HUMAN:NOTC1

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	NOTCH1 (synonyms: TAN1)
Protein Name(s)	Neurogenic locus notch homolog protein 1 Notch 1 hN1 Translocation-associated notch protein TAN-1 Notch 1 extracellular truncation NEXT Notch 1 intracellular domain NICD
External Links
UniProt	P46531
EMBL	AF308602 AL592301 AL354671 AL354671 AL592301 M73980 AB209873
CCDS	CCDS43905.1
PIR	A40043
RefSeq	NP_060087.3
UniGene	Hs.495473
PDB	1PB5 1TOZ 1YYH 2F8X 2F8Y 2HE0 2VJ3 3ETO 3I08 3L95 3NBN 3V79 4CUD 4CUE 4CUF 4D0E 4D0F
PDBsum	1PB5 1TOZ 1YYH 2F8X 2F8Y 2HE0 2VJ3 3ETO 3I08 3L95 3NBN 3V79 4CUD 4CUE 4CUF 4D0E 4D0F
ProteinModelPortal	P46531
SMR	P46531
BioGrid	110913
DIP	DIP-29919N
IntAct	P46531
MINT	MINT-1417018
STRING	9606.ENSP00000277541
ChEMBL	CHEMBL2146346
PhosphoSite	P46531
DMDM	206729936
MaxQB	P46531
PaxDb	P46531
PRIDE	P46531
Ensembl	ENST00000277541
GeneID	4851
KEGG	hsa:4851
UCSC	uc004chz.3
CTD	4851
GeneCards	GC09M139388
H-InvDB	HIX0008549
HGNC	HGNC:7881
HPA	CAB008112 CAB022466
MIM	109730 190198
neXtProt	NX_P46531
Orphanet	1244
PharmGKB	PA31683
eggNOG	COG0666
GeneTree	ENSGT00760000118786
HOGENOM	HOG000234369
HOVERGEN	HBG052650
InParanoid	P46531
KO	K02599
OMA	HGGYNCV
OrthoDB	EOG7992RD
PhylomeDB	P46531
TreeFam	TF351641
Reactome	REACT_118568 REACT_118614 REACT_118722 REACT_118780 REACT_118798 REACT_13673 REACT_14835 REACT_160089 REACT_160106 REACT_160243 REACT_160254 REACT_160305
SignaLink	P46531
ChiTaRS	NOTCH1
EvolutionaryTrace	P46531
GeneWiki	Notch-1
GenomeRNAi	4851
NextBio	18684
PRO	PR:P46531
Proteomes	UP000005640
Bgee	P46531
CleanEx	HS_NOTCH1
ExpressionAtlas	P46531
Genevestigator	P46531
GO	GO:0001669 GO:0009986 GO:0005829 GO:0005789 GO:0005576 GO:0000139 GO:0016021 GO:0002193 GO:0005654 GO:0005634 GO:0005886 GO:0043235 GO:0005509 GO:0031490 GO:0001047 GO:0019899 GO:0004857 GO:0004872 GO:0001190 GO:0043565 GO:0003700 GO:0003180 GO:1902263 GO:0060842 GO:0048708 GO:0003162 GO:0003181 GO:0009912 GO:0007409 GO:0048754 GO:0003209 GO:0003207 GO:0060317 GO:0003214 GO:0060038 GO:0055008 GO:0003213 GO:0003219 GO:0060411 GO:0060948 GO:0003208 GO:0021515 GO:0001708 GO:0003273 GO:0071372 GO:0035924 GO:0060271 GO:0072044 GO:0007386 GO:0060982 GO:0003169 GO:0007368 GO:0072017 GO:0035116 GO:0060956 GO:0003203 GO:0003157 GO:0003160 GO:0007492 GO:0001837 GO:0003198 GO:0030900 GO:0007440 GO:0010467 GO:0072144 GO:0003241 GO:0031069 GO:0007507 GO:0001947 GO:0061384 GO:0006959 GO:0006955 GO:0001701 GO:0002437 GO:0072602 GO:0030216 GO:0070986 GO:0001889 GO:0030324 GO:0014031 GO:0003192 GO:2000811 GO:0030514 GO:0045955 GO:0090090 GO:0043086 GO:0090051 GO:0008285 GO:0010812 GO:2001027 GO:0060253 GO:0045662 GO:0010832 GO:0050768 GO:0048715 GO:0030279 GO:0045668 GO:0046533 GO:2000974 GO:2000737 GO:0000122 GO:0045892 GO:0021915 GO:0097150 GO:0007220 GO:0061314 GO:0007219 GO:0003270 GO:0048709 GO:0031100 GO:0003344 GO:0043065 GO:0048711 GO:0030513 GO:0060045 GO:0030335 GO:0008284 GO:0045603 GO:0050679 GO:0010718 GO:0046427 GO:0045618 GO:0002052 GO:0045944 GO:0061419 GO:0007221 GO:0045893 GO:0060740 GO:0003184 GO:0060768 GO:1901201 GO:0014807 GO:0003256 GO:0006355 GO:0031960 GO:0032496 GO:0032495 GO:0060528 GO:0035914 GO:0048103 GO:0007283 GO:0002040 GO:0042246 GO:0006367 GO:0035148 GO:0060979 GO:0060843 GO:0060412 GO:0003222
Gene3D	1.25.40.20
InterPro	IPR002110 IPR020683 IPR024600 IPR000742 IPR001881 IPR013032 IPR000152 IPR018097 IPR009030 IPR008297 IPR022362 IPR000800 IPR010660 IPR011656
PANTHER	PTHR24033:SF37
Pfam	PF00023 PF12796 PF11936 PF00008 PF07645 PF12661 PF06816 PF07684 PF00066
PIRSF	PIRSF002279
PRINTS	PR01452 PR01984
SMART	SM00248 SM00181 SM00179 SM00004
SUPFAM	SSF48403 SSF57184 SSF90193
PROSITE	PS50297 PS50088 PS00010 PS00022 PS01186 PS50026 PS01187 PS50258

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
	GO:0031953	negative regulation of protein autophosphorylation	PMID:29482073^[1]	ECO:0000314			P		Figure 1C and S1C, NOTCH1 impairs DNA-PKcs autophosphorylation (Ser2065) to a similar, although slightly lower, extent as the small molecule DNA-PKcsi.	complete CACAO 13280
involved_in	GO:0003252	negative regulation of cell proliferation involved in heart valve morphogenesis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P	occurs_in:(UBERON:0002137) part_of:(GO:0003180)	Seeded From UniProt	complete
involved_in	GO:1902339	positive regulation of apoptotic process involved in morphogenesis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P	results_in_morphogenesis_of:(UBERON:0002137) part_of:(GO:0003180) positively_regulates:(GO:0072577)	Seeded From UniProt	complete
involved_in	GO:1902339	positive regulation of apoptotic process involved in morphogenesis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P	results_in_morphogenesis_of:(UBERON:0002146) part_of:(GO:0003184) positively_regulates:(GO:0072577)	Seeded From UniProt	complete
involved_in	GO:0003332	negative regulation of extracellular matrix constituent secretion	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P	occurs_in:(UBERON:0002137) happens_during:(GO:0003180)	Seeded From UniProt	complete
involved_in	GO:0010614	negative regulation of cardiac muscle hypertrophy	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P	occurs_in:(UBERON:0002137) happens_during:(GO:0003180)	Seeded From UniProt	complete
involved_in	GO:0003252	negative regulation of cell proliferation involved in heart valve morphogenesis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P	occurs_in:(UBERON:0002146) part_of:(GO:0003184)	Seeded From UniProt	complete
involved_in	GO:0003184	pulmonary valve morphogenesis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0070168	negative regulation of biomineral tissue development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P	occurs_in:(UBERON:0002137) occurs_in:(CL:1000147) part_of:(GO:0003180)	Seeded From UniProt	complete
involved_in	GO:0010628	positive regulation of gene expression	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P	occurs_in:(UBERON:0002137) part_of:(GO:0003180) regulates_expression_of:(ENSEMBL:ENSG00000125398)	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	C	part_of:(UBERON:0002137) part_of:(CL:1000147)	Seeded From UniProt	complete
involved_in	GO:0003180	aortic valve morphogenesis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0003151	outflow tract morphogenesis	PMID:18593716^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q07008	C		Seeded From UniProt	complete
involved_in	GO:0062043	positive regulation of cardiac epithelial to mesenchymal transition	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q07008	P	occurs_in:(CL:2000008)	Seeded From UniProt	complete
involved_in	GO:0120163	negative regulation of cold-induced thermogenesis	PMID:25038826^[3]	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0003180	aortic valve morphogenesis	PMID:18593716^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0046579	positive regulation of Ras protein signal transduction	PMID:11306509^[4]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0045967	negative regulation of growth rate	PMID:11306509^[4]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0008285	negative regulation of cell population proliferation	PMID:11306509^[4]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0007050	cell cycle arrest	PMID:11306509^[4]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0010629	negative regulation of gene expression	PMID:11306509^[4]	ECO:0000314	direct assay evidence used in manual assertion		P	has_regulation_target:(UniProtKB:P50553)	Seeded From UniProt	complete
involved_in	GO:0007219	Notch signaling pathway	PMID:11306509^[4]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0070374	positive regulation of ERK1 and ERK2 cascade	PMID:11306509^[4]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0016324	apical plasma membrane	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	C		Seeded From UniProt	complete
part_of	GO:0005912	adherens junction	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	C		Seeded From UniProt	complete
involved_in	GO:0007507	heart development	PMID:21457232^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:2000811	negative regulation of anoikis	PMID:17984306^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:1901201	regulation of extracellular matrix assembly	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0071372	cellular response to follicle-stimulating hormone stimulus	PMID:20613903^[7]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0061384	heart trabecula morphogenesis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0061314	Notch signaling involved in heart development	PMID:17662764^[8]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0061314	Notch signaling involved in heart development	PMID:16025100^[9]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0060982	coronary artery morphogenesis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0060979	vasculogenesis involved in coronary vascular morphogenesis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0060956	endocardial cell differentiation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0060948	cardiac vascular smooth muscle cell development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0060843	venous endothelial cell differentiation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0060842	arterial endothelial cell differentiation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0060412	ventricular septum morphogenesis	PMID:16025100^[9]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0060411	cardiac septum morphogenesis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0060317	cardiac epithelial to mesenchymal transition	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0060045	positive regulation of cardiac muscle cell proliferation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0055008	cardiac muscle tissue morphogenesis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0045944	positive regulation of transcription by RNA polymerase II	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0045892	negative regulation of transcription, DNA-templated	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:A0MZ89	P		Seeded From UniProt	complete
involved_in	GO:0045892	negative regulation of transcription, DNA-templated	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0045668	negative regulation of osteoblast differentiation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:A0MZ89	P		Seeded From UniProt	complete
involved_in	GO:0045668	negative regulation of osteoblast differentiation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0030514	negative regulation of BMP signaling pathway	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:A0MZ89	P		Seeded From UniProt	complete
involved_in	GO:0030514	negative regulation of BMP signaling pathway	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0030335	positive regulation of cell migration	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0030279	negative regulation of ossification	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0014031	mesenchymal cell development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0010812	negative regulation of cell-substrate adhesion	PMID:16501043^[10]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0010718	positive regulation of epithelial to mesenchymal transition	PMID:17984306^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0008284	positive regulation of cell population proliferation	PMID:20613903^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0007368	determination of left/right symmetry	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0007221	positive regulation of transcription of Notch receptor target	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	C		Seeded From UniProt	complete
involved_in	GO:0003344	pericardium morphogenesis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0003273	cell migration involved in endocardial cushion formation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0003256	regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0003241	growth involved in heart morphogenesis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0003222	ventricular trabecula myocardium morphogenesis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0003214	cardiac left ventricle morphogenesis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0003213	cardiac right atrium morphogenesis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0003209	cardiac atrium morphogenesis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0003208	cardiac ventricle morphogenesis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0003207	cardiac chamber formation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0003203	endocardial cushion morphogenesis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0003198	epithelial to mesenchymal transition involved in endocardial cushion formation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0003192	mitral valve formation	PMID:16025100^[9]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0003184	pulmonary valve morphogenesis	PMID:16025100^[9]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0003181	atrioventricular valve morphogenesis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0003180	aortic valve morphogenesis	PMID:17662764^[8]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0003180	aortic valve morphogenesis	PMID:16025100^[9]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0003169	coronary vein morphogenesis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0003160	endocardium morphogenesis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0003157	endocardium development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0001947	heart looping	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0001837	epithelial to mesenchymal transition	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
enables	GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	F		Seeded From UniProt	complete
involved_in	GO:0000122	negative regulation of transcription by RNA polymerase II	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:2001027	negative regulation of endothelial cell chemotaxis	PMID:20616313^[11]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:2000974	negative regulation of pro-B cell differentiation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:2000737	negative regulation of stem cell differentiation	PMID:19682396^[12]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0097150	neuronal stem cell population maintenance	PMID:19682396^[12]	ECO:0000270	expression pattern evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0090051	negative regulation of cell migration involved in sprouting angiogenesis	PMID:20616313^[11]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0061419	positive regulation of transcription from RNA polymerase II promoter in response to hypoxia	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0060271	cilium assembly	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:A2RUV0	P		Seeded From UniProt	complete
involved_in	GO:0060253	negative regulation of glial cell proliferation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0050768	negative regulation of neurogenesis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0048715	negative regulation of oligodendrocyte differentiation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0048711	positive regulation of astrocyte differentiation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0046427	positive regulation of receptor signaling pathway via JAK-STAT	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0045944	positive regulation of transcription by RNA polymerase II	PMID:20616313^[11]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0045944	positive regulation of transcription by RNA polymerase II	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0045893	positive regulation of transcription, DNA-templated	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0045662	negative regulation of myoblast differentiation	PMID:10713164^[13]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0043086	negative regulation of catalytic activity	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0035924	cellular response to vascular endothelial growth factor stimulus	PMID:20616313^[11]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0035148	tube formation	PMID:20616313^[11]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0030513	positive regulation of BMP signaling pathway	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
enables	GO:0019899	enzyme binding	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	F		Seeded From UniProt	complete
involved_in	GO:0010832	negative regulation of myotube differentiation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
involved_in	GO:0008285	negative regulation of cell population proliferation	PMID:20616313^[11]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0008284	positive regulation of cell population proliferation	PMID:17849174^[14]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0007219	Notch signaling pathway	PMID:19682396^[12]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0006955	immune response	PMID:1831692^[15]	ECO:0000303	author statement without traceable support used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	C		Seeded From UniProt	complete
enables	GO:0004857	enzyme inhibitor activity	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	F		Seeded From UniProt	complete
part_of	GO:0002193	MAML1-RBP-Jkappa- ICN1 complex	PMID:16510869^[16]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0000978	RNA polymerase II proximal promoter sequence-specific DNA binding	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	F		Seeded From UniProt	complete
involved_in	GO:0000122	negative regulation of transcription by RNA polymerase II	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q01705	P		Seeded From UniProt	complete
part_of	GO:0043235	receptor complex	PMID:23382219^[17]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0005509	calcium ion binding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001881 InterPro:IPR018097	F		Seeded From UniProt	complete
involved_in	GO:0006355	regulation of transcription, DNA-templated	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR022362	P		Seeded From UniProt	complete
involved_in	GO:0007219	Notch signaling pathway	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR008297 InterPro:IPR011656 InterPro:IPR022362	P		Seeded From UniProt	complete
involved_in	GO:0007275	multicellular organism development	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR011656	P		Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR008297 InterPro:IPR010660 InterPro:IPR011656	C		Seeded From UniProt	complete
involved_in	GO:0030154	cell differentiation	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR008297 InterPro:IPR010660 InterPro:IPR011656	P		Seeded From UniProt	complete
enables	GO:0038023	signaling receptor activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR022362	F		Seeded From UniProt	complete
involved_in	GO:0050793	regulation of developmental process	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR008297	P		Seeded From UniProt	complete
involved_in	GO:0003180	aortic valve morphogenesis	PMID:20951801^[18]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0007219	Notch signaling pathway	PMID:10713164^[13] Reactome:R-HSA-1980143	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0006355	regulation of transcription, DNA-templated	PMID:10713164^[13]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	PMID:10713164^[13]	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	Reactome:R-HSA-2220976 Reactome:R-HSA-2220944 Reactome:R-HSA-1980122 Reactome:R-HSA-1980044 Reactome:R-HSA-1912382 Reactome:R-HSA-1912379 Reactome:R-NUL-2076711 Reactome:R-HSA-2900765 Reactome:R-HSA-2900756 Reactome:R-HSA-2900748 Reactome:R-HSA-2900747 Reactome:R-HSA-2900743 Reactome:R-HSA-2769008 Reactome:R-HSA-2769007 Reactome:R-HSA-2769000 Reactome:R-HSA-2768999 Reactome:R-HSA-2768993 Reactome:R-HSA-2737728 Reactome:R-HSA-2730752 Reactome:R-HSA-2691226 Reactome:R-HSA-2691219 Reactome:R-HSA-2691214 Reactome:R-HSA-2691211 Reactome:R-HSA-2666278 Reactome:R-HSA-2660822 Reactome:R-HSA-2660819 Reactome:R-HSA-2660816 Reactome:R-HSA-2660815 Reactome:R-HSA-2220988	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005829	cytosol	Reactome:R-HSA-2769015 Reactome:R-HSA-2220988	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005789	endoplasmic reticulum membrane	Reactome:R-HSA-1912412	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005654	nucleoplasm	Reactome:R-NUL-2064264 Reactome:R-HSA-9021451 Reactome:R-HSA-9017835 Reactome:R-HSA-8878237 Reactome:R-HSA-8878220 Reactome:R-HSA-4396402 Reactome:R-HSA-4396401 Reactome:R-HSA-4396393 Reactome:R-HSA-4396392 Reactome:R-HSA-4396379 Reactome:R-HSA-4396371 Reactome:R-HSA-2769015 Reactome:R-HSA-2220982 Reactome:R-HSA-2220978 Reactome:R-HSA-2220971 Reactome:R-HSA-2220967 Reactome:R-HSA-2220964 Reactome:R-HSA-2220957 Reactome:R-HSA-212356 Reactome:R-HSA-1912394	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005576	extracellular region	Reactome:R-NUL-2076711 Reactome:R-HSA-2900765 Reactome:R-HSA-2900756 Reactome:R-HSA-2900748 Reactome:R-HSA-2900747 Reactome:R-HSA-2900743 Reactome:R-HSA-2769008 Reactome:R-HSA-2769007 Reactome:R-HSA-2769000 Reactome:R-HSA-2768999 Reactome:R-HSA-2768993 Reactome:R-HSA-2737728 Reactome:R-HSA-2730752 Reactome:R-HSA-2691226 Reactome:R-HSA-2691219 Reactome:R-HSA-2691214 Reactome:R-HSA-2691211 Reactome:R-HSA-2666278 Reactome:R-HSA-2660822 Reactome:R-HSA-2660819 Reactome:R-HSA-2660816 Reactome:R-HSA-2660815 Reactome:R-HSA-2220976 Reactome:R-HSA-2220944 Reactome:R-HSA-1980122 Reactome:R-HSA-1980044 Reactome:R-HSA-1912382	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0000139	Golgi membrane	Reactome:R-HSA-5096538 Reactome:R-HSA-1912382 Reactome:R-HSA-1912379 Reactome:R-HSA-1912372 Reactome:R-HSA-1912369	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0045747	positive regulation of Notch signaling pathway	Reactome:R-HSA-9017835	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0007221	positive regulation of transcription of Notch receptor target	Reactome:R-HSA-9021451	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0006367	transcription initiation from RNA polymerase II promoter	Reactome:R-HSA-350054	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0001525	angiogenesis	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0037	P		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0539 UniProtKB-SubCell:SL-0191	C		Seeded From UniProt	complete
involved_in	GO:0030154	cell differentiation	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0221	P		Seeded From UniProt	complete
involved_in	GO:0007275	multicellular organism development	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0217	P		Seeded From UniProt	complete
enables	GO:0046872	metal ion binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0479	F		Seeded From UniProt	complete
involved_in	GO:0007219	Notch signaling pathway	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0914	P		Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0472	C		Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0812	C		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-1003 UniProtKB-SubCell:SL-0039	C		Seeded From UniProt	complete
edit table

Notes

References

See Help:References for how to manage references in GONUTS.

↑ Adamowicz, M et al. (2018) NOTCH1 modulates activity of DNA-PKcs. Mutat. Res. 808 20-27 PubMed GONUTS page
↑ ^2.0 ^2.1 McBride, KL et al. (2008) NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling. Hum. Mol. Genet. 17 2886-93 PubMed GONUTS page
↑ Bi, P et al. (2014) Inhibition of Notch signaling promotes browning of white adipose tissue and ameliorates obesity. Nat. Med. 20 911-8 PubMed GONUTS page
↑ ^4.0 ^4.1 ^4.2 ^4.3 ^4.4 ^4.5 ^4.6 Sriuranpong, V et al. (2001) Notch signaling induces cell cycle arrest in small cell lung cancer cells. Cancer Res. 61 3200-5 PubMed GONUTS page
↑ Iascone, M et al. (2012) Identification of de novo mutations and rare variants in hypoplastic left heart syndrome. Clin. Genet. 81 542-54 PubMed GONUTS page
↑ ^6.0 ^6.1 Leong, KG et al. (2007) Jagged1-mediated Notch activation induces epithelial-to-mesenchymal transition through Slug-induced repression of E-cadherin. J. Exp. Med. 204 2935-48 PubMed GONUTS page
↑ ^7.0 ^7.1 Park, YH et al. (2010) Follicular stimulating hormone enhances Notch 1 expression in SK-OV-3 ovarian cancer cells. J Gynecol Oncol 21 119-24 PubMed GONUTS page
↑ ^8.0 ^8.1 McKellar, SH et al. (2007) Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms. J. Thorac. Cardiovasc. Surg. 134 290-6 PubMed GONUTS page
↑ ^9.0 ^9.1 ^9.2 ^9.3 ^9.4 Garg, V et al. (2005) Mutations in NOTCH1 cause aortic valve disease. Nature 437 270-4 PubMed GONUTS page
↑ Ayyanan, A et al. (2006) Increased Wnt signaling triggers oncogenic conversion of human breast epithelial cells by a Notch-dependent mechanism. Proc. Natl. Acad. Sci. U.S.A. 103 3799-804 PubMed GONUTS page
↑ ^11.0 ^11.1 ^11.2 ^11.3 ^11.4 ^11.5 Brütsch, R et al. (2010) Integrin cytoplasmic domain-associated protein-1 attenuates sprouting angiogenesis. Circ. Res. 107 592-601 PubMed GONUTS page
↑ ^12.0 ^12.1 ^12.2 Woo, SM et al. (2009) Notch signaling is required for maintaining stem-cell features of neuroprogenitor cells derived from human embryonic stem cells. BMC Neurosci 10 97 PubMed GONUTS page
↑ ^13.0 ^13.1 ^13.2 ^13.3 Zhou, S et al. (2000) SKIP, a CBF1-associated protein, interacts with the ankyrin repeat domain of NotchIC To facilitate NotchIC function. Mol. Cell. Biol. 20 2400-10 PubMed GONUTS page
↑ Zhang, XP et al. (2008) Notch activation promotes cell proliferation and the formation of neural stem cell-like colonies in human glioma cells. Mol. Cell. Biochem. 307 101-8 PubMed GONUTS page
↑ Ellisen, LW et al. (1991) TAN-1, the human homolog of the Drosophila notch gene, is broken by chromosomal translocations in T lymphoblastic neoplasms. Cell 66 649-61 PubMed GONUTS page
↑ Shen, H et al. (2006) The Notch coactivator, MAML1, functions as a novel coactivator for MEF2C-mediated transcription and is required for normal myogenesis. Genes Dev. 20 675-88 PubMed GONUTS page
↑ Ghai, R et al. (2013) Structural basis for endosomal trafficking of diverse transmembrane cargos by PX-FERM proteins. Proc. Natl. Acad. Sci. U.S.A. 110 E643-52 PubMed GONUTS page
↑ Riley, MF et al. (2011) NOTCH1 missense alleles associated with left ventricular outflow tract defects exhibit impaired receptor processing and defective EMT. Biochim. Biophys. Acta 1812 121-9 PubMed GONUTS page

[PMID:29482073-1] Adamowicz, M et al. (2018) NOTCH1 modulates activity of DNA-PKcs. Mutat. Res. 808 20-27 PubMed GONUTS page

[PMID:18593716-2] 2.0 ^2.1 McBride, KL et al. (2008) NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling. Hum. Mol. Genet. 17 2886-93 PubMed GONUTS page

[PMID:25038826-3] Bi, P et al. (2014) Inhibition of Notch signaling promotes browning of white adipose tissue and ameliorates obesity. Nat. Med. 20 911-8 PubMed GONUTS page

[PMID:11306509-4] 4.0 ^4.1 ^4.2 ^4.3 ^4.4 ^4.5 ^4.6 Sriuranpong, V et al. (2001) Notch signaling induces cell cycle arrest in small cell lung cancer cells. Cancer Res. 61 3200-5 PubMed GONUTS page

[PMID:21457232-5] Iascone, M et al. (2012) Identification of de novo mutations and rare variants in hypoplastic left heart syndrome. Clin. Genet. 81 542-54 PubMed GONUTS page

[PMID:17984306-6] 6.0 ^6.1 Leong, KG et al. (2007) Jagged1-mediated Notch activation induces epithelial-to-mesenchymal transition through Slug-induced repression of E-cadherin. J. Exp. Med. 204 2935-48 PubMed GONUTS page

[PMID:20613903-7] 7.0 ^7.1 Park, YH et al. (2010) Follicular stimulating hormone enhances Notch 1 expression in SK-OV-3 ovarian cancer cells. J Gynecol Oncol 21 119-24 PubMed GONUTS page

[PMID:17662764-8] 8.0 ^8.1 McKellar, SH et al. (2007) Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms. J. Thorac. Cardiovasc. Surg. 134 290-6 PubMed GONUTS page

[PMID:16025100-9] 9.0 ^9.1 ^9.2 ^9.3 ^9.4 Garg, V et al. (2005) Mutations in NOTCH1 cause aortic valve disease. Nature 437 270-4 PubMed GONUTS page

[PMID:16501043-10] Ayyanan, A et al. (2006) Increased Wnt signaling triggers oncogenic conversion of human breast epithelial cells by a Notch-dependent mechanism. Proc. Natl. Acad. Sci. U.S.A. 103 3799-804 PubMed GONUTS page

[PMID:20616313-11] 11.0 ^11.1 ^11.2 ^11.3 ^11.4 ^11.5 Brütsch, R et al. (2010) Integrin cytoplasmic domain-associated protein-1 attenuates sprouting angiogenesis. Circ. Res. 107 592-601 PubMed GONUTS page

[PMID:19682396-12] 12.0 ^12.1 ^12.2 Woo, SM et al. (2009) Notch signaling is required for maintaining stem-cell features of neuroprogenitor cells derived from human embryonic stem cells. BMC Neurosci 10 97 PubMed GONUTS page

[PMID:10713164-13] 13.0 ^13.1 ^13.2 ^13.3 Zhou, S et al. (2000) SKIP, a CBF1-associated protein, interacts with the ankyrin repeat domain of NotchIC To facilitate NotchIC function. Mol. Cell. Biol. 20 2400-10 PubMed GONUTS page

[PMID:17849174-14] Zhang, XP et al. (2008) Notch activation promotes cell proliferation and the formation of neural stem cell-like colonies in human glioma cells. Mol. Cell. Biochem. 307 101-8 PubMed GONUTS page

[PMID:1831692-15] Ellisen, LW et al. (1991) TAN-1, the human homolog of the Drosophila notch gene, is broken by chromosomal translocations in T lymphoblastic neoplasms. Cell 66 649-61 PubMed GONUTS page

[PMID:16510869-16] Shen, H et al. (2006) The Notch coactivator, MAML1, functions as a novel coactivator for MEF2C-mediated transcription and is required for normal myogenesis. Genes Dev. 20 675-88 PubMed GONUTS page

[PMID:23382219-17] Ghai, R et al. (2013) Structural basis for endosomal trafficking of diverse transmembrane cargos by PX-FERM proteins. Proc. Natl. Acad. Sci. U.S.A. 110 E643-52 PubMed GONUTS page

[PMID:20951801-18] Riley, MF et al. (2011) NOTCH1 missense alleles associated with left ventricular outflow tract defects exhibit impaired receptor processing and defective EMT. Biochim. Biophys. Acta 1812 121-9 PubMed GONUTS page

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