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KIT S501_A502dup [plasma membrane]
Stable Identifier
R-HSA-9680105
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of signal transduction by growth factor receptors and second messengers (Homo sapiens)
Signaling by KIT in disease (Homo sapiens)
Signaling by extracellular domain mutants of KIT (Homo sapiens)
Ligand-independent dimerization of KIT extracellular domain mutants (Homo sapiens)
extracellular domain mutant dimers of KIT [plasma membrane] (Homo sapiens)
KIT S501_A502dup dimer [plasma membrane] (Homo sapiens)
KIT S501_A502dup [plasma membrane] (Homo sapiens)
extracellular domain mutants of KIT [plasma membrane] (Homo sapiens)
KIT S501_A502dup [plasma membrane] (Homo sapiens)
Phosphorylation of extracellular domain KIT mutants (Homo sapiens)
extracellular domain mutant dimers of KIT [plasma membrane] (Homo sapiens)
KIT S501_A502dup dimer [plasma membrane] (Homo sapiens)
KIT S501_A502dup [plasma membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:P10721 KIT
Gene Names
KIT, SCFR
Chain
signal peptide:1-25, chain:26-976
Reference Genes
BioGPS Gene:3815 KIT
COSMIC (genes):KIT KIT
CTD Gene:3815 KIT
dbSNP Gene:3815 KIT
ENSEMBL:ENSG00000157404 KIT
ENSEMBL_homo_sapiens_GENE:ENSG00000157404.17 KIT
HGNC:6342 KIT
KEGG Gene (Homo sapiens):3815 KIT
Monarch:3815 KIT
NCBI Gene:3815 KIT
OMIM:164920 KIT
UCSC:P10721 KIT
Reference Transcript
RefSeq:NM_000222.2 KIT
RefSeq:NM_001093772.1 KIT
Other Identifiers
11721613_a_at
11721614_a_at
11746065_a_at
16966855
1888_s_at
205051_PM_s_at
205051_s_at
2727601
2727602
2727616
2727620
2727621
2727624
2727625
2727626
2727628
2727631
2727633
2727634
2727635
2727636
2727637
2727638
2727639
2727640
2727641
2727642
2727643
2727644
2727645
2727646
2727647
2727648
3815
8095110
A_14_P122291
A_14_P130973
A_14_P135100
A_23_P110253
A_33_P3303245
A_33_P3407034
GE59676
GO:0000166
GO:0001541
GO:0001650
GO:0001669
GO:0002020
GO:0002244
GO:0002318
GO:0002320
GO:0002327
GO:0002376
GO:0002551
GO:0002732
GO:0003012
GO:0003824
GO:0004672
GO:0004713
GO:0004714
GO:0005020
GO:0005515
GO:0005524
GO:0005576
GO:0005615
GO:0005634
GO:0005730
GO:0005737
GO:0005886
GO:0005911
GO:0006351
GO:0006355
GO:0006468
GO:0006629
GO:0006687
GO:0006954
GO:0007010
GO:0007155
GO:0007165
GO:0007169
GO:0007283
GO:0007286
GO:0008283
GO:0008284
GO:0008354
GO:0008360
GO:0008542
GO:0008584
GO:0009314
GO:0009897
GO:0009898
GO:0009986
GO:0010628
GO:0010863
GO:0012501
GO:0016020
GO:0016192
GO:0016301
GO:0016310
GO:0016740
GO:0019221
GO:0019827
GO:0019838
GO:0019955
GO:0022414
GO:0023052
GO:0030032
GO:0030036
GO:0030097
GO:0030154
GO:0030183
GO:0030217
GO:0030218
GO:0030318
GO:0030335
GO:0031274
GO:0031401
GO:0031410
GO:0032765
GO:0035019
GO:0035162
GO:0035234
GO:0035556
GO:0035701
GO:0035855
GO:0036211
GO:0038093
GO:0038109
GO:0038162
GO:0042127
GO:0042169
GO:0042531
GO:0042803
GO:0043069
GO:0043226
GO:0043235
GO:0043303
GO:0043410
GO:0043473
GO:0043586
GO:0045747
GO:0045937
GO:0046427
GO:0046686
GO:0046777
GO:0046872
GO:0048066
GO:0048170
GO:0048565
GO:0048584
GO:0048856
GO:0048863
GO:0048870
GO:0050673
GO:0050877
GO:0050910
GO:0051091
GO:0051093
GO:0051897
GO:0060089
GO:0060326
GO:0060374
GO:0070662
GO:0070668
GO:0097324
GO:0097326
GO:0120072
GO:0140096
GO:1901135
GO:1904251
GO:1904343
GO:1904349
GO:1905065
GO:2000242
HMNXSV003047477
HMNXSV003050311
ILMN_1790160
PH_hs_0004671
TC04000313.hg
X06182_s_at
g4557694_3p_a_at
Participates
as a component of
KIT S501_A502dup dimer [plasma membrane] (Homo sapiens)
as a candidate of
extracellular domain mutants of KIT [plasma membrane] (Homo sapiens)
Other forms of this molecule
KIT C443Y [plasma membrane]
KIT T417_D419delinsY [plasma membrane]
KIT S476I [plasma membrane]
KIT K509I [plasma membrane]
KIT D419A [plasma membrane]
KIT D419del [plasma membrane]
KIT D419G [plasma membrane]
KIT N505_F508dup [plasma membrane]
KIT C443S [plasma membrane]
KIT D419N [plasma membrane]
KIT S476N [plasma membrane]
KIT D419H [plasma membrane]
KIT V560_L576del [plasma membrane]
KIT Y823N [plasma membrane]
KIT Y823C [plasma membrane]
p6Y-KIT Y823D [plasma membrane]
p7Y-KIT D816V [plasma membrane]
p7Y-KIT K642E [plasma membrane]
p7Y-KIT N822K [plasma membrane]
p7Y-KIT N822D [plasma membrane]
p7Y-KIT N822S [plasma membrane]
p-7Y KIT V654E [plasma membrane]
p7Y-KIT N822I [plasma membrane]
p7Y-KIT D816N [plasma membrane]
p7Y-KIT A829P [plasma membrane]
p7Y-KIT D816H [plasma membrane]
p6Y-KIT Y823C [plasma membrane]
p7Y-KIT K642Q [plasma membrane]
p6Y-KIT Y823N [plasma membrane]
p7Y-KIT D816A [plasma membrane]
p7Y-KIT N822H [plasma membrane]
p7Y-KIT D816F [plasma membrane]
p-7Y KIT V654A [plasma membrane]
p7Y-KIT N822T [plasma membrane]
p7Y-KIT D816E [plasma membrane]
p7Y-KIT D816Y [plasma membrane]
p7Y-KIT N822Y [plasma membrane]
p7Y-KIT V559D [plasma membrane]
p-7Y-KIT K550I;P551_V555del [plasma membrane]
p-7Y KIT W557_K558del [plasma membrane]
p-5Y KIT V560_L576del [plasma membrane]
p7Y-KIT L576P [plasma membrane]
p7Y-KIT V559_V560del [plasma membrane]
p7Y-KIT P551_V555del [plasma membrane]
p7Y-KIT V560G [plasma membrane]
p7Y-KIT K550_K558del [plasma membrane]
p7Y-KIT V560E [plasma membrane]
p7Y-KIT V560D [plasma membrane]
p7Y-KIT V559A [plasma membrane]
p7Y-KIT V559I [plasma membrane]
p7Y-KIT W557R [plasma membrane]
p7Y-KIT V559G [plasma membrane]
p7Y-KIT W557G [plasma membrane]
p7Y-KIT K509I [plasma membrane]
p-7Y-KIT A502_Y503dup [plasma membrane]
p7Y-KIT S476I [plasma membrane]
p7Y-KIT C443Y [plasma membrane]
p7Y-KIT D419A [plasma membrane]
p-7Y-KIT T417_D419delinsY [plasma membrane]
p7Y-KIT D419H [plasma membrane]
p-7Y-KIT S501_A502dup [plasma membrane]
p7Y-KIT D419del [plasma membrane]
p-7Y-KIT N505_F508dup [plasma membrane]
p7Y-KIT D419N [plasma membrane]
p7Y-KIT C443S [plasma membrane]
p7Y-KIT S476N [plasma membrane]
p7Y-KIT D419G [plasma membrane]
KIT A829P [plasma membrane]
KIT N822D [plasma membrane]
KIT V654E [plasma membrane]
KIT W557R [plasma membrane]
KIT W557G [plasma membrane]
KIT V559A [plasma membrane]
KIT K550I;P551_V555del [plasma membrane]
KIT L576P [plasma membrane]
KIT V559_V560del [plasma membrane]
KIT P551_V555del [plasma membrane]
KIT V559I [plasma membrane]
KIT K550_K558del [plasma membrane]
KIT V559G [plasma membrane]
KIT V559D [plasma membrane]
KIT W557_K558del [plasma membrane]
KIT Y823D [plasma membrane]
KIT D816V [plasma membrane]
KIT N822Y [plasma membrane]
KIT T670I [plasma membrane]
KIT D820E [plasma membrane]
KIT V654A [plasma membrane]
KIT D816H [plasma membrane]
KIT K642E [plasma membrane]
KIT V560D [plasma membrane]
KIT N822H [plasma membrane]
KIT A502_Y503dup [plasma membrane]
KIT N822K [plasma membrane]
KIT D816Y [plasma membrane]
KIT D820A [plasma membrane]
KIT N822T [plasma membrane]
KIT D816F [plasma membrane]
KIT K642Q [plasma membrane]
KIT D816E [plasma membrane]
KIT N822I [plasma membrane]
KIT V560E [plasma membrane]
KIT N822S [plasma membrane]
KIT D816N [plasma membrane]
KIT D816A [plasma membrane]
KIT V560G [plasma membrane]
p-8Y-KIT [plasma membrane]
p-S741,S746-KIT [plasma membrane]
KIT [plasma membrane]
p-7Y-KIT [plasma membrane]
Modified Residues
Name
Insertion of residues 501 to 502 at 503 from UniProt:P10721 KIT
Coordinate
503
Disease
Name
Identifier
Synonyms
cancer
DOID:162
malignant tumor, malignant neoplasm, primary cancer
Cross References
RefSeq
NP_000213.1
,
NP_001087241.1
ZINC - World Drugs
KIT_HUMAN
Guide to Pharmacology - Targets
1805
OpenTargets
ENSG00000157404
ZINC - FDA approved
KIT_HUMAN
ZINC - Substances
KIT_HUMAN
ZINC target
P10721
ZINC - Biogenic
KIT_HUMAN
PRO
P10721
PDB
8PQE
,
8DFQ
,
6GQL
,
6ITT
,
6GQM
,
7KHG
,
1T46
,
8PQF
,
6KLA
,
4PGZ
,
1PKG
,
8PQG
,
6XV9
,
8PQ9
,
7KHK
,
7KHJ
,
2E9W
,
6ITV
,
2VIF
,
6XVA
,
7ZY6
,
6HH1
,
8PQA
,
4K94
,
3G0E
,
7ZW8
,
3G0F
,
8PQB
,
2EC8
,
6XVB
,
8PQC
,
6MOB
,
6GQJ
,
2IUH
,
4HVS
,
4K9E
,
8DFM
,
4U0I
,
6GQK
,
8PQD
,
1T45
,
8DFP
ZINC - Investigational
KIT_HUMAN
COSMIC
COSV55390823
,
COSV55398383
IntEnz
2.7.10.1
GeneCards
P10721
HPA
ENSG00000157404-KIT
Ensembl
ENST00000687295
,
ENSP00000509450
,
ENSP00000288135
,
ENST00000288135
,
ENSG00000157404
Pharos - Targets
P10721
Orphanet
16308
ZINC - Predictions - Purchasable
KIT_HUMAN
HMDB Protein
HMDBP01513
Interactors (12)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P27986 PIK3R1
16
p-Y-PIK3R1 [cytosol]
(R-HSA-9680647)
PIK3R1 G376R [plasma membrane]
(R-HSA-2399717)
PIK3R1 K379E [plasma membrane]
(R-HSA-8944148)
PIK3R1 Y463_L466del [plasma membrane]
(R-HSA-2399546)
PIK3R1 H450_E451del [plasma membrane]
(R-HSA-2399545)
PIK3R1 R574_T576del [plasma membrane]
(R-HSA-2399544)
PIK3R1 D560Y [plasma membrane]
(R-HSA-2399421)
PIK3R1 N564D [plasma membrane]
(R-HSA-2399427)
PIK3R1 K459del [plasma membrane]
(R-HSA-2399554)
PIK3R1 N564K [plasma membrane]
(R-HSA-2399431)
PIK3R1 D560H [plasma membrane]
(R-HSA-2399432)
PIK3R1 R574I [plasma membrane]
(R-HSA-2399536)
PIK3R1 R574T [plasma membrane]
(R-HSA-2399540)
K63polyUb-PIK3R1 [cytosol]
(R-HSA-3080572)
PIK3R1 [cytosol]
(R-HSA-74789)
PIK3R1 [plasma membrane]
(R-HSA-198365)
0.749
19
UniProt:P62993 GRB2
1
GRB2 [cytosol]
(R-HSA-8983328)
0.743
6
UniProt:P19174 PLCG1
6
p-Y-PLCG1 [cytosol]
(R-HSA-9029082)
p-4Y-PLCG1 [plasma membrane]
(R-HSA-167679)
PLCG1 [cytosol]
(R-HSA-202320)
PLCG1 [plasma membrane]
(R-HSA-167682)
p-Y771,Y783,Y1254-PLCG1 [cytosol]
(R-HSA-202357)
p-Y771,Y783-PLCG1 [plasma membrane]
(R-HSA-1169084)
0.675
31
UniProt:O00459 PIK3R2
3
PIK3R2 [cytosol]
(R-HSA-74791)
K63polyUb-PIK3R2 [cytosol]
(R-HSA-3080554)
p-Y464-PIK3R2 [cytosol]
(R-HSA-9860512)
0.59
19
UniProt:Q14451 GRB7
1
GRB7 [cytosol]
(R-HSA-204819)
0.59
4
UniProt:P46108 CRK
1
CRK [cytosol]
(R-HSA-2980677)
0.59
4
UniProt:P21583 KITLG
0.544
2
UniProt:P35235 Ptpn11
5
p-Y546,Y584-Shp2 [cytosol]
(R-MMU-443116)
Ptpn11 [cytosol]
(R-MMU-210002)
PTPN11 [nucleoplasm]
(R-MMU-8937745)
PTPN11 [cytosol]
(R-MMU-162563)
phospho-p-Y542,Y580-PTPN11 [cytosol]
(R-MMU-162573)
0.524
2
UniProt:Q8VBX6 MPDZ
0.508
4
ChEBI:39112 BOSUTINIB
0.499
2
ChEBI:45783 IMATINIB
0.499
3
ChEBI:49375 DASATINIB
0.499
2
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