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
1L3E		NMR Structures of the HIF-1alpha CTAD/p300 CH1 Complex
1P4Q		Solution structure of the CITED2 transactivation domain in complex with the p300 CH1 domain
2K8F		Structural Basis for the Regulation of p53 Function by p300
2MH0		Solution NMR structure of the p300 Taz2:ETAD1 complex
2MZD		Characterization of the p300 Taz2-p53 TAD2 Complex and Comparison with the p300 Taz2-p53 TAD1 Complex
3BIY	1.7	Crystal structure of p300 histone acetyltransferase domain in complex with a bisubstrate inhibitor, Lys-CoA
3I3J	2.33	Crystal Structure of the Bromodomain of Human EP300
3IO2	2.5	Crystal structure of the Taz2 domain of p300
3P57	2.1921	Crystal structure of the p300 TAZ2 domain bound to MEF2 on DNA
3T92	1.5	Crystal structure of the Taz2:C/EBPepsilon-TAD chimera protein
4BHW	2.799	Structural basis for autoinhibition of the acetyltransferase activity of p300
4PZR	2.099	Crystal structure of p300 histone acetyltransferase domain in complex with Coenzyme A
4PZS	1.94	Crystal structure of p300 histone acetyltransferase domain in complex with Acetyl-Coenzyme A
4PZT	2.8	Crystal structure of p300 histone acetyltransferase domain in complex with an inhibitor, Acetonyl-Coenzyme A
5BT3	1.05	Crystal structure of EP300 bromodomain in complex with SGC-CBP30 chemical probe
5KJ2	1.95	The novel p300/CBP inhibitor A-485 uncovers a unique mechanism of action to target AR in castrate resistant prostate cancer
5LKT	2.04	Crystal structure of the p300 acetyltransferase catalytic core with butyryl-coenzyme A.
5LKU	3.5	Crystal structure of the p300 acetyltransferase catalytic core with coenzyme A.
5LKX	2.52	Crystal structure of the p300 acetyltransferase catalytic core with propionyl-coenzyme A.
5LKZ	2.5	Crystal structure of the p300 acetyltransferase catalytic core with crotonyl-coenzyme A.
5LPK	2.1	Crystal structure of the bromodomain of human EP300 bound to the inhibitor XDM1
5LPM	1.5	Crystal structure of the bromodomain of human Ep300 bound to the inhibitor XDM3d
5NU5	1.6	Crystal structure of the human bromodomain of EP300 bound to the inhibitor XDM-CBP
5XZC	10.7	Cryo-EM structure of p300-p53 protein complex
6DS6	1.95	Crystal structure of p300 ZZ domain in complex with histone H3 peptide
6FGN		Solution Structure of p300Taz2-p63TA
6FGS		Solution structure of p300Taz2-p73TA1
6GYR	3.1	Transcription factor dimerization activates the p300 acetyltransferase
6GYT	2.5	Transcription factor dimerization activates the p300 acetyltransferase
6K4N	9.8	Cryo-EM structure of p300
6PF1	2.32	Crystal structure of the p300 acetyltransferase domain with allosteric inhibitor CPI-090 and CoA
6PGU	1.72	Crystal structure of the p300 acetyltransferase domain with allosteric inhibitor CPI-076 and CoA
6V8B	3.13	Crystal structure of the p300 acetyltransferase domain with AcCoA competitive inhibitor 1
6V8K	1.84	Crystal structure of the p300 acetyltransferase domain with peptide-competitive inhibitor 2
6V8N	2.3	Crystal structure of the p300 acetyltransferase domain with AcCoA competitive inhibitor 17
6V90	2.04	Crystal structure of the p300 acetyltransferase domain with AcCoA competitive inhibitor 12
7LJE	2.607	Discovery of Spirohydantoins as Selective, Orally Bioavailable Inhibitors of p300/CBP Histone Acetyltransferases
7QGS	2.0	Crystal structure of p300 CH1 domain in complex with CITIF (a CITED2-HIF-1alpha hybrid)
7SS8	2.15	Human P300 complexed with a proline-based inhibitor
7SSK	2.36	Human P300 complexed with a glycine-based inhibitor
7SZQ	2.8	Human P300 complexed with an azaindazole inhibitor
7VHY	2.3	Crystal structure of EP300 HAT domain in complex with compound (+)-3
7VHZ	2.0	Crystal structure of EP300 HAT domain in complex with compound 7
7VI0	2.1	Crystal structure of EP300 HAT domain in complex with compound 11
7W9V	3.95	Cryo-EM structure of nucleosome in complex with p300 acetyltransferase catalytic core (complex I)
8GZC	2.0	Crystal structure of EP300 HAT domain in complex with compound 10

GO term

GO ontology	GO term	GO description
Biological Process	GO:0030183	B cell differentiation
Biological Process	GO:0018076	N-terminal peptidyl-lysine acetylation
Biological Process	GO:0009887	animal organ morphogenesis
Biological Process	GO:0006915	apoptotic process
Biological Process	GO:0002209	behavioral defense response
Biological Process	GO:0007049	cell cycle
Biological Process	GO:0034644	cellular response to UV
Biological Process	GO:0007623	circadian rhythm
Biological Process	GO:0060325	face morphogenesis
Biological Process	GO:0045444	fat cell differentiation
Biological Process	GO:0007507	heart development
Biological Process	GO:0016573	histone acetylation
Biological Process	GO:0018393	internal peptidyl-lysine acetylation
Biological Process	GO:0006475	internal protein amino acid acetylation
Biological Process	GO:0042771	intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator
Biological Process	GO:0007611	learning or memory
Biological Process	GO:0030324	lung development
Biological Process	GO:0010742	macrophage derived foam cell differentiation
Biological Process	GO:0035855	megakaryocyte development
Biological Process	GO:0035264	multicellular organism growth
Biological Process	GO:0045721	negative regulation of gluconeogenesis
Biological Process	GO:0031333	negative regulation of protein-containing complex assembly
Biological Process	GO:0000122	negative regulation of transcription by RNA polymerase II
Biological Process	GO:0007399	nervous system development
Biological Process	GO:0018394	peptidyl-lysine acetylation
Biological Process	GO:0140067	peptidyl-lysine butyrylation
Biological Process	GO:0140066	peptidyl-lysine crotonylation
Biological Process	GO:0061921	peptidyl-lysine propionylation
Biological Process	GO:0030220	platelet formation
Biological Process	GO:0043923	positive regulation by host of viral transcription
Biological Process	GO:0051091	positive regulation of DNA-binding transcription factor activity
Biological Process	GO:0045893	positive regulation of DNA-templated transcription
Biological Process	GO:0051092	positive regulation of NF-kappaB transcription factor activity
Biological Process	GO:1901224	positive regulation of NIK/NF-kappaB signaling
Biological Process	GO:1905636	positive regulation of RNA polymerase II regulatory region sequence-specific DNA binding
Biological Process	GO:0010976	positive regulation of neuron projection development
Biological Process	GO:0032092	positive regulation of protein binding
Biological Process	GO:0042307	positive regulation of protein import into nucleus
Biological Process	GO:0046427	positive regulation of receptor signaling pathway via JAK-STAT
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:0050821	protein stabilization
Biological Process	GO:0060765	regulation of androgen receptor signaling pathway
Biological Process	GO:0010506	regulation of autophagy
Biological Process	GO:1900034	regulation of cellular response to heat
Biological Process	GO:0006110	regulation of glycolytic process
Biological Process	GO:0010821	regulation of mitochondrion organization
Biological Process	GO:1901796	regulation of signal transduction by p53 class mediator
Biological Process	GO:0090043	regulation of tubulin deacetylation
Biological Process	GO:0043627	response to estrogen
Biological Process	GO:0001666	response to hypoxia
Biological Process	GO:0007519	skeletal muscle tissue development
Biological Process	GO:0001756	somitogenesis
Biological Process	GO:0002223	stimulatory C-type lectin receptor signaling pathway
Biological Process	GO:0036268	swimming
Biological Process	GO:0001966	thigmotaxis
Biological Process	GO:0006366	transcription by RNA polymerase II
Biological Process	GO:0045815	transcription initiation-coupled chromatin remodeling
Molecular Function	GO:0003677	DNA binding
Molecular Function	GO:0140297	DNA-binding transcription factor binding
Molecular Function	GO:0051059	NF-kappaB binding
Molecular Function	GO:0061629	RNA polymerase II-specific DNA-binding transcription factor binding
Molecular Function	GO:0097677	STAT family protein binding
Molecular Function	GO:0016407	acetyltransferase activity
Molecular Function	GO:0016746	acyltransferase activity
Molecular Function	GO:0008013	beta-catenin binding
Molecular Function	GO:0031490	chromatin DNA binding
Molecular Function	GO:0003682	chromatin binding
Molecular Function	GO:0003684	damaged DNA binding
Molecular Function	GO:0008047	enzyme activator activity
Molecular Function	GO:0004857	enzyme inhibitor activity
Molecular Function	GO:0044013	histone H2B acetyltransferase activity
Molecular Function	GO:0010484	histone H3 acetyltransferase activity
Molecular Function	GO:0140908	histone H3K122 acetyltransferase activity
Molecular Function	GO:0010485	histone H4 acetyltransferase activity
Molecular Function	GO:0004402	histone acetyltransferase activity
Molecular Function	GO:0140069	histone butyryltransferase activity
Molecular Function	GO:0140068	histone crotonyltransferase activity
Molecular Function	GO:0120301	histone lactyltransferase activity
Molecular Function	GO:0004468	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor
Molecular Function	GO:0050681	nuclear androgen receptor binding
Molecular Function	GO:0016922	nuclear receptor binding
Molecular Function	GO:0002039	p53 binding
Molecular Function	GO:0106226	peptide 2-hydroxyisobutyryltransferase activity
Molecular Function	GO:0034212	peptide N-acetyltransferase activity
Molecular Function	GO:0140065	peptide butyryltransferase activity
Molecular Function	GO:0061733	peptide-lysine-N-acetyltransferase activity
Molecular Function	GO:0097157	pre-mRNA intronic binding
Molecular Function	GO:0061920	protein propionyltransferase activity
Molecular Function	GO:0048156	tau protein binding
Molecular Function	GO:0003713	transcription coactivator activity
Molecular Function	GO:0001223	transcription coactivator binding
Molecular Function	GO:0001221	transcription coregulator binding
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:0005654	nucleoplasm
Cellular Component	GO:0005634	nucleus
Cellular Component	GO:0032993	protein-DNA complex
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-156711	Polo-like kinase mediated events	Leaf	R-HSA-1640170	Cell Cycle
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-2173796	SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-2197563	NOTCH2 intracellular domain regulates transcription	Leaf	R-HSA-162582	Signal Transduction
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-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-400253	Circadian Clock	Root	R-HSA-400253	Circadian Clock
R-HSA-5250924	B-WICH complex positively regulates rRNA expression	Leaf	R-HSA-74160	Gene expression (Transcription)
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-5689901	Metalloprotease DUBs	Leaf	R-HSA-392499	Metabolism of proteins
R-HSA-6781823	Formation of TC-NER Pre-Incision Complex	Leaf	R-HSA-73894	DNA Repair
R-HSA-6781827	Transcription-Coupled Nucleotide Excision Repair (TC-NER)	Internal node	R-HSA-73894	DNA Repair
R-HSA-6782135	Dual incision in TC-NER	Leaf	R-HSA-73894	DNA Repair
R-HSA-6782210	Gap-filling DNA repair synthesis and ligation in TC-NER	Leaf	R-HSA-73894	DNA Repair
R-HSA-6804114	TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-6804758	Regulation of TP53 Activity through Acetylation	Internal node	R-HSA-74160	Gene expression (Transcription)
R-HSA-6804760	Regulation of TP53 Activity through Methylation	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-6811555	PI5P Regulates TP53 Acetylation	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-8936459	RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-8939243	RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-8941856	RUNX3 regulates NOTCH signaling	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-8941858	Regulation of RUNX3 expression and activity	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-8951936	RUNX3 regulates p14-ARF	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-9029569	NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux	Leaf	R-HSA-162582	Signal Transduction
R-HSA-9031628	NGF-stimulated transcription	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-9616222	Transcriptional regulation of granulopoiesis	Leaf	R-HSA-1266738	Developmental Biology
R-HSA-9617629	Regulation of FOXO transcriptional activity by acetylation	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-9701898	STAT3 nuclear events downstream of ALK signaling	Leaf	R-HSA-162582	Signal Transduction
R-HSA-9707616	Heme signaling	Leaf	R-HSA-8953897	Cellular responses to stimuli
R-HSA-9735871	SARS-CoV-1 targets host intracellular signalling and regulatory pathways	Leaf	R-HSA-1643685	Disease
R-HSA-9759194	Nuclear events mediated by NFE2L2	Internal node	R-HSA-8953897	Cellular responses to stimuli
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
Chromosome	ECO:0000269	PubMed:14645221
Chromosome	ECO:0000269	PubMed:25818647
Cytoplasm	ECO:0000269	PubMed:12929931
Cytoplasm	ECO:0000269	PubMed:20940255
Nucleus	ECO:0000269	PubMed:12929931
Nucleus	ECO:0000269	PubMed:14645221
Nucleus	ECO:0000269	PubMed:16219772
Nucleus	ECO:0000269	PubMed:16574662
Nucleus	ECO:0000269	PubMed:17761950
Nucleus	ECO:0000269	PubMed:20940255
Nucleus	ECO:0000269	PubMed:25593309

Interactor | Variant | Drug

Phenotype

HPO ID	HPO name
HP:0002311	Incoordination
HP:0001347	Hyperreflexia
HP:0002414	Spina bifida
HP:0001762	Talipes equinovarus
HP:0000047	Hypospadias
HP:0001601	Laryngomalacia
HP:0008897	Postnatal growth retardation
HP:0005280	Depressed nasal bridge
HP:0002664	Neoplasm
HP:0005484	Secondary microcephaly
HP:0000518	Cataract
HP:0000494	Downslanted palpebral fissures
HP:0002098	Respiratory distress
HP:0031251	Abnormal subclavian artery morphology
HP:0001999	Abnormal facial shape
HP:0002002	Deep philtrum
HP:0002219	Facial hypertrichosis
HP:0000405	Conductive hearing impairment
HP:0000049	Shawl scrotum
HP:0002750	Delayed skeletal maturation
HP:0000219	Thin upper lip vermilion
HP:0000446	Narrow nasal bridge
HP:0000218	High palate
HP:0011917	Short 5th toe
HP:0001561	Polyhydramnios
HP:0000520	Proptosis
HP:0000347	Micrognathia
HP:0012758	Neurodevelopmental delay
HP:0000175	Cleft palate
HP:0025269	Panic attack
HP:0031546	Cardiac conduction abnormality
HP:0000582	Upslanted palpebral fissure
HP:0001763	Pes planus
HP:0001747	Accessory spleen
HP:0011304	Broad thumb
HP:0011470	Nasogastric tube feeding in infancy
HP:0000722	Compulsive behaviors
HP:0001428	Somatic mutation
HP:0410263	Brain imaging abnormality
HP:0000369	Low-set ears
HP:0002205	Recurrent respiratory infections
HP:0008752	Laryngeal cartilage malformation
HP:0010314	Premature thelarche
HP:0031207	Hepatic hemangioma
HP:0001212	Prominent fingertip pads
HP:0000717	Autism
HP:0003593	Infantile onset
HP:0001627	Abnormal heart morphology
HP:0000010	Recurrent urinary tract infections
HP:0000932	Abnormal posterior cranial fossa morphology
HP:0005301	Persistent left superior vena cava
HP:0001634	Mitral valve prolapse
HP:0001518	Small for gestational age
HP:0002870	Obstructive sleep apnea
HP:0000729	Autistic behavior
HP:0002308	Chiari malformation
HP:0100716	Self-injurious behavior
HP:0002835	Aspiration
HP:0001956	Truncal obesity
HP:0002000	Short columella
HP:0000708	Atypical behavior
HP:0000486	Strabismus
HP:0011220	Prominent forehead
HP:0001256	Intellectual disability, mild
HP:0030047	Abnormal lateral ventricle morphology
HP:0000316	Hypertelorism
HP:0000079	Abnormality of the urinary system
HP:0000733	Abnormal repetitive mannerisms
HP:0000448	Prominent nose
HP:0001647	Bicuspid aortic valve
HP:0012368	Flat face
HP:0001845	Overlapping toe
HP:0003745	Sporadic
HP:0002553	Highly arched eyebrow
HP:0006200	Widened distal phalanges
HP:0002588	Duodenal ulcer
HP:0001508	Failure to thrive
HP:0002700	Large foramen magnum
HP:0000787	Nephrolithiasis
HP:0003319	Abnormality of the cervical spine
HP:0002019	Constipation
HP:0010059	Broad hallux phalanx
HP:0002353	EEG abnormality
HP:0000260	Wide anterior fontanel
HP:0008523	Posterior helix pit
HP:0006349	Agenesis of permanent teeth
HP:0002341	Cervical cord compression
HP:0001273	Abnormal corpus callosum morphology
HP:0000252	Microcephaly
HP:0009836	Broad distal phalanx of finger
HP:0001290	Generalized hypotonia
HP:0010621	Cutaneous syndactyly of toes
HP:0002099	Asthma
HP:0009715	Papillary cystadenoma of the epididymis
HP:0002891	Uterine leiomyosarcoma
HP:0011947	Respiratory tract infection
HP:0002183	Phonophobia
HP:0003577	Congenital onset
HP:0000689	Dental malocclusion
HP:0012448	Delayed myelination
HP:0002236	Frontal upsweep of hair
HP:0000478	Abnormality of the eye
HP:0034227	Aortic isthmus hypoplasia
HP:0030890	Hyperintensity of cerebral white matter on MRI
HP:0000006	Autosomal dominant inheritance
HP:0001274	Agenesis of corpus callosum
HP:0000574	Thick eyebrow
HP:0000273	Facial grimacing
HP:0002866	Hypoplastic iliac wing
HP:0000752	Hyperactivity
HP:0001852	Sandal gap
HP:0000189	Narrow palate
HP:0002858	Meningioma
HP:0002194	Delayed gross motor development
HP:0000270	Delayed cranial suture closure
HP:0000034	Hydrocele testis
HP:0000077	Abnormality of the kidney
HP:0000028	Cryptorchidism
HP:0000508	Ptosis
HP:0010674	Abnormal curvature of the vertebral column
HP:0001181	Adducted thumb
HP:0009765	Low hanging columella
HP:0000540	Hypermetropia
HP:0100852	Abnormal fear/anxiety-related behavior
HP:0005306	Capillary hemangioma
HP:0000490	Deeply set eye
HP:0002999	Patellar dislocation
HP:0011087	Talon cusp
HP:0010105	Short first metatarsal
HP:0001642	Pulmonic stenosis
HP:0000126	Hydronephrosis
HP:0000444	Convex nasal ridge
HP:0001382	Joint hypermobility
HP:0000718	Aggressive behavior
HP:0000559	Corneal scarring
HP:0001250	Seizure
HP:0000501	Glaucoma
HP:0001249	Intellectual disability
HP:0002697	Parietal foramina
HP:0000678	Dental crowding
HP:0003396	Syringomyelia
HP:0000670	Carious teeth
HP:0006753	Neoplasm of the stomach
HP:0001909	Leukemia
HP:0002007	Frontal bossing
HP:0002869	Flared iliac wing
HP:0001385	Hip dysplasia
HP:0006740	Transitional cell carcinoma of the bladder
HP:0000957	Cafe-au-lait spot
HP:0007086	Social and occupational deterioration
HP:0011229	Broad eyebrow
HP:0000319	Smooth philtrum
HP:0012450	Chronic constipation
HP:0010066	Duplication of phalanx of hallux
HP:0006297	Enamel hypoplasia
HP:0010051	Deviation of the hallux
HP:0030434	Pilomatrixoma
HP:0001263	Global developmental delay
HP:0000668	Hypodontia
HP:0000639	Nystagmus
HP:0010562	Keloids
HP:0000388	Otitis media
HP:0000321	Square face
HP:0000327	Hypoplasia of the maxilla
HP:0000278	Retrognathia
HP:0008107	Plantar crease between first and second toes
HP:0001513	Obesity
HP:0005363	Humoral immunodeficiency
HP:0005322	Prominent nasal septum
HP:0001388	Joint laxity
HP:0001252	Hypotonia
HP:0008689	Bilateral cryptorchidism
HP:0000527	Long eyelashes
HP:0000767	Pectus excavatum
HP:0001643	Patent ductus arteriosus
HP:0001371	Flexion contracture
HP:0000589	Coloboma
HP:0000076	Vesicoureteral reflux
HP:0009778	Short thumb
HP:0000119	Abnormality of the genitourinary system
HP:0031936	Delayed ability to walk
HP:0000954	Single transverse palmar crease
HP:0012745	Short palpebral fissure
HP:0011682	Perimembranous ventricular septal defect
HP:0030680	Abnormality of cardiovascular system morphology
HP:0008872	Feeding difficulties in infancy
HP:0005374	Cellular immunodeficiency
HP:0000358	Posteriorly rotated ears
HP:0002650	Scoliosis
HP:0003083	Dislocated radial head
HP:0004209	Clinodactyly of the 5th finger
HP:0011335	Frontal hirsutism
HP:0001344	Absent speech
HP:0000756	Agoraphobia
HP:0002705	High, narrow palate
HP:0001629	Ventricular septal defect
HP:0002162	Low posterior hairline
HP:0010775	Vascular ring
HP:0001655	Patent foramen ovale
HP:0010442	Polydactyly
HP:0007099	Chiari type I malformation
HP:0000407	Sensorineural hearing impairment
HP:0000712	Emotional lability
HP:0000160	Narrow mouth
HP:0002317	Unsteady gait
HP:0011968	Feeding difficulties
HP:0000581	Blepharophimosis
HP:0011094	Increased overbite
HP:0000695	Natal tooth
HP:0001128	Trichiasis
HP:0005895	Radial deviation of thumb terminal phalanx
HP:0004322	Short stature
HP:0000365	Hearing impairment
HP:0002090	Pneumonia
HP:0004411	Deviated nasal septum
HP:0009834	Abnormal proximal phalanx morphology of the hand
HP:0002020	Gastroesophageal reflux
HP:0000431	Wide nasal bridge
HP:0002370	Poor coordination
HP:0001680	Coarctation of aorta
HP:0020206	Simple ear
HP:0100710	Impulsivity
HP:0001511	Intrauterine growth retardation
HP:0000286	Epicanthus
HP:0005584	Renal cell carcinoma
HP:0004383	Hypoplastic left heart
HP:0000750	Delayed speech and language development
HP:0001650	Aortic valve stenosis
HP:0000742	Self-mutilation
HP:0006716	Hereditary nonpolyposis colorectal carcinoma
HP:0001042	High axial triradius
HP:0000736	Short attention span
HP:0003298	Spina bifida occulta
HP:0000293	Full cheeks
HP:0001159	Syndactyly
HP:0010055	Broad hallux
HP:0000579	Nasolacrimal duct obstruction
HP:0005743	Avascular necrosis of the capital femoral epiphysis
HP:0002788	Recurrent upper respiratory tract infections
HP:0001007	Hirsutism
HP:0000294	Low anterior hairline
HP:0000735	Impaired social interactions
HP:0000387	Absent earlobe
HP:0002566	Intestinal malrotation
HP:0011069	Supernumerary tooth
HP:0001631	Atrial septal defect
HP:0001510	Growth delay

Tissue and cell type

Tissue	Cell type	Expression level	Reliability
adipose tissue	adipocytes	Low	Supported
adrenal gland	glandular cells	High	Supported
appendix	glandular cells	Medium	Supported
appendix	lymphoid tissue	Medium	Supported
bone marrow	hematopoietic cells	High	Supported
breast	adipocytes	Low	Supported
breast	glandular cells	Medium	Supported
breast	myoepithelial cells	Low	Supported
bronchus	respiratory epithelial cells	Medium	Supported
caudate	glial cells	Medium	Supported
caudate	neuronal cells	Medium	Supported
cerebellum	GLUC cells - nucleus	Medium	Supported
cerebellum	granular cells - nucleus	Medium	Supported
cerebellum	molecular layer cells - nucleus	Low	Supported
cerebellum	white matter cells - nucleus	Low	Supported
cerebral cortex	endothelial cells	Low	Supported
cerebral cortex	glial cells	Low	Supported
cerebral cortex	neuronal cells	High	Supported
cervix	glandular cells	Medium	Supported
cervix	squamous epithelial cells	Medium	Supported
colon	endothelial cells	Low	Supported
colon	glandular cells	High	Supported
colon	peripheral nerve/ganglion	Medium	Supported
duodenum	glandular cells	Medium	Supported
endometrium 1	cells in endometrial stroma	Medium	Supported
endometrium 1	glandular cells	Low	Supported
endometrium 2	cells in endometrial stroma	Low	Supported
endometrium 2	glandular cells	Low	Supported
epididymis	glandular cells	Medium	Supported
esophagus	squamous epithelial cells	High	Supported
fallopian tube	glandular cells	Medium	Supported
gallbladder	glandular cells	Medium	Supported
heart muscle	cardiomyocytes	Low	Supported
hippocampus	glial cells	Medium	Supported
hippocampus	neuronal cells	Medium	Supported
kidney	cells in glomeruli	Medium	Supported
kidney	cells in tubules	Medium	Supported
liver	cholangiocytes	Medium	Supported
liver	hepatocytes	Low	Supported
lung	alveolar cells type I	High	Supported
lung	alveolar cells type II	High	Supported
lung	macrophages	Medium	Supported
lymph node	germinal center cells	Medium	Supported
lymph node	non-germinal center cells	Low	Supported
nasopharynx	respiratory epithelial cells	Medium	Supported
oral mucosa	squamous epithelial cells	Medium	Supported
ovary	ovarian stroma cells	Medium	Supported
pancreas	exocrine glandular cells	Medium	Supported
pancreas	pancreatic endocrine cells	Medium	Supported
parathyroid gland	glandular cells	High	Supported
placenta	decidual cells	High	Supported
placenta	trophoblastic 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	Low	Supported
skin 1	keratinocytes	Medium	Supported
skin 1	melanocytes	Low	Supported
skin 2	epidermal cells	High	Supported
small intestine	glandular cells	Medium	Supported
smooth muscle	smooth muscle cells	Medium	Supported
soft tissue 1	fibroblasts	Low	Supported
soft tissue 1	peripheral nerve	Low	Supported
soft tissue 2	fibroblasts	Low	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	elongated or late spermatids	High	Supported
testis	sertoli cells	Medium	Supported
thyroid gland	glandular cells	Medium	Supported
tonsil	germinal center cells	Medium	Supported
tonsil	non-germinal center cells	Medium	Supported
tonsil	squamous epithelial cells	Medium	Supported
urinary bladder	urothelial cells	Medium	Supported
vagina	squamous epithelial cells	Medium	Supported

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
squamous cell lung carcinoma	MONDO:0005097	C34	chapter2, Neoplasms
colorectal cancer	MONDO:0005575	C18	chapter2, Neoplasms	OMIM:114500	Orphanet:466667
bladder transitional cell carcinoma	MONDO:0005611	C64	chapter2, Neoplasms
bladder transitional cell carcinoma	MONDO:0005611	C67	chapter2, Neoplasms
bladder transitional cell carcinoma	MONDO:0005611	C68	chapter2, Neoplasms
medulloblastoma	MONDO:0007959	C71	chapter2, Neoplasms	OMIM:155255	Orphanet:616
rubinstein-taybi syndrome due to crebbp mutations	MONDO:0008393	Q87	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:180849	Orphanet:353277
head and neck squamous cell carcinoma	MONDO:0010150	C76	chapter2, Neoplasms	OMIM:275355	Orphanet:67037
rubinstein-taybi syndrome due to ep300 haploinsufficiency	MONDO:0013364	Q87	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:613684	Orphanet:353284
carcinoma of esophagus	MONDO:0019086	C15	chapter2, Neoplasms		Orphanet:70482
menke-hennekam syndrome 2	MONDO:0020769	Q87	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:618333
uterine cervix neoplasm	MONDO:0021230	-	-

Summary of Q09472

Gene: EP300, P300
Protein: Histone acetyltransferase p300

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Summary of Q09472

Gene: EP300, P300 Protein: Histone acetyltransferase p300

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Gene: EP300, P300
Protein: Histone acetyltransferase p300