EP300 (NM_001429) - E1A binding protein p300

Histone Acetyltransferase P300

Mutations Visualisation

Protein summary

This is preferred isoform of EP300 protein.
EP300: histone acetyltransferase p300
Description:

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].

Publication Note:
This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.

Evidence data:
Transcript exon combination :: U01877.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348]

Strand
+
Chromosome
22
Protein
2414 residues
All mutations
363
PTM sites
120
CDS
41,489,008 - 41,574,960
Transcription
41,488,613 - 41,576,081
78.13% of sequence is predicted to be disordered

External references

Mappings retrieved from NCBI & Uniprot.
RefSeq
Entrez
gene: 2033
Uniprot
Ensembl