Reactome | NICD1 P2474Afs*4 [nucleoplasm]

NICD1 P2474Afs*4 [nucleoplasm]

Stable Identifier

R-HSA-2902208

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

nucleoplasm

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Literature References

PubMed ID	Title	Journal	Year
15472075	Activating mutations of NOTCH1 in human T cell acute lymphoblastic leukemia Lee, W, Blacklow, SC, Silverman, LB, Look, AT, Sanchez-Irizarry, C, Aster, JC, Ferrando, AA, Weng, AP, Morris JP, 4th	Science	2004
17646409	FBW7 mutations in leukemic cells mediate NOTCH pathway activation and resistance to gamma-secretase inhibitors Draetta, G, Rao, S, Sears, R, Strack, P, Tibbitts, D, Hardwick, J, Pieters, R, Look, AT, Welcker, M, Meijerink, JP, Winter, C, Grim, J, O'Neil, J, Clurman, BE	J Exp Med	2007

External Reference Information

External Reference

UniProt:P46531 NOTCH1

Gene Names

NOTCH1, TAN1

Chain

signal peptide:1-18, chain:19-2555, chain:1721-2555, chain:1754-2555

Reference Genes

BioGPS Gene:4851 NOTCH1

COSMIC (genes):NOTCH1 NOTCH1

CTD Gene:4851 NOTCH1

dbSNP Gene:4851 NOTCH1

ENSEMBL:ENSG00000148400 NOTCH1

ENSEMBL:ENSG00000148400.13 NOTCH1

HGNC:7881 NOTCH1

KEGG Gene (Homo sapiens):4851 NOTCH1

Monarch:4851 NOTCH1

NCBI Gene:4851 NOTCH1

OMIM:190198 NOTCH1

UCSC:P46531 NOTCH1

Reference Transcript

RefSeq:NM_017617.4 NOTCH1

Other Identifiers

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: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: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:0061314

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

Participates

as a member of

NICD1 PEST Domain Mutants [nucleoplasm] (Homo sapiens)

Other forms of this molecule

NOTCH1 L1678P S2 cleavage fragment [extracellular region]

NOTCH1 I1680N S2 cleavage fragment [extracellular region]

NOTCH1 I1718T S2 cleavage fragment [extracellular region]

NOTCH1 A1701P S2 cleavage fragment [plasma membrane]

NOTCH1 V1676D S2 cleavage fragment [extracellular region]

NOTCH1 I1680N Transmembrane Fragment [plasma membrane]

NOTCH1 I1718T Transmembrane Fragment [plasma membrane]

NOTCH1 I1616T Extracellular Fragment [extracellular region]

NOTCH1 L1596H Extracellular Fragment [extracellular region]

NOTCH1 L1678P Transmembrane Fragment [plasma membrane]

NOTCH1 A1701P Transmembrane Fragment [plasma membrane]

NOTCH1 I1616N Extracellular Fragment [extracellular region]

NOTCH1 L1593P Extracellular Fragment [extracellular region]

NOTCH1 R1598P Extracellular Fragment [extracellular region]

NOTCH1 V1576E Extracellular Fragment [extracellular region]

NOTCH1 V1676D Transmembrane Fragment [plasma membrane]

NOTCH1 F1592S Extracellular Fragment [extracellular region]

NOTCH1 L1574Q Extracellular Fragment [extracellular region]

p-NICD1 Q2440* [nucleoplasm]

p-NICD1 Q2395* [nucleoplasm]

p-NICD1 P2514Rfs*4 [nucleoplasm]

p-NICD1 P2474Afs*4 [nucleoplasm]

NOTCH1 L1574P Extracellular Fragment [extracellular region]

NOTCH1 L1600P Extracellular Fragment [extracellular region]

NEXT1 P2474Afs*4 [plasma membrane]

NEXT1 Q2395* [plasma membrane]

NEXT1 Q2440* [plasma membrane]

NEXT1 P2514Rfs*4 [plasma membrane]

NICD1 Q2395* [cytosol]

NICD1 P2514Rfs*4 [cytosol]

NICD1 P2474Afs*4 [cytosol]

NICD1 Q2440* [cytosol]

NICD1 P2514Rfs*4 [nucleoplasm]

NICD1 Q2395* [nucleoplasm]

NICD1 Q2440* [nucleoplasm]

NOTCH1 P2514Rfs*4 Transmembrane Fragment [plasma membrane]

NOTCH1 Q2395* Transmembrane Fragment [plasma membrane]

NOTCH1 Q2440* Transmembrane Fragment [plasma membrane]

NOTCH1 P2474Afs*4 Transmembrane Fragment [plasma membrane]

NOTCH1 P2_M1580del extracellular fragment [extracellular region]

NOTCH1 [endosome membrane]

p-NICD1 [nucleoplasm]

Glc,GlcNAc-Fuc-Pre-NOTCH1 [Golgi membrane]

Glc,Gal-GlcNAc-Fuc-Pre-NOTCH1 [Golgi membrane]

Glc,Sia-Gal-GlcNAc-Fuc-Pre-NOTCH1 [Golgi membrane]

FRINGE-modified NOTCH1 Extracellular Fragment (NECD1) [Golgi membrane]

Pre-NOTCH1 [endoplasmic reticulum membrane]

17xFucT-2xFucS-NOTCH1(19-2555) [endoplasmic reticulum membrane]

19xFucT-14xGlcS-2xFucS-NOTCH1(19-2555) [endoplasmic reticulum membrane]

17xFucT-14xGlcS-2xFucS-NOTCH1(19-2555) [Golgi membrane]

NOTCH1(1665-2555) [Golgi membrane]

17xFucT-14xGlcS-2xFucS-NOTCH1(19-1664) [Golgi membrane]

FRINGE-modified NOTCH1 Extracellular Fragment (NECD1) [plasma membrane]

NOTCH1(1665-2555) [plasma membrane]

19xFucT-16xGlcS-2xFucS-NOTCH1(19-1664) [extracellular region]

NOTCH1(1665-1720) [extracellular region]

NOTCH1(1721-1753) [plasma membrane]

NEXT1 [plasma membrane]

NICD1 [cytosol]

NICD1 [nucleoplasm]

Modified Residues

Name

Replacement of residues 2474 to 2476 by AHP

Disease

Name	Identifier	Synonyms
cancer	DOID:162	malignant tumor, malignant neoplasm, primary cancer
T-cell acute lymphoblastic leukemia	DOID:5603

Cross References

RefSeq

NP_060087.3

Guide to Pharmacology - Targets

2861

OpenTargets

ENSG00000148400

ZINC - Substances

NOTC1_HUMAN

ZINC target

P46531

PRO

P46531

PDB

5KZO, 6PY8, 2VJ3, 1PB5, 1TOZ, 4D0F, 4CUD, 3NBN, 5FM9, 3ETO, 4D0E, 5FMA, 3V79, 5L0R, 5UB5, 1YYH, 2HE0, 2F8Y, 4CUE, 4CUF, 3L95, 6IDF, 2F8X, 3I08

COSMIC

COSV53084844

GeneCards

P46531

HPA

ENSG00000148400-NOTCH1

Ensembl

ENSG00000148400, ENST00000651671, ENSP00000498587

Pharos - Targets

P46531

Orphanet

16434

ZINC - Predictions - Purchasable

NOTC1_HUMAN

HMDB Protein

HMDBP02331

Interactors (26)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q92585 MAML1	1	MAML1 [nucleoplasm] (R-HSA-212416)	0.948	15
UniProt:Q06330 RBPJ	1	RBPJ [nucleoplasm] (R-HSA-3008668)	0.881	12
UniProt:Q969H0 FBXW7	1	FBXW7 [cytosol] (R-HSA-391304)	0.876	11
UniProt:Q06330-6 RBPJ			0.737	6
UniProt:P78504 JAG1	2	Ub-JAG1 [plasma membrane] (R-HSA-9013079) JAG1 [plasma membrane] (R-HSA-157098)	0.728	6
IntAct:EBI-4399559 UBIQ			0.702	3
UniProt:Q13315 ATM	5	ATM [nucleoplasm] (R-HSA-69484) Ac-K3016-ATM [nucleoplasm] (R-HSA-5682043) p-S1981,Ac-K3016-ATM [nucleoplasm] (R-HSA-5693527) ATM [peroxisomal matrix] (R-HSA-9665169) ATM [cytosol] (R-HSA-9665171)	0.659	8
UniProt:P98170 XIAP	3	K48pUb-XIAP [cytosol] (R-HSA-5675477) XIAP [nucleoplasm] (R-HSA-3322366) XIAP [cytosol] (R-HSA-50849)	0.602	4
UniProt:Q13526 PIN1	2	PIN1 [cytosol] (R-HSA-9626823) PIN1 [nucleoplasm] (R-HSA-936016)	0.591	9
UniProt:O60341 KDM1A	1	KDM1A [nucleoplasm] (R-HSA-996769)	0.558	8
UniProt:Q96JK9 MAML3	1	MAML3 [nucleoplasm] (R-HSA-349689)	0.547	2
UniProt:Q13573 SNW1	1	SNW1 [nucleoplasm] (R-HSA-351663)	0.508	3
UniProt:Q16665 HIF1A	7	HN-HIF1A [cytosol] (R-HSA-1234110) 2xHP-HIF1A [nucleoplasm] (R-HSA-1234105) 2xHP-HIF1A [cytosol] (R-HSA-1234131) p-Y565,S797-HIF1A [cytosol] (R-HSA-9634700) p-Y565-HIF1A [cytosol] (R-HSA-8857584) HIF1A [cytosol] (R-HSA-1234102) HIF1A [nucleoplasm] (R-HSA-1234135)	0.499	2
UniProt:P30153 PPP2R1A	2	PPP2R1A [cytosol] (R-HSA-165982) PPP2R1A [nucleoplasm] (R-HSA-165968)	0.462	2
UniProt:Q02880 TOP2B	2	TOP2B [nucleoplasm] (R-HSA-4641359) monoSUMO1-K-TOP2B [nucleoplasm] (R-HSA-4641297)	0.462	2
UniProt:P63151 PPP2R2A	2	PPP2R2A [cytosol] (R-HSA-377253) PPP2R2A [nucleoplasm] (R-HSA-1564978)	0.462	2
UniProt:Q9C0K0 BC11B			0.462	2
UniProt:Q09028 RBBP4	1	RBBP4 [nucleoplasm] (R-HSA-212223)	0.462	2
UniProt:P78527 PRKDC	4	K48polyUb-PRKDC [cytosol] (R-HSA-8938766) PRKDC [cytosol] (R-HSA-3134816) p-T2609,S2612,T2638,T2647-PRKDC [nucleoplasm] (R-HSA-76302) PRKDC [nucleoplasm] (R-HSA-62161)	0.462	2
UniProt:O94915 FRYL			0.462	5
UniProt:Q86U86 PBRM1	1	PBRM1 [nucleoplasm] (R-HSA-389254)	0.462	4
UniProt:Q9UPP1 PHF8	1	PHF8 [nucleoplasm] (R-HSA-5423096)	0.462	7
UniProt:Q13547 HDAC1	2	HDAC1 [nucleoplasm] (R-HSA-205021) monoSUMO1-K444,K476-HDAC1 [nucleoplasm] (R-HSA-4616030)	0.462	2
UniProt:P51532 SMARCA4	1	SMARCA4 [nucleoplasm] (R-HSA-201686)	0.462	5
UniProt:Q93009 USP7	2	USP7 [cytosol] (R-HSA-8853511) USP7 [nucleoplasm] (R-HSA-3215278)	0.462	2
UniProt:P28482 MAPK1	18	MAPK1 [endoplasmic reticulum lumen] (R-HSA-9636293) MAPK1 [azurophil granule lumen] (R-HSA-6799225) MAPK1 [extracellular region] (R-HSA-6806250) MAPK1 [ficolin-1-rich granule lumen] (R-HSA-6800964) p-T185,Y187 MAPK1 E322V [cytosol] (R-HSA-9652797) p-T185,Y187 MAPK1 E322K [cytosol] (R-HSA-9652175) p-T185,Y187 MAPK1 E81K [cytosol] (R-HSA-9652799) p-T185,Y187 MAPK1 S142L [cytosol] (R-HSA-9652808) p-T185,Y187 MAPK1 P58L [cytosol] (R-HSA-9652806) p-T185,Y187 MAPK1 D321V [cytosol] (R-HSA-9652791) p-T185,Y187 MAPK1 D321N [cytosol] (R-HSA-9652785) p-T185,Y187 MAPK1 E322A [cytosol] (R-HSA-9652794) p-T185,Y187 MAPK1 P58G [cytosol] (R-HSA-9652802) p-T185-MAPK1 [cytosol] (R-HSA-9635773) MAPK1 [nucleoplasm] (R-HSA-199960) MAPK1 [cytosol] (R-HSA-59282) p-T185,Y187-MAPK1 [cytosol] (R-HSA-109853) p-T185,Y187-MAPK1 [nucleoplasm] (R-HSA-112354)	0.462	2

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