-BMAL1 and CLOCK-BMAL1 heterodimers 11. Acetylates PCNA; acetylation promotes removal of chromatin-bound PCNA and its degradation during nucleotide excision repair (NER) 12. Acetylates POLR1E/PAF53, leading to decreased association of RNA polymerase I with the rDNA promoter region and coding region 13. Acetylates DDX21, thereby inhibiting DDX21 helicase activity 14. Acetylates FBL, preventing methylation of 'Gln-105' of histone H2A (H2AQ104me) 15. Functions as a transcriptional coactivator for SMAD4 in the TGF-beta signaling pathway 16....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator, 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 is ubiquitously expressed and is involved in the transcriptional coactivation of many different transcription factors. First isolated as a nuclear protein that binds to cAMP-response element binding protein (CREB), this gene is now known to play critical roles in embryonic development, growth control, and homeostasis by coupling chromatin remodeling to transcription factor recognition. The protein encoded by this gene has intrinsic histone acetyltransferase activity and also acts as a scaffold to stabilize additional protein interactions with the transcription complex. This protein acetylates both histone and non-histone proteins. This protein shares regions of very high sequence similarity with protein p300 in its bromodomain, cysteine-histidine-rich regions, and histone acetyltransferase domain. Mutations in this gene cause Rubinstein-Taybi syndrome (RTS). Chromosomal translocations involving this gene have been associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2009]...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.
Enzymes ENZYME proteins Transferases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Mutated cancer 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:0000785[chromatin] GO:0001223[transcription coactivator binding] GO:0001666[response to hypoxia] GO:0002039[p53 binding] GO:0002223[stimulatory C-type lectin receptor signaling pathway] GO:0003682[chromatin binding] GO:0003684[damaged DNA binding] GO:0003712[transcription coregulator activity] GO:0003713[transcription coactivator activity] GO:0003714[transcription corepressor activity] GO:0004402[histone acetyltransferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0006473[protein acetylation] GO:0007165[signal transduction] GO:0008270[zinc ion binding] GO:0008589[regulation of smoothened signaling pathway] GO:0016407[acetyltransferase activity] GO:0016479[negative regulation of transcription by RNA polymerase I] GO:0016573[histone acetylation] GO:0016604[nuclear body] GO:0016740[transferase activity] GO:0016746[acyltransferase activity] GO:0018076[N-terminal peptidyl-lysine acetylation] GO:0030511[positive regulation of transforming growth factor beta receptor signaling pathway] GO:0031490[chromatin DNA binding] GO:0031648[protein destabilization] GO:0034212[peptide N-acetyltransferase activity] GO:0034644[cellular response to UV] GO:0042592[homeostatic process] GO:0042733[embryonic digit morphogenesis] GO:0043229[intracellular organelle] GO:0043426[MRF binding] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0048511[rhythmic process] GO:0050896[response to stimulus] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0061733[peptide-lysine-N-acetyltransferase activity] GO:0065003[protein-containing complex assembly] GO:0140297[DNA-binding transcription factor binding] GO:1900034[regulation of cellular response to heat]
Enzymes ENZYME proteins Transferases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Mutated cancer 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:0000785[chromatin] GO:0001223[transcription coactivator binding] GO:0001666[response to hypoxia] GO:0002039[p53 binding] GO:0002223[stimulatory C-type lectin receptor signaling pathway] GO:0003682[chromatin binding] GO:0003684[damaged DNA binding] GO:0003712[transcription coregulator activity] GO:0003713[transcription coactivator activity] GO:0003714[transcription corepressor activity] GO:0004402[histone acetyltransferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0006473[protein acetylation] GO:0007165[signal transduction] GO:0008270[zinc ion binding] GO:0008589[regulation of smoothened signaling pathway] GO:0016407[acetyltransferase activity] GO:0016479[negative regulation of transcription by RNA polymerase I] GO:0016573[histone acetylation] GO:0016604[nuclear body] GO:0016740[transferase activity] GO:0016746[acyltransferase activity] GO:0018076[N-terminal peptidyl-lysine acetylation] GO:0030511[positive regulation of transforming growth factor beta receptor signaling pathway] GO:0031490[chromatin DNA binding] GO:0031648[protein destabilization] GO:0034212[peptide N-acetyltransferase activity] GO:0034644[cellular response to UV] GO:0042592[homeostatic process] GO:0042733[embryonic digit morphogenesis] GO:0043229[intracellular organelle] GO:0043426[MRF binding] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0048511[rhythmic process] GO:0050896[response to stimulus] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0061733[peptide-lysine-N-acetyltransferase activity] GO:0065003[protein-containing complex assembly] GO:0140297[DNA-binding transcription factor binding] GO:1900034[regulation of cellular response to heat]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer 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)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer 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)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer 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 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)
Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer 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)