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EP300 (E1A binding protein p300)

Identity

Other namesP300
E1A binding protein p300
HGNC (Hugo) EP300
LocusID (NCBI) 2033
Location 22q13.2
Location_base_pair Starts at 41488614 and ends at 41576081 bp from pter ( according to hg19-Feb_2009)  [Mapping]

DNA/RNA

Transcription 9046 bp mRNA; coding sequence: 7244 bp

Protein

Description 2414 amino acids; 264 kDa
Expression widely expressed ; also expressed in the whole embryo; possesses from N term to C term: a nuclear localization signal, a poly-serine, a bromodomain, a poly-glu, a binding region for E1A adenovirus, and a poly-gln.
Localisation nucleus
Function p300 and CBP are highly related proteins implicated in transcriptional responses to various extracellular and intracellular signals with chromatin remodeling; they are non-DNA-binding transcriptional coactivators; they interact with transcriptional activators as well as repressors; p300 and CBP are involved in most cellular programs, including growth, terminal differentiation , and P53-mediated apoptosis (with MDM2 interaction) processes; p300 and CBP appear to have distinct functions during differentiation; there is embryonic lethality of mice nullizygous for p300 (with defects in neurulation and heart development), and as well of mice double heterozygous for p300 and CBP, underlining their essential and associated role
Homology CBP

Implicated in

Entity t(11;22)(q23;q13)
Note very rare
Disease therapy related acute non lymphocytic leukemia
Hybrid/Mutated Gene 5 MLL-3 P300
Abnormal Protein N-term MLL fused to C-term P300
Oncogenesis likely to be driven by the MLL part
  
Entity gastric and colorectal carcinomas
Oncogenesis mutations in both alleles
  

Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias 11q23ChildAMLID1615 11q23ID1030 11q23secondLeukID1131 t1119ELLID1029 t0812q24q22ID2057
t0814ID1050 8p11inMPDID1091

External links

Nomenclature
HGNC (Hugo)EP300   3373
Cards
AtlasP300ID97
Entrez_Gene (NCBI)EP300  2033  E1A binding protein p300
GeneCards (Weizmann)EP300
Ensembl (Hinxton)ENSG00000100393 [Gene_View]  chr22:41488614-41576081 [Contig_View]  EP300 [Vega]
ICGC DataPortalENSG00000100393
AceView (NCBI)EP300
Genatlas (Paris)EP300
WikiGenes2033
SOURCE (Princeton)NM_001429
Genomic and cartography
GoldenPath (UCSC)EP300  -  22q13.2   chr22:41488614-41576081 +  22q13.2   [Description]    (hg19-Feb_2009)
EnsemblEP300 - 22q13.2 [CytoView]
Mapping of homologs : NCBIEP300 [Mapview]
OMIM180849   602700   613684   
Gene and transcription
Genbank (Entrez)AA235167 AB385004 AI302618 BC053889 BC172280
RefSeq transcript (Entrez)NM_001429
RefSeq genomic (Entrez)AC_000154 NC_000022 NC_018933 NG_009817 NT_011520 NW_001838745 NW_004929430
Consensus coding sequences : CCDS (NCBI)EP300
Cluster EST : UnigeneHs.655211 [ NCBI ]
CGAP (NCI)Hs.655211
Alternative Splicing : Fast-db (Paris)GSHG0020057
Alternative Splicing GalleryENSG00000100393
Gene ExpressionEP300 [ NCBI-GEO ]     EP300 [ SEEK ]   EP300 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ09472 (Uniprot)
NextProtQ09472  [Medical]
With graphics : InterProQ09472
Splice isoforms : SwissVarQ09472 (Swissvar)
Catalytic activity : Enzyme2.3.1.48 [ Enzyme-Expasy ]   2.3.1.482.3.1.48 [ IntEnz-EBI ]   2.3.1.48 [ BRENDA ]   2.3.1.48 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)BROMODOMAIN_1 (PS00633)    BROMODOMAIN_2 (PS50014)    KIX (PS50952)    ZF_TAZ (PS50134)    ZF_ZZ_1 (PS01357)    ZF_ZZ_2 (PS50135)   
Domains : Interpro (EBI)Bromodomain    Bromodomain_CS    DUF902_CREBbp    Histone_H3-K56_AcTrfase_RTT109    KIX_dom    Nuc_rcpt_coact    Nuc_rcpt_coact_CREBbp    Znf_TAZ    Znf_ZZ   
Related proteins : CluSTrQ09472
Domain families : Pfam (Sanger)Bromodomain (PF00439)    Creb_binding (PF09030)    DUF902 (PF06001)    KAT11 (PF08214)    KIX (PF02172)    zf-TAZ (PF02135)    ZZ (PF00569)   
Domain families : Pfam (NCBI)pfam00439    pfam09030    pfam06001    pfam08214    pfam02172    pfam02135    pfam00569   
Domain families : Smart (EMBL)BROMO (SM00297)  ZnF_TAZ (SM00551)  ZnF_ZZ (SM00291)  
DMDM Disease mutations2033
Blocks (Seattle)Q09472
PDB (SRS)1L3E    1P4Q    2K8F    3BIY    3I3J    3IO2    3P57    3T92    4BHW   
PDB (PDBSum)1L3E    1P4Q    2K8F    3BIY    3I3J    3IO2    3P57    3T92    4BHW   
PDB (IMB)1L3E    1P4Q    2K8F    3BIY    3I3J    3IO2    3P57    3T92    4BHW   
PDB (RSDB)1L3E    1P4Q    2K8F    3BIY    3I3J    3IO2    3P57    3T92    4BHW   
Human Protein AtlasENSG00000100393
Peptide AtlasQ09472
HPRD04078
IPIIPI00020985   IPI00909883   
Protein Interaction databases
DIP (DOE-UCLA)Q09472
IntAct (EBI)Q09472
FunCoupENSG00000100393
BioGRIDEP300
IntegromeDBEP300
STRING (EMBL)EP300
Ontologies - Pathways
QuickGOQ09472
Ontology : AmiGOG2/M transition of mitotic cell cycle  negative regulation of transcription from RNA polymerase II promoter  histone acetyltransferase complex  mitotic cell cycle  chromatin  RNA polymerase II core promoter proximal region sequence-specific DNA binding  core promoter binding  RNA polymerase II activating transcription factor binding  response to hypoxia  somitogenesis  liver development  positive regulation of protein phosphorylation  p53 binding  DNA binding  chromatin binding  transcription coactivator activity  transcription coactivator activity  antigen binding  histone acetyltransferase activity  lysine N-acetyltransferase activity  protein binding  nucleus  nucleoplasm  transcription factor complex  nucleolus  cytoplasm  chromatin organization  transcription, DNA-templated  regulation of transcription, DNA-templated  internal protein amino acid acetylation  apoptotic process  Notch signaling pathway  nervous system development  heart development  skeletal muscle tissue development  circadian rhythm  beta-catenin binding  transcription factor binding  zinc ion binding  response to glucose  organ morphogenesis  positive regulation of glycoprotein biosynthetic process  positive regulation of cell death  viral process  acetyltransferase activity  acetyltransferase activity  transferase activity, transferring acyl groups  N-terminal peptidyl-lysine acetylation  internal peptidyl-lysine acetylation  lung development  chromatin DNA binding  response to cobalt ion  positive regulation of protein binding  protein complex binding  positive regulation of type I interferon production  response to retinoic acid  positive regulation of collagen biosynthetic process  protein-DNA complex  positive regulation of protein import into nucleus, translocation  activating transcription factor binding  response to tumor necrosis factor  nuclear hormone receptor binding  glucocorticoid receptor binding  response to drug  intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator  peroxisome proliferator activated receptor binding  positive regulation of DNA binding  bHLH transcription factor binding  protein kinase B signaling  response to estrogen  positive regulation by host of viral transcription  histone H4 acetylation  histone H2B acetylation  innate immune response  response to ethanol  positive regulation of translation  positive regulation of axon extension  positive regulation of cell size  positive regulation of proteolysis  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  SMAD binding  digestive tract development  androgen receptor binding  positive regulation of protein secretion  mitogen-activated protein kinase binding  NF-kappaB binding  positive regulation of sequence-specific DNA binding transcription factor activity  response to glucocorticoid  response to calcium ion  regulation of cell cycle  regulation of angiotensin metabolic process  positive regulation of sarcomere organization  regulation of androgen receptor signaling pathway  regulation of transcription from RNA polymerase II promoter in response to hypoxia  protein-DNA complex assembly  cellular response to hydrogen peroxide  response to fatty acid  cellular response to organic cyclic compound  cellular response to hypoxia  regulation of tubulin deacetylation  
Ontology : EGO-EBIG2/M transition of mitotic cell cycle  negative regulation of transcription from RNA polymerase II promoter  histone acetyltransferase complex  mitotic cell cycle  chromatin  RNA polymerase II core promoter proximal region sequence-specific DNA binding  core promoter binding  RNA polymerase II activating transcription factor binding  response to hypoxia  somitogenesis  liver development  positive regulation of protein phosphorylation  p53 binding  DNA binding  chromatin binding  transcription coactivator activity  transcription coactivator activity  antigen binding  histone acetyltransferase activity  lysine N-acetyltransferase activity  protein binding  nucleus  nucleoplasm  transcription factor complex  nucleolus  cytoplasm  chromatin organization  transcription, DNA-templated  regulation of transcription, DNA-templated  internal protein amino acid acetylation  apoptotic process  Notch signaling pathway  nervous system development  heart development  skeletal muscle tissue development  circadian rhythm  beta-catenin binding  transcription factor binding  zinc ion binding  response to glucose  organ morphogenesis  positive regulation of glycoprotein biosynthetic process  positive regulation of cell death  viral process  acetyltransferase activity  acetyltransferase activity  transferase activity, transferring acyl groups  N-terminal peptidyl-lysine acetylation  internal peptidyl-lysine acetylation  lung development  chromatin DNA binding  response to cobalt ion  positive regulation of protein binding  protein complex binding  positive regulation of type I interferon production  response to retinoic acid  positive regulation of collagen biosynthetic process  protein-DNA complex  positive regulation of protein import into nucleus, translocation  activating transcription factor binding  response to tumor necrosis factor  nuclear hormone receptor binding  glucocorticoid receptor binding  response to drug  intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator  peroxisome proliferator activated receptor binding  positive regulation of DNA binding  bHLH transcription factor binding  protein kinase B signaling  response to estrogen  positive regulation by host of viral transcription  histone H4 acetylation  histone H2B acetylation  innate immune response  response to ethanol  positive regulation of translation  positive regulation of axon extension  positive regulation of cell size  positive regulation of proteolysis  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  SMAD binding  digestive tract development  androgen receptor binding  positive regulation of protein secretion  mitogen-activated protein kinase binding  NF-kappaB binding  positive regulation of sequence-specific DNA binding transcription factor activity  response to glucocorticoid  response to calcium ion  regulation of cell cycle  regulation of angiotensin metabolic process  positive regulation of sarcomere organization  regulation of androgen receptor signaling pathway  regulation of transcription from RNA polymerase II promoter in response to hypoxia  protein-DNA complex assembly  cellular response to hydrogen peroxide  response to fatty acid  cellular response to organic cyclic compound  cellular response to hypoxia  regulation of tubulin deacetylation  
Pathways : BIOCARTATranscription Regulation by Methyltransferase of CARM1 [Genes]    IL-7 Signal Transduction [Genes]    Role of MEF2D in T-cell Apoptosis [Genes]    Hypoxia and p53 in the Cardiovascular system [Genes]    Acetylation and Deacetylation of RelA in The Nucleus [Genes]    CARM1 and Regulation of the Estrogen Receptor [Genes]    Melanocyte Development and Pigmentation [Genes]    Pelp1 Modulation of Estrogen Receptor Activity [Genes]    Role of PPAR-gamma Coactivators in Obesity and Thermogenesis [Genes]    Cell Cycle: G2/M Checkpoint [Genes]    Role of ERBB2 in Signal Transduction and Oncology [Genes]    NFkB activation by Nontypeable Hemophilus influenzae [Genes]    Mechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha) [Genes]    Hypoxia-Inducible Factor in the Cardiovascular System [Genes]    TGF beta signaling pathway [Genes]    Multi-step Regulation of Transcription by Pitx2 [Genes]    Control of Gene Expression by Vitamin D Receptor [Genes]   
Pathways : KEGGHIF-1 signaling pathway    FoxO signaling pathway    Cell cycle    Wnt signaling pathway    Notch signaling pathway    TGF-beta signaling pathway    Adherens junction    Jak-STAT signaling pathway    Long-term potentiation    Melanogenesis    Thyroid hormone signaling pathway    Huntington's disease    Tuberculosis    Hepatitis B    Influenza A    HTLV-I infection    Herpes simplex infection    Epstein-Barr virus infection    Pathways in cancer    Viral carcinogenesis    MicroRNAs in cancer    Renal cell carcinoma    Prostate cancer   
REACTOMEQ09472 [protein]
REACTOME PathwaysREACT_115566 Cell Cycle [pathway]
REACTOME PathwaysREACT_120956 Cellular responses to stress [pathway]
REACTOME PathwaysREACT_172623 Chromatin organization [pathway]
REACTOME PathwaysREACT_24941 Circadian Clock [pathway]
REACTOME PathwaysREACT_111045 Developmental Biology [pathway]
REACTOME PathwaysREACT_116125 Disease [pathway]
REACTOME PathwaysREACT_6900 Immune System [pathway]
REACTOME PathwaysREACT_111102 Signal Transduction [pathway]
Protein Interaction DatabaseEP300
Wikipedia pathwaysEP300
Gene fusion - rearrangments
Rearrangement : TICdbKMT2A [11q23.3]  -  EP300 [10p12.31]
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)EP300
SNP (GeneSNP Utah)EP300
SNP : HGBaseEP300
Genetic variants : HAPMAPEP300
1000_GenomesEP300 
ICGC programENSG00000100393 
Cancer Gene: CensusEP300 
CONAN: Copy Number AnalysisEP300 
Somatic Mutations in Cancer : COSMICEP300 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
DECIPHER (Syndromes)22:41488614-41576081
Mutations and Diseases : HGMDEP300
OMIM180849    602700    613684   
MedgenEP300
GENETestsEP300
Disease Genetic AssociationEP300
Huge Navigator EP300 [HugePedia]  EP300 [HugeCancerGEM]
Genomic VariantsEP300  EP300 [DGVbeta]
Exome VariantEP300
dbVarEP300
ClinVarEP300
snp3D : Map Gene to Disease2033
General knowledge
Homologs : HomoloGeneEP300
Homology/Alignments : Family Browser (UCSC)EP300
Phylogenetic Trees/Animal Genes : TreeFamEP300
Chemical/Protein Interactions : CTD2033
Chemical/Pharm GKB GenePA27807
Drug Sensitivity EP300
Clinical trialEP300
Cancer Resource (Charite)ENSG00000100393
Other databases
Other databaseGenes and Disease
Other databasehttp://cancergenome.broadinstitute.org/index.php?tgene=EP300
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
CoreMineEP300
GoPubMedEP300
iHOPEP300

Bibliography

Molecular cloning and functional analysis of the adenovirus E1A-associated 300-kD protein (p300) reveals a protein with properties of a transcriptional adaptor.
Eckner R, Ewen ME, Newsome D, Gerdes M, DeCaprio JA, Lawrence JB, Livingston DM
Genes Dev. 1994 ; 15 : 869-884.
PMID 95011587
 
p300 and CBP as transcriptional regulators and targets of oncogenic events.
Eckner R
Biological chemistry. 1996 ; 377 (11) : 685-688.
PMID 8960368
 
Adenoviral E1A-associated protein p300 is involved in acute myeloid leukemia with t(11;22)(q23;q13).
Ida K, Kitabayashi I, Taki T, Taniwaki M, Noro K, Yamamoto M, Ohki M, Hayashi Y
Blood. 1997 ; 90 (12) : 4699-4704.
PMID 9389684
 
Gene dosage-dependent embryonic development and proliferation defects in mice lacking the transcriptional integrator p300.
Yao TP, Oh SP, Fuchs M, Zhou ND, Ch'ng LE, Newsome D, Bronson RT, Li E, Livingston DM, Eckner R
Cell. 1998 ; 93 (3) : 361-372.
PMID 9590171
 
Conjunction dysfunction: CBP/p300 in human disease.
Giles RH, Peters DJ, Breuning MH
Trends in genetics : TIG. 1998 ; 14 (5) : 178-183.
PMID 9613201
 
p300/MDM2 complexes participate in MDM2-mediated p53 degradation.
Grossman SR, Perez M, Kung AL, Joseph M, Mansur C, Xiao ZX, Kumar S, Howley PM, Livingston DM
Molecular cell. 1998 ; 2 (4) : 405-415.
PMID 9809062
 
Cell cycle regulation of the transcriptional coactivators p300 and CREB binding protein.
Snowden AW, Perkins ND
Biochemical pharmacology. 1998 ; 55 (12) : 1947-1954.
PMID 9714314
 
The coactivators p300 and CBP have different functions during the differentiation of F9 cells.
Ugai H, Uchida K, Kawasaki H, Yokoyama KK
Journal of molecular medicine (Berlin, Germany). 1999 ; 77 (6) : 481-494.
PMID 10475063
 
p300 and CBP: partners for life and death.
Giordano A, Avantaggiati ML
Journal of cellular physiology. 1999 ; 181 (2) : 218-230.
PMID 10497301
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written01-2000Jean-Loup Huret

Citation

This paper should be referenced as such :
Huret, JL
EP300 (E1A binding protein p300)
Atlas Genet Cytogenet Oncol Haematol. 2000;4(1):1-2.
Free online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/P300ID97.html

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indexed on : Sat Nov 8 17:03:02 CET 2014

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