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KIT англ KIT proto oncogene receptor tyrosine kinase білок який кодується однойменним геном розташованим у людей на коро

KIT

KIT

KIT (англ. KIT proto-oncogene receptor tyrosine kinase) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 4-ї хромосоми. Довжина поліпептидного ланцюга білка становить 976 амінокислот, а молекулярна маса — 109 865.

KIT
image
Наявні структури
PDBПошук ортологів: PDBe RCSB
Ідентифікатори
Символи KIT, C-Kit, CD117, PBT, SCFR, KIT proto-oncogene receptor tyrosine kinase, MASTC, KIT proto-oncogene, receptor tyrosine kinase
Зовнішні ІД OMIM: 164920 MGI: 96677 HomoloGene: 187 GeneCards: KIT
Пов'язані генетичні захворювання
piebaldism, gastrointestinal stromal tumor, гострий мієлоїдний лейкоз, indolent systemic mastocytosis, Telangiectasia macularis eruptiva perstans
Реагує на сполуку
cediranib, crenolanib, linifanib, Масітиніб, Пазопаніб, semaxanib, сорафеніб, сунітиніб, іматиніб, Масітиніб, amuvatinib, enmd-981693, famitinib, MLN-518, imatinib mesylate
Ортологи
Види Людина Миша
Entrez
3815
16590
Ensembl
ENSG00000157404
ENSMUSG00000005672
UniProt
P10721
P05532
RefSeq (мРНК)
NM_000222
NM_001093772
NM_001122733
NM_021099
RefSeq (білок)
NP_000213
NP_001087241
NP_001116205
NP_066922
Локус (UCSC) Хр. 4: 54.66 – 54.74 Mb Хр. 5: 75.74 – 75.82 Mb
PubMed search
Вікідані
Див./Ред. для людейДив./Ред. для мишей
Послідовність амінокислот
1020304050
MRGARGAWDFLCVLLLLLRVQTGSSQPSVSPGEPSPPSIHPGKSDLIVRV
GDEIRLLCTDPGFVKWTFEILDETNENKQNEWITEKAEATNTGKYTCTNK
HGLSNSIYVFVRDPAKLFLVDRSLYGKEDNDTLVRCPLTDPEVTNYSLKG
CQGKPLPKDLRFIPDPKAGIMIKSVKRAYHRLCLHCSVDQEGKSVLSEKF
ILKVRPAFKAVPVVSVSKASYLLREGEEFTVTCTIKDVSSSVYSTWKREN
SQTKLQEKYNSWHHGDFNYERQATLTISSARVNDSGVFMCYANNTFGSAN
VTTTLEVVDKGFINIFPMINTTVFVNDGENVDLIVEYEAFPKPEHQQWIY
MNRTFTDKWEDYPKSENESNIRYVSELHLTRLKGTEGGTYTFLVSNSDVN
AAIAFNVYVNTKPEILTYDRLVNGMLQCVAAGFPEPTIDWYFCPGTEQRC
SASVLPVDVQTLNSSGPPFGKLVVQSSIDSSAFKHNGTVECKAYNDVGKT
SAYFNFAFKGNNKEQIHPHTLFTPLLIGFVIVAGMMCIIVMILTYKYLQK
PMYEVQWKVVEEINGNNYVYIDPTQLPYDHKWEFPRNRLSFGKTLGAGAF
GKVVEATAYGLIKSDAAMTVAVKMLKPSAHLTEREALMSELKVLSYLGNH
MNIVNLLGACTIGGPTLVITEYCCYGDLLNFLRRKRDSFICSKQEDHAEA
ALYKNLLHSKESSCSDSTNEYMDMKPGVSYVVPTKADKRRSVRIGSYIER
DVTPAIMEDDELALDLEDLLSFSYQVAKGMAFLASKNCIHRDLAARNILL
THGRITKICDFGLARDIKNDSNYVVKGNARLPVKWMAPESIFNCVYTFES
DVWSYGIFLWELFSLGSSPYPGMPVDSKFYKMIKEGFRMLSPEHAPAEMY
DIMKTCWDADPLKRPTFKQIVQLIEKQISESTNHIYSNLANCSPNRQKPV
VDHSVRINSVGSTASSSQPLLVHDDV

Кодований геном білок за функціями належить до трансфераз, кіназ, рецепторів, тирозинових протеїнкіназ, фосфопротеїнів. Задіяний у таких біологічних процесах як поліморфізм, альтернативний сплайсинг. Білок має сайт для зв'язування з АТФ, нуклеотидами, іонами металів, іоном магнію. Локалізований у клітинній мембрані, цитоплазмі, мембрані.

Література

  • The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 14: 2121—2127. 2004. PMID 15489334 DOI:10.1101/gr.2596504
  • Yamamoto K., Tojo A., Aoki N., Shibuya M. (1993). Characterization of the promoter region of the human c-kit proto-oncogene. Jpn. J. Cancer Res. 84: 1136—1144. PMID 7506248 DOI:10.1111/j.1349-7006.1993.tb02813.x
  • Blume-Jensen P., Wernstedt C., Heldin C.H., Ronnstrand L. (1995). Identification of the major phosphorylation sites for protein kinase C in kit/stem cell factor receptor in vitro and in intact cells. J. Biol. Chem. 270: 14192—14200. PMID 7539802 DOI:10.1074/jbc.270.23.14192
  • Linnekin D., DeBerry C.S., Mou S. (1997). Lyn associates with the juxtamembrane region of c-Kit and is activated by stem cell factor in hematopoietic cell lines and normal progenitor cells. J. Biol. Chem. 272: 27450—27455. PMID 9341198 DOI:10.1074/jbc.272.43.27450
  • Thommes K., Lennartsson J., Carlberg M., Ronnstrand L. (1999). Identification of Tyr-703 and Tyr-936 as the primary association sites for Grb2 and Grb7 in the c-Kit/stem cell factor receptor. Biochem. J. 341: 211—216. PMID 10377264 DOI:10.1042/bj3410211
  • Mancini A., Koch A., Stefan M., Niemann H., Tamura T. (2000). The direct association of the multiple PDZ domain containing proteins (MUPP-1) with the human c-Kit C-terminus is regulated by tyrosine kinase activity. FEBS Lett. 482: 54—58. PMID 11018522 DOI:10.1016/S0014-5793(00)02036-6

Примітки

  1. Захворювання, генетично пов'язані з KIT переглянути/редагувати посилання на ВікіДаних.
  2. Сполуки, які фізично взаємодіють з KIT переглянути/редагувати посилання на ВікіДаних.
  3. Human PubMed Reference:.
  4. Mouse PubMed Reference:.
  5. HUGO Gene Nomenclature Commitee, HGNC:6342 (англ.) . Процитовано 30 серпня 2017.
  6. (англ.) . Архів оригіналу за 26 серпня 2017. Процитовано 30 серпня 2017.

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KIT angl KIT proto oncogene receptor tyrosine kinase bilok yakij koduyetsya odnojmennim genom roztashovanim u lyudej na korotkomu plechi 4 yi hromosomi Dovzhina polipeptidnogo lancyuga bilka stanovit 976 aminokislot a molekulyarna masa 109 865 KITNayavni strukturiPDBPoshuk ortologiv PDBe RCSBSpisok kodiv PDB4U0I 1PKG 1T45 1T46 2E9W 2EC8 2VIF 3G0E 3G0F 4HVS 4K94 4K9E 4PGZ 2IUHIdentifikatoriSimvoliKIT C Kit CD117 PBT SCFR KIT proto oncogene receptor tyrosine kinase MASTC KIT proto oncogene receptor tyrosine kinaseZovnishni ID OMIM 164920 MGI 96677 HomoloGene 187 GeneCards KITPov yazani genetichni zahvoryuvannyapiebaldism gastrointestinal stromal tumor gostrij miyeloyidnij lejkoz indolent systemic mastocytosis Telangiectasia macularis eruptiva perstansReaguye na spolukucediranib crenolanib linifanib Masitinib Pazopanib semaxanib sorafenib sunitinib imatinib Masitinib amuvatinib enmd 981693 famitinib MLN 518 imatinib mesylateOntologiya genaMolekulyarna funkciya stem cell factor receptor activity kinase activity transmembrane receptor protein tyrosine kinase activity ATP binding GO 0019974 cytokine binding protein kinase activity zv yazuvannya z ionom metalu transferase activity protein homodimerization activity protease binding GO 0001948 GO 0016582 protein binding protein tyrosine kinase activity nucleotide binding phosphatidylinositol 4 5 bisphosphate 3 kinase activity receptor tyrosine kinase transmembrane signaling receptor activity SH2 domain bindingKlitinna komponenta citoplazma membrana cell cell junction cytoplasmic side of plasma membrane cell surface integral component of membrane Akrosoma external side of plasma membrane mast cell granule mizhklitinnij prostir klitinna membrana integral component of plasma membrane receptor complexBiologichnij proces melanocyte migration myeloid progenitor cell differentiation positive regulation of MAP kinase activity glycosphingolipid metabolic process positive regulation of phospholipase C activity hematopoietic stem cell migration stem cell population maintenance protein phosphorylation T cell differentiation Spermatogenez cell chemotaxis developmental pigmentation melanocyte differentiation positive regulation of Notch signaling pathway lamellipodium assembly cytokine mediated signaling pathway transmembrane receptor protein tyrosine kinase signaling pathway melanocyte adhesion lymphoid progenitor cell differentiation spermatid development erythrocyte differentiation negative regulation of programmed cell death protein autophosphorylation mast cell degranulation inflammatory response positive regulation of MAPK cascade myeloid leukocyte differentiation male gonad development fosforilyuvannya positive regulation of DNA binding transcription factor activity epithelial cell proliferation stem cell differentiation detection of mechanical stimulus involved in sensory perception of sound regulation of cell shape ovarian follicle development ectopic germ cell programmed cell death pigmentation Fc receptor signaling pathway response to radiation mast cell cytokine production positive regulation of receptor signaling pathway via JAK STAT dendritic cell cytokine production visual learning actin cytoskeleton reorganization megakaryocyte development GO 0007243 intracellular signal transduction somatic stem cell population maintenance erythropoietin mediated signaling pathway Kit signaling pathway positive regulation of cell migration somatic stem cell division mast cell chemotaxis MAPK cascade positive regulation of phosphatidylinositol 3 kinase activity positive regulation of pseudopodium assembly GO 1901313 positive regulation of gene expression positive regulation of long term neuronal synaptic plasticity regulation of cell population proliferation cellular response to thyroid hormone stimulus positive regulation of cell population proliferation embryonic hemopoiesis regulation of developmental pigmentation positive regulation of phosphatidylinositol 3 kinase signaling peptidyl tyrosine phosphorylation mast cell differentiation digestive tract development immature B cell differentiation germ cell migration GO 0072468 signalna transdukciya mast cell proliferation positive regulation of vascular associated smooth muscle cell differentiation phosphatidylinositol phosphate biosynthetic process GO 0044324 GO 0003256 GO 1901213 GO 0046019 GO 0046020 GO 1900094 GO 0061216 GO 0060994 GO 1902064 GO 0003258 GO 0072212 regulation of transcription by RNA polymerase II positive regulation of tyrosine phosphorylation of STAT protein tongue development response to cadmium ion positive regulation of pyloric antrum smooth muscle contraction regulation of bile acid metabolic process positive regulation of small intestine smooth muscle contraction positive regulation of colon smooth muscle contraction positive regulation of protein kinase B signaling krovotvorennya negative regulation of signal transduction diferenciaciya klitin negative regulation of apoptotic process positive regulation of ERK1 and ERK2 cascade hematopoietic progenitor cell differentiation B cell differentiationDzherela Amigo QuickGOOrtologiVidi Lyudina MishaEntrez3815 16590Ensembl ENSG00000157404 ENSMUSG00000005672UniProt P10721 P05532RefSeq mRNK NM 000222 NM 001093772NM 001122733 NM 021099RefSeq bilok NP 000213 NP 001087241NP 001116205 NP 066922Lokus UCSC Hr 4 54 66 54 74 MbHr 5 75 74 75 82 MbPubMed searchVikidaniDiv Red dlya lyudejDiv Red dlya mishejPoslidovnist aminokislot1020304050MRGARGAWDFLCVLLLLLRVQTGSSQPSVSPGEPSPPSIHPGKSDLIVRVGDEIRLLCTDPGFVKWTFEILDETNENKQNEWITEKAEATNTGKYTCTNKHGLSNSIYVFVRDPAKLFLVDRSLYGKEDNDTLVRCPLTDPEVTNYSLKGCQGKPLPKDLRFIPDPKAGIMIKSVKRAYHRLCLHCSVDQEGKSVLSEKFILKVRPAFKAVPVVSVSKASYLLREGEEFTVTCTIKDVSSSVYSTWKRENSQTKLQEKYNSWHHGDFNYERQATLTISSARVNDSGVFMCYANNTFGSANVTTTLEVVDKGFINIFPMINTTVFVNDGENVDLIVEYEAFPKPEHQQWIYMNRTFTDKWEDYPKSENESNIRYVSELHLTRLKGTEGGTYTFLVSNSDVNAAIAFNVYVNTKPEILTYDRLVNGMLQCVAAGFPEPTIDWYFCPGTEQRCSASVLPVDVQTLNSSGPPFGKLVVQSSIDSSAFKHNGTVECKAYNDVGKTSAYFNFAFKGNNKEQIHPHTLFTPLLIGFVIVAGMMCIIVMILTYKYLQKPMYEVQWKVVEEINGNNYVYIDPTQLPYDHKWEFPRNRLSFGKTLGAGAFGKVVEATAYGLIKSDAAMTVAVKMLKPSAHLTEREALMSELKVLSYLGNHMNIVNLLGACTIGGPTLVITEYCCYGDLLNFLRRKRDSFICSKQEDHAEAALYKNLLHSKESSCSDSTNEYMDMKPGVSYVVPTKADKRRSVRIGSYIERDVTPAIMEDDELALDLEDLLSFSYQVAKGMAFLASKNCIHRDLAARNILLTHGRITKICDFGLARDIKNDSNYVVKGNARLPVKWMAPESIFNCVYTFESDVWSYGIFLWELFSLGSSPYPGMPVDSKFYKMIKEGFRMLSPEHAPAEMYDIMKTCWDADPLKRPTFKQIVQLIEKQISESTNHIYSNLANCSPNRQKPVVDHSVRINSVGSTASSSQPLLVHDDVA Alanin C Cisteyin D Asparaginova kislota E Glutaminova kislota F Fenilalanin G Glicin H Gistidin I Izolejcin K Lizin L Lejcin M Metionin N Asparagin P Prolin Q Glutamin R Arginin S Serin T Treonin V Valin W Triptofan Y Tirozin Kodovanij genom bilok za funkciyami nalezhit do transferaz kinaz receptoriv tirozinovih proteyinkinaz fosfoproteyiniv Zadiyanij u takih biologichnih procesah yak polimorfizm alternativnij splajsing Bilok maye sajt dlya zv yazuvannya z ATF nukleotidami ionami metaliv ionom magniyu Lokalizovanij u klitinnij membrani citoplazmi membrani LiteraturaThe status quality and expansion of the NIH full length cDNA project the Mammalian Gene Collection MGC Genome Res 14 2121 2127 2004 PMID 15489334 DOI 10 1101 gr 2596504 Yamamoto K Tojo A Aoki N Shibuya M 1993 Characterization of the promoter region of the human c kit proto oncogene Jpn J Cancer Res 84 1136 1144 PMID 7506248 DOI 10 1111 j 1349 7006 1993 tb02813 x Blume Jensen P Wernstedt C Heldin C H Ronnstrand L 1995 Identification of the major phosphorylation sites for protein kinase C in kit stem cell factor receptor in vitro and in intact cells J Biol Chem 270 14192 14200 PMID 7539802 DOI 10 1074 jbc 270 23 14192 Linnekin D DeBerry C S Mou S 1997 Lyn associates with the juxtamembrane region of c Kit and is activated by stem cell factor in hematopoietic cell lines and normal progenitor cells J Biol Chem 272 27450 27455 PMID 9341198 DOI 10 1074 jbc 272 43 27450 Thommes K Lennartsson J Carlberg M Ronnstrand L 1999 Identification of Tyr 703 and Tyr 936 as the primary association sites for Grb2 and Grb7 in the c Kit stem cell factor receptor Biochem J 341 211 216 PMID 10377264 DOI 10 1042 bj3410211 Mancini A Koch A Stefan M Niemann H Tamura T 2000 The direct association of the multiple PDZ domain containing proteins MUPP 1 with the human c Kit C terminus is regulated by tyrosine kinase activity FEBS Lett 482 54 58 PMID 11018522 DOI 10 1016 S0014 5793 00 02036 6PrimitkiZahvoryuvannya genetichno pov yazani z KIT pereglyanuti redaguvati posilannya na VikiDanih Spoluki yaki fizichno vzayemodiyut z KIT pereglyanuti redaguvati posilannya na VikiDanih Human PubMed Reference Mouse PubMed Reference HUGO Gene Nomenclature Commitee HGNC 6342 angl Procitovano 30 serpnya 2017 angl Arhiv originalu za 26 serpnya 2017 Procitovano 30 serpnya 2017 Div takozhHromosoma 4Ce nezavershena stattya pro bilki Vi mozhete dopomogti proyektu vipravivshi abo dopisavshi yiyi

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