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
NOTCH1 t(7;9)(NOTCH1:M1580_K2555) extracellular fragment [extracellular region] icon
NOTCH1 t(7;9)(NOTCH1:M1580_K2555) extracellular fragment [extracellular region] icon
Locations in the PathwayBrowser
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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
HGNC:7881 NOTCH1
KEGG Gene (Homo sapiens):4851 NOTCH1
Monarch:4851 NOTCH1
NCBI Gene:4851 NOTCH1
OMIM:190198 NOTCH1
UCSC:P46531 NOTCH1
Reference Transcript
Other Identifiers
0004280056
11718259_at
11718260_at
11718261_at
17100036
218902_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:0000003
GO:0000122
GO:0000139
GO:0000902
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:0003713
GO:0004857
GO:0004888
GO:0005112
GO:0005509
GO:0005515
GO:0005575
GO:0005576
GO:0005622
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:0007411
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:0042802
GO:0043065
GO:0043086
GO:0043167
GO:0043226
GO:0043235
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: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:0060354
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:0090051
GO:0090090
GO:0097150
GO:0120163
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 component of
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 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 DOID:715
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
Cross References
RefSeq
OpenTargets
HPA
GeneCards
ZINC - Substances
Ensembl
ZINC target
PRO
Orphanet
ZINC - Predictions - Purchasable
HMDB Protein
PDB
Interactors (25)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q92585 MAML1  1 0.922 14
 UniProt:Q06330 RBPJ  1 0.881 12
 UniProt:Q969H0 FBXW7  1 0.837 10
 UniProt:Q06330-6 RBPJ      0.737 6
 UniProt:P78504 JAG1  2 0.728 6
 IntAct:EBI-4399559 UBIQ      0.702 3
 UniProt:Q13315 ATM  5 0.659 8
 UniProt:P98170 XIAP  3 0.602 4
 UniProt:Q13526 PIN1  2 0.591 9
 UniProt:O60341 KDM1A  1 0.558 8
 UniProt:Q13573 SNW1  1 0.508 3
 UniProt:Q16665 HIF1A  7 0.499 2
 UniProt:P30153 PPP2R1A  2 0.462 2
 UniProt:Q02880 TOP2B  2 0.462 2
 UniProt:Q9C0K0 BC11B      0.462 2
 UniProt:P63151 PPP2R2A  2 0.462 2
 UniProt:Q09028 RBBP4  1 0.462 2
 UniProt:O94915 FRYL      0.462 5
 UniProt:Q86U86 PBRM1  1 0.462 4
 UniProt:Q9UPP1 PHF8  1 0.462 7
 UniProt:P28482 MAPK1  18 0.462 2
 UniProt:Q13547 HDAC1  2 0.462 2
 UniProt:P51532 SMARCA4  1 0.462 5
 UniProt:Q93009 USP7  2 0.462 2
 UniProt:P78527 PRKDC  4 0.462 2
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