Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2033
Gene name Gene Name - the full gene name approved by the HGNC.
EP300 lysine acetyltransferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EP300
Synonyms (NCBI Gene) Gene synonyms aliases
KAT3B, MKHK2, RSTS2, p300
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q13.2
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs28937578 C>A,T Pathogenic Coding sequence variant, missense variant
rs137853038 C>T Pathogenic Coding sequence variant, stop gained
rs137853039 C>T Pathogenic Coding sequence variant, stop gained
rs139310551 C>A,T Pathogenic Coding sequence variant, synonymous variant, stop gained
rs147583157 A>G Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT003604 hsa-miR-26b-5p Microarray 19569050
MIRT003603 hsa-miR-194-5p Microarray 19569050
MIRT004566 hsa-miR-374a-5p Microarray 19569050
MIRT003601 hsa-miR-182-5p Microarray 19569050
MIRT003600 hsa-miR-429 Microarray 19569050
Transcription factors
Transcription factor Regulation Reference
AR Activation 22334658
BRCA1 Activation 11782371
BRCA1 Unknown 11405179
CREBBP Unknown 15154850
EGR1 Activation 18798221;20414733
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000045 Process Autophagosome assembly IDA 28890335
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 10733570
GO:0000123 Component Histone acetyltransferase complex IBA
GO:0000123 Component Histone acetyltransferase complex IEA
GO:0000785 Component Chromatin IDA 21084751
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602700 3373 ENSG00000100393
Protein
UniProt ID Q09472
Protein name Histone acetyltransferase p300 (p300 HAT) (EC 2.3.1.48) (E1A-associated protein p300) (Histone butyryltransferase p300) (EC 2.3.1.-) (Histone crotonyltransferase p300) (EC 2.3.1.-) (Protein 2-hydroxyisobutyryltransferase p300) (EC 2.3.1.-) (Protein lactyl
Protein function Functions as a histone acetyltransferase and regulates transcription via chromatin remodeling (PubMed:23415232, PubMed:23934153, PubMed:8945521). Acetylates all four core histones in nucleosomes (PubMed:23415232, PubMed:23934153, PubMed:8945521)
PDB 1L3E , 1P4Q , 2K8F , 2MH0 , 2MZD , 3BIY , 3I3J , 3IO2 , 3P57 , 3T92 , 4BHW , 4PZR , 4PZS , 4PZT , 5BT3 , 5KJ2 , 5LKT , 5LKU , 5LKX , 5LKZ , 5LPK , 5LPM , 5NU5 , 5XZC , 6DS6 , 6FGN , 6FGS , 6GYR , 6GYT , 6K4N , 6PF1 , 6PGU , 6V8B , 6V8K , 6V8N , 6V90 , 7LJE , 7QGS , 7SS8 , 7SSK , 7SZQ , 7UGI , 7VHY , 7VHZ , 7VI0 , 7W9V , 7XEZ , 7XFG , 8E1D , 8FVF , 8GZC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02135 zf-TAZ 338 414 TAZ zinc finger Family
PF02172 KIX 566 646 KIX domain Domain
PF00439 Bromodomain 1058 1144 Bromodomain Domain
PF06001 DUF902 1156 1195 Domain of Unknown Function (DUF902) Domain
PF08214 HAT_KAT11 1306 1612 Histone acetylation protein Domain
PF00569 ZZ 1664 1705 Zinc finger, ZZ type Domain
PF02135 zf-TAZ 1735 1806 TAZ zinc finger Family
PF09030 Creb_binding 1990 2098 Creb binding Domain
Sequence
MAENVVEPGPPSAKRPKLSSPALSASASDGTDFGSLFDLEHDLPDELINSTELGLTNGGD
INQLQTSLGMVQDAASKHKQLSELLRSGSSPNLNMGVGGPGQVMASQAQQSSPGLGLINS
MVKSPMTQAGLTSPNMGMGTSGPNQGPTQSTGMMNSPVNQPAMGMNTGMNAGMNPGMLAA
GNGQGIMPNQVMNGSIGAGRGRQNMQYPNPGMGSAGNLLTEPLQQGSPQMGGQTGLRGPQ
PLKMGMMNNPNPYGSPYTQNPGQQIGASGLGLQIQTKTVLSNNLSPFAMDKKAVPGGGMP
NMGQQPAPQVQQPGLVTPVAQGMGSGAHTADPEKRKLIQQQLVLLLHAHKCQRREQANGE
VRQCNLPHCRTMKNVLNHMTHCQSGKSCQVAHCASSRQIISHWKNCTRHDCPVC
LPLKNA
GDKRNQQPILTGAPVGLGNPSSLGVGQQSAPNLSTVSQIDPSSIERAYAALGLPYQVNQM
PTQPQVQAKNQQNQQPGQSPQGMRPMSNMSASPMGVNGGVGVQTPSLLSDSMLHSAINSQ
NPMMSENASVPSLGPMPTAAQPSTTGIRKQWHEDITQDLRNHLVHKLVQAIFPTPDPAAL
KDRRMENLVAYARKVEGDMYESANNRAEYYHLLAEKIYKIQKELEE
KRRTRLQKQNMLPN
AAGMVPVSMNPGPNMGQPQPGMTSNGPLPDPSMIRGSVPNQMMPRITPQSGLNQFGQMSM
AQPPIVPRQTPPLQHHGQLAQPGALNPPMGYGPRMQQPSNQGQFLPQTQFPSQGMNVTNI
PLAPSSGQAPVSQAQMSSSSCPVNSPIMPPGSQGSHIHCPQLPQPALHQNSPSPVPSRTP
TPHHTPPSIGAQQPPATTIPAPVPTPPAMPPGPQSQALHPPPRQTPTPPTTQLPQQVQPS
LPAAPSADQPQQQPRSQQSTAASVPTPTAPLLPPQPATPLSQPAVSIEGQVSNPPSTSST
EVNSQAIAEKQPSQEVKMEAKMEVDQPEPADTQPEDISESKVEDCKMESTETEERSTELK
TEIKEEEDQPSTSATQSSPAPGQSKKKIFKPEELRQALMPTLEALYRQDPESLPFRQPVD
PQLLGIPDYFDIVKSPMDLSTIKRKLDTGQYQEPWQYVDDIWLMFNNAWLYNRKTSRVYK
YCSK
LSEVFEQEIDPVMQSLGYCCGRKLEFSPQTLCCYGKQLCTIPRDATYYSYQNRYHF
CEKCFNEIQGESVSLGDDPSQPQTTINKEQFSKRKNDTLDPELFVECTECGRKMHQICVL
HHEIIWPAGFVCDGCLKKSARTRKENKFSAKRLPSTRLGTFLENRVNDFLRRQNHPESGE
VTVRVVHASDKTVEVKPGMKARFVDSGEMAESFPYRTKALFAFEEIDGVDLCFFGMHVQE
YGSDCPPPNQRRVYISYLDSVHFFRPKCLRTAVYHEILIGYLEYVKKLGYTTGHIWACPP
SEGDDYIFHCHPPDQKIPKPKRLQEWYKKMLDKAVSERIVHDYKDIFKQATEDRLTSAKE
LPYFEGDFWPNVLEESIKELEQEEEERKREENTSNESTDVTKGDSKNAKKKNNKKTSKNK
SSLSRGNKKKPGMPNVSNDLSQKLYATMEKHKEVFFVIRLIAGPAANSLPPI
VDPDPLIP
CDLMDGRDAFLTLARDKHLEFSSLRRAQWSTMCMLVELHTQSQDRFVYTCNECKHHVETR
WHCTVCEDYDLCITCYNTKNHDHKM
EKLGLGLDDESNNQQAAATQSPGDSRRLSIQRCIQ
SLVHACQCRNANCSLPSCQKMKRVVQHTKGCKRKTNGGCPICKQLIALCCYHAKHCQENK
CPVPFC
LNIKQKLRQQQLQHRLQQAQMLRRRMASMQRTGVVGQQQGLPSPTPATPTTPTG
QQPTTPQTPQPTSQPQPTPPNSMPPYLPRTQAAGPVSQGKAAGQVTPPTPPQTAQPPLPG
PPPAAVEMAMQIQRAAETQRQMAHVQIFQRPIQHQMPPMTPMAPMGMNPPPMTRGPSGHL
EPGMGPTGMQQQPPWSQGGLPQPQQLQSGMPRPAMMSVAQHGQPLNMAPQPGLGQVGISP
LKPGTVSQQALQNLLRTLRSPSSPLQQQQVLSILHANPQLLAAFIKQRAAKYANSNPQ
PI
PGQPGMPQGQPGLQPPTMPGQQGVHSNPAMQNMNPMQAGVQRAGLPQQQPQQQLQPPMGG
MSPQAQQMNMNHNTMPSQFRDILRRQQMMQQQQQQGAGPGIGPGMANHNQFQQPQGVGYP
PQQQQRMQHHMQQMQQGNMGQIGQLPQALGAEAGASLQAYQQRLLQQQMGSPVQPNPMSP
QQHMLPNQAQSPHLQGQQIPNSLSNQVRSPQPVPSPRPQSQPPHSSPSPRMQPQPSPHHV
SPQTSSPHPGLVAAQANPMEQGHFASPDQNSMLSQLASNPGMANLHGASATDLGLSTDNS
DLNSNLSQSTLDIH
Sequence length 2414
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Polycomb repressive complex
Viral life cycle - HIV-1
cAMP signaling pathway
HIF-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
Glucagon signaling pathway
Growth hormone synthesis, secretion and action
Huntington disease
Tuberculosis
Hepatitis B
Influenza A
Human papillomavirus infection
Human T-cell leukemia virus 1 infection
Kaposi sarcoma-associated herpesvirus infection
Pathways in cancer
Viral carcinogenesis
MicroRNAs in cancer
Renal cell carcinoma
Prostate cancer
  Regulation of gene expression by Hypoxia-inducible Factor
RORA activates gene expression
Polo-like kinase mediated events
Pre-NOTCH Transcription and Translation
PPARA activates gene expression
Formation of the beta-catenin:TCF transactivating complex
NOTCH1 Intracellular Domain Regulates Transcription
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production
HATs acetylate histones
Attenuation phase
Transcriptional regulation of white adipocyte differentiation
SUMOylation of transcription cofactors
Circadian Clock
B-WICH complex positively regulates rRNA expression
CD209 (DC-SIGN) signaling
Metalloprotease DUBs
Formation of TC-NER Pre-Incision Complex
Transcription-Coupled Nucleotide Excision Repair (TC-NER)
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest
Regulation of TP53 Activity through Acetylation
Regulation of TP53 Activity through Methylation
PI5P Regulates TP53 Acetylation
Activation of the TFAP2 (AP-2) family of transcription factors
RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
RUNX3 regulates NOTCH signaling
Regulation of RUNX3 expression and activity
RUNX3 regulates p14-ARF
NOTCH3 Intracellular Domain Regulates Transcription
NOTCH4 Intracellular Domain Regulates Transcription
Estrogen-dependent gene expression
NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
NGF-stimulated transcription
TRAF3-dependent IRF activation pathway
TRAF6 mediated IRF7 activation
Transcriptional regulation of granulopoiesis
Regulation of FOXO transcriptional activity by acetylation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental retardation intellectual disability rs1555910821 N/A
Rubinstein-Taybi Syndrome rubinstein-taybi syndrome due to ep300 haploinsufficiency, rubinstein-taybi syndrome due to crebbp mutations rs1601642812, rs137853039, rs1601633708, rs1601598354, rs879253873, rs2058829252, rs1555910602, rs1569108381, rs1601641819, rs1601610306, rs886041830, rs1440862488, rs1555911316, rs1569122847, rs1601639958
View all (38 more)
N/A
Microcephaly microcephaly rs2058919680 N/A
Multiple Congenital Anomalies multiple congenital anomalies rs1057517732 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Developmental And Epileptic Encephalopathy Developmental and epileptic encephalopathy, 18 N/A N/A ClinVar
Diabetes Type 2 diabetes N/A N/A GWAS
Diffuse Lymphoma Diffuse large B-cell lymphoma DLBCL cells with genetic alterations in EP300 and CREBBP are sensitive to a HAT domain inhibitor. 33911074 CBGDA
Insomnia Insomnia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 33846793, 38256128
Adrenal Insufficiency Stimulate 37162176
Alopecia Associate 40421630
Alzheimer Disease Inhibit 27480489
Alzheimer Disease Associate 33083483, 38002954
Androgen Insensitivity Syndrome Associate 22334658
Anemia Aplastic Stimulate 35274786
Anemia Hemolytic Associate 35731275
Anorectal Malformations Associate 36474027
Aortic Aneurysm Abdominal Associate 26767057