Reactome | KIT D816V [plasma membrane]

KIT D816V [plasma membrane]

Stable Identifier

R-HSA-9669452

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

plasma membrane

Synonyms

Mast/stem cell growth factor receptor precursor, KIT_HUMAN, c-KIT

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Literature References

PubMed ID	Title	Journal	Year
7691885	Identification of mutations in the coding sequence of the proto-oncogene c-kit in a human mast cell leukemia cell line causing ligand-independent activation of c-kit product Furitsu, T, Tsujimura, T, Tono, T, Ikeda, H, Kitayama, H, Koshimizu, U, Sugahara, H, Butterfield, JH, Ashman, LK, Kanayama, Y, Matsuzawa, Y, Kitamura, Y, Kanakura, Y	J. Clin. Invest.	1993

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

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 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 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-aspartic acid 816 replaced with L-valine

Coordinate

816

PsiMod

L-aspartic acid removal [MOD:01634]

A protein modification that effectively removes or replaces an L-aspartic acid.

L-valine residue [MOD:00029]

A protein modification that effectively converts a source amino acid residue to an L-valine.

Disease

Name	Identifier	Synonyms
cancer	162	malignant tumor, malignant neoplasm, primary cancer
melanoma	1909	Naevocarcinoma, melanoma, melanoma, malignant melanoma, morphology (morphologic abnormality), malignant melanoma NOS (morphologic abnormality), malignant melanoma (disorder), malignant melanoma, malignant melanoma, malignant melanoma, malignant melanoma
mast cell neoplasm	3664	mastocytoma, Mast cell Proliferative disease, mast cell tumor
acute myeloid leukemia	9119	Leukemia, Myelocytic, acute, acute myeloblastic leukemia, acute myelogenous leukemia, AML - acute Myeloid Leukemia

Cross References

RefSeq

NP_000213.1, NP_001087241.1

ZINC - World Drugs

KIT_HUMAN

OpenTargets

ENSG00000157404

ZINC - FDA approved

KIT_HUMAN

ZINC - Substances

KIT_HUMAN

ZINC target

P10721

ZINC - Biogenic

KIT_HUMAN

PRO

P10721

PDB

6GQM, 1QZJ, 6ITV, 2E9W, 4PGZ, 1QZK, 6KLA, 6GQL, 6ITT, 3G0E, 2VIF, 6XV9, 1PKG, 1R01, 2EC8, 3G0F, 4K94, 6HH1, 6XVA, 6GQK, 4K9E, 4HVS, 1T46, 4U0I, 6XVB, 1T45, 2IUH, 6GQJ, 6MOB

ZINC - Investigational

KIT_HUMAN

COSMIC

COSM28677, COSM1314

HPA

ENSG00000157404-KIT

GeneCards

P10721

Ensembl

ENST00000288135, ENSG00000157404, ENSP00000390987, ENSP00000288135, ENST00000412167

Orphanet

16308

ZINC - Predictions - Purchasable

KIT_HUMAN

HMDB Protein

HMDBP01513

Interactors (12)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P27986 PIK3R1	15	PIK3R1 K379E [plasma membrane] (R-HSA-8944148) PIK3R1 G376R [plasma membrane] (R-HSA-2399717) 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 [plasma membrane] (R-HSA-198365) PIK3R1 [cytosol] (R-HSA-74789)	0.77	19
UniProt:P62993 GRB2	1	GRB2 [cytosol] (R-HSA-8983328)	0.743	6
UniProt:P19174 PLCG1	6	p-Y771,Y783,Y1254-PLCG1 [cytosol] (R-HSA-202357) p-4Y-PLCG1 [plasma membrane] (R-HSA-167679) PLCG1 [cytosol] (R-HSA-202320) PLCG1 [plasma membrane] (R-HSA-167682) p-Y771,Y783-PLCG1 [plasma membrane] (R-HSA-1169084) p-Y-PLCG1 [cytosol] (R-HSA-9029082)	0.702	31
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:O00459 PIK3R2	2	PIK3R2 [cytosol] (R-HSA-74791) K63polyUb-PIK3R2 [cytosol] (R-HSA-3080554)	0.59	19
UniProt:P21583 KITLG			0.544	2
UniProt:P35235 Ptpn11	5	Ptpn11 [cytosol] (R-MMU-210002) p-Y546,Y584-Shp2 [cytosol] (R-MMU-443116) Ptpn11 [nucleoplasm] (R-MMU-8937745) Ptpn11 [cytosol] (R-MMU-162563) phospho-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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