MultifacetedProtDB - Bologna Biocomputing Group

Structure

PDB	Resolution (Å)	PDB name
1PB5		NMR Structure of a Prototype LNR Module from Human Notch1
1TOZ		NMR structure of the human NOTCH-1 ligand binding region
1YYH	1.901	Crystal structure of the human Notch 1 ankyrin domain
2F8X	3.25	Crystal structure of activated Notch, CSL and MAML on HES-1 promoter DNA sequence
2F8Y	1.55	Crystal structure of human Notch1 ankyrin repeats to 1.55A resolution.
2HE0	1.9	Crystal structure of a human Notch1 ankyrin domain mutant
2VJ3	2.6	Human Notch-1 EGFs 11-13
3ETO	2.0	2 Angstrom Xray structure of the NOTCH1 Negative Regulatory Region (NRR)
3I08	3.2	Crystal structure of the S1-cleaved Notch1 Negative Regulatory Region (NRR)
3L95	2.19	Crystal structure of the human Notch1 Negative Regulatory Region (NRR) bound to the fab fragment of an antagonist antibody
3NBN	3.45	Crystal structure of a dimer of Notch Transcription Complex trimers on HES1 DNA
3V79	3.85	Structure of human Notch1 transcription complex including CSL, RAM, ANK, and MAML-1 on HES-1 promoter DNA sequence
4CUD	1.85	Human Notch1 EGF domains 11-13 mutant fucosylated at T466
4CUE	3.0	Human Notch1 EGF domains 11-13 mutant T466V
4CUF	2.29	Human Notch1 EGF domains 11-13 mutant T466S
4D0E	1.61	Human Notch1 EGF domains 11-13 mutant GlcNAc-fucose disaccharide modified at T466
4D0F	2.8	Human Notch1 EGF domains 11-13 mutant T466A
5FM9	2.92	human Notch 1, EGF 4-7
5FMA	2.46	human Notch 1, EGF 4-7
5KZO		Notch1 transmembrane and associated juxtamembrane segment
5L0R	1.5	human POGLUT1 in complex with Notch1 EGF12 and UDP
5UB5	2.089	human POGLUT1 in complex with human Notch1 EGF12 S458T mutant and UDP
6IDF	2.7	Cryo-EM structure of gamma secretase in complex with a Notch fragment
6PY8	3.75	Crystal structure of the RBPJ-NOTCH1-NRARP ternary complex bound to DNA

GO term

GO ontology	GO term	GO description
Biological Process	GO:0031069	hair follicle morphogenesis
Biological Process	GO:0060271	cilium assembly
Biological Process	GO:0045944	positive regulation of transcription by RNA polymerase II
Biological Process	GO:0010832	negative regulation of myotube differentiation
Biological Process	GO:0060740	prostate gland epithelium morphogenesis
Biological Process	GO:0003270	Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation
Biological Process	GO:0007492	endoderm development
Biological Process	GO:0035148	tube formation
Biological Process	GO:0003162	atrioventricular node development
Biological Process	GO:0045747	positive regulation of Notch signaling pathway
Biological Process	GO:0003203	endocardial cushion morphogenesis
Biological Process	GO:0003160	endocardium morphogenesis
Biological Process	GO:0050673	epithelial cell proliferation
Biological Process	GO:0007440	foregut morphogenesis
Biological Process	GO:0070168	negative regulation of biomineral tissue development
Biological Process	GO:0070986	left/right axis specification
Biological Process	GO:0008284	positive regulation of cell population proliferation
Biological Process	GO:0060979	vasculogenesis involved in coronary vascular morphogenesis
Biological Process	GO:0061101	neuroendocrine cell differentiation
Biological Process	GO:0007507	heart development
Biological Process	GO:0035924	cellular response to vascular endothelial growth factor stimulus
Biological Process	GO:0006955	immune response
Biological Process	GO:0046533	negative regulation of photoreceptor cell differentiation
Biological Process	GO:0061384	heart trabecula morphogenesis
Biological Process	GO:0009912	auditory receptor cell fate commitment
Biological Process	GO:1902339	positive regulation of apoptotic process involved in morphogenesis
Biological Process	GO:0060411	cardiac septum morphogenesis
Biological Process	GO:0090051	negative regulation of cell migration involved in sprouting angiogenesis
Biological Process	GO:0072538	T-helper 17 type immune response
Biological Process	GO:2001027	negative regulation of endothelial cell chemotaxis
Biological Process	GO:0007368	determination of left/right symmetry
Biological Process	GO:0007386	compartment pattern specification
Biological Process	GO:0060528	secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development
Biological Process	GO:1901201	regulation of extracellular matrix assembly
Biological Process	GO:0003219	cardiac right ventricle formation
Biological Process	GO:0003214	cardiac left ventricle morphogenesis
Biological Process	GO:0009957	epidermal cell fate specification
Biological Process	GO:0072017	distal tubule development
Biological Process	GO:0035116	embryonic hindlimb morphogenesis
Biological Process	GO:0060843	venous endothelial cell differentiation
Biological Process	GO:0003273	cell migration involved in endocardial cushion formation
Biological Process	GO:0048103	somatic stem cell division
Biological Process	GO:0060842	arterial endothelial cell differentiation
Biological Process	GO:0050768	negative regulation of neurogenesis
Biological Process	GO:0001889	liver development
Biological Process	GO:0060253	negative regulation of glial cell proliferation
Biological Process	GO:0060948	cardiac vascular smooth muscle cell development
Biological Process	GO:2000737	negative regulation of stem cell differentiation
Biological Process	GO:0006366	transcription by RNA polymerase II
Biological Process	GO:0006355	regulation of DNA-templated transcription
Biological Process	GO:0055008	cardiac muscle tissue morphogenesis
Biological Process	GO:0007283	spermatogenesis
Biological Process	GO:0060379	cardiac muscle cell myoblast differentiation
Biological Process	GO:0061314	Notch signaling involved in heart development
Biological Process	GO:0030279	negative regulation of ossification
Biological Process	GO:0010812	negative regulation of cell-substrate adhesion
Biological Process	GO:0035914	skeletal muscle cell differentiation
Biological Process	GO:0030335	positive regulation of cell migration
Biological Process	GO:0006357	regulation of transcription by RNA polymerase II
Biological Process	GO:0045955	negative regulation of calcium ion-dependent exocytosis
Biological Process	GO:0048711	positive regulation of astrocyte differentiation
Biological Process	GO:0050679	positive regulation of epithelial cell proliferation
Biological Process	GO:0097400	interleukin-17-mediated signaling pathway
Biological Process	GO:0031960	response to corticosteroid
Biological Process	GO:0045608	negative regulation of inner ear auditory receptor cell differentiation
Biological Process	GO:0060982	coronary artery morphogenesis
Biological Process	GO:0032496	response to lipopolysaccharide
Biological Process	GO:0072148	epithelial cell fate commitment
Biological Process	GO:0003180	aortic valve morphogenesis
Biological Process	GO:0060412	ventricular septum morphogenesis
Biological Process	GO:0120163	negative regulation of cold-induced thermogenesis
Biological Process	GO:0003252	negative regulation of cell proliferation involved in heart valve morphogenesis
Biological Process	GO:0003182	coronary sinus valve morphogenesis
Biological Process	GO:0003151	outflow tract morphogenesis
Biological Process	GO:0010614	negative regulation of cardiac muscle hypertrophy
Biological Process	GO:0010628	positive regulation of gene expression
Biological Process	GO:0046579	positive regulation of Ras protein signal transduction
Biological Process	GO:0003209	cardiac atrium morphogenesis
Biological Process	GO:0031100	animal organ regeneration
Biological Process	GO:0030513	positive regulation of BMP signaling pathway
Biological Process	GO:0003222	ventricular trabecula myocardium morphogenesis
Biological Process	GO:0060354	negative regulation of cell adhesion molecule production
Biological Process	GO:0001554	luteolysis
Biological Process	GO:0030163	protein catabolic process
Biological Process	GO:0072044	collecting duct development
Biological Process	GO:0003181	atrioventricular valve morphogenesis
Biological Process	GO:1903849	positive regulation of aorta morphogenesis
Biological Process	GO:0003208	cardiac ventricle morphogenesis
Biological Process	GO:0002040	sprouting angiogenesis
Biological Process	GO:0043086	negative regulation of catalytic activity
Biological Process	GO:0003213	cardiac right atrium morphogenesis
Biological Process	GO:0060768	regulation of epithelial cell proliferation involved in prostate gland development
Biological Process	GO:0003241	growth involved in heart morphogenesis
Biological Process	GO:0017156	calcium-ion regulated exocytosis
Biological Process	GO:0003332	negative regulation of extracellular matrix constituent secretion
Biological Process	GO:0000122	negative regulation of transcription by RNA polymerase II
Biological Process	GO:0042670	retinal cone cell differentiation
Biological Process	GO:0003344	pericardium morphogenesis
Biological Process	GO:0048873	homeostasis of number of cells within a tissue
Biological Process	GO:0008285	negative regulation of cell population proliferation
Biological Process	GO:0032966	negative regulation of collagen biosynthetic process
Biological Process	GO:0003192	mitral valve formation
Biological Process	GO:0030216	keratinocyte differentiation
Biological Process	GO:0006959	humoral immune response
Biological Process	GO:0045618	positive regulation of keratinocyte differentiation
Biological Process	GO:0070374	positive regulation of ERK1 and ERK2 cascade
Biological Process	GO:0021515	cell differentiation in spinal cord
Biological Process	GO:0071456	cellular response to hypoxia
Biological Process	GO:2000974	negative regulation of pro-B cell differentiation
Biological Process	GO:2000811	negative regulation of anoikis
Biological Process	GO:0003157	endocardium development
Biological Process	GO:0072091	regulation of stem cell proliferation
Biological Process	GO:2000048	negative regulation of cell-cell adhesion mediated by cadherin
Biological Process	GO:0072144	glomerular mesangial cell development
Biological Process	GO:0007221	positive regulation of transcription of Notch receptor target
Biological Process	GO:0045668	negative regulation of osteoblast differentiation
Biological Process	GO:0006606	protein import into nucleus
Biological Process	GO:0003207	cardiac chamber formation
Biological Process	GO:1902263	apoptotic process involved in embryonic digit morphogenesis
Biological Process	GO:0045070	positive regulation of viral genome replication
Biological Process	GO:0071228	cellular response to tumor cell
Biological Process	GO:0060045	positive regulation of cardiac muscle cell proliferation
Biological Process	GO:0030324	lung development
Biological Process	GO:0002085	inhibition of neuroepithelial cell differentiation
Biological Process	GO:0002052	positive regulation of neuroblast proliferation
Biological Process	GO:0030514	negative regulation of BMP signaling pathway
Biological Process	GO:0042246	tissue regeneration
Biological Process	GO:0003198	epithelial to mesenchymal transition involved in endocardial cushion formation
Biological Process	GO:0010629	negative regulation of gene expression
Biological Process	GO:0003169	coronary vein morphogenesis
Biological Process	GO:0007411	axon guidance
Biological Process	GO:0050680	negative regulation of epithelial cell proliferation
Biological Process	GO:0045603	positive regulation of endothelial cell differentiation
Biological Process	GO:0045892	negative regulation of DNA-templated transcription
Biological Process	GO:0003184	pulmonary valve morphogenesis
Biological Process	GO:0021915	neural tube development
Biological Process	GO:0045662	negative regulation of myoblast differentiation
Biological Process	GO:0001701	in utero embryonic development
Biological Process	GO:0048708	astrocyte differentiation
Biological Process	GO:0048754	branching morphogenesis of an epithelial tube
Biological Process	GO:0007219	Notch signaling pathway
Biological Process	GO:0030900	forebrain development
Biological Process	GO:0014031	mesenchymal cell development
Biological Process	GO:0090090	negative regulation of canonical Wnt signaling pathway
Biological Process	GO:0002437	inflammatory response to antigenic stimulus
Biological Process	GO:0032495	response to muramyl dipeptide
Biological Process	GO:0046427	positive regulation of receptor signaling pathway via JAK-STAT
Biological Process	GO:0060956	endocardial cell differentiation
Biological Process	GO:0097150	neuronal stem cell population maintenance
Biological Process	GO:0014807	regulation of somitogenesis
Biological Process	GO:0048709	oligodendrocyte differentiation
Biological Process	GO:0060317	cardiac epithelial to mesenchymal transition
Biological Process	GO:0001837	epithelial to mesenchymal transition
Biological Process	GO:0071372	cellular response to follicle-stimulating hormone stimulus
Biological Process	GO:0062043	positive regulation of cardiac epithelial to mesenchymal transition
Biological Process	GO:0060038	cardiac muscle cell proliferation
Biological Process	GO:0045893	positive regulation of DNA-templated transcription
Biological Process	GO:0048715	negative regulation of oligodendrocyte differentiation
Biological Process	GO:0001947	heart looping
Molecular Function	GO:0005112	Notch binding
Molecular Function	GO:0005509	calcium ion binding
Molecular Function	GO:0031490	chromatin DNA binding
Molecular Function	GO:0019899	enzyme binding
Molecular Function	GO:0004857	enzyme inhibitor activity
Molecular Function	GO:0042802	identical protein binding
Molecular Function	GO:0003713	transcription coactivator activity
Molecular Function	GO:0140537	transcription regulator activator activity
Molecular Function	GO:0004888	transmembrane signaling receptor activity
Cellular Component	GO:0000139	Golgi membrane
Cellular Component	GO:0002193	MAML1-RBP-Jkappa- ICN1 complex
Cellular Component	GO:0001669	acrosomal vesicle
Cellular Component	GO:0005912	adherens junction
Cellular Component	GO:0016324	apical plasma membrane
Cellular Component	GO:0009986	cell surface
Cellular Component	GO:0005829	cytosol
Cellular Component	GO:0005789	endoplasmic reticulum membrane
Cellular Component	GO:0005576	extracellular region
Cellular Component	GO:0005654	nucleoplasm
Cellular Component	GO:0005634	nucleus
Cellular Component	GO:0005886	plasma membrane
Cellular Component	GO:0043235	receptor complex

InterPro / Pfam

InterPro	InterPro name
IPR000152	EGF-type aspartate/asparagine hydroxylation site
IPR000742	EGF-like domain
IPR000800	Notch domain
IPR001881	EGF-like calcium-binding domain
IPR002110	Ankyrin repeat
IPR008297	Notch
IPR009030	Growth factor receptor cysteine-rich domain superfamily
IPR010660	Notch, NOD domain
IPR011656	Notch, NODP domain
IPR013032	EGF-like, conserved site
IPR018097	EGF-like calcium-binding, conserved site
IPR022362	Neurogenic locus notch homolog protein 1
IPR024600	Notch, C-terminal
IPR035993	Notch-like domain superfamily
IPR036770	Ankyrin repeat-containing domain superfamily

Pfam	Pfam name
PF00008	EGF-like domain
PF00066	LNR domain
PF06816	NOTCH protein
PF07645	Calcium-binding EGF domain
PF07684	NOTCH protein
PF12661	Human growth factor-like EGF
PF12796	Ankyrin repeats (3 copies)

Reactome

Reactome	Reactome Name	Node type	Reactome Root	Reactome Root Name
R-HSA-1912399	Pre-NOTCH Processing in the Endoplasmic Reticulum	Leaf	R-HSA-162582	Signal Transduction
R-HSA-1912408	Pre-NOTCH Transcription and Translation	Leaf	R-HSA-162582	Signal Transduction
R-HSA-1912420	Pre-NOTCH Processing in Golgi	Leaf	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-2122948	Activated NOTCH1 Transmits Signal to the Nucleus	Leaf	R-HSA-162582	Signal Transduction
R-HSA-2644606	Constitutive Signaling by NOTCH1 PEST Domain Mutants	Leaf	R-HSA-1643685	Disease
R-HSA-2644607	Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling	Leaf	R-HSA-1643685	Disease
R-HSA-2660826	Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant	Leaf	R-HSA-1643685	Disease
R-HSA-2691232	Constitutive Signaling by NOTCH1 HD 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-350054	Notch-HLH transcription pathway	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-5083630	Defective LFNG causes SCDO3	Leaf	R-HSA-1643685	Disease
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-9793380	Formation of paraxial mesoderm	Internal node	R-HSA-1266738	Developmental Biology
R-HSA-9818749	Regulation of NFE2L2 gene expression	Leaf	R-HSA-8953897	Cellular responses to stimuli

Subcellular location

Location	ECO term	Pubmed
Cell membrane	ECO:0000250	PubMed:30598546
Nucleus	ECO:0000250

Interactor | Variant | Drug

Phenotype

HPO ID	HPO name
HP:0000006	Autosomal dominant inheritance
HP:0000023	Inguinal hernia
HP:0000238	Hydrocephalus
HP:0000486	Strabismus
HP:0000518	Cataract
HP:0000568	Microphthalmia
HP:0000822	Hypertension
HP:0000965	Cutis marmorata
HP:0001048	Cavernous hemangioma
HP:0001057	Aplasia cutis congenita
HP:0001156	Brachydactyly
HP:0001159	Syndactyly
HP:0001171	Split hand
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001269	Hemiparesis
HP:0001276	Hypertonia
HP:0001362	Calvarial skull defect
HP:0001394	Cirrhosis
HP:0001409	Portal hypertension
HP:0001508	Failure to thrive
HP:0001537	Umbilical hernia
HP:0001541	Ascites
HP:0001596	Alopecia
HP:0001622	Premature birth
HP:0001629	Ventricular septal defect
HP:0001636	Tetralogy of Fallot
HP:0001641	Abnormal pulmonary valve morphology
HP:0001642	Pulmonic stenosis
HP:0001647	Bicuspid aortic valve
HP:0001650	Aortic valve stenosis
HP:0001655	Patent foramen ovale
HP:0001659	Aortic regurgitation
HP:0001667	Right ventricular hypertrophy
HP:0001680	Coarctation of aorta
HP:0001718	Mitral stenosis
HP:0001719	Double outlet right ventricle
HP:0001744	Splenomegaly
HP:0001800	Hypoplastic toenails
HP:0001802	Absent toenail
HP:0001804	Hypoplastic fingernail
HP:0001810	Dystrophic toenail
HP:0001817	Absent fingernail
HP:0001873	Thrombocytopenia
HP:0001882	Leukopenia
HP:0001883	Talipes
HP:0001971	Hypersplenism
HP:0002040	Esophageal varix
HP:0002084	Encephalocele
HP:0002092	Pulmonary arterial hypertension
HP:0002132	Porencephalic cyst
HP:0002239	Gastrointestinal hemorrhage
HP:0002353	EEG abnormality
HP:0002612	Congenital hepatic fibrosis
HP:0002814	Abnormality of the lower limb
HP:0002817	Abnormality of the upper limb
HP:0003577	Congenital onset
HP:0004050	Absent hand
HP:0004380	Aortic valve calcification
HP:0004383	Hypoplastic left heart
HP:0004933	Ascending aortic dissection
HP:0004935	Pulmonary artery atresia
HP:0004962	Thoracic aorta calcification
HP:0005113	Aortic arch aneurysm
HP:0005916	Abnormal metacarpal morphology
HP:0006101	Finger syndactyly
HP:0006970	Periventricular leukomalacia
HP:0008065	Aplasia/Hypoplasia of the skin
HP:0008070	Sparse hair
HP:0009882	Short distal phalanx of finger
HP:0010624	Aplastic/hypoplastic toenail
HP:0010760	Absent toe
HP:0011103	Abnormal left ventricular outflow tract morphology
HP:0011560	Mitral atresia
HP:0025107	Cutis marmorata telangiectatica congenita
HP:0030148	Heart murmur
HP:0030242	Portal vein thrombosis
HP:0030718	Right atrial enlargement
HP:0100026	Arteriovenous malformation

Tissue and cell type

Tissue	Cell type	Expression level	Reliability
adipose tissue	adipocytes	Medium	Supported
adrenal gland	glandular cells	High	Supported
appendix	endocrine cells	High	Supported
appendix	enterocytes	High	Supported
appendix	enterocytes - Microvilli	Medium	Supported
appendix	germinal center cells	Low	Supported
bone marrow	hematopoietic cells	Medium	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	Medium	Supported
cerebellum	Bergmann glia - cytoplasm/membrane	High	Supported
cerebellum	granular cells - cytoplasm/membrane	Low	Supported
cerebellum	molecular layer - neuropil	Low	Supported
cerebellum	molecular layer cells - cytoplasm/membrane	Medium	Supported
cerebellum	white matter cells - cytoplasm/membrane	Medium	Supported
cerebral cortex	endothelial cells	Low	Supported
cerebral cortex	glial cells	Low	Supported
cerebral cortex	neuronal cells	Medium	Supported
cerebral cortex	neuropil	Low	Supported
cervix	glandular cells	Low	Supported
cervix	squamous epithelial cells	Medium	Supported
colon	endocrine cells	Medium	Supported
colon	endothelial cells	Medium	Supported
colon	enterocytes	Medium	Supported
colon	enterocytes - Microvilli	Medium	Supported
colon	fibroblasts	High	Supported
colon	mucosal lymphoid cells	Medium	Supported
colon	peripheral nerve/ganglion	Low	Supported
duodenum	endocrine cells	Medium	Supported
duodenum	enterocytes	Medium	Supported
duodenum	enterocytes - Microvilli	Medium	Supported
duodenum	glands of Brunner	Medium	Supported
duodenum	goblet cells	Medium	Supported
endometrium 1	cells in endometrial stroma	Low	Supported
endometrium 1	glandular cells	Medium	Supported
endometrium 2	cells in endometrial stroma	Low	Supported
endometrium 2	glandular cells	Low	Supported
epididymis	glandular cells	Medium	Supported
esophagus	squamous epithelial cells	Medium	Supported
fallopian tube	glandular cells	Medium	Supported
gallbladder	glandular cells	High	Supported
heart muscle	cardiomyocytes	Medium	Supported
hippocampus	glial cells	Medium	Supported
hippocampus	neuronal cells	Low	Supported
kidney	cells in glomeruli	Medium	Supported
kidney	cells in tubules	Medium	Supported
liver	cholangiocytes	Low	Supported
liver	hepatocytes	Medium	Supported
lung	alveolar cells type I	Medium	Supported
lung	alveolar cells type II	Medium	Supported
lung	macrophages	Low	Supported
lymph node	non-germinal center cells	Medium	Supported
nasopharynx	respiratory epithelial cells	Medium	Supported
oral mucosa	squamous epithelial cells	Medium	Supported
pancreas	exocrine glandular cells	Medium	Supported
parathyroid gland	glandular cells	Medium	Supported
placenta	decidual cells	Medium	Supported
placenta	trophoblastic cells	Low	Supported
prostate	glandular cells	Medium	Supported
rectum	endocrine cells	Low	Supported
rectum	endothelial cells	Low	Supported
rectum	enterocytes	High	Supported
rectum	enterocytes - Microvilli	Medium	Supported
rectum	fibroblasts	High	Supported
rectum	goblet cells	Low	Supported
rectum	mucosal lymphoid cells	Medium	Supported
salivary gland	glandular cells	Medium	Supported
seminal vesicle	glandular cells	Medium	Supported
skeletal muscle	myocytes	Medium	Supported
skin 1	Langerhans	Medium	Supported
skin 1	fibroblasts	Medium	Supported
skin 1	keratinocytes	Medium	Supported
skin 1	melanocytes	Low	Supported
skin 2	epidermal cells	Medium	Supported
small intestine	endocrine cells	Medium	Supported
small intestine	enterocytes	Medium	Supported
small intestine	enterocytes - Microvilli	Medium	Supported
smooth muscle	smooth muscle cells	Medium	Supported
soft tissue 1	fibroblasts	Low	Supported
soft tissue 2	fibroblasts	Medium	Supported
soft tissue 2	peripheral nerve	Medium	Supported
spleen	cells in red pulp	Medium	Supported
spleen	cells in white pulp	Low	Supported
stomach 1	glandular cells	High	Supported
stomach 2	glandular cells	High	Supported
testis	Leydig cells	Medium	Supported
testis	elongated or late spermatids	Medium	Supported
testis	pachytene spermatocytes	Medium	Supported
testis	preleptotene spermatocytes	Medium	Supported
testis	round or early spermatids	Medium	Supported
testis	sertoli cells	Low	Supported
testis	spermatogonia cells	High	Supported
thyroid gland	glandular cells	Medium	Supported
tonsil	squamous epithelial cells	Medium	Supported
urinary bladder	urothelial cells	Medium	Supported
vagina	squamous epithelial cells	Medium	Supported

Disease

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
connective tissue disorder	MONDO:0003900	M35	chapter13, Diseases of the musculoskeletal system and connective tissue
adenoid cystic carcinoma	MONDO:0004971	D00	chapter2, Neoplasms
tetralogy of fallot	MONDO:0008542	Q21	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:187500	Orphanet:3303
heart- malformation of	MONDO:0009327	-	-	OMIM:140500
heart- malformation of	MONDO:0009327	-	-	OMIM:234750
adams-oliver syndrome 5	MONDO:0014459	Q87	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:616028
aortic valve disease 1	MONDO:0024523	Q23	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:109730

Summary of P46531

Gene: NOTCH1, TAN1
Protein: Neurogenic locus notch homolog protein 1

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Summary of P46531

Gene: NOTCH1, TAN1 Protein: Neurogenic locus notch homolog protein 1

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Gene: NOTCH1, TAN1
Protein: Neurogenic locus notch homolog protein 1