MultifacetedProtDB - Bologna Biocomputing Group

EC number	EC number description
2.3.1.-	Transferases; Acyltransferases; Transferring groups other than aminoacyl groups;
2.3.1.48	Transferases; Acyltransferases; Transferring groups other than aminoacyl groups; histone acetyltransferase

Structure

PDB	Resolution (Å)	PDB name
1JSP		NMR Structure of CBP Bromodomain in complex with p53 peptide
1LIQ		Non-native Solution Structure of a fragment of the CH1 domain of CBP
1RDT	2.4	Crystal Structure of a new rexinoid bound to the RXRalpha ligand binding doamin in the RXRalpha/PPARgamma heterodimer
1WO3		Solution structure of Minimal Mutant 1 (MM1): Multiple alanine mutant of non-native CHANCE domain
1WO4		Solution structure of Minimal Mutant 2 (MM2): Multiple alanine mutant of non-native CHANCE domain
1WO5		Solution structure of Designed Functional Finger 2 (DFF2): Designed mutant based on non-native CHANCE domain
1WO6		Solution structure of Designed Functional Finger 5 (DFF5): Designed mutant based on non-native CHANCE domain
1WO7		Solution structure of Designed Functional Finger 7 (DFF7): Designed mutant based on non-native CHANCE domain
1ZOQ	2.37	IRF3-CBP complex
2D82		Target Structure-Based Discovery of Small Molecules that Block Human p53 and CREB Binding Protein (CBP) Association
2KJE		NMR structure of CBP TAZ2 and adenoviral E1A complex
2KWF		The structure of E-protein activation domain 1 bound to the KIX domain of CBP/p300 elucidates leukemia induction by E2A-PBX1
2L84		Solution NMR structures of CBP bromodomain with small molecule j28
2L85		Solution NMR structures of CBP bromodomain with small molecule of HBS
2LXS		Allosteric communication in the KIX domain proceeds through dynamic re-packing of the hydrophobic core
2LXT		Allosteric communication in the KIX domain proceeds through dynamic re-packing of the hydrophobic core
2N1A		Docked structure between SUMO1 and ZZ-domain from CBP
2RNY		Complex Structures of CBP Bromodomain with H4 ack20 Peptide
3DWY	1.98	Crystal Structure of the Bromodomain of Human CREBBP
3P1C	1.82	Crystal structure of the bromodomain of human CREBBP in complex with acetylated lysine
3P1D	1.86	Crystal structure of the bromodomain of human CREBBP in complex with N-Methyl-2-pyrrolidone (NMP)
3P1E	1.8	Crystal structure of the bromodomain of human CREBBP in complex with dimethyl sulfoxide (DMSO)
3P1F	1.63	Crystal structure of the bromodomain of human CREBBP in complex with a hydroquinazolin ligand
3SVH	1.8	Crystal Structure of the bromdomain of human CREBBP in complex with a 3,5-dimethylisoxazol ligand
4A9K	1.81	BROMODOMAIN OF HUMAN CREBBP WITH N-(4-hydroxyphenyl)acetamide
4N3W	1.9	Crystal Structure of the Bromodomain-PHD Finger Module of Human Transcriptional Co-Activator CBP in complex with Acetylated Histone 4 Peptide (H4K20ac).
4N4F	1.83	Crystal Structure of the Bromodomain-PHD Finger Module of Human Transcriptional Co-Activator CBP in complex with di-Acetylated Histone 4 Peptide (H412acK16ac).
4NR4	1.69	Crystal structure of the bromodomain of human CREBBP in complex with an isoxazolyl-benzimidazole ligand
4NR5	1.66	Crystal structure of the bromodomain of human CREBBP in complex with an isoxazolyl-benzimidazole ligand
4NR6	1.66	Crystal structure of the bromodomain of human CREBBP in complex with an oxazepin ligand
4NR7	1.2	Crystal structure of the bromodomain of human CREBBP in complex with an isoxazolyl-benzimidazole ligand
4NYV	1.83	Crystal Structure of the Bromodomain of human CREBBP in complex with a quinazolin-one ligand
4NYW	1.43	Crystal Structure of the Bromodomain of human CREBBP in complex with a dihydroquinoxalinone ligand
4NYX	1.1	Crystal Structure of the Bromodomain of human CREBBP in complex with a dihydroquinoxalinone ligand
4OUF	1.4	Crystal Structure of CBP bromodomain
4TQN	1.7	Crystal structure of the bromodomain of human CREBBP in complex with UL04
4TS8	2.0	Crystal structure of the bromodomain of human CREBBP in complex with XZ08
4WHU	2.11	BROMO domain of CREB binding protein
4YK0	1.65	Crystal structure of the CBP bromodomain in complex with CPI098
5CGP	1.96	Selective pharmacological inhibition of the CREB binding protein bromodomain regulates inflammatory cytokines in macrophages and RGS4 in neurons
5DBM	1.86	Crystal structure of the CBP bromodomain in complex with CPI703
5EIC	1.5	Crystal structure of the bromodomain of human CREBBP in complex with AYC
5ENG	1.3	Crystal structure of the bromodomain of human CREBBP in complex with UP39
5EP7	1.198	Crystal structure of the bromodomain of human CREBBP in complex with UN32
5GH9	1.451	Crystal structure of CBP Bromodomain with H3K56ac peptide
5H85	1.701	Crystal structure of the bromodomain of human CREBBP in complex with UO37D
5I83	1.35	Crystal structure of the bromodomain of human CREBBP bound to the benzodiazepinone G02773986
5I86	1.05	Crystal structure of the bromodomain of human CREBBP bound to the benzodiazepinone G02778174
5I89	1.07	Crystal structure of the bromodomain of human CREBBP bound to the benzodiazepinone G02857790
5I8B	1.5218	CBP in complex with Cpd23 ((R)-6-(3-(benzyloxy)phenyl)-4-methyl-1,3,4,5-tetrahydro-2H-benzo[b][1,4]diazepin-2-one)
5I8G	1.41	CBP in complex with Cpd637 ((R)-4-methyl-6-(1-methyl-3-(1-methyl-1H-pyrazol-4-yl)-1H-indazol-5-yl)-1,3,4,5-tetrahydro-2H-benzo[b][1,4]diazepin-2-one)
5J0D	1.05	Crystal structure of the bromodomain of human CREBBP in complex with a benzoxazepine compound
5JEM	2.5	Complex of IRF-3 with CBP
5KTU	1.38	Crystal structure of the bromodomain of human CREBBP bound to pyrazolopiperidine scaffold
5KTW	1.087	CREBBP bromodomain in complex with Cpd 44 (3-((5-acetyl-1-(cyclopropylmethyl)-4,5,6,7-tetrahydro-1H-pyrazolo[4,3-c]pyridin-3-yl)amino)-N-isopropylbenzamide)
5KTX	1.27	CREBBP bromodomain in complex with Cpd59 ((S)-1-(3-((2-fluoro-4-(1-methyl-1H-pyrazol-4-yl)phenyl)amino)-1-(tetrahydrofuran-3-yl)-6,7-dihydro-1H-pyrazolo[4,3-c]pyridin-5(4H)-yl)ethanone)
5LPJ	1.65	Crystal structure of the bromodomain of human CREBBP bound to the inhibitor XDM1
5LPL	1.65	Crystal structure of the bromodomain of human CREBBP bound to the inhibitor XDM3c
5MME	1.35	Crystal structure of CREBBP bromodomain complexd with US46C
5MMG	1.23	Crystal structure of CREBBP bromodomain complexed with UT07C
5MPK	1.9	Crystal structure of CREBBP bromodomain complexed with DK19
5MPN	1.23	Crystal structure of CREBBP bromodomain complexed with FA26
5MPZ	1.4	Crystal structure of CREBBP bromodomain complexed with CBP007
5MQE	1.65	Crystal structure of CREBBP bromodomain complexed with CBP006
5MQG	1.35	Crystal structure of CREBBP bromodomain complexed with CBP015
5MQK	1.53	Crystal structure of CREBBP bromodomain complexed with CBP019
5NLK	1.8	Crystal structure of CREBBP bromodomain complexd with US13A
5NRW	1.7	Crystal structure of the human bromodomain of CREBBP bound to the inhibitor XDM4
5NU3	1.75	Crystal structure of the human bromodomain of CREBBP bound to the inhibitor XDM-CBP
5OWK	1.25	Crystal structure of CREBBP bromodomain complexed with DSPB2A002
5SVH	2.05	Crystal structure of the KIX domain of CBP in complex with a MLL/c-Myb chimera
5TB6	1.79	Structure of bromodomain of CREBBP with a pyrazolo[4,3-c]pyridin fragment
5W0E	1.41	CREBBP bromodomain in complex with Cpd19 (3-(7-(difluoromethyl)-6-(1-methyl-1H-pyrazol-4-yl)-3,4-dihydroquinolin-1(2H)-yl)-N-methyl-1-(tetrahydro-2H-pyran-4-yl)-1,4,6,7-tetrahydro-5H-pyrazolo[4,3-c]pyridine-5-carboxamide)
5W0F	1.6	CREBBP Bromodomain in complex with Cpd3 ((S)-1-(3-(6-(1-methyl-1H-pyrazol-4-yl)-3,4-dihydroquinolin-1(2H)-yl)-1-(tetrahydrofuran-3-yl)-1,4,6,7-tetrahydro-5H-pyrazolo[4,3-c]pyridin-5-yl)ethan-1-one)
5W0L	1.549	CREBBP Bromodomain in complex with Cpd10 (1-(3-(7-(difluoromethyl)-6-(1-methyl-1H-pyrazol-4-yl)-3,4-dihydroquinolin-1(2H)-yl)-1-(tetrahydro-2H-pyran-4-yl)-1,4,6,7-tetrahydro-5H-pyrazolo[4,3-c]pyridin-5-yl)ethan-1-one)
5W0Q	1.7	CREBBP Bromodomain in complex with Cpd17 (N,2,7-trimethyl-2,3-dihydro-4H-benzo[b][1,4]oxazine-4-carboxamide)
5XXH	1.62	Crystal Structure Analysis of the CBP
6ALB	2.053	CREBBP bromodomain in complex with Cpd 30 (1-(3-(3-(1-methyl-1H-pyrazol-4-yl)isoquinolin-8-yl)-1-(tetrahydro-2H-pyran-4-yl)-1,4,6,7-tetrahydro-5H-pyrazolo[4,3-c]pyridin-5-yl)ethan-1-one)
6ALC	1.391	CREBBP bromodomain in complex with Cpd 4 (1-(1-(cyclopropylmethyl)-3-(1H-indol-4-yl)-1,4,6,7-tetrahydro-5H-pyrazolo[4,3-c]pyridin-5-yl)ethan-1-one)
6AXQ	1.3	CREBBP bromodomain in complex with Cpd6 (methyl 1H-indole-3-carboxylate)
6AY3	1.391	CREBBP bromodomain in complex with Cpd16 (5-(7-(difluoromethyl)-6-(1-methyl-1H-pyrazol-4-yl)-3,4-dihydroquinolin-1(2H)-yl)-N-methyl-1H-indole-3-carboxamide)
6AY5	1.44	CREBBP bromodomain in complex with Cpd17 (5-(7-(difluoromethyl)-6-(1-methyl-1H-pyrazol-4-yl)-3,4-dihydroquinolin-1(2H)-yl)-3-methylbenzo[d]thiazol-2(3H)-one)
6DMK	1.66	A multiconformer ligand model of an isoxazolyl-benzimidazole ligand bound to the bromodomain of human CREBBP
6ES5		Structure and dynamics conspire in the evolution of affinity between intrinsically disordered proteins
6ES6		Structure and dynamics conspire in the evolution of affinity between intrinsically disordered proteins
6ES7		Structure and dynamics conspire in the evolution of affinity between intrinsically disordered proteins
6FQO	1.35	Crystal structure of CREBBP bromodomain complexd with DT29
6FQT	1.8	Crystal structure of CREBBP bromodomain complexd with DR46
6FQU	1.43	Crystal structure of CREBBP bromodomain complexd with DR09
6FR0	1.5	Crystal structure of CREBBP bromodomain complexd with PB08
6FRF	2.1	Crystal structure of CREBBP bromodomain complexd with PA10
6LQX	2.46	Crystal structure of the CBP bromodomain in complex with small molecule LC-CPin7
6M64	1.45	Crystal structure of SMAD2 in complex with CBP
6QST	2.1	Structure of CREBBP bromodomain with compound 2 bound
6SQE	1.506	Crystal structure of CREBBP bromodomain complexed with KD341
6SQF	2.006	Crystal structure of CREBBP bromodomain complexed with LB32A
6SQM	1.8	Crystal structure of CREBBP bromodomain complexed with LA36
6SXX	2.01	Crystal structure of the bromodomain of human CREBBP in complex with ACA007
6YIJ	2.2	Crystal structure of the CREBBP bromodomain in complex with a benzo-diazepine ligand
6YIK	1.7	Crystal structure of the CREBBP bromodomain in complex with a tetrahydroquinoxaline ligand
6YIL	1.22	Crystal structure of the CREBBP bromodomain in complex with a tetrahydroquinoxaline ligand
6YIM	1.23	Crystal structure of the CREBBP bromodomain in complex with a benzo-diazepine ligand
7CO1	3.3	Crystal structure of SMAD2 in complex with wild-type CBP
7EVJ	2.57	Crystal structure of CBP bromodomain liganded with 9c
7JFL	1.68	Crystal structure of human phosphorylated IRF-3 bound to CBP
7JFM	2.23	Crystal structure of mouse phosphorylated IRF-3 bound to CBP
7JUO	2.2	CBP bromodomain complexed with YF2-23
7KPY	1.7	Crystal structure of CBP bromodomain liganded with UMB298 (compound 23)
7RLE	2.5	Crystal structure of PPAR gamma in complex with CREB-binding protein and agonist GW1929
7TB3	2.57	cryo-EM structure of MBP-KIX-apoferritin
7TBH	2.3	cryo-EM structure of MBP-KIX-apoferritin complex with peptide 7
7WX2	1.24	CBP-BrD complexed with NEO2734
7XH6	1.75	Crystal structure of CBP bromodomain liganded with CCS1477
7XHE	1.59	Crystal structure of CBP bromodomain liganded with CCS151
7XI0	1.62	Crystal structure of CBP bromodomain liganded with CCS150
7XIJ	1.82	Crystal structure of CBP bromodomain liganded with Y08175
7XM7	2.36	Crystal Structure of the CBP in complex with the Y08188
7XNE	2.17	Crystal structure of CBP bromodomain liganded with Y08284
7XNG	2.35	Crystal structure of CBP bromodomain liganded with Y08092(31g)

GO term

GO ontology	GO term	GO description
Biological Process	GO:0018076	N-terminal peptidyl-lysine acetylation
Biological Process	GO:0038061	NIK/NF-kappaB signaling
Biological Process	GO:0034644	cellular response to UV
Biological Process	GO:0031669	cellular response to nutrient levels
Biological Process	GO:0042733	embryonic digit morphogenesis
Biological Process	GO:0016573	histone acetylation
Biological Process	GO:0042592	homeostatic process
Biological Process	GO:0016479	negative regulation of transcription by RNA polymerase I
Biological Process	GO:0000122	negative regulation of transcription by RNA polymerase II
Biological Process	GO:0045893	positive regulation of DNA-templated transcription
Biological Process	GO:1900182	positive regulation of protein localization to nucleus
Biological Process	GO:0045944	positive regulation of transcription by RNA polymerase II
Biological Process	GO:0030511	positive regulation of transforming growth factor beta receptor signaling pathway
Biological Process	GO:0006473	protein acetylation
Biological Process	GO:0031648	protein destabilization
Biological Process	GO:0065003	protein-containing complex assembly
Biological Process	GO:0006355	regulation of DNA-templated transcription
Biological Process	GO:1900034	regulation of cellular response to heat
Biological Process	GO:0008589	regulation of smoothened signaling pathway
Biological Process	GO:0001666	response to hypoxia
Biological Process	GO:0048511	rhythmic process
Biological Process	GO:0007165	signal transduction
Biological Process	GO:0002223	stimulatory C-type lectin receptor signaling pathway
Molecular Function	GO:0140297	DNA-binding transcription factor binding
Molecular Function	GO:0043426	MRF binding
Molecular Function	GO:0061629	RNA polymerase II-specific DNA-binding transcription factor binding
Molecular Function	GO:0016407	acetyltransferase activity
Molecular Function	GO:0031490	chromatin DNA binding
Molecular Function	GO:0003682	chromatin binding
Molecular Function	GO:0003684	damaged DNA binding
Molecular Function	GO:0004402	histone acetyltransferase activity
Molecular Function	GO:0002039	p53 binding
Molecular Function	GO:0034212	peptide N-acetyltransferase activity
Molecular Function	GO:0061733	peptide-lysine-N-acetyltransferase activity
Molecular Function	GO:0003713	transcription coactivator activity
Molecular Function	GO:0001223	transcription coactivator binding
Molecular Function	GO:0003714	transcription corepressor activity
Molecular Function	GO:0008270	zinc ion binding
Cellular Component	GO:0000785	chromatin
Cellular Component	GO:0005737	cytoplasm
Cellular Component	GO:0005829	cytosol
Cellular Component	GO:0000123	histone acetyltransferase complex
Cellular Component	GO:0016604	nuclear body
Cellular Component	GO:0005654	nucleoplasm
Cellular Component	GO:0005634	nucleus
Cellular Component	GO:0005667	transcription regulator complex

InterPro / Pfam

InterPro	InterPro name
IPR000197	Zinc finger, TAZ-type
IPR000433	Zinc finger, ZZ-type
IPR001487	Bromodomain
IPR003101	Coactivator CBP, KIX domain
IPR009110	Nuclear receptor coactivator, interlocking
IPR010303	CREB-binding protein/p300, atypical RING domain
IPR013083	Zinc finger, RING/FYVE/PHD-type
IPR013178	Histone acetyltransferase Rtt109/CBP
IPR014744	Nuclear receptor coactivator, CREB-bp-like, interlocking
IPR018359	Bromodomain, conserved site
IPR031162	CBP/p300-type histone acetyltransferase domain
IPR035898	TAZ domain superfamily
IPR036427	Bromodomain-like superfamily
IPR036529	Coactivator CBP, KIX domain superfamily
IPR037073	Nuclear receptor coactivator, CREB-bp-like, interlocking domain superfamily
IPR038547	CBP/p300, atypical RING domain superfamily
IPR043145	Zinc finger, ZZ-type superfamily

Pfam	Pfam name
PF00439	Bromodomain
PF00569	Zinc finger, ZZ type
PF02135	TAZ zinc finger
PF02172	KIX domain
PF06001	CREB-binding protein/p300, atypical RING domain
PF08214	Histone acetylation protein
PF09030	Creb binding

Reactome

Reactome	Reactome Name	Node type	Reactome Root	Reactome Root Name
R-HSA-1234158	Regulation of gene expression by Hypoxia-inducible Factor	Leaf	R-HSA-8953897	Cellular responses to stimuli
R-HSA-1368082	RORA activates gene expression	Leaf	R-HSA-400253	Circadian Clock
R-HSA-1368108	BMAL1:CLOCK,NPAS2 activates circadian gene expression	Leaf	R-HSA-400253	Circadian Clock
R-HSA-1912408	Pre-NOTCH Transcription and Translation	Leaf	R-HSA-162582	Signal Transduction
R-HSA-1989781	PPARA activates gene expression	Leaf	R-HSA-1430728	Metabolism
R-HSA-201722	Formation of the beta-catenin:TCF transactivating complex	Internal node	R-HSA-162582	Signal Transduction
R-HSA-210744	Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells	Leaf	R-HSA-1266738	Developmental Biology
R-HSA-2122947	NOTCH1 Intracellular Domain Regulates Transcription	Leaf	R-HSA-162582	Signal Transduction
R-HSA-2151201	Transcriptional activation of mitochondrial biogenesis	Leaf	R-HSA-1852241	Organelle biogenesis and maintenance
R-HSA-2426168	Activation of gene expression by SREBF (SREBP)	Leaf	R-HSA-1430728	Metabolism
R-HSA-2644606	Constitutive Signaling by NOTCH1 PEST Domain Mutants	Leaf	R-HSA-1643685	Disease
R-HSA-2894862	Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants	Leaf	R-HSA-1643685	Disease
R-HSA-3134973	LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production	Leaf	R-HSA-168256	Immune System
R-HSA-3214847	HATs acetylate histones	Leaf	R-HSA-4839726	Chromatin organization
R-HSA-3371568	Attenuation phase	Leaf	R-HSA-8953897	Cellular responses to stimuli
R-HSA-350054	Notch-HLH transcription pathway	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-381340	Transcriptional regulation of white adipocyte differentiation	Leaf	R-HSA-1266738	Developmental Biology
R-HSA-3899300	SUMOylation of transcription cofactors	Leaf	R-HSA-392499	Metabolism of proteins
R-HSA-400206	Regulation of lipid metabolism by PPARalpha	Internal node	R-HSA-1430728	Metabolism
R-HSA-400253	Circadian Clock	Root	R-HSA-400253	Circadian Clock
R-HSA-5617472	Activation of anterior HOX genes in hindbrain development during early embryogenesis	Leaf	R-HSA-1266738	Developmental Biology
R-HSA-5621575	CD209 (DC-SIGN) signaling	Leaf	R-HSA-168256	Immune System
R-HSA-6803204	TP53 Regulates Transcription of Genes Involved in Cytochrome C Release	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-8866907	Activation of the TFAP2 (AP-2) family of transcription factors	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-8939246	RUNX1 regulates transcription of genes involved in differentiation of myeloid cells	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-8941856	RUNX3 regulates NOTCH signaling	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-9013508	NOTCH3 Intracellular Domain Regulates Transcription	Leaf	R-HSA-162582	Signal Transduction
R-HSA-9013695	NOTCH4 Intracellular Domain Regulates Transcription	Leaf	R-HSA-162582	Signal Transduction
R-HSA-9018519	Estrogen-dependent gene expression	Leaf	R-HSA-162582	Signal Transduction
R-HSA-918233	TRAF3-dependent IRF activation pathway	Leaf	R-HSA-168256	Immune System
R-HSA-933541	TRAF6 mediated IRF7 activation	Leaf	R-HSA-168256	Immune System
R-HSA-9614657	FOXO-mediated transcription of cell death genes	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-9617629	Regulation of FOXO transcriptional activity by acetylation	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-9705671	SARS-CoV-2 activates/modulates innate and adaptive immune responses	Leaf	R-HSA-1643685	Disease
R-HSA-9707564	Cytoprotection by HMOX1	Internal node	R-HSA-8953897	Cellular responses to stimuli
R-HSA-9707616	Heme signaling	Leaf	R-HSA-8953897	Cellular responses to stimuli
R-HSA-9759194	Nuclear events mediated by NFE2L2	Internal node	R-HSA-8953897	Cellular responses to stimuli
R-HSA-9768919	NPAS4 regulates expression of target genes	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-9793380	Formation of paraxial mesoderm	Internal node	R-HSA-1266738	Developmental Biology
R-HSA-9818027	NFE2L2 regulating anti-oxidant/detoxification enzymes	Leaf	R-HSA-8953897	Cellular responses to stimuli
R-HSA-9818028	NFE2L2 regulates pentose phosphate pathway genes	Leaf	R-HSA-8953897	Cellular responses to stimuli

Subcellular location

Location	ECO term	Pubmed
Cytoplasm	ECO:0000269	PubMed:12929931
Nucleus	ECO:0000269	PubMed:12929931
Nucleus	ECO:0000269	PubMed:15488321
Nucleus	ECO:0000269	PubMed:25593309

Interactor | Variant | Drug

Phenotype

HPO ID	HPO name
HP:0007086	Social and occupational deterioration
HP:0001629	Ventricular septal defect
HP:0031251	Abnormal subclavian artery morphology
HP:0011470	Nasogastric tube feeding in infancy
HP:0000457	Depressed nasal ridge
HP:0000787	Nephrolithiasis
HP:0000520	Proptosis
HP:0001382	Joint hypermobility
HP:0005322	Prominent nasal septum
HP:0002835	Aspiration
HP:0000175	Cleft palate
HP:0000034	Hydrocele testis
HP:0000270	Delayed cranial suture closure
HP:0001511	Intrauterine growth retardation
HP:0000488	Retinopathy
HP:0001650	Aortic valve stenosis
HP:0100716	Self-injurious behavior
HP:0000463	Anteverted nares
HP:0002162	Low posterior hairline
HP:0000430	Underdeveloped nasal alae
HP:0011968	Feeding difficulties
HP:0001159	Syndactyly
HP:0000539	Abnormality of refraction
HP:0025269	Panic attack
HP:0012448	Delayed myelination
HP:0002664	Neoplasm
HP:0000126	Hydronephrosis
HP:0010775	Vascular ring
HP:0002311	Incoordination
HP:0000670	Carious teeth
HP:0020206	Simple ear
HP:0005280	Depressed nasal bridge
HP:0034227	Aortic isthmus hypoplasia
HP:0002370	Poor coordination
HP:0002144	Tethered cord
HP:0012758	Neurodevelopmental delay
HP:0000316	Hypertelorism
HP:0011229	Broad eyebrow
HP:0000023	Inguinal hernia
HP:0008872	Feeding difficulties in infancy
HP:0002705	High, narrow palate
HP:0002002	Deep philtrum
HP:0000490	Deeply set eye
HP:0001852	Sandal gap
HP:0002317	Unsteady gait
HP:0001007	Hirsutism
HP:0000639	Nystagmus
HP:0030680	Abnormality of cardiovascular system morphology
HP:0011947	Respiratory tract infection
HP:0000506	Telecanthus
HP:0010055	Broad hallux
HP:0001627	Abnormal heart morphology
HP:0000508	Ptosis
HP:0001508	Failure to thrive
HP:0000722	Compulsive behaviors
HP:0012368	Flat face
HP:0001249	Intellectual disability
HP:0000478	Abnormality of the eye
HP:0000407	Sensorineural hearing impairment
HP:0010674	Abnormal curvature of the vertebral column
HP:0000327	Hypoplasia of the maxilla
HP:0009765	Low hanging columella
HP:0011220	Prominent forehead
HP:0003593	Infantile onset
HP:0002866	Hypoplastic iliac wing
HP:0031207	Hepatic hemangioma
HP:0000708	Atypical behavior
HP:0010302	Spinal cord tumor
HP:0001513	Obesity
HP:0000431	Wide nasal bridge
HP:0002183	Phonophobia
HP:0008752	Laryngeal cartilage malformation
HP:0002697	Parietal foramina
HP:0000582	Upslanted palpebral fissure
HP:0004411	Deviated nasal septum
HP:0001181	Adducted thumb
HP:0011304	Broad thumb
HP:0005301	Persistent left superior vena cava
HP:0000218	High palate
HP:0000559	Corneal scarring
HP:0000932	Abnormal posterior cranial fossa morphology
HP:0030434	Pilomatrixoma
HP:0001274	Agenesis of corpus callosum
HP:0000752	Hyperactivity
HP:0009836	Broad distal phalanx of finger
HP:0000574	Thick eyebrow
HP:0000718	Aggressive behavior
HP:0002700	Large foramen magnum
HP:0031546	Cardiac conduction abnormality
HP:0002353	EEG abnormality
HP:0012450	Chronic constipation
HP:0001909	Leukemia
HP:0001347	Hyperreflexia
HP:0000119	Abnormality of the genitourinary system
HP:0001956	Truncal obesity
HP:0002869	Flared iliac wing
HP:0005363	Humoral immunodeficiency
HP:0005484	Secondary microcephaly
HP:0002000	Short columella
HP:0000260	Wide anterior fontanel
HP:0001634	Mitral valve prolapse
HP:0000767	Pectus excavatum
HP:0000717	Autism
HP:0000729	Autistic behavior
HP:0002219	Facial hypertrichosis
HP:0030890	Hyperintensity of cerebral white matter on MRI
HP:0000278	Retrognathia
HP:0000293	Full cheeks
HP:0001762	Talipes equinovarus
HP:0000689	Dental malocclusion
HP:0000387	Absent earlobe
HP:0000369	Low-set ears
HP:0002020	Gastroesophageal reflux
HP:0400005	Short ear
HP:0000444	Convex nasal ridge
HP:0000668	Hypodontia
HP:0004322	Short stature
HP:0000540	Hypermetropia
HP:0008689	Bilateral cryptorchidism
HP:0001128	Trichiasis
HP:0004383	Hypoplastic left heart
HP:0010442	Polydactyly
HP:0001747	Accessory spleen
HP:0000076	Vesicoureteral reflux
HP:0000494	Downslanted palpebral fissures
HP:0000294	Low anterior hairline
HP:0003298	Spina bifida occulta
HP:0000411	Protruding ear
HP:0000365	Hearing impairment
HP:0000006	Autosomal dominant inheritance
HP:0010621	Cutaneous syndactyly of toes
HP:0000405	Conductive hearing impairment
HP:0002750	Delayed skeletal maturation
HP:0001631	Atrial septal defect
HP:0002650	Scoliosis
HP:0010314	Premature thelarche
HP:0008070	Sparse hair
HP:0009778	Short thumb
HP:0006297	Enamel hypoplasia
HP:0012745	Short palpebral fissure
HP:0000695	Natal tooth
HP:0030047	Abnormal lateral ventricle morphology
HP:0000189	Narrow palate
HP:0000160	Narrow mouth
HP:0001537	Umbilical hernia
HP:0009834	Abnormal proximal phalanx morphology of the hand
HP:0000733	Abnormal repetitive mannerisms
HP:0002788	Recurrent upper respiratory tract infections
HP:0000286	Epicanthus
HP:0001845	Overlapping toe
HP:0000501	Glaucoma
HP:0002098	Respiratory distress
HP:0001561	Polyhydramnios
HP:0001250	Seizure
HP:0000581	Blepharophimosis
HP:0001763	Pes planus
HP:0001252	Hypotonia
HP:0000079	Abnormality of the urinary system
HP:0002019	Constipation
HP:0000047	Hypospadias
HP:0100852	Abnormal fear/anxiety-related behavior
HP:0003577	Congenital onset
HP:0000322	Short philtrum
HP:0000273	Facial grimacing
HP:0008107	Plantar crease between first and second toes
HP:0004209	Clinodactyly of the 5th finger
HP:0002566	Intestinal malrotation
HP:0000712	Emotional lability
HP:0000957	Cafe-au-lait spot
HP:0001385	Hip dysplasia
HP:0002090	Pneumonia
HP:0002999	Patellar dislocation
HP:0001371	Flexion contracture
HP:0001680	Coarctation of aorta
HP:0001344	Absent speech
HP:0007099	Chiari type I malformation
HP:0003196	Short nose
HP:0008897	Postnatal growth retardation
HP:0000321	Square face
HP:0002414	Spina bifida
HP:0000319	Smooth philtrum
HP:0031936	Delayed ability to walk
HP:0000742	Self-mutilation
HP:0000750	Delayed speech and language development
HP:0003319	Abnormality of the cervical spine
HP:0005895	Radial deviation of thumb terminal phalanx
HP:0002007	Frontal bossing
HP:0003745	Sporadic
HP:0000589	Coloboma
HP:0010059	Broad hallux phalanx
HP:0000618	Blindness
HP:0005743	Avascular necrosis of the capital femoral epiphysis
HP:0001263	Global developmental delay
HP:0000343	Long philtrum
HP:0000448	Prominent nose
HP:0010051	Deviation of the hallux
HP:0001601	Laryngomalacia
HP:0100710	Impulsivity
HP:0001647	Bicuspid aortic valve
HP:0002858	Meningioma
HP:0000954	Single transverse palmar crease
HP:0011682	Perimembranous ventricular septal defect
HP:0002341	Cervical cord compression
HP:0000028	Cryptorchidism
HP:0011069	Supernumerary tooth
HP:0010803	Everted upper lip vermilion
HP:0002205	Recurrent respiratory infections
HP:0000527	Long eyelashes
HP:0000756	Agoraphobia
HP:0010066	Duplication of phalanx of hallux
HP:0001510	Growth delay
HP:0001212	Prominent fingertip pads
HP:0005306	Capillary hemangioma
HP:0000010	Recurrent urinary tract infections
HP:0011335	Frontal hirsutism
HP:0002099	Asthma
HP:0002870	Obstructive sleep apnea
HP:0000219	Thin upper lip vermilion
HP:0010562	Keloids
HP:0000077	Abnormality of the kidney
HP:0002553	Highly arched eyebrow
HP:0001642	Pulmonic stenosis
HP:0001042	High axial triradius
HP:0001388	Joint laxity
HP:0000518	Cataract
HP:0001518	Small for gestational age
HP:0003396	Syringomyelia
HP:0000049	Shawl scrotum
HP:0011238	Prominent inferior crus of antihelix
HP:0006200	Widened distal phalanges
HP:0000446	Narrow nasal bridge
HP:0002236	Frontal upsweep of hair
HP:0000579	Nasolacrimal duct obstruction
HP:0000678	Dental crowding
HP:0002308	Chiari malformation
HP:0000486	Strabismus
HP:0000252	Microcephaly
HP:0001999	Abnormal facial shape
HP:0000396	Overfolded helix
HP:0000347	Micrognathia
HP:0009715	Papillary cystadenoma of the epididymis
HP:0000388	Otitis media
HP:0001655	Patent foramen ovale
HP:0001643	Patent ductus arteriosus
HP:0006349	Agenesis of permanent teeth
HP:0000736	Short attention span
HP:0000735	Impaired social interactions
HP:0005374	Cellular immunodeficiency
HP:0410263	Brain imaging abnormality
HP:0011087	Talon cusp
HP:0001273	Abnormal corpus callosum morphology
HP:0003083	Dislocated radial head

Tissue and cell type

Tissue	Cell type	Expression level	Reliability
adipose tissue	adipocytes	Low	Supported
adrenal gland	glandular cells	Medium	Supported
appendix	glandular cells	Medium	Supported
appendix	lymphoid tissue	Medium	Supported
bone marrow	hematopoietic cells	Low	Supported
breast	adipocytes	Medium	Supported
breast	glandular cells	Medium	Supported
breast	myoepithelial cells	Medium	Supported
bronchus	respiratory epithelial cells	Medium	Supported
caudate	glial cells	Medium	Supported
caudate	neuronal cells	Low	Supported
cerebellum	Purkinje cells	High	Supported
cerebellum	cells in granular layer	High	Supported
cerebellum	cells in molecular layer	High	Supported
cerebral cortex	endothelial cells	Low	Supported
cerebral cortex	glial cells	Low	Supported
cerebral cortex	neuronal cells	Medium	Supported
cerebral cortex	neuropil	Medium	Supported
cervix	glandular cells	Medium	Supported
cervix	squamous epithelial cells	High	Supported
colon	endothelial cells	Medium	Supported
colon	glandular cells	High	Supported
colon	peripheral nerve/ganglion	Medium	Supported
duodenum	glandular cells	Medium	Supported
endometrium 1	cells in endometrial stroma	High	Supported
endometrium 1	glandular cells	High	Supported
endometrium 2	cells in endometrial stroma	High	Supported
endometrium 2	glandular cells	High	Supported
epididymis	glandular cells	Medium	Supported
esophagus	squamous epithelial cells	High	Supported
fallopian tube	glandular cells	High	Supported
gallbladder	glandular cells	High	Supported
heart muscle	cardiomyocytes	Medium	Supported
hippocampus	glial cells	Low	Supported
hippocampus	neuronal cells	Low	Supported
kidney	cells in glomeruli	Medium	Supported
kidney	cells in tubules	Medium	Supported
liver	cholangiocytes	Medium	Supported
liver	hepatocytes	Medium	Supported
lung	alveolar cells type I	Medium	Supported
lung	alveolar cells type II	Medium	Supported
lung	macrophages	Medium	Supported
lymph node	germinal center cells	Medium	Supported
lymph node	non-germinal center cells	Medium	Supported
nasopharynx	respiratory epithelial cells	High	Supported
oral mucosa	squamous epithelial cells	High	Supported
ovary	ovarian stroma cells	Medium	Supported
pancreas	exocrine glandular cells	Medium	Supported
pancreas	pancreatic endocrine cells	Medium	Supported
parathyroid gland	glandular cells	Medium	Supported
placenta	cytotrophoblasts	High	Supported
placenta	decidual cells	High	Supported
placenta	endothelial cells	High	Supported
placenta	hofbauer cells	High	Supported
prostate	glandular cells	Medium	Supported
rectum	glandular cells	High	Supported
salivary gland	glandular cells	Medium	Supported
seminal vesicle	glandular cells	Medium	Supported
skeletal muscle	myocytes	Low	Supported
skin 1	Langerhans	Medium	Supported
skin 1	fibroblasts	Medium	Supported
skin 1	keratinocytes	Medium	Supported
skin 1	melanocytes	Medium	Supported
skin 2	epidermal cells	High	Supported
small intestine	glandular cells	High	Supported
smooth muscle	smooth muscle cells	Medium	Supported
soft tissue 1	chondrocytes	Low	Supported
soft tissue 1	fibroblasts	Medium	Supported
soft tissue 2	fibroblasts	Medium	Supported
soft tissue 2	peripheral nerve	Low	Supported
spleen	cells in red pulp	Medium	Supported
spleen	cells in white pulp	Medium	Supported
stomach 1	glandular cells	Medium	Supported
stomach 2	glandular cells	Medium	Supported
testis	Leydig cells	Medium	Supported
testis	peritubular cells	High	Supported
testis	preleptotene spermatocytes	High	Supported
testis	sertoli cells	Medium	Supported
testis	spermatogonia cells	High	Supported
thyroid gland	glandular cells	High	Supported
tonsil	germinal center cells	Medium	Supported
tonsil	non-germinal center cells	Medium	Supported
tonsil	squamous epithelial cells	Medium	Supported
urinary bladder	urothelial cells	High	Supported
vagina	squamous epithelial cells	High	Supported

Disease

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
rubinstein-taybi syndrome due to crebbp mutations	MONDO:0008393	Q87	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:180849	Orphanet:353277
menke-hennekam syndrome 1	MONDO:0020763	Q87	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:618332

Summary of Q92793

Gene: CREBBP, CBP
Protein: CREB-binding protein

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Summary of Q92793

Gene: CREBBP, CBP Protein: CREB-binding protein

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Gene: CREBBP, CBP
Protein: CREB-binding protein