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Aliases for EP300 Gene

Aliases for EP300 Gene

  • E1A Binding Protein P300 2 3
  • Histone Acetyltransferase P300 2 3
  • E1A-Associated Protein P300 3 4
  • EC 2.3.1.48 4 63
  • P300 HAT 3 4
  • RSTS2 3 6
  • P300 3 4
  • E1A-Binding Protein, 300kD 3
  • EC 2.3.1 63
  • KAT3B 3

External Ids for EP300 Gene

Summaries for EP300 Gene

Entrez Gene Summary for EP300 Gene

  • 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]

GeneCards Summary for EP300 Gene

EP300 (E1A Binding Protein P300) is a Protein Coding gene. Diseases associated with EP300 include rubinstein-taybi syndrome 2 and ep300-related rubinstein-taybi syndrome. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include chromatin binding and transcription coactivator activity. An important paralog of this gene is BRD4.

UniProtKB/Swiss-Prot for EP300 Gene

  • Functions as histone acetyltransferase and regulates transcription via chromatin remodeling. Acetylates all four core histones in nucleosomes. Histone acetylation gives an epigenetic tag for transcriptional activation. Mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. 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. Mediates acetylation of histone H3 at Lys-27 (H3K27ac). Also functions as acetyltransferase for nonhistone targets. Acetylates Lys-131 of ALX1 and acts as its coactivator in the presence of CREBBP. Acetylates SIRT2 and is proposed to indirectly increase the transcriptional activity of TP53 through acetylation and subsequent attenuation of SIRT2 deacetylase function. Acetylates HDAC1 leading to its inactivation and modulation of transcription. Acts as a TFAP2A-mediated transcriptional coactivator in presence of CITED2. 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. Can also mediate transcriptional repression. Binds to and may be involved in the transforming capacity of the adenovirus E1A protein. In case of HIV-1 infection, it is recruited by the viral protein Tat. Regulates Tats transactivating activity and may help inducing chromatin remodeling of proviral genes. Acetylates FOXO1 and enhances its transcriptional activity. Acetylates BCL6 wich disrupts its ability to recruit histone deacetylases and hinders its transcriptional repressor activity. 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. Acetylates MTA1 at Lys-626 which is essential for its transcriptional coactivator activity (PubMed:10733570, PubMed:11430825, PubMed:11701890, PubMed:12402037, PubMed:12586840, PubMed:12929931, PubMed:14645221, PubMed:15186775, PubMed:15890677, PubMed:16617102, PubMed:16762839, PubMed:18722353, PubMed:18995842, PubMed:23415232, PubMed:23911289, PubMed:23934153, PubMed:8945521). Acetylates XBP1 isoform 2; acetylation increases protein stability of XBP1 isoform 2 and enhances its transcriptional activity (PubMed:20955178). Acetylates PCNA; acetylation promotes removal of chromatin-bound PCNA and its degradation during nucleotide excision repair (NER) (PubMed:24939902).

Gene Wiki entry for EP300 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EP300 Gene

Genomics for EP300 Gene

Genomic Location for EP300 Gene

Start:
41,091,786 bp from pter
End:
41,180,083 bp from pter
Size:
88,298 bases
Orientation:
Plus strand

Genomic View for EP300 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EP300 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EP300 Gene

Regulatory Elements for EP300 Gene

Proteins for EP300 Gene

  • Protein details for EP300 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q09472-EP300_HUMAN
    Recommended name:
    Histone acetyltransferase p300
    Protein Accession:
    Q09472
    Secondary Accessions:
    • B1AKC2

    Protein attributes for EP300 Gene

    Size:
    2414 amino acids
    Molecular mass:
    264161 Da
    Quaternary structure:
    • Interacts with phosphorylated CREB1. Interacts with HIF1A; the interaction is stimulated in response to hypoxia and inhibited by CITED2. Interacts (via N-terminus) with TFAP2A (via N-terminus); the interaction requires CITED2. Interacts (via CH1 domain) with CITED2 (via C-terminus). Interacts with CITED1 (unphosphorylated form preferentially and via C-terminus). Interacts with ESR1; the interaction is estrogen-dependent and enhanced by CITED1. Interacts with DTX1, EID1, ELF3, FEN1, LEF1, NCOA1, NCOA6, NR3C1, PCAF, PELP1, PRDM6, SP1, SP3, SPIB, SRY, TCF7L2, TP53, DDX5, DDX17, SATB1, SRCAP, TTC5, JMY and TRERF1. The TAZ-type 1 domain interacts with HIF1A. Probably part of a complex with HIF1A and CREBBP. Part of a complex containing CARM1 and NCOA2/GRIP1. Interacts with ING4 and this interaction may be indirect. Interacts with ING5. Interacts with the C-terminal region of CITED4. Non-sumoylated EP300 preferentially interacts with SENP3. Interacts with SS18L1/CREST. Interacts with ALX1 (via homeobox domain). Interacts with NEUROD1; the interaction is inhibited by NR0B2. Interacts with TCF3. Interacts (via CREB-binding domain) with MYOCD (via C-terminus). Binds to HIPK2. Interacts with ROCK2 and PPARG. Forms a complex made of CDK9, CCNT1/cyclin-T1, EP300 and GATA4 that stimulates hypertrophy in cardiomyocytes. Interacts with IRF1 and this interaction enhances acetylation of p53/TP53 and stimulation of its activity. Interacts with FOXO1; the interaction acetylates FOXO1 and enhances its transcriptional activity. Interacts with ALKBH4 and DDIT3/CHOP. Interacts with KLF15. Interacts with CEBPB and RORA. Interacts with HTLV-1 Tax and p30II. Interacts with and acetylates HIV-1 Tat. Interacts with NPAS2, ARNTL/BMAL1 and CLOCK. Interacts with SIRT2 isoform 1, isoform 2 and isoform 5. Interacts with MTA1. Interacts with HDAC4 and HDAC5 in the presence of TFAP2C (PubMed:10545121, PubMed:10722728, PubMed:10823961, PubMed:11073989, PubMed:11073990, PubMed:11080476, PubMed:11349124, PubMed:11430825, PubMed:11463834, PubMed:11481323, PubMed:11518699, PubMed:11559821, PubMed:11564735, PubMed:11581164, PubMed:11581372, PubMed:11701890, PubMed:11744733, PubMed:11864910, PubMed:11959990, PubMed:11997499, PubMed:12446687, PubMed:12527917, PubMed:12586840, PubMed:12750254, PubMed:12778114, PubMed:12837748, PubMed:12929931, PubMed:14605447, PubMed:14645221, PubMed:14716005, PubMed:14752053, PubMed:15075319, PubMed:15186775, PubMed:15297880, PubMed:15509808, PubMed:15731352, PubMed:15890677, PubMed:16478997, PubMed:16574662, PubMed:16617102, PubMed:16864582, PubMed:17226766, PubMed:17872950, PubMed:18273021, PubMed:19217391, PubMed:19680224, PubMed:20081228, PubMed:23145062, PubMed:23999430, PubMed:24177535, PubMed:24413532, PubMed:8684459, PubMed:8917528, PubMed:9528808, PubMed:9590696, PubMed:9862959, PubMed:9887100). Interacts with TRIP4 (PubMed:25219498). Directly interacts with ZBTB49; this interaction leads to synergistic transactivation of CDKN1A (PubMed:25245946).

    Three dimensional structures from OCA and Proteopedia for EP300 Gene

neXtProt entry for EP300 Gene

Proteomics data for EP300 Gene at MOPED

Selected DME Specific Peptides for EP300 Gene

Post-translational modifications for EP300 Gene

  • Acetylated on Lys at up to 17 positions by intermolecular autocatalysis. Deacetylated in the transcriptional repression domain (CRD1) by SIRT1, preferentially at Lys-1020. Deacetylated by SIRT2, preferentially at Lys-418, Lys-423, Lys-1542, Lys-1546, Lys-1549, Lys-1699, Lys-1704 and Lys-1707.
  • Citrullinated at Arg-2142 by PADI4, which impairs methylation by CARM1 and promotes interaction with NCOA2/GRIP1.
  • Methylated at Arg-580 and Arg-604 in the KIX domain by CARM1, which blocks association with CREB, inhibits CREB signaling and activates apoptotic response. Also methylated at Arg-2142 by CARM1, which impairs interaction with NCOA2/GRIP1.
  • Phosphorylated by HIPK2 in a RUNX1-dependent manner. This phosphorylation that activates EP300 happens when RUNX1 is associated with DNA and CBFB. Phosphorylated by ROCK2 and this enhances its activity. Phosphorylation at Ser-89 by AMPK reduces interaction with nuclear receptors, such as PPARG.
  • Probable target of ubiquitination by FBXO3, leading to rapid proteasome-dependent degradation
  • Sumoylated; sumoylation in the transcriptional repression domain (CRD1) mediates transcriptional repression. Desumoylated by SENP3 through the removal of SUMO2 and SUMO3.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys1637

Other Protein References for EP300 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for EP300 Gene

Gene Families for EP300 Gene

HGNC:
  • KAT :Chromatin-modifying enzymes / K-acetyltransferases

Suggested Antigen Peptide Sequences for EP300 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q09472

UniProtKB/Swiss-Prot:

EP300_HUMAN
Domain:
  • The CRD1 domain (cell cycle regulatory domain 1) mediates transcriptional repression of a subset of p300 responsive genes; it can be de-repressed by CDKN1A/p21WAF1 at least at some promoters. It conatins sumoylation and acetylation sites and the same lysine residues may be targeted for the respective modifications. It is proposed that deacetylation by SIRT1 allows sumoylation leading to suppressed activity:
    • Q09472
  • Contains 1 bromo domain.:
    • Q09472
  • Contains 1 CBP/p300-type HAT (histone acetyltransferase) domain.:
    • Q09472
  • Contains 1 KIX domain.:
    • Q09472
Similarity:
  • Contains 2 TAZ-type zinc fingers.:
    • Q09472
  • Contains 1 ZZ-type zinc finger.:
    • Q09472
genes like me logo Genes that share domains with EP300: view

Function for EP300 Gene

Molecular function for EP300 Gene

GENATLAS Biochemistry: cellular protein p300,component with CREBBP of a coactivator complex connecting the basal transcriptional machinery to various DNA binding factors,i.e. binding the promoter of FTH1 and contributing to its tissue specific expression,target of adenoviral E1A oncoprotein,structurally and putatively preventing the G0/G1 transition in cell cycle,also acting as an histone acetyltransferase for the four core histones in nucleosome,involved in acute myeloid leukemia with translocation t(11;22)(q23;q13)
UniProtKB/Swiss-Prot CatalyticActivity: Acetyl-CoA + [histone] = CoA + acetyl-[histone].
UniProtKB/Swiss-Prot Function: Functions as histone acetyltransferase and regulates transcription via chromatin remodeling. Acetylates all four core histones in nucleosomes. Histone acetylation gives an epigenetic tag for transcriptional activation. Mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. 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. Mediates acetylation of histone H3 at Lys-27 (H3K27ac). Also functions as acetyltransferase for nonhistone targets. Acetylates Lys-131 of ALX1 and acts as its coactivator in the presence of CREBBP. Acetylates SIRT2 and is proposed to indirectly increase the transcriptional activity of TP53 through acetylation and subsequent attenuation of SIRT2 deacetylase function. Acetylates HDAC1 leading to its inactivation and modulation of transcription. Acts as a TFAP2A-mediated transcriptional coactivator in presence of CITED2. 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. Can also mediate transcriptional repression. Binds to and may be involved in the transforming capacity of the adenovirus E1A protein. In case of HIV-1 infection, it is recruited by the viral protein Tat. Regulates Tats transactivating activity and may help inducing chromatin remodeling of proviral genes. Acetylates FOXO1 and enhances its transcriptional activity. Acetylates BCL6 wich disrupts its ability to recruit histone deacetylases and hinders its transcriptional repressor activity. 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. Acetylates MTA1 at Lys-626 which is essential for its transcriptional coactivator activity (PubMed:10733570, PubMed:11430825, PubMed:11701890, PubMed:12402037, PubMed:12586840, PubMed:12929931, PubMed:14645221, PubMed:15186775, PubMed:15890677, PubMed:16617102, PubMed:16762839, PubMed:18722353, PubMed:18995842, PubMed:23415232, PubMed:23911289, PubMed:23934153, PubMed:8945521). Acetylates XBP1 isoform 2; acetylation increases protein stability of XBP1 isoform 2 and enhances its transcriptional activity (PubMed:20955178). Acetylates PCNA; acetylation promotes removal of chromatin-bound PCNA and its degradation during nucleotide excision repair (NER) (PubMed:24939902).

Enzyme Numbers (IUBMB) for EP300 Gene

Gene Ontology (GO) - Molecular Function for EP300 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IEA --
GO:0001047 core promoter binding IDA 17641689
GO:0001085 RNA polymerase II transcription factor binding --
GO:0001102 RNA polymerase II activating transcription factor binding IPI 20018936
GO:0002039 p53 binding IEA --
genes like me logo Genes that share ontologies with EP300: view
genes like me logo Genes that share phenotypes with EP300: view

Animal Models for EP300 Gene

MGI Knock Outs for EP300:

Transcription Factor Targeting for EP300 Gene

Selected GeneGlobe predicted Target genes for EP300

No data available for HOMER Transcription for EP300 Gene

Localization for EP300 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EP300 Gene

Cytoplasm. Nucleus. Note=In the presence of ALX1 relocalizes from the cytoplasm to the nucleus. Colocalizes with ROCK2 in the nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EP300 Gene COMPARTMENTS Subcellular localization image for EP300 gene
Compartment Confidence
nucleus 5
cytoskeleton 4
cytosol 4

Gene Ontology (GO) - Cellular Components for EP300 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000123 histone acetyltransferase complex IEA --
GO:0005634 nucleus IDA 12929931
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IEA --
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with EP300: view

Pathways for EP300 Gene

genes like me logo Genes that share pathways with EP300: view

Gene Ontology (GO) - Biological Process for EP300 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 10733570
GO:0000278 mitotic cell cycle TAS --
GO:0001666 response to hypoxia IDA 15261140
GO:0001756 somitogenesis IEA --
genes like me logo Genes that share ontologies with EP300: view

Compounds for EP300 Gene

(3) HMDB Compounds for EP300 Gene

Compound Synonyms Cas Number PubMed IDs
Acetyl-CoA
  • S-Acetyl coenzyme A
72-89-9
Coenzyme A
  • Acetoacetyl coenzyme A sodium salt
85-61-0
Cyclic AMP
  • Cyclic AMP
60-92-4

(59) Novoseek inferred chemical compound relationships for EP300 Gene

Compound -log(P) Hits PubMed IDs
helenalin 62.3 1
lysine 57.4 34
polypropylene glycol 50.9 5
retinoic acid 48.5 35
curcumin 45.8 15
genes like me logo Genes that share compounds with EP300: view

Transcripts for EP300 Gene

mRNA/cDNA for EP300 Gene

(2) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(283) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for EP300 Gene

E1A binding protein p300:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EP300 Gene

No ASD Table

Relevant External Links for EP300 Gene

GeneLoc Exon Structure for
EP300
ECgene alternative splicing isoforms for
EP300

Expression for EP300 Gene

mRNA expression in normal human tissues for EP300 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for EP300 Gene

SOURCE GeneReport for Unigene cluster for EP300 Gene Hs.517517

genes like me logo Genes that share expressions with EP300: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for EP300 Gene

Orthologs for EP300 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EP300 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EP300 35
  • 99.41 (n)
  • 99.59 (a)
EP300 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EP300 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EP300 35
  • 92.16 (n)
  • 95.65 (a)
EP300 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ep300 35
  • 89.26 (n)
  • 93.35 (a)
Ep300 16
Ep300 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EP300 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 69 (a)
OneToMany
-- 36
  • 69 (a)
OneToMany
-- 36
  • 68 (a)
OneToMany
-- 36
  • 86 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ep300 35
  • 89.02 (n)
  • 93.3 (a)
chicken
(Gallus gallus)
Aves EP300 35
  • 80.48 (n)
  • 85.44 (a)
EP300 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EP300 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ep300 35
  • 73.41 (n)
  • 81.22 (a)
Str.10812 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9245 35
zebrafish
(Danio rerio)
Actinopterygii ep300a 35
  • 72.9 (n)
  • 81.57 (a)
ep300a 36
  • 56 (a)
OneToMany
ep300b 36
  • 57 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta nej 36
  • 32 (a)
OneToMany
nej 37
  • 59 (a)
worm
(Caenorhabditis elegans)
Secernentea bet-1 36
  • 23 (a)
ManyToMany
bet-2 36
  • 17 (a)
ManyToMany
C29F9.6 36
  • 36 (a)
ManyToMany
cbp-1 36
  • 38 (a)
ManyToMany
F13C5.2 36
  • 26 (a)
ManyToMany
F40F12.7 36
  • 43 (a)
ManyToMany
K03H1.10 36
  • 43 (a)
ManyToMany
F40F12.7 37
  • 62 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BDF1 36
  • 22 (a)
ManyToMany
BDF2 36
  • 22 (a)
ManyToMany
rice
(Oryza sativa)
Liliopsida Os.15122 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 71 (a)
ManyToMany
-- 36
  • 54 (a)
ManyToMany
Species with no ortholog for EP300:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EP300 Gene

ENSEMBL:
Gene Tree for EP300 (if available)
TreeFam:
Gene Tree for EP300 (if available)

Paralogs for EP300 Gene

Paralogs for EP300 Gene

Selected SIMAP similar genes for EP300 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with EP300: view

Variants for EP300 Gene

Sequence variations from dbSNP and Humsavar for EP300 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs20551 Benign, - 41,152,004(+) AGGAT(A/G)TTTCA reference, missense
rs20552 Benign 41,155,035(+) CCAAC(A/T)TTGGA synonymous-codon, reference
rs20553 Benign 41,127,522(+) CCAGG(C/T)CTGGT reference, synonymous-codon
rs20554 Benign 41,157,255(+) TGGCA(A/G)TATGT synonymous-codon, reference
rs79540 -- 41,170,864(+) TTCAC(C/T)GTGTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EP300 Gene

Variant ID Type Subtype PubMed ID
nsv524585 CNV Loss 19592680
nsv3636 CNV Insertion 18451855
nsv915116 CNV Loss 21882294

Relevant External Links for EP300 Gene

HapMap Linkage Disequilibrium report
EP300
Human Gene Mutation Database (HGMD)
EP300
Locus Specific Mutation Databases (LSDB)
EP300

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EP300 Gene

Disorders for EP300 Gene

(2) OMIM Diseases for EP300 Gene (602700)

UniProtKB/Swiss-Prot

EP300_HUMAN
  • Note=Defects in EP300 may play a role in epithelial cancer.
  • Note=Chromosomal aberrations involving EP300 may be a cause of acute myeloid leukemias. Translocation t(8;22)(p11;q13) with KAT6A.
  • Rubinstein-Taybi syndrome 2 (RSTS2) [MIM:613684]: A disorder characterized by craniofacial abnormalities, postnatal growth deficiency, broad thumbs, broad big toes, mental retardation and a propensity for development of malignancies. Some individuals with RSTS2 have less severe mental impairment, more severe microcephaly, and a greater degree of changes in facial bone structure than RSTS1 patients. {ECO:0000269 PubMed:15706485}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for EP300 Gene

(57) Novoseek inferred disease relationships for EP300 Gene

Disease -log(P) Hits PubMed IDs
rubinstein-taybi syndrome 81.3 12
leukemia t-cell 60.5 5
retinoblastoma 53.4 18
leukemogenesis 51.4 8
promyelocytic leukemia 44 2

Relevant External Links for EP300

GeneTests
EP300
GeneReviews
EP300
Genetic Association Database (GAD)
EP300
Human Genome Epidemiology (HuGE) Navigator
EP300
genes like me logo Genes that share disorders with EP300: view

Publications for EP300 Gene

  1. Molecular cloning and functional analysis of the adenovirus E1A- associated 300-kD protein (p300) reveals a protein with properties of a transcriptional adaptor. (PMID: 7523245) Eckner R. … Livingston D.M. (Genes Dev. 1994) 2 3 4 23
  2. Differential transcriptional activation by human T-cell leukemia virus type 1 Tax mutants is mediated by distinct interactions with CREB binding protein and p300. (PMID: 9528808) Bex F. … Gaynor R.B. (Mol. Cell. Biol. 1998) 3 4 23
  3. Mutations truncating the EP300 acetylase in human cancers. (PMID: 10700188) Gayther S.A. … Caldas C. (Nat. Genet. 2000) 3 4 23
  4. A novel transcriptional repression domain mediates p21(WAF1/CIP1) induction of p300 transactivation. (PMID: 10733570) Snowden A.W. … Perkins N.D. (Mol. Cell. Biol. 2000) 3 4 23
  5. MOZ is fused to p300 in an acute monocytic leukemia with t(8;22). (PMID: 10824998) Chaffanet M. … Pebusque M.-J. (Genes Chromosomes Cancer 2000) 3 4 23

Products for EP300 Gene

  • Addgene plasmids for EP300

Sources for EP300 Gene

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