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Aliases for EP300 Gene

Aliases for EP300 Gene

  • E1A Binding Protein P300 2 3 5
  • Histone Acetyltransferase P300 2 3
  • E1A-Associated Protein P300 3 4
  • EC 2.3.1.48 4 61
  • P300 HAT 3 4
  • P300 3 4
  • E1A-Binding Protein, 300kD 3
  • EC 2.3.1 61
  • KAT3B 3
  • RSTS2 3

External Ids for EP300 Gene

Previous GeneCards Identifiers for EP300 Gene

  • GC22P038102
  • GC22P039730
  • GC22P039812
  • GC22P041487
  • GC22P024453

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 Colorectal Cancer. Among its related pathways are CCR5 Pathway in Macrophages and PEDF Induced Signaling. GO annotations related to this gene include chromatin binding and transcription coactivator activity. An important paralog of this gene is CREBBP.

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. 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). Acetylates MEF2D.

Tocris Summary for EP300 Gene

  • Bromodomains (BRDs) are epigenetic reader domains that selectively recognize acetylated lysine residues on the tails of histone proteins, and are the only known protein modules that can target acetylated lysine residues.

Gene Wiki entry for EP300 Gene

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

Genomics for EP300 Gene

Regulatory Elements for EP300 Gene

Enhancers for EP300 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22G041559 1.6 Ensembl ENCODE dbSUPER 41.5 +471.3 471297 6.9 HDGF PKNOX1 ZFP64 ARID4B ZNF302 ZNF143 FOS ZNF263 SP3 ZNF662 EP300 XRCC6 PHF5A MEI1 POLR3H DNAJB7 CSDC2 TOB2 DESI1 SNU13
GH22G042077 1.2 ENCODE 54.3 +987.5 987476 3.9 HDGF PKNOX1 CREB3L1 AGO1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 SMDT1 EP300 CYP2D6 RPL5P34 PHF5A XRCC6 RN7SKP80 LOC100506679 TOB2 RRP7BP
GH22G041666 1.4 Ensembl ENCODE 38.6 +575.7 575658 2.5 HDGF PKNOX1 FOXA2 AGO1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 RN7SKP80 EP300 PHF5A RRP7BP MEI1 EP300-AS1 XRCC6 LOC100313968 ENSG00000232754 SNU13
GH22G040241 1.6 FANTOM5 Ensembl dbSUPER 33.5 -850.9 -850910 0.3 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 FOS EP300 ADSL EP300-AS1 ENSG00000232754 SNORD83B ENSG00000272834 LOC100313968 RPL3 TNRC6B GRAP2
GH22G041815 1.1 ENCODE dbSUPER 41.5 +725.8 725778 3.9 ZNF493 ZFP64 ZNF121 GATA2 ZNF138 ZNF354C ZNF654 ZNF680 ZNF426 OVOL3 EP300 RPL5P34 PHF5A RN7SKP80 MEI1 XRCC6 DNAJB7 TOB2 RRP7BP SNU13
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EP300 on UCSC Golden Path with GeneCards custom track

Promoters for EP300 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000146593 1214 4401 HDGF FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1

Genomic Location for EP300 Gene

Chromosome:
22
Start:
41,091,786 bp from pter
End:
41,180,079 bp from pter
Size:
88,294 bases
Orientation:
Plus strand

Genomic View for EP300 Gene

Genes around EP300 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EP300 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EP300 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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). Interacts with NR4A3 (By similarity). Interacts with ZNF451 (PubMed:24324267). Interacts with human adenovirus 5 E1A protein; this interaction stimulates the acetylation of RB1 by recruiting EP300 and RB1 into a multimeric-protein complex (PubMed:11433299). Interacts with ATF5; EP300 is required for ATF5 and CEBPB interaction and DNA binding (By similarity). Interacts with HSF1 (PubMed:27189267). Interacts with ZBTB48/TZAP (PubMed:24382891).

    Three dimensional structures from OCA and Proteopedia for EP300 Gene

neXtProt entry for EP300 Gene

Selected DME Specific Peptides for EP300 Gene

Q09472:
  • PNQRRVY
  • PTPHHTP
  • VYHEILIGYL
  • LIGYLEY

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.
  • Ubiquitination at Lys1637
  • Modification sites at PhosphoSitePlus

Other Protein References for EP300 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for EP300 (p300)
  • Cloud-Clone Corp. Antibodies for EP300

Assay Products

  • Cloud-Clone Corp Assay Kits for EP300

Domains & Families for EP300 Gene

Gene Families for EP300 Gene

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 :
  • 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.
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.
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. 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). Acetylates MEF2D.

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 IEA --
GO:0001102 RNA polymerase II activating transcription factor binding IPI 20018936
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding IEA --
genes like me logo Genes that share ontologies with EP300: view
genes like me logo Genes that share phenotypes with EP300: view

Human Phenotype Ontology for EP300 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EP300 Gene

MGI Knock Outs for EP300:

Animal Model Products

CRISPR Products

Transcription Factor Targets for EP300 Gene

Selected GeneGlobe predicted Target genes for EP300

Inhibitory RNA Products

Clone Products

  • Addgene plasmids 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EP300 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

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 9194565
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with EP300: view

Pathways & Interactions for EP300 Gene

SuperPathways for EP300 Gene

SuperPathway Contained pathways
1 Signaling by NOTCH1
2 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
3 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
4 Notch signaling pathway (KEGG)
5 Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
genes like me logo Genes that share pathways with EP300: view

SIGNOR curated interactions for EP300 Gene

Gene Ontology (GO) - Biological Process for EP300 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 10733570
GO:0001666 response to hypoxia IDA 9887100
GO:0001756 somitogenesis IEA --
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
genes like me logo Genes that share ontologies with EP300: view

Drugs & Compounds for EP300 Gene

(52) Drugs for EP300 Gene - From: ClinicalTrials, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cyclic amp Experimental Pharma 0
Garcinol Pharma PCAF/p300 inhibitor; anticancer 0
Curcumin Pharma Tyrosinase inhibitor, Antitumor, anti-inflammatory and antioxidant 146
Histone Deacetylase Inhibitors Pharma 569
Mocetinostat Pharma 20

(21) Additional Compounds for EP300 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A
72-89-9

(4) ApexBio Compounds for EP300 Gene

Compound Action Cas Number
Garcinol 78824-30-3
I-CBP 112 CBP/EP300 bromodomain inhibitor
L002 321695-57-2
SGC-CBP30 Inhibitor of CREBBP/EP300 bromodomain,potent 1613695-14-9
genes like me logo Genes that share compounds with EP300: view

Drug Products

Transcripts for EP300 Gene

Unigene Clusters for EP300 Gene

E1A binding protein p300:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for EP300

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for EP300 Gene

Protein differential expression in normal tissues from HIPED for EP300 Gene

This gene is overexpressed in Bone marrow stromal cell (30.6) and Placenta (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EP300 Gene



Protein tissue co-expression partners for EP300 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EP300 Gene:

EP300

SOURCE GeneReport for Unigene cluster for EP300 Gene:

Hs.517517

Evidence on tissue expression from TISSUES for EP300 Gene

  • Liver(4.5)
  • Nervous system(4.3)
  • Blood(3)
  • Skin(3)
  • Muscle(2.8)
  • Kidney(2.7)
  • Heart(2.6)
  • Intestine(2.6)
  • Lung(2.4)
  • Thyroid gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EP300 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • reproductive
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • chin
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • nose
  • skull
  • tooth
Abdomen:
  • intestine
  • kidney
  • large intestine
  • stomach
Pelvis:
  • anus
  • rectum
  • ureter
  • urethra
  • urinary bladder
  • uterus
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with EP300: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 34 35
  • 99.41 (n)
cow
(Bos Taurus)
Mammalia EP300 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EP300 34 35
  • 92.16 (n)
mouse
(Mus musculus)
Mammalia Ep300 34 16 35
  • 89.26 (n)
rat
(Rattus norvegicus)
Mammalia Ep300 34
  • 89.02 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 86 (a)
OneToMany
-- 35
  • 69 (a)
OneToMany
-- 35
  • 69 (a)
OneToMany
-- 35
  • 68 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia EP300 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves EP300 34 35
  • 80.48 (n)
lizard
(Anolis carolinensis)
Reptilia EP300 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ep300 34
  • 73.41 (n)
Str.10812 34
zebrafish
(Danio rerio)
Actinopterygii ep300a 34 35
  • 72.9 (n)
ep300b 35
  • 57 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9245 34
fruit fly
(Drosophila melanogaster)
Insecta nej 36 35
  • 59 (a)
worm
(Caenorhabditis elegans)
Secernentea F40F12.7 36 35
  • 62 (a)
K03H1.10 35
  • 43 (a)
ManyToMany
cbp-1 35
  • 38 (a)
ManyToMany
C29F9.6 35
  • 36 (a)
ManyToMany
F13C5.2 35
  • 26 (a)
ManyToMany
bet-1 35
  • 23 (a)
ManyToMany
bet-2 35
  • 17 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BDF1 35
  • 22 (a)
ManyToMany
BDF2 35
  • 22 (a)
ManyToMany
rice
(Oryza sativa)
Liliopsida Os.15122 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 71 (a)
ManyToMany
-- 35
  • 54 (a)
ManyToMany
Species where no ortholog for EP300 was found in the sources mined by GeneCards:
  • 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

(6) 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
rs28937578 Pathogenic, A colorectal cancer sample 41,178,373(+) CCCAC(A/C/T)ACAGC reference, missense
VAR_014428 A breast cancer sample
VAR_014429 A breast cancer sample
VAR_014430 A pancreatic cancer sample
rs1057517732 Pathogenic 41,176,250(+) AGGTC(G/T)TCTTT reference, missense

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

Variant ID Type Subtype PubMed ID
dgv4575n100 CNV gain 25217958
esv2763263 CNV loss 21179565
esv3400955 CNV insertion 20981092
esv3568415 CNV loss 25503493
esv3647790 CNV loss 21293372
nsv1057708 CNV gain 25217958
nsv1058653 CNV gain 25217958
nsv1123595 CNV deletion 24896259
nsv1136681 CNV deletion 24896259
nsv1160764 CNV deletion 26073780
nsv3636 CNV insertion 18451855
nsv524585 CNV loss 19592680
nsv589048 CNV loss 21841781
nsv589049 CNV gain 21841781

Variation tolerance for EP300 Gene

Residual Variation Intolerance Score: 0.241% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.51; 77.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EP300 Gene

Human Gene Mutation Database (HGMD)
EP300
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EP300

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

Disorders for EP300 Gene

MalaCards: The human disease database

(36) MalaCards diseases for EP300 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
rubinstein-taybi syndrome 2
  • rubinstein-taybi syndrome due to ep300 haploinsufficiency
colorectal cancer
  • colorectal cancer, somatic
ep300-related rubinstein-taybi syndrome
  • ep300-related broad thumbs-hallux syndrome
rubinstein-taybi syndrome
  • rubinstein-taybi syndrome 1
locked-in syndrome
  • locked in syndrome
- elite association - COSMIC cancer census association via MalaCards
Search EP300 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EP300_HUMAN
  • Note=Chromosomal aberrations involving EP300 may be a cause of acute myeloid leukemias. Translocation t(8;22)(p11;q13) with KAT6A.
  • Note=Defects in EP300 may play a role in epithelial cancer.
  • 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.

Relevant External Links for EP300

Genetic Association Database (GAD)
EP300
Human Genome Epidemiology (HuGE) Navigator
EP300
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EP300
genes like me logo Genes that share disorders with EP300: view

No data available for Genatlas for EP300 Gene

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 22 64
  2. Screening and association testing of common coding variation in steroid hormone receptor co-activator and co-repressor genes in relation to breast cancer risk: the Multiethnic Cohort. (PMID: 19183483) Haiman C.A. … Press M.F. (BMC Cancer 2009) 3 22 46 64
  3. Acetylation of Sirt2 by p300 attenuates its deacetylase activity. (PMID: 18722353) Han Y. … Lee K.Y. (Biochem. Biophys. Res. Commun. 2008) 3 4 22 64
  4. The SIRT2 deacetylase regulates autoacetylation of p300. (PMID: 18995842) Black J.C. … Carey M. (Mol. Cell 2008) 3 4 22 64
  5. Regulation of coactivator complex assembly and function by protein arginine methylation and demethylimination. (PMID: 15731352) Lee Y.-H. … Stallcup M.R. (Proc. Natl. Acad. Sci. U.S.A. 2005) 3 4 22 64

Products for EP300 Gene

  • Addgene plasmids for EP300

Sources for EP300 Gene

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