P10721

※ Protein Information

Tag	Content
UniProt Accession	KIT_HUMAN; P10721;
Entrez ID	3815
GenBank Protein ID	NM_000222.2; NM_001093772.1;
GenBank Nucleotide ID	NP_000213.1; NP_001087241.1;
Protein Name	Mast/stem cell growth factor receptor Kit (SCFR) (EC 2.7.10.1) (Piebald trait protein) (PBT) (Proto-oncogene c-Kit) (Tyrosine-protein kinase Kit) (p145 c-kit) (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog) (CD antigen CD117)
Gene Name	KIT; SCFR
Organism	Homo sapiens
NCBI Taxa ID	9606
Functional Description	Tyrosine-protein kinase that acts as cell-surface receptor for the cytokine KITLG/SCF and plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. In response to KITLG/SCF binding, KIT can activate several signaling pathways. Phosphorylates PIK3R1, PLCG1, SH2B2/APS and CBL. Activates the AKT1 signaling pathway by phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase. Activate(view all) Functional Description Tyrosine-protein kinase that acts as cell-surface receptor for the cytokine KITLG/SCF and plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. In response to KITLG/SCF binding, KIT can activate several signaling pathways. Phosphorylates PIK3R1, PLCG1, SH2B2/APS and CBL. Activates the AKT1 signaling pathway by phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase. Activated KIT also transmits signals via GRB2 and activation of RAS, RAF1 and the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. Promotes activation of STAT family members STAT1, STAT3, STAT5A and STAT5B. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. KIT signaling is modulated by protein phosphatases, and by rapid internalization and degradation of the receptor. Activated KIT promotes phosphorylation of the protein phosphatases PTPN6/SHP-1 and PTPRU, and of the transcription factors STAT1, STAT3, STAT5A and STAT5B. Promotes phosphorylation of PIK3R1, CBL, CRK (isoform Crk-II), LYN, MAPK1/ERK2 and/or MAPK3/ERK1, PLCG1, SRC and SHC1.
Sequence (Fasta)	MRGARGAWDF LCVLLLLLRV QTGSSQPSVS PGEPSPPSIH PGKSDLIVRV GDEIRLLCTD 60 PGFVKWTFEI LDETNENKQN EWITEKAEAT NTGKYTCTNK HGLSNSIYVF VRDPAKLFLV 120 DRSLYGKEDN DTLVRCPLTD PEVTNYSLKG CQGKPLPKDL RFIPDPKAGI MIKSVKRAYH 180 RLCLHCSVDQ EGKSVLSEKF ILKVRPAFKA VPVVSVSKAS YLLREGEEFT VTCTIKDVSS 240 SVYSTWKREN SQTKLQEKYN SWHHGDFNYE RQATLTISSA RVNDSGVFMC YANNTFGSAN 300 VTTTLEVVDK GFINIFPMIN TTVFVNDGEN VDLIVEYEAF PKPEHQQWIY MNRTFTDKWE 360 DYPKSENESN IRYVSELHLT RLKGTEGGTY TFLVSNSDVN AAIAFNVYVN TKPEILTYDR 420 LVNGMLQCVA AGFPEPTIDW YFCPGTEQRC SASVLPVDVQ TLNSSGPPFG KLVVQSSIDS 480 SAFKHNGTVE CKAYNDVGKT SAYFNFAFKG NNKEQIHPHT LFTPLLIGFV IVAGMMCIIV 540 MILTYKYLQK PMYEVQWKVV EEINGNNYVY IDPTQLPYDH KWEFPRNRLS FGKTLGAGAF 600 GKVVEATAYG LIKSDAAMTV AVKMLKPSAH LTEREALMSE LKVLSYLGNH MNIVNLLGAC 660 TIGGPTLVIT EYCCYGDLLN FLRRKRDSFI CSKQEDHAEA ALYKNLLHSK ESSCSDSTNE 720 YMDMKPGVSY VVPTKADKRR SVRIGSYIER DVTPAIMEDD ELALDLEDLL SFSYQVAKGM 780 AFLASKNCIH RDLAARNILL THGRITKICD FGLARDIKND SNYVVKGNAR LPVKWMAPES 840 IFNCVYTFES DVWSYGIFLW ELFSLGSSPY PGMPVDSKFY KMIKEGFRML SPEHAPAEMY 900 DIMKTCWDAD PLKRPTFKQI VQLIEKQISE STNHIYSNLA NCSPNRQKPV VDHSVRINSV 960 GSTASSSQPL LVHDDV 977 Fasta Sequence >P10721\|KIT; SCFR\|Homo sapiens (Human) MRGARGAWDFLCVLLLLLRVQTGSSQPSVSPGEPSPPSIHPGKSDLIVRVGDEIRLLCTDPGFVKWTFEILDETNENKQNEWITEKAEATNTGKYTCTNKHGLSNSIYVFVRDPAKLFLVDRSLYGKEDNDTLVRCPLTDPEVTNYSLKGCQGKPLPKDLRFIPDPKAGIMIKSVKRAYHRLCLHCSVDQEGKSVLSEKFILKVRPAFKAVPVVSVSKASYLLREGEEFTVTCTIKDVSSSVYSTWKRENSQTKLQEKYNSWHHGDFNYERQATLTISSARVNDSGVFMCYANNTFGSANVTTTLEVVDKGFINIFPMINTTVFVNDGENVDLIVEYEAFPKPEHQQWIYMNRTFTDKWEDYPKSENESNIRYVSELHLTRLKGTEGGTYTFLVSNSDVNAAIAFNVYVNTKPEILTYDRLVNGMLQCVAAGFPEPTIDWYFCPGTEQRCSASVLPVDVQTLNSSGPPFGKLVVQSSIDSSAFKHNGTVECKAYNDVGKTSAYFNFAFKGNNKEQIHPHTLFTPLLIGFVIVAGMMCIIVMILTYKYLQKPMYEVQWKVVEEINGNNYVYIDPTQLPYDHKWEFPRNRLSFGKTLGAGAFGKVVEATAYGLIKSDAAMTVAVKMLKPSAHLTEREALMSELKVLSYLGNHMNIVNLLGACTIGGPTLVITEYCCYGDLLNFLRRKRDSFICSKQEDHAEAALYKNLLHSKESSCSDSTNEYMDMKPGVSYVVPTKADKRRSVRIGSYIERDVTPAIMEDDELALDLEDLLSFSYQVAKGMAFLASKNCIHRDLAARNILLTHGRITKICDFGLARDIKNDSNYVVKGNARLPVKWMAPESIFNCVYTFESDVWSYGIFLWELFSLGSSPYPGMPVDSKFYKMIKEGFRMLSPEHAPAEMYDIMKTCWDADPLKRPTFKQIVQLIEKQISESTNHIYSNLANCSPNRQKPVVDHSVRINSVGSTASSSQPLLVHDDV

※ PTM-Disease Association

Num	PTM	Disease	Cell Type	Type	PTM Site	PMID
1	Tyrosine Phosphorylation	Disease		P	Y823	23803604
1	[Reference]: Phosphorylation of the activation loop tyrosine 823 in c-Kit is crucial for cell survival and proliferation

※ Disease Cross-ref Annotation

Database	Annotation
Cancer Gene Census	GIST, AML, TGCT, mastocytosis, mucosal melanoma GIST, epithelioma familial gastrointestinal stromal tumour
CTD (Curated) (count: 13) (view all)	MESH:D001943 ; Breast Neoplasms MESH:D046152 ; Gastrointestinal Stromal Tumors MESH:D008171 ; Lung Diseases MESH:D008415 ; Mastocytosis MESH:D034721 ; Mastocytosis, Systemic MESH:C562839 ; Mesothelioma, Malignant MESH:D015473 ; Leukemia, Promyelocytic, Acute MESH:D009364 ; Neoplasm Recurrence, Local MESH:D018241 ; Neuroectodermal Tumors, Primitive, Peripheral MESH:D002289 ; Carcinoma, Non-Small-Cell Lung MESH:D016116 ; Piebaldism MESH:D055752 ; Small Cell Lung Carcinoma MESH:C563236 ; Testicular Germ Cell Tumor
DisGeNet (Curated) (count: 68) (view all)	C0007131; Non-Small Cell Lung Carcinoma C0009806; Constipation C0010417; Cryptorchidism C0011168; Deglutition Disorders C0011606; Exfoliative dermatitis C0014457; Eosinophilia C0015672; Fatigue C0016382; Flushing C0017181; Gastrointestinal Hemorrhage C0018051; Gonadal Dysgenesis C0018055; Gonadal Dysgenesis, Mixed C0019569; Hirschsprung Disease C0021843; Intestinal Obstruction C0023467; Leukemia, Myelocytic, Acute C0023473; Myeloid Leukemia, Chronic C0023479; Acute myelomonocytic leukemia C0023480; Leukemia, Myelomonocytic, Chronic C0023487; Acute Promyelocytic Leukemia C0024115; Lung diseases C0024899; Mastocytosis C0025160; Megacolon C0027498; Nausea and vomiting C0027643; Neoplasm Recurrence, Local C0033774; Pruritus C0038356; Stomach Neoplasms C0039538; Teratoma C0041834; Erythema C0042109; Urticaria C0080024; Piebaldism C0149925; Small cell carcinoma of lung C0151811; Subcutaneous nodule C0162678; Neurofibromatoses C0162834; Hyperpigmentation C0221013; Mastocytosis, Systemic C0237326; Dyschezia C0238198; Gastrointestinal Stromal Tumors C0241054; Skin bulla C0263402; Telangiectasia macularis eruptiva perstans C0266589; Congenital ear anomaly NOS (disorder) C0332573; Macule C0334008; Pachyderma C0343115; Skin Mastocytoma C0344312; White forelock C0345967; Malignant mesothelioma C0423318; Heterochromia iridis C0426870; Large hand C0544886; Somatic mutation C0684337; Ewings sarcoma-primitive neuroectodermal tumor (PNET) C0687149; Pure gonadal dysgenesis C0746926; Multiple, subcutaneous nodules C1136033; Cutaneous Mastocytosis C1261473; Sarcoma C1301365; Systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease C1336708; Testicular Germ Cell Tumor C1458155; Mammary Neoplasms C1834424; Profuse pigmented skin lesions C1836735; hypopigmented skin patch C1842774; Hyperpigmented macules C1851971; Hypoplastic myelodysplasia C1853237; Isolated cases C1879321; Acute Myeloid Leukemia (AML-M2) C2132198; Abnormal blistering of the skin C2220104; Blister of skin C3463824; MYELODYSPLASTIC SYNDROME C4020813; Increased gastric cancer C4020878; Diffusely thickened skin C4021768; Abnormality of metabolism/homeostasis C4024848; Absent pigmentation of the ventral chest
HGMD (count: 65) (view all)	CD044143; Piebaldism; Small deletions CD931016; Piebaldism; Small deletions CD082144; Gastrointestinal tumour, stromal; Small deletions CD057857; Gastrointestinal tumour, stromal; Small deletions CD044142; Piebaldism; Small deletions CD044144; Piebaldism; Small deletions CD920876; Piebaldism; Small deletions CD054354; Gastrointestinal stromal tumour & mastocytosis; Small deletions CD951757; Piebaldism; Small deletions CD050889; Piebaldism; Small deletions CD982724; Gastrointestinal tumour, stromal; Small deletions CD044145; Piebaldism; Small deletions CD920877; Piebaldism; Small deletions CG910675; Piebaldism; Gross deletions CG952324; Piebaldism; Gross deletions CG952325; Piebaldism; Gross deletions CG952326; Piebaldism; Gross deletions CI050498; Gastrointestinal tumour, stromal; Small insertions CI041197; Piebaldism; Small insertions CI951947; Piebaldism; Small insertions CM960906; Piebaldism; Missense/nonsense CM960907; Piebaldism; Missense/nonsense CM950712; Piebaldism; Missense/nonsense CM050653; Piebaldism; Missense/nonsense CM022030; Piebaldism; Missense/nonsense CM061829; Mastocytosis; Missense/nonsense CM041384; Mastocytosis, diffuse cutaneous; Missense/nonsense CM005329; Gastrointestinal tumour, stromal; Missense/nonsense CM950713; Piebaldism; Missense/nonsense CM013551; Gastrointestinal tumour, stromal; Missense/nonsense CM077194; Gastrointestinal tumour, stromal; Missense/nonsense CM920392; Piebaldism; Missense/nonsense CM002801; Piebaldism; Missense/nonsense CM920393; Piebaldism; Missense/nonsense CM066893; Piebaldism; Missense/nonsense CM002802; Piebaldism; Missense/nonsense CM057992; Piebaldism; Missense/nonsense CM014203; Piebaldism; Missense/nonsense CM950714; Piebaldism; Missense/nonsense CM066894; Piebaldism; Missense/nonsense CM950715; Piebaldism; Missense/nonsense CM002803; Gastrointestinal tumour, stromal; Missense/nonsense CM950716; Piebaldism; Missense/nonsense CM050654; Piebaldism; Missense/nonsense CM002804; Piebaldism; Missense/nonsense CM910246; Piebaldism; Missense/nonsense CM022031; Piebaldism; Missense/nonsense CM931254; Piebaldism; Missense/nonsense CM050655; Piebaldism; Missense/nonsense CM983848; Piebaldism; Missense/nonsense CM931255; Piebaldism; Missense/nonsense CM952169; Mastocytosis with haematologic disorder; Missense/nonsense CM023092; Gastrointestinal tumour, stromal; Missense/nonsense CM087050; Gastrointestinal tumour, stromal; Missense/nonsense CM022032; Piebaldism; Missense/nonsense CM981135; Piebaldism; Missense/nonsense CM057993; Piebaldism; Missense/nonsense CM950717; Piebaldism; Missense/nonsense CM022033; Piebaldism; Missense/nonsense CM044016; Piebaldism; Missense/nonsense CS951456; Piebaldism; Splicing CS920766; Piebaldism; Splicing CS022108; Piebaldism; Splicing CS022109; Piebaldism; Splicing CS050809; Piebaldism; Splicing
GWASdb (count: 2)	rs2855775; Multiple complex diseases; Null rs11735550; Smoking cessation; nicotine dependence

※ PTM Sites

PTM	Modification Sites
Phosphorylation (count: 34) (view all)	215 FKAVPVVSVSKASYL dbPAF 217 AVPVVSVSKASYLLR dbPAF 232 EGEEFTVTCTIKDVS dbPAF 240 CTIKDVSSSVYSTWK dbPAF 241 TIKDVSSSVYSTWKR dbPAF 354 QWIYMNRTFTDKWED dbPAF 362 FTDKWEDYPKSENES dbPAF 488 SAFKHNGTVECKAYN dbPAF 494 GTVECKAYNDVGKTS dbPAF 545 IIVMILTYKYLQKPM dbPAF 547 VMILTYKYLQKPMYE dbPAF 553 KYLQKPMYEVQWKVV dbPAF 568 EEINGNNYVYIDPTQ dbPAF 570 INGNNYVYIDPTQLP dbPAF 578 IDPTQLPYDHKWEFP dbPAF 609 KVVEATAYGLIKSDA dbPAF 703 DHAEAALYKNLLHSK dbPAF 718 ESSCSDSTNEYMDMK dbPAF 721 CSDSTNEYMDMKPGV dbPAF 729 MDMKPGVSYVVPTKA dbPAF 730 DMKPGVSYVVPTKAD dbPAF 741 TKADKRRSVRIGSYI dbPAF 746 RRSVRIGSYIERDVT dbPAF 747 RSVRIGSYIERDVTP dbPAF 801 AARNILLTHGRITKI dbPAF 821 ARDIKNDSNYVVKGN dbPAF 823 DIKNDSNYVVKGNAR dbPAF 891 KEGFRMLSPEHAPAE dbPAF 900 EHAPAEMYDIMKTCW dbPAF 931 IEKQISESTNHIYSN dbPAF 936 SESTNHIYSNLANCS dbPAF 937 ESTNHIYSNLANCSP dbPAF 943 YSNLANCSPNRQKPV dbPAF 959 DHSVRINSVGSTASS dbPAF
Sumoylation (count: 1)	173 PKAGIMIKSVKRAYH PLMD
Glycation (count: 2)	209 LKVRPAFKAVPVVSV PLMD 499 KAYNDVGKTSAYFNF PLMD

※ Protein-Protein Interaction

Network

Interaction

Source

G3V0F8	P10721	HPRD
G5E9R1	P10721	HPRD
O00459	P10721	HPRD
O14492	P10721	HPRD
O14544	P10721	HPRD
O15524	P10721	HPRD
O60674	P10721	HPRD
O75159	P10721	HPRD
O75791	P10721	HPRD
O75970	P10721	HPRD
P00519	P10721	HPRD
P05771	P10721	HPRD
P06239	P10721	HPRD
P06241	P10721	HPRD
P07947	P10721	HPRD
P07948	P10721	HPRD
P08631	P10721	HPRD
P10721	P10721	HPRD
P10721	P12931	HPRD
P10721	P15509	HPRD
P10721	P17252	HPRD
P10721	P19174	HPRD
P10721	P19235	HPRD
P10721	P20936	HPRD
P10721	P21583	HPRD; IntAct
P10721	P21926	HPRD
P10721	P22681	HPRD
P10721	P27986	HPRD
P10721	P32927	HPRD
P10721	P42224	HPRD
P10721	P42229	HPRD
P10721	P42679	HPRD
P10721	P42680	HPRD
P10721	P46108	HPRD
P10721	P46109	HPRD
P10721	P48736	HPRD
P10721	P51692	HPRD
P10721	P60033	HPRD
P10721	P62993	HPRD; DIP; IntAct
P10721	Q00610	HPRD
P10721	Q06124	HPRD
P10721	Q06187	HPRD
P10721	Q12913	IntAct
P10721	Q13191	HPRD
P10721	Q13322	HPRD
P10721	Q13588	HPRD
P10721	Q14451	HPRD
P10721	Q16827	HPRD
P10721	Q7Z698	HPRD
P10721	Q7Z699	HPRD
P10721	Q92729	HPRD; MINT
P10721	Q92835	HPRD
P10721	Q99704	HPRD
P10721	Q9P212	HPRD
P10721	Q9ULZ2	HPRD
P10721	Q9UQQ2	HPRD

PTMD Annotation Information

※ Protein Information

Functional Description

Fasta Sequence

※ PTM-Disease Association

※ Disease Cross-ref Annotation

※ PTM Sites

※ Protein-Protein Interaction