Reactome | UniProt:P46531 NOTCH1

chain	signal peptide:1-18 chain:19-2555 chain:1721-2555 chain:1754-2555
checksum	E173C872D195F028
comment	FUNCTION Functions as a receptor for membrane-bound ligands Jagged-1 (JAG1), Jagged-2 (JAG2) and Delta-1 (DLL1) to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs. Involved in angiogenesis; negatively regulates endothelial cell proliferation and migration and angiogenic sprouting. Involved in the maturation of both CD4(+) and CD8(+) cells in the thymus. Important for follicular differentiation and possibly cell fate selection within the follicle. During cerebellar development, functions as a receptor for neuronal DNER and is involved in the differentiation of Bergmann glia. Represses neuronal and myogenic differentiation. May play an essential role in postimplantation development, probably in some aspect of cell specification and/or differentiation. May be involved in mesoderm development, somite formation and neurogenesis. May enhance HIF1A function by sequestering HIF1AN away from HIF1A. Required for the THBS4 function in regulating protective astrogenesis from the subventricular zone (SVZ) niche after injury. Involved in determination of left/right symmetry by modulating the balance between motile and immotile (sensory) cilia at the left-right organiser (LRO).SUBUNIT Heterodimer of a C-terminal fragment N(TM) and an N-terminal fragment N(EC) which are probably linked by disulfide bonds. Interacts with DNER, DTX1, DTX2 and RBPJ/RBPSUH. Also interacts with MAML1, MAML2 and MAML3 which act as transcriptional coactivators for NOTCH1 (PubMed:11101851, PubMed:12370315). The NOTCH1 intracellular domain interacts with SNW1; the interaction involves multimerized NOTCH1 NICD and is implicated in a formation of an intermediate preactivation complex which associates with DNA-bound CBF-1/RBPJ (PubMed:10713164). The activated membrane-bound form interacts with AAK1 which promotes NOTCH1 stabilization. Forms a trimeric complex with FBXW7 and SGK1. Interacts with HIF1AN. HIF1AN negatively regulates the function of notch intracellular domain (NICD), accelerating myogenic differentiation (PubMed:17573339). Interacts (via NICD) with SNAI1 (via zinc fingers); the interaction induces SNAI1 degradation via MDM2-mediated ubiquitination and inhibits SNAI1-induced cell invasion. Interacts (via NICD) with MDM2A. Interacts (via NICD) with BCL6; the interaction decreases MAML1 recruitment by NOTCH1 NICD on target genes DNA and inhibits NOTCH1 transcractivation activity. Interacts with THBS4 (By similarity). Interacts (via the EGF-like repeat region) with CCN3 (via CTCK domain) (PubMed:12050162). Interacts (via EGF-like domains) with DLL4 (via N-terminal DSL and MNNL domains) (By similarity). Interacts with ZMIZ1. Interacts (via NICD domain) with MEGF10 (via the cytoplasmic domain). Interacts with DLL1 and JAG1 (By similarity). Interacts (via NICD domain) with PRAG1 (By similarity). Forms a complex with PRAG1, N1ICD and MAML1, in a MAML1-dependent manner (By similarity). Interacts (via transmembrane region) with PSEN1; the interaction is direct (PubMed:30598546). Interacts with ZFP64 (By similarity).INTERACTION Following proteolytical processing NICD is translocated to the nucleus. Nuclear location may require MEGF10.TISSUE SPECIFICITY In fetal tissues most abundant in spleen, brain stem and lung. Also present in most adult tissues where it is found mainly in lymphoid tissues.DOMAIN Interaction with PSEN1 causes partial unwinding of the transmembrane helix, facilitating access to the scissile peptide bond.PTM Synthesized in the endoplasmic reticulum as an inactive form which is proteolytically cleaved by a furin-like convertase in the trans-Golgi network before it reaches the plasma membrane to yield an active, ligand-accessible form (By similarity). Cleavage results in a C-terminal fragment N(TM) and a N-terminal fragment N(EC). Following ligand binding, it is cleaved by ADAM17 to yield a membrane-associated intermediate fragment called notch extracellular truncation (NEXT) (PubMed:24226769). Following endocytosis, this fragment is then cleaved by one of the catalytic subunits of gamma-secretase (PSEN1 or PSEN2), to release a Notch-derived peptide containing the intracellular domain (NICD) from the membrane (PubMed:30598546).PTM Phosphorylated.PTM O-glycosylated on the EGF-like domains (PubMed:24226769). O-glucosylated at Ser-435 by KDELC1 and KDELC2 (PubMed:30127001). Contains both O-linked fucose and O-linked glucose in the EGF-like domains 11, 12 and 13, which are interacting with the residues on DLL4 (By similarity). O-linked glycosylation by GALNT11 is involved in determination of left/right symmetry: glycosylation promotes activation of NOTCH1, possibly by promoting cleavage by ADAM17, modulating the balance between motile and immotile (sensory) cilia at the left-right organiser (LRO) (PubMed:24226769). MFNG-, RFNG- and LFNG-mediated modification of O-fucose residues at specific EGF-like domains results in inhibition of its activation by JAG1 and enhancement of its activation by DLL1 via an increased binding to DLL1 (By similarity).PTM Ubiquitinated. Undergoes 'Lys-29'-linked polyubiquitination by ITCH; promotes the lysosomal degradation of non-activated internalized NOTCH1 (PubMed:18628966, PubMed:23886940). Monoubiquitination at Lys-1759 is required for activation by gamma-secretase cleavage, it promotes interaction with AAK1, which stabilizes it. Deubiquitination by EIF3F is necessary for nuclear import of activated Notch (PubMed:24226769).PTM Hydroxylated at Asn-1955 by HIF1AN. Hydroxylated at Asn-2022 by HIF1AN (By similarity). Hydroxylation reduces affinity for HI1AN and may thus indirectly modulate negative regulation of NICD (By similarity).DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the NOTCH family.
crossReference	[DatabaseIdentifier:10980949] Pharos - Targets:P46531 [DatabaseIdentifier:10984218] Guide to Pharmacology - Targets:2861 [DatabaseIdentifier:11082911] OpenTargets:ENSG00000148400 [DatabaseIdentifier:11602182] RefSeq:NP_060087.3 [DatabaseIdentifier:11765964] PDB:1PB5 [DatabaseIdentifier:11765966] PDB:1TOZ [DatabaseIdentifier:11765976] PDB:1YYH [DatabaseIdentifier:11765978] PDB:2F8X [DatabaseIdentifier:11765979] PDB:2F8Y [DatabaseIdentifier:11765989] PDB:2HE0 [DatabaseIdentifier:11765991] PDB:2VJ3 [DatabaseIdentifier:11766001] PDB:3ETO [DatabaseIdentifier:11766003] PDB:3I08 [DatabaseIdentifier:11766013] PDB:3L95 [DatabaseIdentifier:11766015] PDB:3NBN [DatabaseIdentifier:11766026] PDB:3V79 [DatabaseIdentifier:11766028] PDB:4CUD [DatabaseIdentifier:11766038] PDB:4CUE [DatabaseIdentifier:11766039] PDB:4CUF [DatabaseIdentifier:11766041] PDB:4D0E [DatabaseIdentifier:11766051] PDB:4D0F [DatabaseIdentifier:11766052] PDB:5FM9 [DatabaseIdentifier:11766054] PDB:5FMA [DatabaseIdentifier:11766065] PDB:5KZO [DatabaseIdentifier:11766067] PDB:5L0R [DatabaseIdentifier:11766078] PDB:5UB5 [DatabaseIdentifier:11766080] PDB:6IDF [DatabaseIdentifier:11766088] PDB:6PY8 [DatabaseIdentifier:11766090] PDB:8OR5 [DatabaseIdentifier:11766101] PDB:8ORY [DatabaseIdentifier:11766103] PDB:8ORZ [DatabaseIdentifier:11837002] PRO:P46531 [DatabaseIdentifier:11849900] GeneCards:P46531 [DatabaseIdentifier:11855227] ZINC - Substances:NOTC1_HUMAN [DatabaseIdentifier:11863337] ZINC - Predictions - Purchasable:NOTC1_HUMAN [DatabaseIdentifier:11866489] ZINC target:P46531 [DatabaseIdentifier:11885445] Orphanet:16434 [DatabaseIdentifier:11887480] HMDB Protein:HMDBP02331 [DatabaseIdentifier:11903276] HPA:ENSG00000148400-NOTCH1 [DatabaseIdentifier:12128470] Ensembl:ENSP00000498587 [DatabaseIdentifier:12128471] Ensembl:ENST00000651671 [DatabaseIdentifier:12128472] Ensembl:ENSG00000148400
databaseName	UniProt
dbId	60520
description	recommendedName: Neurogenic locus notch homolog protein 1 shortName: Notch 1 shortName: hN1 alternativeName: Translocation-associated notch protein TAN-1 component recommendedName: Notch 1 extracellular truncation shortName: NEXT /component component recommendedName: Notch 1 intracellular domain shortName: NICD /component
displayName	UniProt:P46531 NOTCH1
geneName	NOTCH1 TAN1
identifier	P46531
isSequenceChanged	false
keyword	3D-structure Activator Angiogenesis ANK repeat Calcium Cell membrane Developmental protein Differentiation Direct protein sequencing Disease variant Disulfide bond EGF-like domain Glycoprotein Hydroxylation Isopeptide bond Membrane Metal-binding Notch signaling pathway Nucleus Phosphoprotein Receptor Reference proteome Repeat Signal Transcription Transcription regulation Transmembrane Transmembrane helix Ubl conjugation
modified	[InstanceEdit:12187927] Wright, Adam, 2024-03-12
name	NOTCH1
otherIdentifier	11718259_at 11718260_at 11718261_at 17100036 218902_PM_at 218902_at 223508_PM_at 223508_at 3230142 3230143 3230144 3230145 3230152 3230154 3230157 3230158 3230159 3230160 3230163 3230165 3230166 3230167 3230168 3230169 3230170 3230171 3230172 3230176 3230177 3230180 3230181 3230183 3230185 3230186 3230187 3230188 3230189 3230190 3230193 3230194 3230196 3230198 3230202 3230203 3230219 3230220 4851 65751_at 76569_at 8165217 86254_r_at A_23_P60387 A_33_P3370424 GE82183 GO:0000122 GO:0000139 GO:0000987 GO:0001228 GO:0001525 GO:0001554 GO:0001669 GO:0001701 GO:0001837 GO:0001889 GO:0001947 GO:0002040 GO:0002052 GO:0002085 GO:0002193 GO:0002376 GO:0002437 GO:0003012 GO:0003151 GO:0003157 GO:0003160 GO:0003162 GO:0003169 GO:0003180 GO:0003181 GO:0003182 GO:0003184 GO:0003192 GO:0003197 GO:0003198 GO:0003203 GO:0003207 GO:0003208 GO:0003209 GO:0003213 GO:0003214 GO:0003219 GO:0003222 GO:0003241 GO:0003252 GO:0003264 GO:0003270 GO:0003273 GO:0003332 GO:0003344 GO:0003677 GO:0003682 GO:0003713 GO:0004857 GO:0004888 GO:0005112 GO:0005509 GO:0005515 GO:0005576 GO:0005634 GO:0005654 GO:0005737 GO:0005783 GO:0005789 GO:0005794 GO:0005829 GO:0005886 GO:0005912 GO:0006351 GO:0006355 GO:0006357 GO:0006366 GO:0006606 GO:0006886 GO:0006913 GO:0006915 GO:0006954 GO:0006955 GO:0006959 GO:0007155 GO:0007219 GO:0007221 GO:0007275 GO:0007283 GO:0007368 GO:0007386 GO:0007409 GO:0007411 GO:0007440 GO:0007492 GO:0007507 GO:0008283 GO:0008284 GO:0008285 GO:0008544 GO:0008593 GO:0009912 GO:0009957 GO:0009986 GO:0010001 GO:0010467 GO:0010468 GO:0010614 GO:0010628 GO:0010629 GO:0010718 GO:0010812 GO:0010832 GO:0012501 GO:0014031 GO:0014807 GO:0016020 GO:0016192 GO:0016324 GO:0017156 GO:0019899 GO:0021515 GO:0021915 GO:0022414 GO:0023052 GO:0030154 GO:0030163 GO:0030182 GO:0030198 GO:0030216 GO:0030279 GO:0030324 GO:0030326 GO:0030334 GO:0030335 GO:0030513 GO:0030514 GO:0030900 GO:0031069 GO:0031100 GO:0031410 GO:0031490 GO:0032495 GO:0032496 GO:0032966 GO:0035116 GO:0035148 GO:0035914 GO:0035924 GO:0038023 GO:0042127 GO:0042246 GO:0042670 GO:0042802 GO:0043065 GO:0043069 GO:0043086 GO:0043226 GO:0043235 GO:0044782 GO:0045070 GO:0045603 GO:0045607 GO:0045608 GO:0045618 GO:0045662 GO:0045665 GO:0045668 GO:0045687 GO:0045747 GO:0045892 GO:0045893 GO:0045944 GO:0045955 GO:0046427 GO:0046533 GO:0046579 GO:0046872 GO:0048103 GO:0048663 GO:0048708 GO:0048709 GO:0048711 GO:0048715 GO:0048754 GO:0048845 GO:0048856 GO:0048870 GO:0048873 GO:0050673 GO:0050678 GO:0050679 GO:0050680 GO:0050767 GO:0050768 GO:0050793 GO:0051152 GO:0055008 GO:0060038 GO:0060045 GO:0060089 GO:0060253 GO:0060271 GO:0060317 GO:0060354 GO:0060379 GO:0060411 GO:0060412 GO:0060528 GO:0060740 GO:0060768 GO:0060842 GO:0060843 GO:0060948 GO:0060956 GO:0060979 GO:0060982 GO:0061101 GO:0061344 GO:0061384 GO:0062043 GO:0070168 GO:0070374 GO:0070986 GO:0071228 GO:0071372 GO:0071456 GO:0071944 GO:0072017 GO:0072044 GO:0072091 GO:0072144 GO:0072148 GO:0072538 GO:0090051 GO:0090090 GO:0097150 GO:0097400 GO:0098772 GO:0120163 GO:0140110 GO:0140537 GO:1901201 GO:1902263 GO:1902339 GO:1903849 GO:2000048 GO:2000737 GO:2000811 GO:2000974 GO:2001027 HMNXSV003038528 HMNXSV003047489 ILMN_1729161 PH_hs_0023725 TC09001734.hg TC09001736.hg g8923012_3p_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-2730745] NOTCH1 L1678P S2 cleavage fragment [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2730744] NOTCH1 I1680N S2 cleavage fragment [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2730757] NOTCH1 I1718T S2 cleavage fragment [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2730742] NOTCH1 A1701P S2 cleavage fragment [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2730755] NOTCH1 V1676D S2 cleavage fragment [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2684869] NOTCH1 I1680N Transmembrane Fragment [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2684881] NOTCH1 I1718T Transmembrane Fragment [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2684866] NOTCH1 I1616T Extracellular Fragment [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2684853] NOTCH1 L1596H Extracellular Fragment [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-1485591] NOTCH1 L1678P Transmembrane Fragment [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-1485585] NOTCH1 A1701P Transmembrane Fragment [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2684862] NOTCH1 I1616N Extracellular Fragment [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-1485584] NOTCH1 L1593P Extracellular Fragment [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-1485592] NOTCH1 R1598P Extracellular Fragment [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2684852] NOTCH1 V1576E Extracellular Fragment [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2684874] NOTCH1 V1676D Transmembrane Fragment [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2684847] NOTCH1 F1592S Extracellular Fragment [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2691203] NOTCH1 L1574Q Extracellular Fragment [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2902207] p-NICD1 Q2440* [nucleoplasm] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2902205] p-NICD1 Q2395* [nucleoplasm] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2159809] p-NICD1 P2514Rfs4 [nucleoplasm] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2902204] p-NICD1 P2474Afs4 [nucleoplasm] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-1485582] NOTCH1 L1574P Extracellular Fragment [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2681764] NOTCH1 L1600P Extracellular Fragment [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2902194] NEXT1 P2474Afs4 [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2902192] NEXT1 Q2395 [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2902196] NEXT1 Q2440* [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2768989] NEXT1 P2514Rfs4 [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2902195] NICD1 Q2395 [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2768996] NICD1 P2514Rfs4 [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2902193] NICD1 P2474Afs4 [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2902191] NICD1 Q2440* [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2769013] NICD1 P2514Rfs4 [nucleoplasm] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2902208] NICD1 P2474Afs4 [nucleoplasm] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2902201] NICD1 Q2395* [nucleoplasm] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2902200] NICD1 Q2440* [nucleoplasm] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2768982] NOTCH1 P2514Rfs4 Transmembrane Fragment [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-1485596] NOTCH1 Q2395 Transmembrane Fragment [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-1485602] NOTCH1 Q2440* Transmembrane Fragment [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2894873] NOTCH1 P2474Afs*4 Transmembrane Fragment [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2220929] NOTCH1 P2_M1580del extracellular fragment [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9793912] NOTCH1 [endosome membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-1604444] p-NICD1 [nucleoplasm] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-1911426] Glc,GlcNAc-Fuc-Pre-NOTCH1 [Golgi membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-1911415] Glc,Gal-GlcNAc-Fuc-Pre-NOTCH1 [Golgi membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-1911503] Glc,Sia-Gal-GlcNAc-Fuc-Pre-NOTCH1 [Golgi membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-1911511] FRINGE-modified NOTCH1 Extracellular Fragment (NECD1) [Golgi membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-157024] Pre-NOTCH1 [endoplasmic reticulum membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-1467396] 17xFucT-2xFucS-NOTCH1(19-2555) [endoplasmic reticulum membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-1467425] 19xFucT-14xGlcS-2xFucS-NOTCH1(19-2555) [endoplasmic reticulum membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-1472872] 17xFucT-14xGlcS-2xFucS-NOTCH1(19-2555) [Golgi membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-157092] NOTCH1(1665-2555) [Golgi membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-1983679] 17xFucT-14xGlcS-2xFucS-NOTCH1(19-1664) [Golgi membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-1911512] FRINGE-modified NOTCH1 Extracellular Fragment (NECD1) [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-157239] NOTCH1(1665-2555) [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-1983670] 19xFucT-16xGlcS-2xFucS-NOTCH1(19-1664) [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-157654] NOTCH1(1665-1720) [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-157656] NOTCH1(1721-1753) [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-157200] NEXT1 [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-157634] NICD1 [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-157939] NICD1 [nucleoplasm] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:1606483] ENSEMBL:ENSG00000148400 NOTCH1 [ReferenceDNASequence:11022203] KEGG Gene (Homo sapiens):4851 NOTCH1 [ReferenceDNASequence:11227508] NCBI Gene:4851 NOTCH1 [ReferenceDNASequence:11227509] BioGPS Gene:4851 NOTCH1 [ReferenceDNASequence:11227510] CTD Gene:4851 NOTCH1 [ReferenceDNASequence:11227511] dbSNP Gene:4851 NOTCH1 [ReferenceDNASequence:11227512] Monarch:4851 NOTCH1 [ReferenceDNASequence:11343476] ENSEMBL_homo_sapiens_GENE:ENSG00000148400.13 NOTCH1 [ReferenceDNASequence:11517451] UCSC:P46531 NOTCH1 [ReferenceDNASequence:11798471] OMIM:190198 NOTCH1 [ReferenceDNASequence:11877251] HGNC:7881 NOTCH1 [ReferenceDNASequence:12198905] COSMIC (genes):NOTCH1 NOTCH1
referenceTranscript	[ReferenceRNASequence:11467469] RefSeq:NM_017617.4 NOTCH1
schemaClass	ReferenceGeneProduct
secondaryIdentifier	NOTC1_HUMAN Q59ED8 Q5SXM3
sequenceLength	2555
species	[Species:48887] Homo sapiens
url	https://purl.uniprot.org/uniprot/P46531

(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-2730745] NOTCH1 L1678P S2 cleavage fragment [extracellular region] [EntityWithAccessionedSequence:R-HSA-2730744] NOTCH1 I1680N S2 cleavage fragment [extracellular region] [EntityWithAccessionedSequence:R-HSA-2730757] NOTCH1 I1718T S2 cleavage fragment [extracellular region] [EntityWithAccessionedSequence:R-HSA-2730742] NOTCH1 A1701P S2 cleavage fragment [plasma membrane] [EntityWithAccessionedSequence:R-HSA-2730755] NOTCH1 V1676D S2 cleavage fragment [extracellular region] [EntityWithAccessionedSequence:R-HSA-2684869] NOTCH1 I1680N Transmembrane Fragment [plasma membrane] [EntityWithAccessionedSequence:R-HSA-2684881] NOTCH1 I1718T Transmembrane Fragment [plasma membrane] [EntityWithAccessionedSequence:R-HSA-2684866] NOTCH1 I1616T Extracellular Fragment [extracellular region] [EntityWithAccessionedSequence:R-HSA-2684853] NOTCH1 L1596H Extracellular Fragment [extracellular region] [EntityWithAccessionedSequence:R-HSA-1485591] NOTCH1 L1678P Transmembrane Fragment [plasma membrane] [EntityWithAccessionedSequence:R-HSA-1485585] NOTCH1 A1701P Transmembrane Fragment [plasma membrane] [EntityWithAccessionedSequence:R-HSA-2684862] NOTCH1 I1616N Extracellular Fragment [extracellular region] [EntityWithAccessionedSequence:R-HSA-1485584] NOTCH1 L1593P Extracellular Fragment [extracellular region] [EntityWithAccessionedSequence:R-HSA-1485592] NOTCH1 R1598P Extracellular Fragment [extracellular region] [EntityWithAccessionedSequence:R-HSA-2684852] NOTCH1 V1576E Extracellular Fragment [extracellular region] [EntityWithAccessionedSequence:R-HSA-2684874] NOTCH1 V1676D Transmembrane Fragment [plasma membrane] [EntityWithAccessionedSequence:R-HSA-2684847] NOTCH1 F1592S Extracellular Fragment [extracellular region] [EntityWithAccessionedSequence:R-HSA-2691203] NOTCH1 L1574Q Extracellular Fragment [extracellular region] [EntityWithAccessionedSequence:R-HSA-2902207] p-NICD1 Q2440* [nucleoplasm] [EntityWithAccessionedSequence:R-HSA-2902205] p-NICD1 Q2395* [nucleoplasm] [EntityWithAccessionedSequence:R-HSA-2159809] p-NICD1 P2514Rfs4 [nucleoplasm] [EntityWithAccessionedSequence:R-HSA-2902204] p-NICD1 P2474Afs4 [nucleoplasm] [EntityWithAccessionedSequence:R-HSA-1485582] NOTCH1 L1574P Extracellular Fragment [extracellular region] [EntityWithAccessionedSequence:R-HSA-2681764] NOTCH1 L1600P Extracellular Fragment [extracellular region] [EntityWithAccessionedSequence:R-HSA-2902194] NEXT1 P2474Afs4 [plasma membrane] [EntityWithAccessionedSequence:R-HSA-2902192] NEXT1 Q2395 [plasma membrane] [EntityWithAccessionedSequence:R-HSA-2902196] NEXT1 Q2440* [plasma membrane] [EntityWithAccessionedSequence:R-HSA-2768989] NEXT1 P2514Rfs4 [plasma membrane] [EntityWithAccessionedSequence:R-HSA-2902195] NICD1 Q2395 [cytosol] [EntityWithAccessionedSequence:R-HSA-2768996] NICD1 P2514Rfs4 [cytosol] [EntityWithAccessionedSequence:R-HSA-2902193] NICD1 P2474Afs4 [cytosol] [EntityWithAccessionedSequence:R-HSA-2902191] NICD1 Q2440* [cytosol] [EntityWithAccessionedSequence:R-HSA-2769013] NICD1 P2514Rfs4 [nucleoplasm] [EntityWithAccessionedSequence:R-HSA-2902208] NICD1 P2474Afs4 [nucleoplasm] [EntityWithAccessionedSequence:R-HSA-2902201] NICD1 Q2395* [nucleoplasm] [EntityWithAccessionedSequence:R-HSA-2902200] NICD1 Q2440* [nucleoplasm] [EntityWithAccessionedSequence:R-HSA-2768982] NOTCH1 P2514Rfs4 Transmembrane Fragment [plasma membrane] [EntityWithAccessionedSequence:R-HSA-1485596] NOTCH1 Q2395 Transmembrane Fragment [plasma membrane] [EntityWithAccessionedSequence:R-HSA-1485602] NOTCH1 Q2440* Transmembrane Fragment [plasma membrane] [EntityWithAccessionedSequence:R-HSA-2894873] NOTCH1 P2474Afs*4 Transmembrane Fragment [plasma membrane] [EntityWithAccessionedSequence:R-HSA-2220929] NOTCH1 P2_M1580del extracellular fragment [extracellular region] [EntityWithAccessionedSequence:R-HSA-9793912] NOTCH1 [endosome membrane] [EntityWithAccessionedSequence:R-HSA-1604444] p-NICD1 [nucleoplasm] [EntityWithAccessionedSequence:R-HSA-1911426] Glc,GlcNAc-Fuc-Pre-NOTCH1 [Golgi membrane] [EntityWithAccessionedSequence:R-HSA-1911415] Glc,Gal-GlcNAc-Fuc-Pre-NOTCH1 [Golgi membrane] [EntityWithAccessionedSequence:R-HSA-1911503] Glc,Sia-Gal-GlcNAc-Fuc-Pre-NOTCH1 [Golgi membrane] [EntityWithAccessionedSequence:R-HSA-1911511] FRINGE-modified NOTCH1 Extracellular Fragment (NECD1) [Golgi membrane] [EntityWithAccessionedSequence:R-HSA-157024] Pre-NOTCH1 [endoplasmic reticulum membrane] [EntityWithAccessionedSequence:R-HSA-1467396] 17xFucT-2xFucS-NOTCH1(19-2555) [endoplasmic reticulum membrane] [EntityWithAccessionedSequence:R-HSA-1467425] 19xFucT-14xGlcS-2xFucS-NOTCH1(19-2555) [endoplasmic reticulum membrane] [EntityWithAccessionedSequence:R-HSA-1472872] 17xFucT-14xGlcS-2xFucS-NOTCH1(19-2555) [Golgi membrane] [EntityWithAccessionedSequence:R-HSA-157092] NOTCH1(1665-2555) [Golgi membrane] [EntityWithAccessionedSequence:R-HSA-1983679] 17xFucT-14xGlcS-2xFucS-NOTCH1(19-1664) [Golgi membrane] [EntityWithAccessionedSequence:R-HSA-1911512] FRINGE-modified NOTCH1 Extracellular Fragment (NECD1) [plasma membrane] [EntityWithAccessionedSequence:R-HSA-157239] NOTCH1(1665-2555) [plasma membrane] [EntityWithAccessionedSequence:R-HSA-1983670] 19xFucT-16xGlcS-2xFucS-NOTCH1(19-1664) [extracellular region] [EntityWithAccessionedSequence:R-HSA-157654] NOTCH1(1665-1720) [extracellular region] [EntityWithAccessionedSequence:R-HSA-157656] NOTCH1(1721-1753) [plasma membrane] [EntityWithAccessionedSequence:R-HSA-157200] NEXT1 [plasma membrane] [EntityWithAccessionedSequence:R-HSA-157634] NICD1 [cytosol] [EntityWithAccessionedSequence:R-HSA-157939] NICD1 [nucleoplasm]
(referenceSequence)	[ReplacedResidue:2684875] L-isoleucine 1680 replaced with L-asparagine [ReplacedResidue:2684884] L-isoleucine 1718 replaced with L-threonine [ReplacedResidue:2684863] L-isoleucine 1616 replaced with L-threonine [ReplacedResidue:2684857] L-leucine 1596 replaced with L-histidine [ReplacedResidue:1485590] L-leucine 1678 replaced with L-proline [ReplacedResidue:1485586] L-alanine 1701 replaced with L-proline [ReplacedResidue:2684865] L-isoleucine 1616 replaced with L-asparagine [ReplacedResidue:1485589] L-leucine 1593 replaced with L-proline [ReplacedResidue:1485583] L-arginine 1598 replaced with L-proline [ReplacedResidue:2684858] L-valine 1576 replaced with L-glutamic acid [ReplacedResidue:2684878] L-valine 1676 replaced with L-aspartic acid [ReplacedResidue:2684845] L-phenylalanine 1592 replaced with L-serine [ReplacedResidue:2691207] L-leucine 1574 replaced with L-glutamine [ReplacedResidue:1485593] L-leucine 1574 replaced with L-proline [ReplacedResidue:1485611] L-leucine 1600 replaced with L-proline [NonsenseMutation:5640168] Nonsense mutation at L-glutamine 2403 [FragmentReplacedModification:9827803] Replacement of residues 2514 to 2516 by RVP [NonsenseMutation:5640165] Nonsense mutation at L-glutamine 2395 [NonsenseMutation:5640162] Nonsense mutation at L-glutamine 2440 [FragmentReplacedModification:9827808] Replacement of residues 2474 to 2476 by AHP [FragmentDeletionModification:9830728] Deletion of residues 1 to 1579 [ModifiedResidue:1604443] O-phospho-L-serine at unknown position [GroupModifiedResidue:1604449] O-fucosyl-L-threonine (N-acetyl-beta-D-glucosaminyl-(1->3)-alpha-L-fucosyl group) at unknown position [GroupModifiedResidue:1604448] O-fucosyl-L-threonine (beta- D- galactopyranosyl- (1?4)- 2- acetamido- 2- deoxy- beta- D- glucopyranosyl- (1?3)- 6- deoxy- alpha- L- galactopyranosyl group) at unknown position [GroupModifiedResidue:1604451] O-fucosyl-L-threonine (alpha- N- acetylneuraminyl- (2?3)- beta- D- galactopyranosyl- (1?4)- 2- acetamido- 2- deoxy- ?- D- glucopyranosyl- (1?3)- 6- deoxy- alpha- L- galactopyranosyl group) at unknown position [ModifiedResidue:1467432] O-glucosyl-L-serine at 951 [ModifiedResidue:1467309] O-fucosyl-L-threonine at 1402 [ModifiedResidue:1467374] O-fucosyl-L-threonine at 805 [ModifiedResidue:1467424] O-glucosyl-L-serine at 609 [ModifiedResidue:1467296] O-glucosyl-L-serine at 534 [ModifiedResidue:1467362] O-glucosyl-L-serine at 1189 [ModifiedResidue:1467426] O-fucosyl-L-threonine at 232 [ModifiedResidue:1467365] O-glucosyl-L-serine at 1027 [ModifiedResidue:1467429] O-glucosyl-L-serine at 65 [ModifiedResidue:1467303] O-fucosyl-L-threonine at 1197 [ModifiedResidue:1467431] O-fucosyl-L-threonine at 617 [ModifiedResidue:1467302] O-glucosyl-L-serine at 496 [ModifiedResidue:1467386] O-glucosyl-L-serine at 1273 [ModifiedResidue:1467322] O-fucosyl-L-threonine at 767 [ModifiedResidue:1467324] O-fucosyl-L-threonine at 1362 [ModifiedResidue:1467388] O-fucosyl-L-threonine at 349 [ModifiedResidue:1467376] O-glucosyl-L-serine at 722 [ModifiedResidue:1467315] O-fucosyl-L-threonine at 194 [ModifiedResidue:1467314] O-fucosyl-L-threonine at 73 [ModifiedResidue:1467337] O-glucosyl-L-serine at 458 [ModifiedResidue:1467403] O-fucosyl-L-threonine at 116 [ModifiedResidue:1467341] O-glucosyl-L-serine at 1065 [ModifiedResidue:1467404] O-glucosyl-L-serine at 378 [ModifiedResidue:1467343] O-fucosyl-L-threonine at 1321 [ModifiedResidue:1467406] O-glucosyl-L-serine at 146 [ModifiedResidue:1467329] O-fucosyl-L-threonine at 1243 [ModifiedResidue:1467395] O-glucosyl-L-serine at 759 [ModifiedResidue:1467331] O-fucosyl-L-threonine at 997 [ModifiedResidue:1467353] O-glucosyl-L-serine at 647 [ModifiedResidue:1467357] O-fucosyl-L-threonine at 466 [ModifiedResidue:1467420] O-fucosyl-L-serine at 883 [ModifiedResidue:1467344] O-fucosyl-L-threonine at 311 [ModifiedResidue:1467410] O-fucosyl-L-serine at 921 [ModifiedResidue:1467349] O-glucosyl-L-serine at 797 [ModifiedResidue:1467348] O-fucosyl-L-threonine at 1159 [ModifiedResidue:1467412] O-fucosyl-L-threonine at 1035 [ModifiedResidue:1467350] O-fucosyl-L-threonine at 692
(interactor)	[UndirectedInteraction:12232777] UniProt:P46531 <-> UniProt:P30153 (IntAct) [UndirectedInteraction:12232775] UniProt:P46531 <-> UniProt:Q02880 (IntAct) [UndirectedInteraction:12232773] UniProt:P46531 <-> UniProt:P63151 (IntAct) [UndirectedInteraction:12232771] UniProt:P46531 <-> UniProt:Q9C0K0 (IntAct) [UndirectedInteraction:12232767] UniProt:P46531 <-> UniProt:Q09028 (IntAct) [UndirectedInteraction:12232765] UniProt:P46531 <-> UniProt:P78527 (IntAct) [UndirectedInteraction:12232763] UniProt:P46531 <-> UniProt:O94915 (IntAct) [UndirectedInteraction:12232759] UniProt:P46531 <-> UniProt:Q86U86 (IntAct) [UndirectedInteraction:12232757] UniProt:P46531 <-> UniProt:P28482 (IntAct) [UndirectedInteraction:12232755] UniProt:P46531 <-> UniProt:Q13547 (IntAct) [UndirectedInteraction:12232753] UniProt:P46531 <-> UniProt:P51532 (IntAct) [UndirectedInteraction:12232751] UniProt:P46531 <-> UniProt:Q16665 (IntAct) [UndirectedInteraction:12232749] UniProt:P46531 <-> UniProt:Q96JK9 (IntAct) [UndirectedInteraction:12232747] UniProt:P46531 <-> UniProt:O60341 (IntAct) [UndirectedInteraction:12232745] UniProt:P46531 <-> UniProt:Q13526 (IntAct) [UndirectedInteraction:12232743] UniProt:P46531 <-> UniProt:P98170 (IntAct) [UndirectedInteraction:12232741] UniProt:P46531 <-> UniProt:Q13315 (IntAct) [UndirectedInteraction:12232739] UniProt:P46531 <-> IntAct:EBI-4399559 (IntAct) [UndirectedInteraction:12232737] UniProt:P46531 <-> UniProt:P78504 (IntAct) [UndirectedInteraction:12232735] UniProt:P46531 <-> UniProt:Q06330-6 (IntAct) [UndirectedInteraction:12232731] UniProt:P46531 <-> UniProt:Q969H0 (IntAct) [UndirectedInteraction:12232729] UniProt:P46531 <-> UniProt:Q06330 (IntAct) [UndirectedInteraction:12232727] UniProt:P46531 <-> UniProt:Q92585 (IntAct) [UndirectedInteraction:12219931] UniProt:Q13573 <-> UniProt:P46531 (IntAct) [UndirectedInteraction:12213137] UniProt:Q93009 <-> UniProt:P46531 (IntAct) [UndirectedInteraction:12205931] UniProt:Q9UPP1 <-> UniProt:P46531 (IntAct)

UniProt:P46531 NOTCH1 Show undefined attributes

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