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ATM англ ATM serine threonine kinase білок який кодується однойменним геном розташованим у людей на короткому плечі 11 ї

ATM (ген)

ATM (ген)

ATM (англ. ATM serine/threonine kinase) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 11-ї хромосоми. Довжина поліпептидного ланцюга білка становить 3 056 амінокислот, а молекулярна маса — 350 687.

ATM
image
Ідентифікатори
Символи ATM, ATM serine/threonine kinase, AT1, ATA, ATC, ATD, ATDC, ATE, TEL1, TELO1, ataxia-telangiectasia mutated
Зовнішні ІД OMIM: 607585 MGI: 107202 HomoloGene: 30952 GeneCards: ATM
Пов'язані генетичні захворювання
меланома, Атаксія телеангіектазія, disease of cellular proliferation
Ортологи
Види Людина Миша
Entrez
472
11920
Ensembl
ENSG00000149311
ENSMUSG00000034218
UniProt
Q13315
Q62388
RefSeq (мРНК)
NM_007499
RefSeq (білок)
NP_000042
NP_001338763
NP_001338764
NP_001338765
NP_000042.3
NP_031525
Локус (UCSC) Хр. 11: 108.22 – 108.37 Mb Хр. 9: 53.35 – 53.45 Mb
PubMed search
Вікідані
Див./Ред. для людейДив./Ред. для мишей
Послідовність амінокислот
1020304050
MSLVLNDLLICCRQLEHDRATERKKEVEKFKRLIRDPETIKHLDRHSDSK
QGKYLNWDAVFRFLQKYIQKETECLRIAKPNVSASTQASRQKKMQEISSL
VKYFIKCANRRAPRLKCQELLNYIMDTVKDSSNGAIYGADCSNILLKDIL
SVRKYWCEISQQQWLELFSVYFRLYLKPSQDVHRVLVARIIHAVTKGCCS
QTDGLNSKFLDFFSKAIQCARQEKSSSGLNHILAALTIFLKTLAVNFRIR
VCELGDEILPTLLYIWTQHRLNDSLKEVIIELFQLQIYIHHPKGAKTQEK
GAYESTKWRSILYNLYDLLVNEISHIGSRGKYSSGFRNIAVKENLIELMA
DICHQVFNEDTRSLEISQSYTTTQRESSDYSVPCKRKKIELGWEVIKDHL
QKSQNDFDLVPWLQIATQLISKYPASLPNCELSPLLMILSQLLPQQRHGE
RTPYVLRCLTEVALCQDKRSNLESSQKSDLLKLWNKIWCITFRGISSEQI
QAENFGLLGAIIQGSLVEVDREFWKLFTGSACRPSCPAVCCLTLALTTSI
VPGTVKMGIEQNMCEVNRSFSLKESIMKWLLFYQLEGDLENSTEVPPILH
SNFPHLVLEKILVSLTMKNCKAAMNFFQSVPECEHHQKDKEELSFSEVEE
LFLQTTFDKMDFLTIVRECGIEKHQSSIGFSVHQNLKESLDRCLLGLSEQ
LLNNYSSEITNSETLVRCSRLLVGVLGCYCYMGVIAEEEAYKSELFQKAK
SLMQCAGESITLFKNKTNEEFRIGSLRNMMQLCTRCLSNCTKKSPNKIAS
GFFLRLLTSKLMNDIADICKSLASFIKKPFDRGEVESMEDDTNGNLMEVE
DQSSMNLFNDYPDSSVSDANEPGESQSTIGAINPLAEEYLSKQDLLFLDM
LKFLCLCVTTAQTNTVSFRAADIRRKLLMLIDSSTLEPTKSLHLHMYLML
LKELPGEEYPLPMEDVLELLKPLSNVCSLYRRDQDVCKTILNHVLHVVKN
LGQSNMDSENTRDAQGQFLTVIGAFWHLTKERKYIFSVRMALVNCLKTLL
EADPYSKWAILNVMGKDFPVNEVFTQFLADNHHQVRMLAAESINRLFQDT
KGDSSRLLKALPLKLQQTAFENAYLKAQEGMREMSHSAENPETLDEIYNR
KSVLLTLIAVVLSCSPICEKQALFALCKSVKENGLEPHLVKKVLEKVSET
FGYRRLEDFMASHLDYLVLEWLNLQDTEYNLSSFPFILLNYTNIEDFYRS
CYKVLIPHLVIRSHFDEVKSIANQIQEDWKSLLTDCFPKILVNILPYFAY
EGTRDSGMAQQRETATKVYDMLKSENLLGKQIDHLFISNLPEIVVELLMT
LHEPANSSASQSTDLCDFSGDLDPAPNPPHFPSHVIKATFAYISNCHKTK
LKSILEILSKSPDSYQKILLAICEQAAETNNVYKKHRILKIYHLFVSLLL
KDIKSGLGGAWAFVLRDVIYTLIHYINQRPSCIMDVSLRSFSLCCDLLSQ
VCQTAVTYCKDALENHLHVIVGTLIPLVYEQVEVQKQVLDLLKYLVIDNK
DNENLYITIKLLDPFPDHVVFKDLRITQQKIKYSRGPFSLLEEINHFLSV
SVYDALPLTRLEGLKDLRRQLELHKDQMVDIMRASQDNPQDGIMVKLVVN
LLQLSKMAINHTGEKEVLEAVGSCLGEVGPIDFSTIAIQHSKDASYTKAL
KLFEDKELQWTFIMLTYLNNTLVEDCVKVRSAAVTCLKNILATKTGHSFW
EIYKMTTDPMLAYLQPFRTSRKKFLEVPRFDKENPFEGLDDINLWIPLSE
NHDIWIKTLTCAFLDSGGTKCEILQLLKPMCEVKTDFCQTVLPYLIHDIL
LQDTNESWRNLLSTHVQGFFTSCLRHFSQTSRSTTPANLDSESEHFFRCC
LDKKSQRTMLAVVDYMRRQKRPSSGTIFNDAFWLDLNYLEVAKVAQSCAA
HFTALLYAEIYADKKSMDDQEKRSLAFEEGSQSTTISSLSEKSKEETGIS
LQDLLLEIYRSIGEPDSLYGCGGGKMLQPITRLRTYEHEAMWGKALVTYD
LETAIPSSTRQAGIIQALQNLGLCHILSVYLKGLDYENKDWCPELEELHY
QAAWRNMQWDHCTSVSKEVEGTSYHESLYNALQSLRDREFSTFYESLKYA
RVKEVEEMCKRSLESVYSLYPTLSRLQAIGELESIGELFSRSVTHRQLSE
VYIKWQKHSQLLKDSDFSFQEPIMALRTVILEILMEKEMDNSQRECIKDI
LTKHLVELSILARTFKNTQLPERAIFQIKQYNSVSCGVSEWQLEEAQVFW
AKKEQSLALSILKQMIKKLDASCAANNPSLKLTYTECLRVCGNWLAETCL
ENPAVIMQTYLEKAVEVAGNYDGESSDELRNGKMKAFLSLARFSDTQYQR
IENYMKSSEFENKQALLKRAKEEVGLLREHKIQTNRYTVKVQRELELDEL
ALRALKEDRKRFLCKAVENYINCLLSGEEHDMWVFRLCSLWLENSGVSEV
NGMMKRDGMKIPTYKFLPLMYQLAARMGTKMMGGLGFHEVLNNLISRISM
DHPHHTLFIILALANANRDEFLTKPEVARRSRITKNVPKQSSQLDEDRTE
AANRIICTIRSRRPQMVRSVEALCDAYIILANLDATQWKTQRKGINIPAD
QPITKLKNLEDVVVPTMEIKVDHTGEYGNLVTIQSFKAEFRLAGGVNLPK
IIDCVGSDGKERRQLVKGRDDLRQDAVMQQVFQMCNTLLQRNTETRKRKL
TICTYKVVPLSQRSGVLEWCTGTVPIGEFLVNNEDGAHKRYRPNDFSAFQ
CQKKMMEVQKKSFEEKYEVFMDVCQNFQPVFRYFCMEKFLDPAIWFEKRL
AYTRSVATSSIVGYILGLGDRHVQNILINEQSAELVHIDLGVAFEQGKIL
PTPETVPFRLTRDIVDGMGITGVEGVFRRCCEKTMEVMRNSQETLLTIVE
VLLYDPLFDWTMNPLKALYLQQRPEDETELHPTLNADDQECKRNLSDIDQ
SFNKVAERVLMRLQEKLKGVEEGTVLSVGGQVNLLIQQAIDPKNLSRLFP
GWKAWV

Кодований геном білок за функціями належить до трансфераз, кіназ, серин/треонінових протеїнкіназ, фосфопротеїнів. Задіяний у таких біологічних процесах, як клітинний цикл, пошкодження ДНК, ацетилювання. Білок має сайт для зв'язування з АТФ, нуклеотидами, ДНК. Локалізований у ядрі, цитоплазматичних везикулах.

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
  • Chen G., Lee E.Y.-H.P. (1996). The product of the ATM gene is a 370-kDa nuclear phosphoprotein. J. Biol. Chem. 271: 33693—33697. PMID 8969240 DOI:10.1074/jbc.271.52.33693
  • Cortez D., Wang Y., Qin J., Elledge S.J. (1999). Requirement of ATM-dependent phosphorylation of brca1 in the DNA damage response to double-strand breaks. Science. 286: 1162—1166. PMID 10550055 DOI:10.1126/science.286.5442.1162
  • Bakkenist C.J., Kastan M.B. (2003). DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation. Nature. 421: 499—506. PMID 12556884 DOI:10.1038/nature01368
  • Kaygun H., Marzluff W.F. (2005). Regulated degradation of replication-dependent histone mRNAs requires both ATR and Upf1. Nat. Struct. Mol. Biol. 12: 794—800. PMID 16086026 DOI:10.1038/nsmb972
  • Sun Y., Jiang X., Chen S., Fernandes N., Price B.D. (2005). A role for the Tip60 histone acetyltransferase in the acetylation and activation of ATM. Proc. Natl. Acad. Sci. U.S.A. 102: 13182—13187. PMID 16141325 DOI:10.1073/pnas.0504211102

Примітки

  1. Захворювання, генетично пов'язані з ATM переглянути/редагувати посилання на ВікіДаних.
  2. Human PubMed Reference:.
  3. Mouse PubMed Reference:.
  4. (англ.) . Архів оригіналу за 26 вересня 2015. Процитовано 8 вересня 2017.
  5. (англ.) . Архів оригіналу за 7 вересня 2017. Процитовано 8 вересня 2017.

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ATM angl ATM serine threonine kinase bilok yakij koduyetsya odnojmennim genom roztashovanim u lyudej na korotkomu plechi 11 yi hromosomi Dovzhina polipeptidnogo lancyuga bilka stanovit 3 056 aminokislot a molekulyarna masa 350 687 ATMIdentifikatoriSimvoliATM ATM serine threonine kinase AT1 ATA ATC ATD ATDC ATE TEL1 TELO1 ataxia telangiectasia mutatedZovnishni ID OMIM 607585 MGI 107202 HomoloGene 30952 GeneCards ATMPov yazani genetichni zahvoryuvannyamelanoma Ataksiya teleangiektaziya disease of cellular proliferation Ontologiya genaMolekulyarna funkciya transferase activity DNA binding nucleotide binding protein kinase activity DNA dependent protein kinase activity protein dimerization activity protein N terminus binding 1 phosphatidylinositol 3 kinase activity kinase activity protein serine threonine kinase activity GO 0001948 GO 0016582 protein binding ATP binding GO 0032403 protein containing complex bindingKlitinna komponenta citoplazma DNA repair complex vereteno podilu nukleoplazma telomera GO 0016023 cytoplasmic vesicle klitinne yadro yaderceBiologichnij proces somitogenesis response to ionizing radiation neuron apoptotic process reciprocal meiotic recombination DNA damage response signal transduction by p53 class mediator resulting in cell cycle arrest response to hypoxia female gamete generation determination of adult lifespan fosforilyuvannya establishment of protein containing complex localization to telomere meiotic telomere clustering peptidyl serine autophosphorylation DNA damage checkpoint signaling regulation of telomerase activity positive regulation of telomerase catalytic core complex assembly positive regulation of telomere maintenance via telomerase positive regulation of neuron death mitotic spindle assembly checkpoint signaling oocyte development lipoprotein catabolic process regulation of cell cycle protein phosphorylation heart development brain development positive regulation of neuron apoptotic process negative regulation of telomere capping positive regulation of telomere maintenance via telomere lengthening GO 0035404 peptidyl serine phosphorylation cellular response to gamma radiation intrinsic apoptotic signaling pathway in response to DNA damage V D J rekombinaciya positive regulation of apoptotic process regulation of cellular response to heat pre B cell allelic exclusion klitinnij cikl histone mRNA catabolic process cellular response to nitrosative stress positive regulation of DNA damage response signal transduction by p53 class mediator double strand break repair via nonhomologous end joining negative regulation of B cell proliferation GO 0072468 signalna transdukciya establishment of RNA localization to telomere GO 0097285 apoptoz replikaciya DNK DNA double strand break processing regulation of signal transduction by p53 class mediator regulation of autophagy phosphatidylinositol 3 phosphate biosynthetic process cellular response to X ray double strand break repair via homologous recombination regulation of apoptotic process negative regulation of TORC1 signaling ovarian follicle development proces imunnoyi sistemi immunoglobulin production DNA damage induced protein phosphorylation male meiotic nuclear division female meiotic nuclear division female gonad development post embryonic development multicellular organism growth protein autophosphorylation thymus development GO 0051178 chromosome organization involved in meiotic cell cycle GO 0100026 Reparaciya DNK cellular response to DNA damage stimulus regulation of telomere maintenance via telomerase positive regulation of DNA catabolic process regulation of microglial cell activation regulation of cellular response to gamma radiation positive regulation of response to DNA damage stimulus telomere maintenance replicative senescence GO 1901313 positive regulation of gene expression positive regulation of cell migration positive regulation of cell adhesion GO 0003257 GO 0010735 GO 1901228 GO 1900622 GO 1904488 positive regulation of transcription by RNA polymerase II cellular response to retinoic acidDzherela Amigo QuickGOOrtologiVidi Lyudina MishaEntrez472 11920Ensembl ENSG00000149311 ENSMUSG00000034218UniProt Q13315 Q62388RefSeq mRNK NM 000051 NM 138292 NM 138293 NM 001351834 NM 001351835NM 001351836NM 007499RefSeq bilok NP 000042 NP 001338763 NP 001338764 NP 001338765 NP 000042 3NP 031525Lokus UCSC Hr 11 108 22 108 37 MbHr 9 53 35 53 45 MbPubMed searchVikidaniDiv Red dlya lyudejDiv Red dlya mishej Poslidovnist aminokislot1020304050 MSLVLNDLLICCRQLEHDRATERKKEVEKFKRLIRDPETIKHLDRHSDSK QGKYLNWDAVFRFLQKYIQKETECLRIAKPNVSASTQASRQKKMQEISSL VKYFIKCANRRAPRLKCQELLNYIMDTVKDSSNGAIYGADCSNILLKDIL SVRKYWCEISQQQWLELFSVYFRLYLKPSQDVHRVLVARIIHAVTKGCCS QTDGLNSKFLDFFSKAIQCARQEKSSSGLNHILAALTIFLKTLAVNFRIR VCELGDEILPTLLYIWTQHRLNDSLKEVIIELFQLQIYIHHPKGAKTQEK GAYESTKWRSILYNLYDLLVNEISHIGSRGKYSSGFRNIAVKENLIELMA DICHQVFNEDTRSLEISQSYTTTQRESSDYSVPCKRKKIELGWEVIKDHL QKSQNDFDLVPWLQIATQLISKYPASLPNCELSPLLMILSQLLPQQRHGE RTPYVLRCLTEVALCQDKRSNLESSQKSDLLKLWNKIWCITFRGISSEQI QAENFGLLGAIIQGSLVEVDREFWKLFTGSACRPSCPAVCCLTLALTTSI VPGTVKMGIEQNMCEVNRSFSLKESIMKWLLFYQLEGDLENSTEVPPILH SNFPHLVLEKILVSLTMKNCKAAMNFFQSVPECEHHQKDKEELSFSEVEE LFLQTTFDKMDFLTIVRECGIEKHQSSIGFSVHQNLKESLDRCLLGLSEQ LLNNYSSEITNSETLVRCSRLLVGVLGCYCYMGVIAEEEAYKSELFQKAK SLMQCAGESITLFKNKTNEEFRIGSLRNMMQLCTRCLSNCTKKSPNKIAS GFFLRLLTSKLMNDIADICKSLASFIKKPFDRGEVESMEDDTNGNLMEVE DQSSMNLFNDYPDSSVSDANEPGESQSTIGAINPLAEEYLSKQDLLFLDM LKFLCLCVTTAQTNTVSFRAADIRRKLLMLIDSSTLEPTKSLHLHMYLML LKELPGEEYPLPMEDVLELLKPLSNVCSLYRRDQDVCKTILNHVLHVVKN LGQSNMDSENTRDAQGQFLTVIGAFWHLTKERKYIFSVRMALVNCLKTLL EADPYSKWAILNVMGKDFPVNEVFTQFLADNHHQVRMLAAESINRLFQDT KGDSSRLLKALPLKLQQTAFENAYLKAQEGMREMSHSAENPETLDEIYNR KSVLLTLIAVVLSCSPICEKQALFALCKSVKENGLEPHLVKKVLEKVSET FGYRRLEDFMASHLDYLVLEWLNLQDTEYNLSSFPFILLNYTNIEDFYRS CYKVLIPHLVIRSHFDEVKSIANQIQEDWKSLLTDCFPKILVNILPYFAY EGTRDSGMAQQRETATKVYDMLKSENLLGKQIDHLFISNLPEIVVELLMT LHEPANSSASQSTDLCDFSGDLDPAPNPPHFPSHVIKATFAYISNCHKTK LKSILEILSKSPDSYQKILLAICEQAAETNNVYKKHRILKIYHLFVSLLL KDIKSGLGGAWAFVLRDVIYTLIHYINQRPSCIMDVSLRSFSLCCDLLSQ VCQTAVTYCKDALENHLHVIVGTLIPLVYEQVEVQKQVLDLLKYLVIDNK DNENLYITIKLLDPFPDHVVFKDLRITQQKIKYSRGPFSLLEEINHFLSV SVYDALPLTRLEGLKDLRRQLELHKDQMVDIMRASQDNPQDGIMVKLVVN LLQLSKMAINHTGEKEVLEAVGSCLGEVGPIDFSTIAIQHSKDASYTKAL KLFEDKELQWTFIMLTYLNNTLVEDCVKVRSAAVTCLKNILATKTGHSFW EIYKMTTDPMLAYLQPFRTSRKKFLEVPRFDKENPFEGLDDINLWIPLSE NHDIWIKTLTCAFLDSGGTKCEILQLLKPMCEVKTDFCQTVLPYLIHDIL LQDTNESWRNLLSTHVQGFFTSCLRHFSQTSRSTTPANLDSESEHFFRCC LDKKSQRTMLAVVDYMRRQKRPSSGTIFNDAFWLDLNYLEVAKVAQSCAA HFTALLYAEIYADKKSMDDQEKRSLAFEEGSQSTTISSLSEKSKEETGIS LQDLLLEIYRSIGEPDSLYGCGGGKMLQPITRLRTYEHEAMWGKALVTYD LETAIPSSTRQAGIIQALQNLGLCHILSVYLKGLDYENKDWCPELEELHY QAAWRNMQWDHCTSVSKEVEGTSYHESLYNALQSLRDREFSTFYESLKYA RVKEVEEMCKRSLESVYSLYPTLSRLQAIGELESIGELFSRSVTHRQLSE VYIKWQKHSQLLKDSDFSFQEPIMALRTVILEILMEKEMDNSQRECIKDI LTKHLVELSILARTFKNTQLPERAIFQIKQYNSVSCGVSEWQLEEAQVFW AKKEQSLALSILKQMIKKLDASCAANNPSLKLTYTECLRVCGNWLAETCL ENPAVIMQTYLEKAVEVAGNYDGESSDELRNGKMKAFLSLARFSDTQYQR IENYMKSSEFENKQALLKRAKEEVGLLREHKIQTNRYTVKVQRELELDEL ALRALKEDRKRFLCKAVENYINCLLSGEEHDMWVFRLCSLWLENSGVSEV NGMMKRDGMKIPTYKFLPLMYQLAARMGTKMMGGLGFHEVLNNLISRISM DHPHHTLFIILALANANRDEFLTKPEVARRSRITKNVPKQSSQLDEDRTE AANRIICTIRSRRPQMVRSVEALCDAYIILANLDATQWKTQRKGINIPAD QPITKLKNLEDVVVPTMEIKVDHTGEYGNLVTIQSFKAEFRLAGGVNLPK IIDCVGSDGKERRQLVKGRDDLRQDAVMQQVFQMCNTLLQRNTETRKRKL TICTYKVVPLSQRSGVLEWCTGTVPIGEFLVNNEDGAHKRYRPNDFSAFQ CQKKMMEVQKKSFEEKYEVFMDVCQNFQPVFRYFCMEKFLDPAIWFEKRL AYTRSVATSSIVGYILGLGDRHVQNILINEQSAELVHIDLGVAFEQGKIL PTPETVPFRLTRDIVDGMGITGVEGVFRRCCEKTMEVMRNSQETLLTIVE VLLYDPLFDWTMNPLKALYLQQRPEDETELHPTLNADDQECKRNLSDIDQ SFNKVAERVLMRLQEKLKGVEEGTVLSVGGQVNLLIQQAIDPKNLSRLFP GWKAWV A 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 serin treoninovih proteyinkinaz fosfoproteyiniv Zadiyanij u takih biologichnih procesah yak klitinnij cikl poshkodzhennya DNK acetilyuvannya Bilok maye sajt dlya zv yazuvannya z ATF nukleotidami DNK Lokalizovanij u yadri citoplazmatichnih vezikulah 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 Chen G Lee E Y H P 1996 The product of the ATM gene is a 370 kDa nuclear phosphoprotein J Biol Chem 271 33693 33697 PMID 8969240 DOI 10 1074 jbc 271 52 33693 Cortez D Wang Y Qin J Elledge S J 1999 Requirement of ATM dependent phosphorylation of brca1 in the DNA damage response to double strand breaks Science 286 1162 1166 PMID 10550055 DOI 10 1126 science 286 5442 1162 Bakkenist C J Kastan M B 2003 DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation Nature 421 499 506 PMID 12556884 DOI 10 1038 nature01368 Kaygun H Marzluff W F 2005 Regulated degradation of replication dependent histone mRNAs requires both ATR and Upf1 Nat Struct Mol Biol 12 794 800 PMID 16086026 DOI 10 1038 nsmb972 Sun Y Jiang X Chen S Fernandes N Price B D 2005 A role for the Tip60 histone acetyltransferase in the acetylation and activation of ATM Proc Natl Acad Sci U S A 102 13182 13187 PMID 16141325 DOI 10 1073 pnas 0504211102PrimitkiZahvoryuvannya genetichno pov yazani z ATM pereglyanuti redaguvati posilannya na VikiDanih Human PubMed Reference Mouse PubMed Reference angl Arhiv originalu za 26 veresnya 2015 Procitovano 8 veresnya 2017 angl Arhiv originalu za 7 veresnya 2017 Procitovano 8 veresnya 2017 Div takozhHromosoma 11 Ce nezavershena stattya pro bilki Vi mozhete dopomogti proyektu vipravivshi abo dopisavshi yiyi

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