KIT K550I P551_V555del [plasma membrane]

Stable Identifier
R-HSA-9669444
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
Mast/stem cell growth factor receptor precursor, KIT_HUMAN, c-KIT
Icon
KIT K550I P551_V555del [plasma membrane] icon
KIT K550I P551_V555del [plasma membrane] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
9438854 Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors

Hirota, S, Isozaki, K, Moriyama, Y, Hashimoto, K, Nishida, T, Ishiguro, S, Kawano, K, Hanada, M, Kurata, A, Takeda, M, Muhammad Tunio, G, Matsuzawa, Y, Kanakura, Y, Shinomura, Y, Kitamura, Y

Science 1998
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
HGNC:6342 KIT
KEGG Gene (Homo sapiens):3815 KIT
Monarch:3815 KIT
NCBI Gene:3815 KIT
OMIM:164920 KIT
UCSC:P10721 KIT
Reference Transcript
Other Identifiers
0000730121
11721613_a_at
11721614_a_at
11746065_a_at
16966855
1888_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:0000003
GO:0000165
GO:0000166
GO:0000187
GO:0000902
GO:0001541
GO:0001650
GO:0001669
GO:0002020
GO:0002244
GO:0002318
GO:0002320
GO:0002327
GO:0002371
GO:0002376
GO:0002551
GO:0002573
GO:0003674
GO:0004672
GO:0004713
GO:0004714
GO:0005020
GO:0005515
GO:0005524
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005634
GO:0005730
GO:0005737
GO:0005764
GO:0005773
GO:0005886
GO:0005887
GO:0005911
GO:0006357
GO:0006464
GO:0006468
GO:0006629
GO:0006687
GO:0006810
GO:0006950
GO:0006954
GO:0007010
GO:0007155
GO:0007165
GO:0007169
GO:0007267
GO:0007275
GO:0007283
GO:0007286
GO:0008150
GO:0008219
GO:0008283
GO:0008284
GO:0008354
GO:0008360
GO:0008542
GO:0008584
GO:0009058
GO:0009314
GO:0009790
GO:0009897
GO:0009898
GO:0009986
GO:0010628
GO:0010863
GO:0014068
GO:0016020
GO:0016021
GO:0016192
GO:0016301
GO:0016310
GO:0016740
GO:0018108
GO:0019221
GO:0019827
GO:0019899
GO:0019955
GO:0022607
GO:0030032
GO:0030097
GO:0030154
GO:0030183
GO:0030217
GO:0030218
GO:0030318
GO:0030335
GO:0031274
GO:0031410
GO:0031532
GO:0032762
GO:0032991
GO:0033674
GO:0034641
GO:0035019
GO:0035162
GO:0035234
GO:0035556
GO:0035701
GO:0035855
GO:0038093
GO:0038109
GO:0038162
GO:0040011
GO:0042127
GO:0042169
GO:0042531
GO:0042592
GO:0042629
GO:0042803
GO:0043069
GO:0043167
GO:0043226
GO:0043235
GO:0043303
GO:0043406
GO:0043410
GO:0043473
GO:0043552
GO:0043586
GO:0044281
GO:0045747
GO:0046427
GO:0046686
GO:0046777
GO:0046872
GO:0048066
GO:0048103
GO:0048170
GO:0048565
GO:0048856
GO:0048863
GO:0048870
GO:0050673
GO:0050877
GO:0050910
GO:0051091
GO:0051301
GO:0051897
GO:0060326
GO:0060374
GO:0070662
GO:0097067
GO:0097324
GO:0097326
GO:0120072
GO:1904251
GO:1904343
GO:1904349
GO:1905065
ILMN_1790160
PH_hs_0004671
TC04000313.hg
X06182_s_at
g4557694_3p_a_at
Participant Of
hasMember
hasComponent
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 S501_A502dup [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]
p7Y-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]
p7Y-KIT A502_Y503dup [plasma membrane]
p7Y-KIT S476I [plasma membrane]
p7Y-KIT C443Y [plasma membrane]
p7Y-KIT D419A [plasma membrane]
p7Y-KIT T417-D419delinsY [plasma membrane]
p7Y-KIT D419H [plasma membrane]
p7Y-KIT S501_A502dup [plasma membrane]
p7Y-KIT D419del [plasma membrane]
p7Y-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 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
L-lysine 550 replaced with L-isoleucine
Coordinate
550
PsiMod
L-lysine removal [MOD:01642]
A protein modification that effectively removes or replaces an L-lysine.
L-isoleucine residue [MOD:00019]
A protein modification that effectively converts a source amino acid residue to an L-isoleucine.
Name
Deletion of residues 551 to 555
Disease
Name Identifier Synonyms
gastrointestinal stromal tumor 9253 GANT, GIST, Stromal tumor of gastrointestinal tract
cancer 162 malignant tumor, malignant neoplasm, primary cancer
Cross References
RefSeq
ZINC - World Drugs
OpenTargets
ZINC - FDA approved
ZINC - Substances
ZINC target
ZINC - Biogenic
PRO
PDB
ZINC - Investigational
HPA
GeneCards
Ensembl
Orphanet
ZINC - Predictions - Purchasable
HMDB Protein
Interactors (12)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:P27986 PIK3R1  15 0.77 19
 UniProt:P62993 GRB2  1 0.743 6
 UniProt:P19174 PLCG1  6 0.702 31
 UniProt:Q14451 GRB7  1 0.59 4
 UniProt:P46108 CRK  1 0.59 4
 UniProt:O00459 PIK3R2  2 0.59 19
 UniProt:P21583 KITLG      0.544 2
 UniProt:P35235 Ptpn11  5 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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