Q13315

PTMD Annotation Information


※ Protein Information

Tag Content
UniProt Accession ATM_HUMAN; Q13315;
Entrez ID 472
GenBank Protein ID NM_000051.3; XM_005271561.4; XM_005271562.4; XM_006718843.3; XM_006718845.1; XM_011542840.2; XM_017017789.1; XM_017017790.1;
GenBank Nucleotide ID NP_000042.3; XP_005271618.2; XP_005271619.2; XP_006718906.1; XP_006718908.1; XP_011541142.1; XP_016873278.1; XP_016873279.1;
Protein Name Serine-protein kinase ATM (EC 2.7.11.1) (Ataxia telangiectasia mutated) (A-T mutated)
Gene Name ATM
Organism Homo sapiens
NCBI Taxa ID 9606
Functional DescriptionSerine/threonine protein kinase which activates checkpoint signaling upon double strand breaks (DSBs), apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA), thereby acting as a DNA damage sensor. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates 'Ser-139' of histone variant H2AX/H2AFX at double strand breaks (DSBs), thereby regulating DNA damage response mechanism. Also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce cl(view all)
Sequence
(Fasta)
MSLVLNDLLI CCRQLEHDRA TERKKEVEKF KRLIRDPETI KHLDRHSDSK QGKYLNWDAV 60
FRFLQKYIQK ETECLRIAKP NVSASTQASR QKKMQEISSL VKYFIKCANR RAPRLKCQEL 120
LNYIMDTVKD SSNGAIYGAD CSNILLKDIL SVRKYWCEIS QQQWLELFSV YFRLYLKPSQ 180
DVHRVLVARI IHAVTKGCCS QTDGLNSKFL DFFSKAIQCA RQEKSSSGLN HILAALTIFL 240
KTLAVNFRIR VCELGDEILP TLLYIWTQHR LNDSLKEVII ELFQLQIYIH HPKGAKTQEK 300
GAYESTKWRS ILYNLYDLLV NEISHIGSRG KYSSGFRNIA VKENLIELMA DICHQVFNED 360
TRSLEISQSY TTTQRESSDY SVPCKRKKIE LGWEVIKDHL QKSQNDFDLV PWLQIATQLI 420
SKYPASLPNC ELSPLLMILS QLLPQQRHGE RTPYVLRCLT EVALCQDKRS NLESSQKSDL 480
LKLWNKIWCI TFRGISSEQI QAENFGLLGA IIQGSLVEVD REFWKLFTGS ACRPSCPAVC 540
CLTLALTTSI VPGTVKMGIE QNMCEVNRSF SLKESIMKWL LFYQLEGDLE NSTEVPPILH 600
SNFPHLVLEK ILVSLTMKNC KAAMNFFQSV PECEHHQKDK EELSFSEVEE LFLQTTFDKM 660
DFLTIVRECG IEKHQSSIGF SVHQNLKESL DRCLLGLSEQ LLNNYSSEIT NSETLVRCSR 720
LLVGVLGCYC YMGVIAEEEA YKSELFQKAK SLMQCAGESI TLFKNKTNEE FRIGSLRNMM 780
QLCTRCLSNC TKKSPNKIAS GFFLRLLTSK LMNDIADICK SLASFIKKPF DRGEVESMED 840
DTNGNLMEVE DQSSMNLFND YPDSSVSDAN EPGESQSTIG AINPLAEEYL SKQDLLFLDM 900
LKFLCLCVTT AQTNTVSFRA ADIRRKLLML IDSSTLEPTK SLHLHMYLML LKELPGEEYP 960
LPMEDVLELL KPLSNVCSLY RRDQDVCKTI LNHVLHVVKN LGQSNMDSEN TRDAQGQFLT 1020
VIGAFWHLTK ERKYIFSVRM ALVNCLKTLL EADPYSKWAI LNVMGKDFPV NEVFTQFLAD 1080
NHHQVRMLAA ESINRLFQDT KGDSSRLLKA LPLKLQQTAF ENAYLKAQEG MREMSHSAEN 1140
PETLDEIYNR KSVLLTLIAV VLSCSPICEK QALFALCKSV KENGLEPHLV KKVLEKVSET 1200
FGYRRLEDFM ASHLDYLVLE WLNLQDTEYN LSSFPFILLN YTNIEDFYRS CYKVLIPHLV 1260
IRSHFDEVKS IANQIQEDWK SLLTDCFPKI LVNILPYFAY EGTRDSGMAQ QRETATKVYD 1320
MLKSENLLGK QIDHLFISNL PEIVVELLMT LHEPANSSAS QSTDLCDFSG DLDPAPNPPH 1380
FPSHVIKATF AYISNCHKTK LKSILEILSK SPDSYQKILL AICEQAAETN NVYKKHRILK 1440
IYHLFVSLLL KDIKSGLGGA WAFVLRDVIY TLIHYINQRP SCIMDVSLRS FSLCCDLLSQ 1500
VCQTAVTYCK DALENHLHVI VGTLIPLVYE QVEVQKQVLD LLKYLVIDNK DNENLYITIK 1560
LLDPFPDHVV FKDLRITQQK IKYSRGPFSL LEEINHFLSV SVYDALPLTR LEGLKDLRRQ 1620
LELHKDQMVD IMRASQDNPQ DGIMVKLVVN LLQLSKMAIN HTGEKEVLEA VGSCLGEVGP 1680
IDFSTIAIQH SKDASYTKAL KLFEDKELQW TFIMLTYLNN TLVEDCVKVR SAAVTCLKNI 1740
LATKTGHSFW EIYKMTTDPM LAYLQPFRTS RKKFLEVPRF DKENPFEGLD DINLWIPLSE 1800
NHDIWIKTLT CAFLDSGGTK CEILQLLKPM CEVKTDFCQT VLPYLIHDIL LQDTNESWRN 1860
LLSTHVQGFF TSCLRHFSQT SRSTTPANLD SESEHFFRCC LDKKSQRTML AVVDYMRRQK 1920
RPSSGTIFND AFWLDLNYLE VAKVAQSCAA HFTALLYAEI YADKKSMDDQ EKRSLAFEEG 1980
SQSTTISSLS EKSKEETGIS LQDLLLEIYR SIGEPDSLYG CGGGKMLQPI TRLRTYEHEA 2040
MWGKALVTYD LETAIPSSTR QAGIIQALQN LGLCHILSVY LKGLDYENKD WCPELEELHY 2100
QAAWRNMQWD HCTSVSKEVE GTSYHESLYN ALQSLRDREF STFYESLKYA RVKEVEEMCK 2160
RSLESVYSLY PTLSRLQAIG ELESIGELFS RSVTHRQLSE VYIKWQKHSQ LLKDSDFSFQ 2220
EPIMALRTVI LEILMEKEMD NSQRECIKDI LTKHLVELSI LARTFKNTQL PERAIFQIKQ 2280
YNSVSCGVSE WQLEEAQVFW AKKEQSLALS ILKQMIKKLD ASCAANNPSL KLTYTECLRV 2340
CGNWLAETCL ENPAVIMQTY LEKAVEVAGN YDGESSDELR NGKMKAFLSL ARFSDTQYQR 2400
IENYMKSSEF ENKQALLKRA KEEVGLLREH KIQTNRYTVK VQRELELDEL ALRALKEDRK 2460
RFLCKAVENY INCLLSGEEH DMWVFRLCSL WLENSGVSEV NGMMKRDGMK IPTYKFLPLM 2520
YQLAARMGTK MMGGLGFHEV LNNLISRISM DHPHHTLFII LALANANRDE FLTKPEVARR 2580
SRITKNVPKQ SSQLDEDRTE AANRIICTIR SRRPQMVRSV EALCDAYIIL ANLDATQWKT 2640
QRKGINIPAD QPITKLKNLE DVVVPTMEIK VDHTGEYGNL VTIQSFKAEF RLAGGVNLPK 2700
IIDCVGSDGK ERRQLVKGRD DLRQDAVMQQ VFQMCNTLLQ RNTETRKRKL TICTYKVVPL 2760
SQRSGVLEWC TGTVPIGEFL VNNEDGAHKR YRPNDFSAFQ CQKKMMEVQK KSFEEKYEVF 2820
MDVCQNFQPV FRYFCMEKFL DPAIWFEKRL AYTRSVATSS IVGYILGLGD RHVQNILINE 2880
QSAELVHIDL GVAFEQGKIL PTPETVPFRL TRDIVDGMGI TGVEGVFRRC CEKTMEVMRN 2940
SQETLLTIVE VLLYDPLFDW TMNPLKALYL QQRPEDETEL HPTLNADDQE CKRNLSDIDQ 3000
SFNKVAERVL MRLQEKLKGV EEGTVLSVGG QVNLLIQQAI DPKNLSRLFP GWKAWV 3057

※ PTM-Disease Association

NumPTMDiseaseCell TypeTypePTM SitePMID
1Serine PhosphorylationChronic lymphocytic leukemiatumor tissuePS198122952040
[Reference]: The phosphorylation state of ATM at Ser-1981 was measured using quantitative immunoblotting in purified CLL cells isolated from 251 CLL patients; data were normalized to simultaneous measurements of total ATM protein and actin
2Serine PhosphorylationMelanomaUS198126275218
[Reference]: Nuclear S1981 is associated with melanoma progression, strong S1981 was associated with worse overall survival

※ Disease Cross-ref Annotation

DatabaseAnnotation
Cancer Gene Census
T-PLL leukaemia, lymphoma, medulloblastoma, glioma ataxia-telangiectasia
CTD (Curated)
(count: 20)
(view all)
MESH:D001260 ; Ataxia Telangiectasia
MESH:D001943 ; Breast Neoplasms
MESH:D003528 ; Carcinoma, Adenoid Cystic
MESH:D006528 ; Carcinoma, Hepatocellular
MESH:D002294 ; Carcinoma, Squamous Cell
MESH:D002311 ; Cardiomyopathy, Dilated
HGMD
(count: 553)
(view all)
CP995078; Ataxia telangiectasia; Complex rearrangements
CP045882; Ataxia telangiectasia; Complex rearrangements
CD086251; Ataxia telangiectasia; Small deletions
CD982463; Ataxia telangiectasia; Small deletions
CD991598; Ataxia telangiectasia; Small deletions
CD067145; Ataxia telangiectasia; Small deletions
GWASdb
(count: 17)
(view all)
rs228591; Response to metformin; type 2 diabetes mellitus
rs4987897; HDL cholesterol; cholesterol ester storage disease|cholesterol embolism|coronary artery disease
rs3218688; LDL cholesterol; atherosclerosis|coronary artery disease
rs3218688; HDL cholesterol; cholesterol ester storage disease|cholesterol embolism|coronary artery disease
rs618499; Response to metformin; type 2 diabetes mellitus
rs624366; Response to metformin; type 2 diabetes mellitus

※ PTM Sites

PTM Modification Sites
Phosphorylation
(count: 77)
(view all)
1104      FQDTKGDSSRLLKAL     dbPAF
1105      QDTKGDSSRLLKALP     dbPAF
1403      CHKTKLKSILEILSK     dbPAF
1655      VVNLLQLSKMAINHT     dbPAF
1662      SKMAINHTGEKEVLE     dbPAF
1673      EVLEAVGSCLGEVGP     dbPAF
Acetylation
(count: 4)
2440      QTNRYTVKVQRELEL     PLMD
3016      VLMRLQEKLKGVEEG     PLMD
53        HSDSKQGKYLNWDAV     PLMD
673       VRECGIEKHQSSIGF     PLMD
Ubiquitination
(count: 65)
(view all)
1057      LEADPYSKWAILNVM     PLMD
1101      NRLFQDTKGDSSRLL     PLMD
1109      GDSSRLLKALPLKLQ     PLMD
1114      LLKALPLKLQQTAFE     PLMD
1126      AFENAYLKAQEGMRE     PLMD
116       NRRAPRLKCQELLNY     PLMD
Sumoylation
(count: 1)
2153      SLKYARVKEVEEMCK     PLMD
Glycation
(count: 3)
1656      VNLLQLSKMAINHTG     PLMD
1972      KSMDDQEKRSLAFEE     PLMD
1992      TISSLSEKSKEETGI     PLMD
Methylation
(count: 3)
1126      AFENAYLKAQEGMRE     PLMD
1656      VNLLQLSKMAINHTG     PLMD
2643      TQWKTQRKGINIPAD     PLMD

※ Protein-Protein Interaction

NetworkInteraction
ABSource
E9PFC7Q13315HPRD
H0YBT0Q13315IntAct
O14757Q13315HPRD
O15151Q13315HPRD
O43156Q13315IntAct
O43313Q13315MINT
O43324Q13315HPRD
O60934Q13315HPRD
O75943Q13315HPRD
O76064Q13315IntAct
O96017Q13315HPRD
P00519Q13315DIP; IntAct;HPRD
P02768Q13315IntAct
P04637Q13315HPRD; MINT
P13010Q13315HPRD
P15927Q13315DIP
P16104Q13315HPRD
P16220Q13315HPRD
P23025Q13315HPRD
P23921Q13315DIP
P31947Q13315IntAct
P36873Q13315IntAct
P40337Q13315IntAct
P49959Q13315HPRD
P50542Q13315HPRD
P54274Q13315HPRD; DIP; IntAct;IntAct
P56645Q13315MINT
P62136Q13315IntAct
P63010Q13315HPRD
P78527Q13315HPRD
Q00987Q13315HPRD
Q01094Q13315HPRD
Q06609Q13315HPRD
Q10567Q13315HPRD
Q12888Q13315HPRD
Q13315Q13315HPRD; IntAct
Q13315Q13367HPRD
Q13315Q13541HPRD
Q13315Q14191HPRD
Q13315Q14676HPRD; IntAct
Q13315Q14683HPRD; IntAct
Q13315Q15382HPRD
Q13315Q15554DIP
Q13315Q15831HPRD
Q13315Q6NXR4IntAct
Q13315Q7LG56DIP
Q13315Q7Z3E1HPRD
Q13315Q8WXE1HPRD
Q13315Q92547HPRD
Q13315Q92993HPRD
Q13315Q96SD1HPRD
Q13315Q99638HPRD
Q13315Q99708HPRD
Q13315Q9BQ15IntAct
Q13315Q9BXW9HPRD
Q13315Q9NY61HPRD; IntAct
Q13315Q9Y265IntAct
Q13315Q9Y4R8IntAct
Q13315Q9Y6K9MINT