KEGG T01001: 472

Homo sapiens (human): 472

Entry

472 CDS T01001

Gene name

ATM, AT1, ATA, ATC, ATD, ATDC, ATE, TEL1, TELO1

Definition

ataxia telangiectasia mutated (EC:2.7.11.1)

Orthology

K04728

ataxia telangiectasia mutated family protein [EC:2.7.11.1]

Organism

hsa Homo sapiens (human)

Pathway

hsa04064	NF-kappa B signaling pathway
hsa04110	Cell cycle
hsa04115	p53 signaling pathway
hsa04210	Apoptosis
hsa05166	HTLV-I infection
hsa05202	Transcriptional misregulation in cancer

Module

hsa_M00295

BRCA1-associated genome surveillance complex (BASC)

Disease

H00005	Chronic lymphocytic leukemia (CLL)
H00064	Ataxia telangiectasia (AT)
H00094	DNA repair defects
H00848	Ataxia with ocular apraxia (AOA)

Class

Environmental Information Processing; Signal transduction; NF-kappa B signaling pathway [PATH:hsa04064]
Cellular Processes; Cell growth and death; Cell cycle [PATH:hsa04110]
Cellular Processes; Cell growth and death; Apoptosis [PATH:hsa04210]
Cellular Processes; Cell growth and death; p53 signaling pathway [PATH:hsa04115]
Human Diseases; Cancers; Transcriptional misregulation in cancers [PATH:hsa05202]
Human Diseases; Infectious diseases; HTLV-I infection [PATH:hsa05166]

SSDB

Motif

Pfam:

FAT PI3_PI4_kinase TAN FATC HEAT_2

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Position

11q22-q23

AA seq 3056 aa
MSLVLNDLLICCRQLEHDRATERKKEVEKFKRLIRDPETIKHLDRHSDSKQGKYLNWDAV
FRFLQKYIQKETECLRIAKPNVSASTQASRQKKMQEISSLVKYFIKCANRRAPRLKCQEL
LNYIMDTVKDSSNGAIYGADCSNILLKDILSVRKYWCEISQQQWLELFSVYFRLYLKPSQ
DVHRVLVARIIHAVTKGCCSQTDGLNSKFLDFFSKAIQCARQEKSSSGLNHILAALTIFL
KTLAVNFRIRVCELGDEILPTLLYIWTQHRLNDSLKEVIIELFQLQIYIHHPKGAKTQEK
GAYESTKWRSILYNLYDLLVNEISHIGSRGKYSSGFRNIAVKENLIELMADICHQVFNED
TRSLEISQSYTTTQRESSDYSVPCKRKKIELGWEVIKDHLQKSQNDFDLVPWLQIATQLI
SKYPASLPNCELSPLLMILSQLLPQQRHGERTPYVLRCLTEVALCQDKRSNLESSQKSDL
LKLWNKIWCITFRGISSEQIQAENFGLLGAIIQGSLVEVDREFWKLFTGSACRPSCPAVC
CLTLALTTSIVPGTVKMGIEQNMCEVNRSFSLKESIMKWLLFYQLEGDLENSTEVPPILH
SNFPHLVLEKILVSLTMKNCKAAMNFFQSVPECEHHQKDKEELSFSEVEELFLQTTFDKM
DFLTIVRECGIEKHQSSIGFSVHQNLKESLDRCLLGLSEQLLNNYSSEITNSETLVRCSR
LLVGVLGCYCYMGVIAEEEAYKSELFQKAKSLMQCAGESITLFKNKTNEEFRIGSLRNMM
QLCTRCLSNCTKKSPNKIASGFFLRLLTSKLMNDIADICKSLASFIKKPFDRGEVESMED
DTNGNLMEVEDQSSMNLFNDYPDSSVSDANEPGESQSTIGAINPLAEEYLSKQDLLFLDM
LKFLCLCVTTAQTNTVSFRAADIRRKLLMLIDSSTLEPTKSLHLHMYLMLLKELPGEEYP
LPMEDVLELLKPLSNVCSLYRRDQDVCKTILNHVLHVVKNLGQSNMDSENTRDAQGQFLT
VIGAFWHLTKERKYIFSVRMALVNCLKTLLEADPYSKWAILNVMGKDFPVNEVFTQFLAD
NHHQVRMLAAESINRLFQDTKGDSSRLLKALPLKLQQTAFENAYLKAQEGMREMSHSAEN
PETLDEIYNRKSVLLTLIAVVLSCSPICEKQALFALCKSVKENGLEPHLVKKVLEKVSET
FGYRRLEDFMASHLDYLVLEWLNLQDTEYNLSSFPFILLNYTNIEDFYRSCYKVLIPHLV
IRSHFDEVKSIANQIQEDWKSLLTDCFPKILVNILPYFAYEGTRDSGMAQQRETATKVYD
MLKSENLLGKQIDHLFISNLPEIVVELLMTLHEPANSSASQSTDLCDFSGDLDPAPNPPH
FPSHVIKATFAYISNCHKTKLKSILEILSKSPDSYQKILLAICEQAAETNNVYKKHRILK
IYHLFVSLLLKDIKSGLGGAWAFVLRDVIYTLIHYINQRPSCIMDVSLRSFSLCCDLLSQ
VCQTAVTYCKDALENHLHVIVGTLIPLVYEQVEVQKQVLDLLKYLVIDNKDNENLYITIK
LLDPFPDHVVFKDLRITQQKIKYSRGPFSLLEEINHFLSVSVYDALPLTRLEGLKDLRRQ
LELHKDQMVDIMRASQDNPQDGIMVKLVVNLLQLSKMAINHTGEKEVLEAVGSCLGEVGP
IDFSTIAIQHSKDASYTKALKLFEDKELQWTFIMLTYLNNTLVEDCVKVRSAAVTCLKNI
LATKTGHSFWEIYKMTTDPMLAYLQPFRTSRKKFLEVPRFDKENPFEGLDDINLWIPLSE
NHDIWIKTLTCAFLDSGGTKCEILQLLKPMCEVKTDFCQTVLPYLIHDILLQDTNESWRN
LLSTHVQGFFTSCLRHFSQTSRSTTPANLDSESEHFFRCCLDKKSQRTMLAVVDYMRRQK
RPSSGTIFNDAFWLDLNYLEVAKVAQSCAAHFTALLYAEIYADKKSMDDQEKRSLAFEEG
SQSTTISSLSEKSKEETGISLQDLLLEIYRSIGEPDSLYGCGGGKMLQPITRLRTYEHEA
MWGKALVTYDLETAIPSSTRQAGIIQALQNLGLCHILSVYLKGLDYENKDWCPELEELHY
QAAWRNMQWDHCTSVSKEVEGTSYHESLYNALQSLRDREFSTFYESLKYARVKEVEEMCK
RSLESVYSLYPTLSRLQAIGELESIGELFSRSVTHRQLSEVYIKWQKHSQLLKDSDFSFQ
EPIMALRTVILEILMEKEMDNSQRECIKDILTKHLVELSILARTFKNTQLPERAIFQIKQ
YNSVSCGVSEWQLEEAQVFWAKKEQSLALSILKQMIKKLDASCAANNPSLKLTYTECLRV
CGNWLAETCLENPAVIMQTYLEKAVEVAGNYDGESSDELRNGKMKAFLSLARFSDTQYQR
IENYMKSSEFENKQALLKRAKEEVGLLREHKIQTNRYTVKVQRELELDELALRALKEDRK
RFLCKAVENYINCLLSGEEHDMWVFRLCSLWLENSGVSEVNGMMKRDGMKIPTYKFLPLM
YQLAARMGTKMMGGLGFHEVLNNLISRISMDHPHHTLFIILALANANRDEFLTKPEVARR
SRITKNVPKQSSQLDEDRTEAANRIICTIRSRRPQMVRSVEALCDAYIILANLDATQWKT
QRKGINIPADQPITKLKNLEDVVVPTMEIKVDHTGEYGNLVTIQSFKAEFRLAGGVNLPK
IIDCVGSDGKERRQLVKGRDDLRQDAVMQQVFQMCNTLLQRNTETRKRKLTICTYKVVPL
SQRSGVLEWCTGTVPIGEFLVNNEDGAHKRYRPNDFSAFQCQKKMMEVQKKSFEEKYEVF
MDVCQNFQPVFRYFCMEKFLDPAIWFEKRLAYTRSVATSSIVGYILGLGDRHVQNILINE
QSAELVHIDLGVAFEQGKILPTPETVPFRLTRDIVDGMGITGVEGVFRRCCEKTMEVMRN
SQETLLTIVEVLLYDPLFDWTMNPLKALYLQQRPEDETELHPTLNADDQECKRNLSDIDQ
SFNKVAERVLMRLQEKLKGVEEGTVLSVGGQVNLLIQQAIDPKNLSRLFPGWKAWV

NT seq 9171 nt +upstreamnt +downstreamnt
atgagtctagtacttaatgatctgcttatctgctgccgtcaactagaacatgatagagct
acagaacgaaagaaagaagttgagaaatttaagcgcctgattcgagatcctgaaacaatt
aaacatctagatcggcattcagattccaaacaaggaaaatatttgaattgggatgctgtt
tttagatttttacagaaatatattcagaaagaaacagaatgtctgagaatagcaaaacca
aatgtatcagcctcaacacaagcctccaggcagaaaaagatgcaggaaatcagtagtttg
gtcaaatacttcatcaaatgtgcaaacagaagagcacctaggctaaaatgtcaagaactc
ttaaattatatcatggatacagtgaaagattcatctaatggtgctatttacggagctgat
tgtagcaacatactactcaaagacattctttctgtgagaaaatactggtgtgaaatatct
cagcaacagtggttagaattgttctctgtgtacttcaggctctatctgaaaccttcacaa
gatgttcatagagttttagtggctagaataattcatgctgttaccaaaggatgctgttct
cagactgacggattaaattccaaatttttggactttttttccaaggctattcagtgtgcg
agacaagaaaagagctcttcaggtctaaatcatatcttagcagctcttactatcttcctc
aagactttggctgtcaactttcgaattcgagtgtgtgaattaggagatgaaattcttccc
actttgctttatatttggactcaacataggcttaatgattctttaaaagaagtcattatt
gaattatttcaactgcaaatttatatccatcatccgaaaggagccaaaacccaagaaaaa
ggtgcttatgaatcaacaaaatggagaagtattttatacaacttatatgatctgctagtg
aatgagataagtcatataggaagtagaggaaagtattcttcaggatttcgtaatattgcc
gtcaaagaaaatttgattgaattgatggcagatatctgtcaccaggtttttaatgaagat
accagatccttggagatttctcaatcttacactactacacaaagagaatctagtgattac
agtgtcccttgcaaaaggaagaaaatagaactaggctgggaagtaataaaagatcacctt
cagaagtcacagaatgattttgatcttgtgccttggctacagattgcaacccaattaata
tcaaagtatcctgcaagtttacctaactgtgagctgtctccattactgatgatactatct
cagcttctaccccaacagcgacatggggaacgtacaccatatgtgttacgatgccttacg
gaagttgcattgtgtcaagacaagaggtcaaacctagaaagctcacaaaagtcagattta
ttaaaactctggaataaaatttggtgtattacctttcgtggtataagttctgagcaaata
caagctgaaaactttggcttacttggagccataattcagggtagtttagttgaggttgac
agagaattctggaagttatttactgggtcagcctgcagaccttcatgtcctgcagtatgc
tgtttgactttggcactgaccaccagtatagttccaggaacggtaaaaatgggaatagag
caaaatatgtgtgaagtaaatagaagcttttctttaaaggaatcaataatgaaatggctc
ttattctatcagttagagggtgacttagaaaatagcacagaagtgcctccaattcttcac
agtaattttcctcatcttgtactggagaaaattcttgtgagtctcactatgaaaaactgt
aaagctgcaatgaattttttccaaagcgtgccagaatgtgaacaccaccaaaaagataaa
gaagaactttcattctcagaagtagaagaactatttcttcagacaacttttgacaagatg
gactttttaaccattgtgagagaatgtggtatagaaaagcaccagtccagtattggcttc
tctgtccaccagaatctcaaggaatcactggatcgctgtcttctgggattatcagaacag
cttctgaataattactcatctgagattacaaattcagaaactcttgtccggtgttcacgt
cttttggtgggtgtccttggctgctactgttacatgggtgtaatagctgaagaggaagca
tataagtcagaattattccagaaagccaagtctctaatgcaatgtgcaggagaaagtatc
actctgtttaaaaataagacaaatgaggaattcagaattggttccttgagaaatatgatg
cagctatgtacacgttgcttgagcaactgtaccaagaagagtccaaataagattgcatct
ggctttttcctgcgattgttaacatcaaagctaatgaatgacattgcagatatttgtaaa
agtttagcatccttcatcaaaaagccatttgaccgtggagaagtagaatcaatggaagat
gatactaatggaaatctaatggaggtggaggatcagtcatccatgaatctatttaacgat
taccctgatagtagtgttagtgatgcaaacgaacctggagagagccaaagtaccataggt
gccattaatcctttagctgaagaatatctgtcaaagcaagatctacttttcttagacatg
ctcaagttcttgtgtttgtgtgtaactactgctcagaccaatactgtgtcctttagggca
gctgatattcggaggaaattgttaatgttaattgattctagcacgctagaacctaccaaa
tccctccacctgcatatgtatctaatgcttttaaaggagcttcctggagaagagtacccc
ttgccaatggaagatgttcttgaacttctgaaaccactatccaatgtgtgttctttgtat
cgtcgtgaccaagatgtttgtaaaactattttaaaccatgtccttcatgtagtgaaaaac
ctaggtcaaagcaatatggactctgagaacacaagggatgctcaaggacagtttcttaca
gtaattggagcattttggcatctaacaaaggagaggaaatatatattctctgtaagaatg
gccctagtaaattgccttaaaactttgcttgaggctgatccttattcaaaatgggccatt
cttaatgtaatgggaaaagactttcctgtaaatgaagtatttacacaatttcttgctgac
aatcatcaccaagttcgcatgttggctgcagagtcaatcaatagattgttccaggacacg
aagggagattcttccaggttactgaaagcacttcctttgaagcttcagcaaacagctttt
gaaaatgcatacttgaaagctcaggaaggaatgagagaaatgtcccatagtgctgagaac
cctgaaactttggatgaaatttataatagaaaatctgttttactgacgttgatagctgtg
gttttatcctgtagccctatctgcgaaaaacaggctttgtttgccctgtgtaaatctgtg
aaagagaatggattagaacctcaccttgtgaaaaaggttttagagaaagtttctgaaact
tttggatatagacgtttagaagactttatggcatctcatttagattatctggttttggaa
tggctaaatcttcaagatactgaatacaacttatcttcttttccttttattttattaaac
tacacaaatattgaggatttctatagatcttgttataaggttttgattccacatctggtg
attagaagtcattttgatgaggtgaagtccattgctaatcagattcaagaggactggaaa
agtcttctaacagactgctttccaaagattcttgtaaatattcttccttattttgcctat
gagggtaccagagacagtgggatggcacagcaaagagagactgctaccaaggtctatgat
atgcttaaaagtgaaaacttattgggaaaacagattgatcacttattcattagtaattta
ccagagattgtggtggagttattgatgacgttacatgagccagcaaattctagtgccagt
cagagcactgacctctgtgacttttcaggggatttggatcctgctcctaatccacctcat
tttccatcgcatgtgattaaagcaacatttgcctatatcagcaattgtcataaaaccaag
ttaaaaagcattttagaaattctttccaaaagccctgattcctatcagaaaattcttctt
gccatatgtgagcaagcagctgaaacaaataatgtttataagaagcacagaattcttaaa
atatatcacctgtttgttagtttattactgaaagatataaaaagtggcttaggaggagct
tgggcctttgttcttcgagacgttatttatactttgattcactatatcaaccaaaggcct
tcttgtatcatggatgtgtcattacgtagcttctccctttgttgtgacttattaagtcag
gtttgccagacagccgtgacttactgtaaggatgctctagaaaaccatcttcatgttatt
gttggtacacttataccccttgtgtatgagcaggtggaggttcagaaacaggtattggac
ttgttgaaatacttagtgatagataacaaggataatgaaaacctctatatcacgattaag
cttttagatccttttcctgaccatgttgtttttaaggatttgcgtattactcagcaaaaa
atcaaatacagtagaggacccttttcactcttggaggaaattaaccattttctctcagta
agtgtttatgatgcacttccattgacaagacttgaaggactaaaggatcttcgaagacaa
ctggaactacataaagatcagatggtggacattatgagagcttctcaggataatccgcaa
gatgggattatggtgaaactagttgtcaatttgttgcagttatccaagatggcaataaac
cacactggtgaaaaagaagttctagaggctgttggaagctgcttgggagaagtgggtcct
atagatttctctaccatagctatacaacatagtaaagatgcatcttataccaaggccctt
aagttatttgaagataaagaacttcagtggaccttcataatgctgacctacctgaataac
acactggtagaagattgtgtcaaagttcgatcagcagctgttacctgtttgaaaaacatt
ttagccacaaagactggacatagtttctgggagatttataagatgacaacagatccaatg
ctggcctatctacagccttttagaacatcaagaaaaaagtttttagaagtacccagattt
gacaaagaaaacccttttgaaggcctggatgatataaatctgtggattcctctaagtgaa
aatcatgacatttggataaagacactgacttgtgcttttttggacagtggaggcacaaaa
tgtgaaattcttcaattattaaagccaatgtgtgaagtgaaaactgacttttgtcagact
gtacttccatacttgattcatgatattttactccaagatacaaatgaatcatggagaaat
ctgctttctacacatgttcagggatttttcaccagctgtcttcgacacttctcgcaaacg
agccgatccacaacccctgcaaacttggattcagagtcagagcactttttccgatgctgt
ttggataaaaaatcacaaagaacaatgcttgctgttgtggactacatgagaagacaaaag
agaccttcttcaggaacaatttttaatgatgctttctggctggatttaaattatctagaa
gttgccaaggtagctcagtcttgtgctgctcactttacagctttactctatgcagaaatc
tatgcagataagaaaagtatggatgatcaagagaaaagaagtcttgcatttgaagaagga
agccagagtacaactatttctagcttgagtgaaaaaagtaaagaagaaactggaataagt
ttacaggatcttctcttagaaatctacagaagtataggggagccagatagtttgtatggc
tgtggtggagggaagatgttacaacccattactagactacgaacatatgaacacgaagca
atgtggggcaaagccctagtaacatatgacctcgaaacagcaatcccctcatcaacacgc
caggcaggaatcattcaggccttgcagaatttgggactctgccatattctttccgtctat
ttaaaaggattggattatgaaaataaagactggtgtcctgaactagaagaacttcattac
caagcagcatggaggaatatgcagtgggaccattgcacttccgtcagcaaagaagtagaa
ggaaccagttaccatgaatcattgtacaatgctctacaatctctaagagacagagaattc
tctacattttatgaaagtctcaaatatgccagagtaaaagaagtggaagagatgtgtaag
cgcagccttgagtctgtgtattcgctctatcccacacttagcaggttgcaggccattgga
gagctggaaagcattggggagcttttctcaagatcagtcacacatagacaactctctgaa
gtatatattaagtggcagaaacactcccagcttctcaaggacagtgattttagttttcag
gagcctatcatggctctacgcacagtcattttggagatcctgatggaaaaggaaatggac
aactcacaaagagaatgtattaaggacattctcaccaaacaccttgtagaactctctata
ctggccagaactttcaagaacactcagctccctgaaagggcaatatttcaaattaaacag
tacaattcagttagctgtggagtctctgagtggcagctggaagaagcacaagtattctgg
gcaaaaaaggagcagagtcttgccctgagtattctcaagcaaatgatcaagaagttggat
gccagctgtgcagcgaacaatcccagcctaaaacttacatacacagaatgtctgagggtt
tgtggcaactggttagcagaaacgtgcttagaaaatcctgcggtcatcatgcagacctat
ctagaaaaggcagtagaagttgctggaaattatgatggagaaagtagtgatgagctaaga
aatggaaaaatgaaggcatttctctcattagcccggttttcagatactcaataccaaaga
attgaaaactacatgaaatcatcggaatttgaaaacaagcaagctctcctgaaaagagcc
aaagaggaagtaggtctccttagggaacataaaattcagacaaacagatacacagtaaag
gttcagcgagagctggagttggatgaattagccctgcgtgcactgaaagaggatcgtaaa
cgcttcttatgtaaagcagttgaaaattatatcaactgcttattaagtggagaagaacat
gatatgtgggtattccgactttgttccctctggcttgaaaattctggagtttctgaagtc
aatggcatgatgaagagagacggaatgaagattccaacatataaatttttgcctcttatg
taccaattggctgctagaatggggaccaagatgatgggaggcctaggatttcatgaagtc
ctcaataatctaatctctagaatttcaatggatcacccccatcacactttgtttattata
ctggccttagcaaatgcaaacagagatgaatttctgactaaaccagaggtagccagaaga
agcagaataactaaaaatgtgcctaaacaaagctctcagcttgatgaggatcgaacagag
gctgcaaatagaataatatgtactatcagaagtaggagacctcagatggtcagaagtgtt
gaggcactttgtgatgcttatattatattagcaaacttagatgccactcagtggaagact
cagagaaaaggcataaatattccagcagaccagccaattactaaacttaagaatttagaa
gatgttgttgtccctactatggaaattaaggtggaccacacaggagaatatggaaatctg
gtgactatacagtcatttaaagcagaatttcgcttagcaggaggtgtaaatttaccaaaa
ataatagattgtgtaggttccgatggcaaggagaggagacagcttgttaagggccgtgat
gacctgagacaagatgctgtcatgcaacaggtcttccagatgtgtaatacattactgcag
agaaacacggaaactaggaagaggaaattaactatctgtacttataaggtggttcccctc
tctcagcgaagtggtgttcttgaatggtgcacaggaactgtccccattggtgaatttctt
gttaacaatgaagatggtgctcataaaagatacaggccaaatgatttcagtgcctttcag
tgccaaaagaaaatgatggaggtgcaaaaaaagtcttttgaagagaaatatgaagtcttc
atggatgtttgccaaaattttcaaccagttttccgttacttctgcatggaaaaattcttg
gatccagctatttggtttgagaagcgattggcttatacgcgcagtgtagctacttcttct
attgttggttacatacttggacttggtgatagacatgtacagaatatcttgataaatgag
cagtcagcagaacttgtacatatagatctaggtgttgcttttgaacagggcaaaatcctt
cctactcctgagacagttccttttagactcaccagagatattgtggatggcatgggcatt
acgggtgttgaaggtgtcttcagaagatgctgtgagaaaaccatggaagtgatgagaaac
tctcaggaaactctgttaaccattgtagaggtccttctatatgatccactctttgactgg
accatgaatcctttgaaagctttgtatttacagcagaggccggaagatgaaactgagctt
caccctactctgaatgcagatgaccaagaatgcaaacgaaatctcagtgatattgaccag
agtttcaacaaagtagctgaacgtgtcttaatgagactacaagagaaactgaaaggagtg
gaagaaggcactgtgctcagtgttggtggacaagtgaatttgctcatacagcaggccata
gaccccaaaaatctcagccgacttttcccaggatggaaagcttgggtgtga

All links

Ontology (1)   
   KEGG BRITE (1)   
Pathway (7)   
   KEGG PATHWAY (6)   
   KEGG MODULE (1)   
Disease (7)   
   KEGG DISEASE (4)   
   OMIM (3)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (23)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (15)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (2)   
   UniProt (1)   
   RefSeq(pep) (1)   
DNA sequence (37)   
   RefSeq(nuc) (3)   
   GenBank (17)   
   EMBL (17)   
Protein domain (5)   
   Pfam (5)   
All databases (84)   

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