• Gene id: 1387

Gene Summary

• Gene Symbol: CREBBP   Gene   UCSC   Ensembl
• Aliases: CBP, KAT3A, MKHK1, RSTS, RSTS1
• Gene name: CREB binding protein
• Alternate names: CREB-binding protein, histone lysine acetyltransferase CREBBP, protein-lysine acetyltransferase CREBBP,
• Gene location: 16p13.3 (48593740: 48591256)     Exons: 2     NC_000017.11
• Gene summary(Entrez): This gene is ubiquitously expressed and is involved in the transcriptional coactivation of many different transcription factors. First isolated as a nuclear protein that binds to cAMP-response element binding protein (CREB), this gene is now known to play
• OMIM: 600140

Protein Summary

• Protein general information: Q92793  
  • Name: CREB binding protein (Histone lysine acetyltransferase CREBBP) (EC 2.3.1.48) (Protein lysine acetyltransferase CREBBP) (EC 2.3.1. )
  • Length: 2442  
  • Mass: 265351
• Sequence:

  MAENLLDGPPNPKRAKLSSPGFSANDSTDFGSLFDLENDLPDELIPNGGELGLLNSGNLVPDAASKHKQLSELLR
  GGSGSSINPGIGNVSASSPVQQGLGGQAQGQPNSANMASLSAMGKSPLSQGDSSAPSLPKQAASTSGPTPAASQA
  LNPQAQKQVGLATSSPATSQTGPGICMNANFNQTHPGLLNSNSGHSLINQASQGQAQVMNGSLGAAGRGRGAGMP
  YPTPAMQGASSSVLAETLTQVSPQMTGHAGLNTAQAGGMAKMGITGNTSPFGQPFSQAGGQPMGATGVNPQLASK
  QSMVNSLPTFPTDIKNTSVTNVPNMSQMQTSVGIVPTQAIATGPTADPEKRKLIQQQLVLLLHAHKCQRREQANG
  EVRACSLPHCRTMKNVLNHMTHCQAGKACQVAHCASSRQIISHWKNCTRHDCPVCLPLKNASDKRNQQTILGSPA
  SGIQNTIGSVGTGQQNATSLSNPNPIDPSSMQRAYAALGLPYMNQPQTQLQPQVPGQQPAQPQTHQQMRTLNPLG
  NNPMNIPAGGITTDQQPPNLISESALPTSLGATNPLMNDGSNSGNIGTLSTIPTAAPPSSTGVRKGWHEHVTQDL
  RSHLVHKLVQAIFPTPDPAALKDRRMENLVAYAKKVEGDMYESANSRDEYYHLLAEKIYKIQKELEEKRRSRLHK
  QGILGNQPALPAPGAQPPVIPQAQPVRPPNGPLSLPVNRMQVSQGMNSFNPMSLGNVQLPQAPMGPRAASPMNHS
  VQMNSMGSVPGMAISPSRMPQPPNMMGAHTNNMMAQAPAQSQFLPQNQFPSSSGAMSVGMGQPPAQTGVSQGQVP
  GAALPNPLNMLGPQASQLPCPPVTQSPLHPTPPPASTAAGMPSLQHTTPPGMTPPQPAAPTQPSTPVSSSGQTPT
  PTPGSVPSATQTQSTPTVQAAAQAQVTPQPQTPVQPPSVATPQSSQQQPTPVHAQPPGTPLSQAAASIDNRVPTP
  SSVASAETNSQQPGPDVPVLEMKTETQAEDTEPDPGESKGEPRSEMMEEDLQGASQVKEETDIAEQKSEPMEVDE
  KKPEVKVEVKEEEESSSNGTASQSTSPSQPRKKIFKPEELRQALMPTLEALYRQDPESLPFRQPVDPQLLGIPDY
  FDIVKNPMDLSTIKRKLDTGQYQEPWQYVDDVWLMFNNAWLYNRKTSRVYKFCSKLAEVFEQEIDPVMQSLGYCC
  GRKYEFSPQTLCCYGKQLCTIPRDAAYYSYQNRYHFCEKCFTEIQGENVTLGDDPSQPQTTISKDQFEKKKNDTL
  DPEPFVDCKECGRKMHQICVLHYDIIWPSGFVCDNCLKKTGRPRKENKFSAKRLQTTRLGNHLEDRVNKFLRRQN
  HPEAGEVFVRVVASSDKTVEVKPGMKSRFVDSGEMSESFPYRTKALFAFEEIDGVDVCFFGMHVQEYGSDCPPPN
  TRRVYISYLDSIHFFRPRCLRTAVYHEILIGYLEYVKKLGYVTGHIWACPPSEGDDYIFHCHPPDQKIPKPKRLQ
  EWYKKMLDKAFAERIIHDYKDIFKQATEDRLTSAKELPYFEGDFWPNVLEESIKELEQEEEERKKEESTAASETT
  EGSQGDSKNAKKKNNKKTNKNKSSISRANKKKPSMPNVSNDLSQKLYATMEKHKEVFFVIHLHAGPVINTLPPIV
  DPDPLLSCDLMDGRDAFLTLARDKHWEFSSLRRSKWSTLCMLVELHTQGQDRFVYTCNECKHHVETRWHCTVCED
  YDLCINCYNTKSHAHKMVKWGLGLDDEGSSQGEPQSKSPQESRRLSIQRCIQSLVHACQCRNANCSLPSCQKMKR
  VVQHTKGCKRKTNGGCPVCKQLIALCCYHAKHCQENKCPVPFCLNIKHKLRQQQIQHRLQQAQLMRRRMATMNTR
  NVPQQSLPSPTSAPPGTPTQQPSTPQTPQPPAQPQPSPVSMSPAGFPSVARTQPPTTVSTGKPTSQVPAPPPPAQ
  PPPAAVEAARQIEREAQQQQHLYRVNINNSMPPGRTGMGTPGSQMAPVSLNVPRPNQVSGPVMPSMPPGQWQQAP
  LPQQQPMPGLPRPVISMQAQAAVAGPRMPSVQPPRSISPSALQDLLRTLKSPSSPQQQQQVLNILKSNPQLMAAF
  IKQRTAKYVANQPGMQPQPGLQSQPGMQPQPGMHQQPSLQNLNAMQAGVPRPGVPPQQQAMGGLNPQGQALNIMN
  PGHNPNMASMNPQYREMLRRQLLQQQQQQQQQQQQQQQQQQGSAGMAGGMAGHGQFQQPQGPGGYPPAMQQQQRM
  QQHLPLQGSSMGQMAAQMGQLGQMGQPGLGADSTPNIQQALQQRILQQQQMKQQIGSPGQPNPMSPQQHMLSGQP
  QASHLPGQQIATSLSNQVRSPAPVQSPRPQSQPPHSSPSPRIQPQPSPHHVSPQTGSPHPGLAVTMASSIDQGHL
  GNPEQSAMLPQLNTPSRSALSSELSLVGDTTGDTLEKFVEGL

• Structural information:
  • Protein Domains: (587..66-)
    (/note="KIX-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00311-)
    (1103..117-)
    (/note="Bromo-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00035-)
    (1323..170-)
    (/note="CBP/p300-type-HAT)
    (/evidence="ECO:0000255|PROSITE-ProRule:-)
  • Interpro: IPR001487  IPR036427  IPR018359  IPR031162  IPR013178   IPR003101  IPR036529  IPR009110  IPR014744  IPR037073  IPR010303  IPR038547  IPR035898  IPR013083  IPR000197  IPR000433  
  • Prosite: PS00633 PS50014 PS51727 PS50952 PS50134 PS01357 PS50135
  • CDD: cd15802
  • PDB: 1JSP 1LIQ 1RDT 1WO3 1WO4 1WO5 1WO6 1WO7 1ZOQ 2D82 2KJE 2KWF 2L84 2L85 2LXS 2LXT 2N1A 2RNY 3DWY 3P1C 3P1D 3P1E 3P1F 3SVH 4A9K 4N3W 4N4F 4NR4 4NR5 4NR6 4NR7 4NYV 4NYW 4NYX 4OUF 4TQN 4TS8 4WHU 4YK0 5CGP 5DBM 5EIC 5ENG 5EP7 5GH9 5H85 5I83 5I86 5I89 5I8B 5I8G 5J0D 5JEM 5KTU 5KTW 5KTX 5LPJ 5LPL 5MME 5MMG 5MPK 5MPN 5MPZ 5MQ
  • PDBsum: 1JSP 1LIQ 1RDT 1WO3 1WO4 1WO5 1WO6 1WO7 1ZOQ 2D82 2KJE 2KWF 2L84 2L85 2LXS 2LXT 2N1A 2RNY 3DWY 3P1C 3P1D 3P1E 3P1F 3SVH 4A9K 4N3W 4N4F 4NR4 4NR5 4NR6 4NR7 4NYV 4NYW 4NYX 4OUF 4TQN 4TS8 4WHU 4YK0 5CGP 5DBM 5EIC 5ENG 5EP7 5GH9 5H85 5I83 5I86 5I89 5I8B 5I8G 5J0D 5JEM 5KTU 5KTW 5KTX 5LPJ 5LPL 5MME 5MMG 5MPK 5MPN 5MPZ 5MQ
  • DIP: 952
  • STRING: ENSP00000262367
• Other Databases: GeneCards:  CREBBP  Malacards:  CREBBP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004402	histone acetyltransferase activity	TAS	molecular function
GO:0003713	transcription coactivator activity	TAS	molecular function
GO:0006473	protein acetylation	TAS	biological process
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0005634	nucleus	IC	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0003682	chromatin binding	IDA	molecular function
GO:0016407	acetyltransferase activity	IDA	molecular function
GO:0006473	protein acetylation	IDA	biological process
GO:0006473	protein acetylation	IDA	biological process
GO:1990258	histone glutamine methylation	IDA	biological process
GO:0006473	protein acetylation	IDA	biological process
GO:0006473	protein acetylation	IDA	biological process
GO:0034644	cellular response to UV	IDA	biological process
GO:0003684	damaged DNA binding	IDA	molecular function
GO:0061733	peptide-lysine-N-acetyltransferase activity	IDA	molecular function
GO:0061733	peptide-lysine-N-acetyltransferase activity	IDA	molecular function
GO:0061733	peptide-lysine-N-acetyltransferase activity	IDA	molecular function
GO:0016604	nuclear body	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0031648	protein destabilization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030511	positive regulation of transforming growth factor beta receptor signaling pathway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004402	histone acetyltransferase activity	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0042025	host cell nucleus	IEA	cellular component
GO:0000123	histone acetyltransferase complex	IEA	cellular component
GO:0003712	transcription coregulator activity	IEA	molecular function
GO:0003713	transcription coactivator activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0016573	histone acetylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0048511	rhythmic process	IEA	biological process
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003713	transcription coactivator activity	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0006355	regulation of transcription, DNA-templated	TAS	biological process
GO:0065003	protein-containing complex assembly	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0004402	histone acetyltransferase activity	IEA	molecular function
GO:0016407	acetyltransferase activity	EXP	molecular function
GO:0016407	acetyltransferase activity	EXP	molecular function
GO:0032481	positive regulation of type I interferon production	TAS	biological process
GO:0042981	regulation of apoptotic process	TAS	biological process
GO:0045637	regulation of myeloid cell differentiation	TAS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	TAS	biological process
GO:1904837	beta-catenin-TCF complex assembly	TAS	biological process
GO:0002223	stimulatory C-type lectin receptor signaling pathway	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0007219	Notch signaling pathway	TAS	biological process
GO:0007221	positive regulation of transcription of Notch receptor target	TAS	biological process
GO:0019216	regulation of lipid metabolic process	TAS	biological process
GO:0045747	positive regulation of Notch signaling pathway	TAS	biological process
GO:0061418	regulation of transcription from RNA polymerase II promoter in response to hypoxia	TAS	biological process
GO:1900034	regulation of cellular response to heat	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001085	RNA polymerase II transcription factor binding	IPI	molecular function
GO:0000987	cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0003714	transcription corepressor activity	IDA	molecular function
GO:0001102	RNA polymerase II activating transcription factor binding	TAS	molecular function
GO:0003713	transcription coactivator activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0008589	regulation of smoothened signaling pathway	TAS	biological process
GO:0042733	embryonic digit morphogenesis	TAS	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0043426	MRF binding	IDA	molecular function
GO:0018076	N-terminal peptidyl-lysine acetylation	IDA	biological process
GO:0016573	histone acetylation	IDA	biological process
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0016407	acetyltransferase activity	IDA	molecular function
GO:0004402	histone acetyltransferase activity	IDA	molecular function
GO:0006473	protein acetylation	IDA	biological process
GO:0016407	acetyltransferase activity	IDA	molecular function
GO:0006355	regulation of transcription, DNA-templated	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0002039	p53 binding	IPI	molecular function
GO:0001666	response to hypoxia	TAS	biological process
GO:0008134	transcription factor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003713	transcription coactivator activity	IPI	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0042592	homeostatic process	NAS	biological process
GO:0007165	signal transduction	NAS	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05016	Huntington disease
hsa05165	Human papillomavirus infection
hsa05206	MicroRNAs in cancer
hsa04024	cAMP signaling pathway
hsa05166	Human T-cell leukemia virus 1 infection
hsa05203	Viral carcinogenesis
hsa04310	Wnt signaling pathway
hsa05167	Kaposi sarcoma-associated herpesvirus infection
hsa05152	Tuberculosis
hsa04630	JAK-STAT signaling pathway
hsa05164	Influenza A
hsa05161	Hepatitis B
hsa04110	Cell cycle
hsa04068	FoxO signaling pathway
hsa04935	Growth hormone synthesis, secretion and action
hsa04919	Thyroid hormone signaling pathway
hsa04922	Glucagon signaling pathway
hsa04916	Melanogenesis
hsa04066	HIF-1 signaling pathway
hsa04350	TGF-beta signaling pathway
hsa05215	Prostate cancer
hsa04720	Long-term potentiation
hsa04520	Adherens junction
hsa04330	Notch signaling pathway
hsa05211	Renal cell carcinoma

Diseases

Associated diseases	References
Follicular lymphoma	KEGG:H01613
Rubinstein-Taybi syndrome	KEGG:H00504
Follicular lymphoma	KEGG:H01613
Rubinstein-Taybi syndrome	KEGG:H00504
Huntington's disease	PMID:11264541
acute myeloid leukemia	PMID:12461753
acute lymphocytic leukemia	PMID:25917266
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq