Reactome | NOTCH1 t(7;9)(NOTCH1:M1580_K2555) extracellular fragment [extracellular region]

NOTCH1 t(7;9)(NOTCH1:M1580_K2555) extracellular fragment [extracellular region]

Stable Identifier

R-HSA-2220929

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

extracellular region

Icon

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General

In a small percent of T-ALL patients, the translocation t(7;9)(q34;q34.3) fuses intron 24 of NOTCH1 gene with the promoter of T cell receptor beta gene. This results in deregulated expression of a truncated NOTCH1 protein, which lacks ligand binding activity and is constitutivelu processed into NICD1 (Ellisen et al. 1991).

Literature References

PubMed ID	Title	Journal	Year
1831692	TAN-1, the human homolog of the Drosophila notch gene, is broken by chromosomal translocations in T lymphoblastic neoplasms Ellisen, LW, Bird, J, West, DC, Soreng, AL, Reynolds, TC, Smith, SD, Sklar, J	Cell	1991

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_homo_sapiens_GENE:ENSG00000148400 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

0004280056

11718259_at

11718260_at

11718261_at

17100036

1PB5

1TOZ

1YYH

218902_at

223508_at

22466

2F8X

2F8Y

2HE0

2VJ3

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

3ETO

3I08

3L95

3NBN

3V79

4851

4CUD

4CUE

4CUF

4D0E

4D0F

5FM9

5FMA

5KZO

5L0R

5UB5

65751_at

67168

76569_at

8112

8165217

86254_r_at

A_23_P60387

A_33_P3370424

AAA60614

AAG33848

BAD93110

CAB008112

CAB022466

CCDS43905

ENSG00000148400

ENSP00000277541

ENST00000277541

EntrezGene:4851

g8923012_3p_at

GE82183

GO:0000003

GO:0000122

GO:0000139

GO:0000902

GO:0000978

GO:0001228

GO:0001525

GO:0001669

GO:0001701

GO:0001708

GO:0001837

GO:0001889

GO:0001947

GO:0002040

GO:0002052

GO:0002193

GO:0002376

GO:0002437

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:0003256

GO:0003264

GO:0003270

GO:0003273

GO:0003332

GO:0003344

GO:0003674

GO:0003677

GO:0003682

GO:0003700

GO:0004857

GO:0004888

GO:0005112

GO:0005509

GO:0005515

GO:0005575

GO:0005576

GO:0005622

GO:0005623

GO:0005634

GO:0005654

GO:0005737

GO:0005783

GO:0005789

GO:0005794

GO:0005829

GO:0005886

GO:0005912

GO:0006355

GO:0006357

GO:0006367

GO:0006464

GO:0006810

GO:0006950

GO:0006955

GO:0006959

GO:0007049

GO:0007050

GO:0007155

GO:0007165

GO:0007219

GO:0007221

GO:0007267

GO:0007275

GO:0007283

GO:0007368

GO:0007386

GO:0007409

GO:0007420

GO:0007440

GO:0007492

GO:0007507

GO:0008150

GO:0008219

GO:0008283

GO:0008284

GO:0008285

GO:0008544

GO:0008593

GO:0009058

GO:0009790

GO:0009912

GO:0009986

GO:0010001

GO:0010468

GO:0010614

GO:0010628

GO:0010629

GO:0010718

GO:0010812

GO:0010832

GO:0014031

GO:0014807

GO:0016020

GO:0016021

GO:0016192

GO:0016324

GO:0019899

GO:0021515

GO:0021915

GO:0022607

GO:0030154

GO:0030182

GO:0030198

GO:0030216

GO:0030234

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:0031960

GO:0032495

GO:0032496

GO:0032991

GO:0034641

GO:0035116

GO:0035148

GO:0035914

GO:0035924

GO:0038023

GO:0040007

GO:0040011

GO:0042127

GO:0042246

GO:0042592

GO:0043065

GO:0043086

GO:0043167

GO:0043226

GO:0043235

GO:0043565

GO:0044403

GO:0045070

GO:0045165

GO:0045596

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:0045967

GO:0046427

GO:0046533

GO:0046579

GO:0046872

GO:0046982

GO:0048103

GO:0048646

GO:0048663

GO:0048708

GO:0048709

GO:0048711

GO:0048715

GO:0048754

GO:0048845

GO:0048856

GO:0048870

GO:0048873

GO:0050678

GO:0050679

GO:0050767

GO:0050768

GO:0050793

GO:0051301

GO:0055008

GO:0060038

GO:0060045

GO:0060253

GO:0060271

GO:0060317

GO:0060411

GO:0060412

GO:0060528

GO:0060548

GO:0060740

GO:0060768

GO:0060842

GO:0060843

GO:0060948

GO:0060956

GO:0060979

GO:0060982

GO:0061314

GO:0061384

GO:0061419

GO:0062043

GO:0070168

GO:0070374

GO:0070986

GO:0071372

GO:0071944

GO:0072017

GO:0072044

GO:0072144

GO:0072602

GO:0090051

GO:0090090

GO:0097150

GO:0120163

GO:1901201

GO:1902263

GO:1902339

GO:1903849

GO:2000737

GO:2000811

GO:2000974

GO:2001027

HGNC:7881

HPA067168

ILMN_1729161

IPR000152

IPR000742

IPR000800

IPR001881

IPR002110

IPR008297

IPR009030

IPR010660

IPR011656

IPR013032

IPR018097

IPR020683

IPR022362

IPR024600

IPR035993

IPR036770

LRG_1122

MIM:109730

MIM:190198

MIM:616028

NM_017617

NOTCH1

NOTCH1-201

NP_060087

PF00008

PF00066

PF06816

PF07645

PF07684

PF11936

PF12661

PF12796

PH_hs_0023725

PR01452

PR01983

PR01984

SM00004

SM00179

SM00181

SM00248

SM01334

SM01338

SM01339

TC09001734.hg

uc004chz.4

UPI0000210F68

XM_011518717

XP_011517019

Participant Of

hasComponent

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 L1600P Extracellular Fragment [extracellular region]

NOTCH1 L1574P 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 P2474Afs*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]

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]

Disease

Name	Identifier	Synonyms
T-cell leukemia	715
cancer	162	malignant tumor, malignant neoplasm, primary cancer

Cross References

RefSeq

NP_060087.3

OpenTargets

ENSG00000148400

GeneCards

P46531

ZINC - Substances

NOTC1_HUMAN

DOCK Blaster

1YYH, 3I08, 5FMA, 2HE0, 3NBN, 2VJ3, 3ETO, 3V79, 2F8Y, 2F8X, 4D0F, 3L95, 4CUD, 4CUF, 4D0E, 4CUE, 5FM9

ZINC target

P46531

PRO

P46531

Orphanet

16434

ZINC - Predictions - Purchasable

NOTC1_HUMAN

PDB

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

HMDB Protein

HMDBP02331

Interactors (25)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q92585 MAML1	1	MAML1 [nucleoplasm] (R-HSA-212416)	0.922	14
UniProt:Q06330 RBPJ	1	RBPJ [nucleoplasm] (R-HSA-3008668)	0.881	12
UniProt:Q969H0 FBXW7	1	FBXW7 [cytosol] (R-HSA-391304)	0.837	10
UniProt:Q06330-6 RBPJ			0.737	6
UniProt:P78504 JAG1	2	JAG1 [plasma membrane] (R-HSA-157098) Ub-JAG1 [plasma membrane] (R-HSA-9013079)	0.728	6
IntAct:EBI-4399559 UBIQ			0.702	3
UniProt:Q13315 ATM	3	Ac-K3016-ATM [nucleoplasm] (R-HSA-5682043) p-S1981,Ac-K3016-ATM [nucleoplasm] (R-HSA-5693527) ATM [nucleoplasm] (R-HSA-69484)	0.659	8
UniProt:P98170 XIAP	3	XIAP [nucleoplasm] (R-HSA-3322366) K48pUb-XIAP [cytosol] (R-HSA-5675477) XIAP [cytosol] (R-HSA-50849)	0.602	4
UniProt:Q13526 PIN1	2	PIN1 [nucleoplasm] (R-HSA-936016) PIN1 [cytosol] (R-HSA-9626823)	0.591	9
UniProt:O60341 KDM1A	1	KDM1A [nucleoplasm] (R-HSA-996769)	0.558	8
UniProt:Q13573 SNW1	1	SNW1 [nucleoplasm] (R-HSA-351663)	0.508	3
UniProt:Q16665 HIF1A	6	2xHP-HIF1A [nucleoplasm] (R-HSA-1234105) HN-HIF1A [cytosol] (R-HSA-1234110) 2xHP-HIF1A [cytosol] (R-HSA-1234131) p-Y565,S797-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:Q9C0K0 BC11B			0.462	2
UniProt:P63151 PPP2R2A	2	PPP2R2A [nucleoplasm] (R-HSA-1564978) PPP2R2A [cytosol] (R-HSA-377253)	0.462	2
UniProt:P78527 PRKDC	4	PRKDC [nucleoplasm] (R-HSA-62161) p-T2609,S2612,T2638,T2647-PRKDC [nucleoplasm] (R-HSA-76302) PRKDC [cytosol] (R-HSA-3134816) K48polyUb-PRKDC [cytosol] (R-HSA-8938766)	0.462	2
UniProt:Q09028 RBBP4	1	RBBP4 [nucleoplasm] (R-HSA-212223)	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	SUMO1-K444,K476-HDAC1 [nucleoplasm] (R-HSA-4616030) HDAC1 [nucleoplasm] (R-HSA-205021)	0.462	2
UniProt:Q93009 USP7	2	USP7 [nucleoplasm] (R-HSA-3215278) USP7 [cytosol] (R-HSA-8853511)	0.462	2
UniProt:P51532 SMARCA4	1	SMARCA4 [nucleoplasm] (R-HSA-201686)	0.462	5
UniProt:P28482 MAPK1	7	MAPK1 [extracellular region] (R-HSA-6806250) MAPK1 [azurophil granule lumen] (R-HSA-6799225) MAPK1 [ficolin-1-rich granule lumen] (R-HSA-6800964) 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
UniProt:Q02880 TOP2B	2	SUMO1-K-TOP2B [nucleoplasm] (R-HSA-4641297) TOP2B [nucleoplasm] (R-HSA-4641359)	0.462	2