EP300


Also found in: Wikipedia.

EP300

A gene on chromosome 22q13.2 that encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein, which acts as a histone acetyltransferase, regulating transcription via chromatin remodelling; it is important in cell proliferation and differentiation. EP300 is a co-activator of HIF1A (hypoxia-inducible factor-1 alpha), and thus plays a role in the stimulation of hypoxia-induced genes (e.g., VEGF).
 
Molecular pathology
EP300 mutations are the cause of Rubinstein-Taybi syndrome and may play a role in epithelial malignancies.
Mentioned in ?
References in periodicals archive ?
The event also witnessed the launch of three new Bridgestone tyres to Qatar's market; Turanza T005 (designed for maximised comfort, quiet cruising, and an enhanced safety level), Alenza (designed for SUVs only, for excellent steering performance), and Ecopia EP300 (designed for passenger cars, for better wear life, safety, comfort, and most importantly for being eco-friendly).
Recent high-throughput cancer genome sequencing revealed several gene mutations (ADAM29, MLL2, ASH1L, SETD1B, MLL3, EP300, CREBBP, and FAM135B) in ESCC (4).
Linger et al., "Mutations truncating the EP300 acetylase in human cancers," Nature Genetics, vol.
Considering the lack of salvage therapies available in this scenario, a FoundationOne[R]Heme genomic profiling assay was requested, which revealed 5 nondrugable genomic alterations: ATM Q2593* mutation, ARID1A S2149fs*47 mutation, CDKN2A/B loss, EP300 L415P mutation (subclonal), and MLL3 Y306* mutation.
RSTS can be caused by heterozygous mutations in CREBBP gene or less commonly the EP300 gene, which are involved in several basic cellular activities including growth and differentiation.
Moreover, they also found a significant enrichment of eGFR-associated CpGs in regions that bind the transcription factors (TFs), like EBF1, EP300, and CEBPB [24].
The miR-106b~25 cluster promotes bypass of doxorubicin-induced senescence and increase in motility and invasion by targeting the E-cadherin transcriptional activator EP300. Cell Death Differ 2014;21:462-74.
Next generation gene sequencing demonstrated no relevant leukemia mutations in CSFR1, SF3B1, SRSF2, U2AF1, NRAS, KRAS, FLT3, JAK2, JAK3, DNMT3A, KIT, PHF6, PDGFRA, CDKN2A, IDH1, IDH2, TET2, EZH2, CEBPA, EP300, PTPN11, P53, CREBBP, IKZF1, IKZF3, NOTCH1, RUNX1, WT1, and NPM1.
Enot et al., "Spermidine induces autophagy by inhibiting the acetyltransferase EP300," Cell Death and Differentiation, vol.
The human E1A binding protein, p300, also known as EP300 or p300, is encoded by the EP300 gene and regulates the activity of many genes in tissues throughout the body [52].
For example, TP53 mutations were more frequent in White patients, while the mutation frequencies of its upstream genes EP300 and CDKN2A were higher in Asian patients.
Although expression quantitative trait loci (eQTL) evidence is absent, but there are numerous binding sites besides rs3027392 for several DNA binding proteins and transcription factors such as E1A binding protein p300 (EP300) and RE1-silencing transcription factor (formerly called Neuron Restrictive Silencer Factor [NRSF]), a transcriptional repressor that represses neuronal genes in non-neuronal tissues.26 EP300 functions as a histone acetyl transferase and transcription co-activator that regulates chromatin remodelling and mutations in this gene are reported to cause Rubinstein- Taybi syndrome, a disorder with many behavioural phenotypes.27,28