KEGG   Homo sapiens (human): 4361
Entry
4361              CDS       T01001                                 
Symbol
MRE11, ATLD, HNGS1, MRE11A, MRE11B
Name
(RefSeq) MRE11 homolog, double strand break repair nuclease
  KO
K10865  double-strand break repair protein MRE11
Organism
hsa  Homo sapiens (human)
Pathway
hsa03440  Homologous recombination
hsa03450  Non-homologous end-joining
hsa04218  Cellular senescence
Network
nt06506  Double-strand break repair
  Element
N01439  Double-strand break signaling
N01446  DNA end resection and RPA loading
Disease
H00094  Immunodeficiency associated with DNA repair defects
H02014  Ataxia-telangiectasia-like syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09124 Replication and repair
   03440 Homologous recombination
    4361 (MRE11)
   03450 Non-homologous end-joining
    4361 (MRE11)
 09140 Cellular Processes
  09143 Cell growth and death
   04218 Cellular senescence
    4361 (MRE11)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03032 DNA replication proteins [BR:hsa03032]
    4361 (MRE11)
   03400 DNA repair and recombination proteins [BR:hsa03400]
    4361 (MRE11)
DNA replication proteins [BR:hsa03032]
 Eukaryotic type
  DNA Replication Termination Factors
   MRN complex
    4361 (MRE11)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic type
  DSBR (double strand breaks repair)
   HR (homologous recombination)
    MRN(MRX) complex
     4361 (MRE11)
    BRCA1-C complex
     4361 (MRE11)
   NHEJ (non-homologous end-joining)
    MRX complex
     4361 (MRE11)
SSDB
Motif
Pfam: Mre11_DNA_bind Metallophos
Other DBs
NCBI-GeneID: 4361
NCBI-ProteinID: NP_005582
OMIM: 600814
HGNC: 7230
Ensembl: ENSG00000020922
UniProt: P49959
Structure
LinkDB
Position
11:complement(94415570..94512412)
AA seq 708 aa
MSTADALDDENTFKILVATDIHLGFMEKDAVRGNDTFVTLDEILRLAQENEVDFILLGGD
LFHENKPSRKTLHTCLELLRKYCMGDRPVQFEILSDQSVNFGFSKFPWVNYQDGNLNISI
PVFSIHGNHDDPTGADALCALDILSCAGFVNHFGRSMSVEKIDISPVLLQKGSTKIALYG
LGSIPDERLYRMFVNKKVTMLRPKEDENSWFNLFVIHQNRSKHGSTNFIPEQFLDDFIDL
VIWGHEHECKIAPTKNEQQLFYISQPGSSVVTSLSPGEAVKKHVGLLRIKGRKMNMHKIP
LHTVRQFFMEDIVLANHPDIFNPDNPKVTQAIQSFCLEKIEEMLENAERERLGNSHQPEK
PLVRLRVDYSGGFEPFSVLRFSQKFVDRVANPKDIIHFFRHREQKEKTGEEINFGKLITK
PSEGTTLRVEDLVKQYFQTAEKNVQLSLLTERGMGEAVQEFVDKEEKDAIEELVKYQLEK
TQRFLKERHIDALEDKIDEEVRRFRETRQKNTNEEDDEVREAMTRARALRSQSEESASAF
SADDLMSIDLAEQMANDSDDSISAATNKGRGRGRGRRGGRGQNSASRGGSQRGRADTGLE
TSTRSRNSKTAVSASRNMSIIDAFKSTRQQPSRNVTTKNYSEVIEVDESDVEEDIFPTTS
KTDQRWSSTSSSKIMSQSQVSKGVDFESSEDDDDDPFMNTSSLRRNRR
NT seq 2127 nt   +upstreamnt  +downstreamnt
atgagtactgcagatgcacttgatgatgaaaacacatttaaaatattagttgcaacagat
attcatcttggatttatggagaaagatgcagtcagaggaaatgatacgtttgtaacactc
gatgaaattttaagacttgcccaggaaaatgaagtggattttattttgttaggtggtgat
ctttttcatgaaaataagccctcaaggaaaacattacatacctgcctcgagttattaaga
aaatattgtatgggtgatcggcctgtccagtttgaaattctcagtgatcagtcagtcaac
tttggttttagtaagtttccatgggtgaactatcaagatggcaacctcaacatttcaatt
ccagtgtttagtattcatggcaatcatgacgatcccacaggggcagatgcactttgtgcc
ttggacattttaagttgtgctggatttgtaaatcactttggacgttcaatgtctgtggag
aagatagacattagtccggttttgcttcaaaaaggaagcacaaagattgcgctatatggt
ttaggatccattccagatgaaaggctctatcgaatgtttgtcaataaaaaagtaacaatg
ttgagaccaaaggaagatgagaactcttggtttaacttatttgtgattcatcagaacagg
agtaaacatggaagtactaacttcattccagaacaatttttggatgacttcattgatctt
gttatctggggccatgaacatgagtgtaaaatagctccaaccaaaaatgaacaacagctg
ttttatatctcacaacctggaagctcagtggttacttctctttccccaggagaagctgta
aagaaacatgttggtttgctgcgtattaaagggaggaagatgaatatgcataaaattcct
cttcacacagtgcggcagtttttcatggaggatattgttctagctaatcatccagacatt
tttaacccagataatcctaaagtaacccaagccatacaaagcttctgtttggagaagatt
gaagaaatgcttgaaaatgctgaacgggaacgtctgggtaattctcaccagccagagaag
cctcttgtacgactgcgagtggactatagtggaggttttgaacctttcagtgttcttcgc
tttagccagaaatttgtggatcgggtagctaatccaaaagacattatccattttttcagg
catagagaacaaaaggaaaaaacaggagaagagatcaactttgggaaacttatcacaaag
ccttcagaaggaacaactttaagggtagaagatcttgtaaaacagtactttcaaaccgca
gagaagaatgtgcagctctcactgctaacagaaagagggatgggtgaagcagtacaagaa
tttgtggacaaggaggagaaagatgccattgaggaattagtgaaataccagttggaaaaa
acacagcgatttcttaaagaacgtcatattgatgccctcgaagacaaaatcgatgaggag
gtacgtcgtttcagagaaaccagacaaaaaaatactaatgaagaagatgatgaagtccgt
gaggctatgaccagggccagagcactcagatctcagtcagaggagtctgcttctgccttt
agtgctgatgaccttatgagtatagatttagcagaacagatggctaatgactctgatgat
agcatctcagcagcaaccaacaaaggaagaggccgaggaagaggtcgaagaggtggaaga
gggcagaattcagcatcgagaggagggtctcaaagaggaagagcagacactggtctggag
acttctacccgtagcaggaactcaaagactgctgtgtcagcatctagaaatatgtctatt
atagatgcctttaaatctacaagacagcagccttcccgaaatgtcactactaagaattat
tcagaggtgattgaggtagatgaatcagatgtggaagaagacatttttcctaccacttca
aagacagatcaaaggtggtccagcacatcatccagcaaaatcatgtcccagagtcaagta
tcgaaaggggttgattttgaatcaagtgaggatgatgatgatgatccttttatgaacact
agttctttaagaagaaatagaagataa

KEGG   Homo sapiens (human): 10111
Entry
10111             CDS       T01001                                 
Symbol
RAD50, NBSLD, RAD502, hRad50
Name
(RefSeq) RAD50 double strand break repair protein
  KO
K10866  DNA repair protein RAD50 [EC:3.6.-.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa03440  Homologous recombination
hsa03450  Non-homologous end-joining
hsa04218  Cellular senescence
Network
nt06506  Double-strand break repair
  Element
N01439  Double-strand break signaling
N01446  DNA end resection and RPA loading
Disease
H01344  Nijmegen breakage syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09124 Replication and repair
   03440 Homologous recombination
    10111 (RAD50)
   03450 Non-homologous end-joining
    10111 (RAD50)
 09140 Cellular Processes
  09143 Cell growth and death
   04218 Cellular senescence
    10111 (RAD50)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03032 DNA replication proteins [BR:hsa03032]
    10111 (RAD50)
   03400 DNA repair and recombination proteins [BR:hsa03400]
    10111 (RAD50)
DNA replication proteins [BR:hsa03032]
 Eukaryotic type
  DNA Replication Termination Factors
   MRN complex
    10111 (RAD50)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic type
  DSBR (double strand breaks repair)
   HR (homologous recombination)
    MRN(MRX) complex
     10111 (RAD50)
    BRCA1-C complex
     10111 (RAD50)
   NHEJ (non-homologous end-joining)
    MRX complex
     10111 (RAD50)
SSDB
Motif
Pfam: AAA_23 Rad50_zn_hook AAA_21 SbcC_Walker_B SMC_N Crescentin AAA_29 DUF2703
Other DBs
NCBI-GeneID: 10111
NCBI-ProteinID: NP_005723
OMIM: 604040
HGNC: 9816
Ensembl: ENSG00000113522
UniProt: Q92878 A5D6Y3
Structure
LinkDB
Position
5:132556977..132646349
AA seq 1312 aa
MSRIEKMSILGVRSFGIEDKDKQIITFFSPLTILVGPNGAGKTTIIECLKYICTGDFPPG
TKGNTFVHDPKVAQETDVRAQIRLQFRDVNGELIAVQRSMVCTQKSKKTEFKTLEGVITR
TKHGEKVSLSSKCAEIDREMISSLGVSKAVLNNVIFCHQEDSNWPLSEGKALKQKFDEIF
SATRYIKALETLRQVRQTQGQKVKEYQMELKYLKQYKEKACEIRDQITSKEAQLTSSKEI
VKSYENELDPLKNRLKEIEHNLSKIMKLDNEIKALDSRKKQMEKDNSELEEKMEKVFQGT
DEQLNDLYHNHQRTVREKERKLVDCHRELEKLNKESRLLNQEKSELLVEQGRLQLQADRH
QEHIRARDSLIQSLATQLELDGFERGPFSERQIKNFHKLVRERQEGEAKTANQLMNDFAE
KETLKQKQIDEIRDKKTGLGRIIELKSEILSKKQNELKNVKYELQQLEGSSDRILELDQE
LIKAERELSKAEKNSNVETLKMEVISLQNEKADLDRTLRKLDQEMEQLNHHTTTRTQMEM
LTKDKADKDEQIRKIKSRHSDELTSLLGYFPNKKQLEDWLHSKSKEINQTRDRLAKLNKE
LASSEQNKNHINNELKRKEEQLSSYEDKLFDVCGSQDFESDLDRLKEEIEKSSKQRAMLA
GATAVYSQFITQLTDENQSCCPVCQRVFQTEAELQEVISDLQSKLRLAPDKLKSTESELK
KKEKRRDEMLGLVPMRQSIIDLKEKEIPELRNKLQNVNRDIQRLKNDIEEQETLLGTIMP
EEESAKVCLTDVTIMERFQMELKDVERKIAQQAAKLQGIDLDRTVQQVNQEKQEKQHKLD
TVSSKIELNRKLIQDQQEQIQHLKSTTNELKSEKLQISTNLQRRQQLEEQTVELSTEVQS
LYREIKDAKEQVSPLETTLEKFQQEKEELINKKNTSNKIAQDKLNDIKEKVKNIHGYMKD
IENYIQDGKDDYKKQKETELNKVIAQLSECEKHKEKINEDMRLMRQDIDTQKIQERWLQD
NLTLRKRNEELKEVEEERKQHLKEMGQMQVLQMKSEHQKLEENIDNIKRNHNLALGRQKG
YEEEIIHFKKELREPQFRDAEEKYREMMIVMRTTELVNKDLDIYYKTLDQAIMKFHSMKM
EEINKIIRDLWRSTYRGQDIEYIEIRSDADENVSASDKRRNYNYRVVMLKGDTALDMRGR
CSAGQKVLASLIIRLALAETFCLNCGIIALDEPTTNLDRENIESLAHALVEIIKSRSQQR
NFQLLVITHDEDFVELLGRSEYVEKFYRIKKNIDQCSEIVKCSVSSLGFNVH
NT seq 3939 nt   +upstreamnt  +downstreamnt
atgtcccggatcgaaaagatgagcattctgggcgtgcggagttttggaatagaggacaaa
gataagcaaattatcactttcttcagcccccttacaattttggttggacccaatggggcg
ggaaagacgaccatcattgaatgtctaaaatatatttgtactggagatttccctcctgga
accaaaggaaatacatttgtacacgatcccaaggttgctcaagaaacagatgtgagagcc
cagattcgtctgcaatttcgtgatgtcaatggagaacttatagctgtgcaaagatctatg
gtgtgtactcagaaaagcaaaaagacagaatttaaaactctggaaggagtcattactaga
acaaagcatggtgaaaaggtcagtctgagctctaagtgtgcagaaattgaccgagaaatg
atcagttctcttggggtttccaaggctgtgctaaataatgtcattttctgtcatcaagaa
gattctaattggcctttaagtgaaggaaaggctttgaagcaaaagtttgatgagattttt
tcagcaacaagatacattaaagccttagaaacacttcggcaggtacgtcagacacaaggt
cagaaagtaaaagaatatcaaatggaactaaaatatctgaagcaatataaggaaaaagct
tgtgagattcgtgatcagattacaagtaaggaagcccagttaacatcttcaaaggaaatt
gtcaaatcctatgagaatgaacttgatccattgaagaatcgtctaaaagaaattgaacat
aatctctctaaaataatgaaacttgacaatgaaattaaagccttggatagccgaaagaag
caaatggagaaagataatagtgaactggaagagaaaatggaaaaggtttttcaagggact
gatgagcaactaaatgacttatatcacaatcaccagagaacagtaagggagaaagaaagg
aaattggtagactgtcatcgtgaactggaaaaactaaataaagaatctaggcttctcaat
caggaaaaatcagaactgcttgttgaacagggtcgtctacagctgcaagcagatcgccat
caagaacatatccgagctagagattcattaattcagtctttggcaacacagctagaattg
gatggctttgagcgtggaccattcagtgaaagacagattaaaaattttcacaaacttgtg
agagagagacaagaaggggaagcaaaaactgccaaccaactgatgaatgactttgcagaa
aaagagactctgaaacaaaaacagatagatgagataagagataagaaaactggactggga
agaataattgagttaaaatcagaaatcctaagtaagaagcagaatgagctgaaaaatgtg
aagtatgaattacagcagttggaaggatcttcagacaggattcttgaactggaccaggag
ctcataaaagctgaacgtgagttaagcaaggctgagaaaaacagcaatgtagaaacctta
aaaatggaagtaataagtctccaaaatgaaaaagcagacttagacaggaccctgcgtaaa
cttgaccaggagatggagcagttaaaccatcatacaacaacacgtacccaaatggagatg
ctgaccaaagacaaagctgacaaagatgaacaaatcagaaaaataaaatctaggcacagt
gatgaattaacctcactgttgggatattttcccaacaaaaaacagcttgaagactggcta
catagtaaatcaaaagaaattaatcagaccagggacagacttgccaaattgaacaaggaa
ctagcttcatctgagcagaataaaaatcatataaataatgaactaaaaagaaaggaagag
cagttgtccagttacgaagacaagctgtttgatgtttgtggtagccaggattttgaaagt
gatttagacaggcttaaagaggaaattgaaaaatcatcaaaacagcgagccatgctggct
ggagccacagcagtttactcccagttcattactcagctaacagacgaaaaccagtcatgt
tgccccgtttgtcagagagtttttcagacagaggctgagttacaagaagtcatcagtgat
ttgcagtctaaactgcgacttgctccagataaactcaagtcaacagaatcagagctaaaa
aaaaaggaaaagcggcgtgatgaaatgctgggacttgtgcccatgaggcaaagcataatt
gatttgaaggagaaggaaataccagaattaagaaacaaactgcagaatgtcaatagagac
atacagcgcctaaagaacgacatagaagaacaagaaacactcttgggtacaataatgcct
gaagaagaaagtgccaaagtatgcctgacagatgttacaattatggagaggttccagatg
gaacttaaagatgttgaaagaaaaattgcacaacaagcagctaagctacaaggaatagac
ttagatcgaactgtccaacaagtcaaccaggagaaacaagagaaacagcacaagttagac
acagtttctagtaagattgaattgaatcgtaagcttatacaggaccagcaggaacagatt
caacatctaaaaagtacaacaaatgagctaaaatctgagaaacttcagatatccactaat
ttgcaacgtcgtcagcaactggaggagcagactgtggaattatccactgaagttcagtct
ttgtacagagagataaaggatgctaaagagcaggtaagccctttggaaacaacattggaa
aagttccagcaagaaaaagaagaattaatcaacaaaaaaaatacaagcaacaaaatagca
caggataaactgaatgatattaaagagaaggttaaaaatattcatggctatatgaaagac
attgagaattatattcaagatgggaaagacgactataagaagcaaaaagaaactgaactt
aataaagtaatagctcaactaagtgaatgcgagaaacacaaagaaaagataaatgaagat
atgagactcatgagacaagatattgatacacagaagatacaagaaaggtggctacaagat
aaccttactttaagaaaaagaaatgaggaactaaaagaagttgaagaagaaagaaaacaa
catttgaaggaaatgggtcaaatgcaggttttgcaaatgaaaagtgaacatcagaagttg
gaagagaacatagacaatataaaaagaaatcataatttggcattagggcgacagaaaggt
tatgaagaagaaattattcattttaagaaagaacttcgagaaccacaatttcgggatgct
gaggaaaagtatagagaaatgatgattgttatgaggacaacagaacttgtgaacaaggat
ctggatatttattataagactcttgaccaagcaataatgaaatttcacagtatgaaaatg
gaagaaatcaataaaattatacgtgacctgtggcgaagtacctatcgtggacaagatatt
gaatacatagaaatacggtctgatgccgatgaaaatgtatcagcttctgataaaaggcgg
aattataactaccgagtggtgatgctgaagggagacacagccttggatatgcgaggacga
tgcagtgctggacaaaaggtattagcctcactcatcattcgcctggccctggctgaaacg
ttctgcctcaactgtggcatcattgccttggatgagccaacaacaaatcttgaccgagaa
aacattgaatctcttgcacatgctctggttgagataataaaaagtcgctcacagcagcgt
aacttccagcttctggtaatcactcatgatgaagattttgtggagcttttaggacgttct
gaatatgtggagaaattctacaggattaaaaagaacatcgatcagtgctcagagattgtg
aaatgcagtgttagctccctgggattcaatgttcattaa

KEGG   Homo sapiens (human): 4683
Entry
4683              CDS       T01001                                 
Symbol
NBN, AT-V1, AT-V2, ATV, NBS, NBS1, P95
Name
(RefSeq) nibrin
  KO
K10867  nibrin
Organism
hsa  Homo sapiens (human)
Pathway
hsa03440  Homologous recombination
hsa04218  Cellular senescence
Network
nt06506  Double-strand break repair
  Element
N01439  Double-strand break signaling
N01446  DNA end resection and RPA loading
Disease
H00094  Immunodeficiency associated with DNA repair defects
H01132  Aplastic anemia
H01344  Nijmegen breakage syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09124 Replication and repair
   03440 Homologous recombination
    4683 (NBN)
 09140 Cellular Processes
  09143 Cell growth and death
   04218 Cellular senescence
    4683 (NBN)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03032 DNA replication proteins [BR:hsa03032]
    4683 (NBN)
   03400 DNA repair and recombination proteins [BR:hsa03400]
    4683 (NBN)
DNA replication proteins [BR:hsa03032]
 Eukaryotic type
  DNA Replication Termination Factors
   MRN complex
    4683 (NBN)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic type
  DSBR (double strand breaks repair)
   HR (homologous recombination)
    MRN(MRX) complex
     4683 (NBN)
    BRCA1-C complex
     4683 (NBN)
SSDB
Motif
Pfam: Nbs1_C NIBRIN_BRCT_II FHA RTT107_BRCT_5 BRCT Yop-YscD_cpl PTCB-BRCT
Other DBs
NCBI-GeneID: 4683
NCBI-ProteinID: NP_002476
OMIM: 602667
HGNC: 7652
Ensembl: ENSG00000104320
UniProt: O60934
Structure
LinkDB
Position
8:complement(89933331..89984667)
AA seq 754 aa
MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLSQT
DEIPVLTLKDNSKYGTFVNEEKMQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCL
DVSGKTALNQAILQLGGFTVNNWTEECTHLVMVSVKVTIKTICALICGRPIVKPEYFTEF
LKAVESKKQPPQIESFYPPLDEPSIGSKNVDLSGRQERKQIFKGKTFIFLNAKQHKKLSS
AVVFGGGEARLITEENEEEHNFFLAPGTCVVDTGITNSQTLIPDCQKKWIQSIMDMLQRQ
GLRPIPEAEIGLAVIFMTTKNYCDPQGHPSTGLKTTTPGPSLSQGVSVDEKLMPSAPVNT
TTYVADTESEQADTWDLSERPKEIKVSKMEQKFRMLSQDAPTVKESCKTSSNNNSMVSNT
LAKMRIPNYQLSPTKLPSINKSKDRASQQQQTNSIRNYFQPSTKKRERDEENQEMSSCKS
ARIETSCSLLEQTQPATPSLWKNKEQHLSENEPVDTNSDNNLFTDTDLKSIVKNSASKSH
AAEKLRSNKKREMDDVAIEDEVLEQLFKDTKPELEIDVKVQKQEEDVNVRKRPRMDIETN
DTFSDEAVPESSKISQENEIGKKRELKEDSLWSAKEISNNDKLQDDSEMLPKKLLLTEFR
SLVIKNSTSRNPSGINDDYGQLKNFKKFKKVTYPGAGKLPHIIGGSDLIAHHARKNTELE
EWLRQEMEVQNQHAKEESLADDLFRYNPYLKRRR
NT seq 2265 nt   +upstreamnt  +downstreamnt
atgtggaaactgctgcccgccgcgggcccggcaggaggagaaccatacagacttttgact
ggcgttgagtacgttgttggaaggaaaaactgtgccattctgattgaaaatgatcagtcg
atcagccgaaatcatgctgtgttaactgctaacttttctgtaaccaacctgagtcaaaca
gatgaaatccctgtattgacattaaaagataattctaagtatggtacctttgttaatgag
gaaaaaatgcagaatggcttttcccgaactttgaagtcgggggatggtattacttttgga
gtgtttggaagtaaattcagaatagagtatgagcctttggttgcatgctcttcttgttta
gatgtctctgggaaaactgctttaaatcaagctatattgcaacttggaggatttactgta
aacaattggacagaagaatgcactcaccttgtcatggtatcagtgaaagttaccattaaa
acaatatgtgcactcatttgtggacgtccaattgtaaagccagaatattttactgaattc
ctgaaagcagttgagtccaagaagcagcctccacaaattgaaagtttttacccacctctt
gatgaaccatctattggaagtaaaaatgttgatctgtcaggacggcaggaaagaaaacaa
atcttcaaagggaaaacatttatatttttgaatgccaaacagcataagaaattgagttcc
gcagttgtctttggaggtggggaagctaggttgataacagaagagaatgaagaagaacat
aatttctttttggctccgggaacgtgtgttgttgatacaggaataacaaactcacagacc
ttaattcctgactgtcagaagaaatggattcagtcaataatggatatgctccaaaggcaa
ggtcttagacctattcctgaagcagaaattggattggcggtgattttcatgactacaaag
aattactgtgatcctcagggccatcccagtacaggattaaagacaacaactccaggacca
agcctttcacaaggcgtgtcagttgatgaaaaactaatgccaagcgccccagtgaacact
acaacatacgtagctgacacagaatcagagcaagcagatacatgggatttgagtgaaagg
ccaaaagaaatcaaagtctccaaaatggaacaaaaattcagaatgctttcacaagatgca
cccactgtaaaggagtcctgcaaaacaagctctaataataatagtatggtatcaaatact
ttggctaagatgagaatcccaaactatcagctttcaccaactaaattgccaagtataaat
aaaagtaaagatagggcttctcagcagcagcagaccaactccatcagaaactactttcag
ccgtctaccaaaaaaagggaaagggatgaagaaaatcaagaaatgtcttcatgcaaatca
gcaagaatagaaacgtcttgttctcttttagaacaaacacaacctgctacaccctcattg
tggaaaaataaggagcagcatctatctgagaatgagcctgtggacacaaactcagacaat
aacttatttacagatacagatttaaaatctattgtgaaaaattctgccagtaaatctcat
gctgcagaaaagctaagatcaaataaaaaaagggaaatggatgatgtggccatagaagat
gaagtattggaacagttattcaaggacacaaaaccagagttagaaattgatgtgaaagtt
caaaaacaggaggaagatgtcaatgttagaaaaaggccaaggatggatatagaaacaaat
gacactttcagtgatgaagcagtaccagaaagtagcaaaatatctcaagaaaatgaaatt
gggaagaaacgtgaactcaaggaagactcactatggtcagctaaagaaatatctaacaat
gacaaacttcaggatgatagtgagatgcttccaaaaaagctgttattgactgaatttaga
tcactggtgattaaaaactctacttccagaaatccatctggcataaatgatgattatggt
caactaaaaaatttcaagaaattcaaaaaggtcacatatcctggagcaggaaaacttcca
cacatcattggaggatcagatctaatagctcatcatgctcgaaagaatacagaactagaa
gagtggctaaggcaggaaatggaggtacaaaatcaacatgcaaaagaagagtctcttgct
gatgatctttttagatacaatccttatttaaaaaggagaagataa

KEGG   Homo sapiens (human): 472
Entry
472               CDS       T01001                                 
Symbol
ATM, AT1, ATA, ATC, ATD, ATDC, ATE, TEL1, TELO1
Name
(RefSeq) ATM serine/threonine kinase
  KO
K04728  serine-protein kinase ATM [EC:2.7.11.1]
Organism
hsa  Homo sapiens (human)
Pathway
hsa01524  Platinum drug resistance
hsa03440  Homologous recombination
hsa04064  NF-kappa B signaling pathway
hsa04068  FoxO signaling pathway
hsa04110  Cell cycle
hsa04115  p53 signaling pathway
hsa04210  Apoptosis
hsa04218  Cellular senescence
hsa05131  Shigellosis
hsa05165  Human papillomavirus infection
hsa05166  Human T-cell leukemia virus 1 infection
hsa05170  Human immunodeficiency virus 1 infection
hsa05202  Transcriptional misregulation in cancer
hsa05206  MicroRNAs in cancer
Network
nt06160  Human T-cell leukemia virus 1 (HTLV-1)
nt06161  Human immunodeficiency virus 1 (HIV-1)
nt06166  Human papillomavirus (HPV)
nt06230  Cell cycle (cancer)
nt06240  Transcription (cancer)
nt06506  Double-strand break repair
  Element
N00136  EWSR1-ATF1 fusion to transcriptional activation
N00347  p300-p21-Cell cycle G1/S
N00372  HPV E7 to p300-p21-Cell cycle G1/S
N00455  CDC25-Cell cycle G2/M
N00499  ATR-p21-Cell cycle G2/M
N01439  Double-strand break signaling
Disease
H00005  Chronic lymphocytic leukemia
H00064  Ataxia telangiectasia
H00094  Immunodeficiency associated with DNA repair defects
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09124 Replication and repair
   03440 Homologous recombination
    472 (ATM)
 09130 Environmental Information Processing
  09132 Signal transduction
   04064 NF-kappa B signaling pathway
    472 (ATM)
   04068 FoxO signaling pathway
    472 (ATM)
 09140 Cellular Processes
  09143 Cell growth and death
   04110 Cell cycle
    472 (ATM)
   04210 Apoptosis
    472 (ATM)
   04115 p53 signaling pathway
    472 (ATM)
   04218 Cellular senescence
    472 (ATM)
 09160 Human Diseases
  09161 Cancer: overview
   05202 Transcriptional misregulation in cancer
    472 (ATM)
   05206 MicroRNAs in cancer
    472 (ATM)
  09172 Infectious disease: viral
   05166 Human T-cell leukemia virus 1 infection
    472 (ATM)
   05170 Human immunodeficiency virus 1 infection
    472 (ATM)
   05165 Human papillomavirus infection
    472 (ATM)
  09171 Infectious disease: bacterial
   05131 Shigellosis
    472 (ATM)
  09176 Drug resistance: antineoplastic
   01524 Platinum drug resistance
    472 (ATM)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01001 Protein kinases [BR:hsa01001]
    472 (ATM)
  09182 Protein families: genetic information processing
   03032 DNA replication proteins [BR:hsa03032]
    472 (ATM)
   03036 Chromosome and associated proteins [BR:hsa03036]
    472 (ATM)
   03400 DNA repair and recombination proteins [BR:hsa03400]
    472 (ATM)
Enzymes [BR:hsa01000]
 2. Transferases
  2.7  Transferring phosphorus-containing groups
   2.7.11  Protein-serine/threonine kinases
    2.7.11.1  non-specific serine/threonine protein kinase
     472 (ATM)
Protein kinases [BR:hsa01001]
 Serine/threonine kinases: Other
  PIKK family [OT]
   472 (ATM)
DNA replication proteins [BR:hsa03032]
 Eukaryotic type
  DNA Replication Termination Factors
   Other termination factors
    472 (ATM)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Meiosis-specific proteins
   DSB formation-related proteins
    472 (ATM)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic type
  Check point factors
   Other check point factors
    472 (ATM)
SSDB
Motif
Pfam: FAT PI3_PI4_kinase TAN FATC
Other DBs
NCBI-GeneID: 472
NCBI-ProteinID: NP_000042
OMIM: 607585
HGNC: 795
Ensembl: ENSG00000149311
UniProt: Q13315
Structure
LinkDB
Position
11:108223067..108369102
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

KEGG   Homo sapiens (human): 9656
Entry
9656              CDS       T01001                                 
Symbol
MDC1, NFBD1
Name
(RefSeq) mediator of DNA damage checkpoint 1
  KO
K20780  mediator of DNA damage checkpoint protein 1
Organism
hsa  Homo sapiens (human)
Network
nt06506  Double-strand break repair
  Element
N01439  Double-strand break signaling
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03400 DNA repair and recombination proteins [BR:hsa03400]
    9656 (MDC1)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic type
  Check point factors
   Other check point factors
    9656 (MDC1)
SSDB
Motif
Pfam: BRCT_2 FHA RTT107_BRCT_5 BRCT Yop-YscD_cpl
Other DBs
NCBI-GeneID: 9656
NCBI-ProteinID: NP_055456
OMIM: 607593
HGNC: 21163
Ensembl: ENSG00000137337
UniProt: Q14676 A0A1U9XBC1 A1Z5I9
Structure
LinkDB
Position
6:complement(30699807..30717281)
AA seq 2089 aa
MEDTQAIDWDVEEEEETEQSSESLRCNVEPVGRLHIFSGAHGPEKDFPLHLGKNVVGRMP
DCSVALPFPSISKQHAEIEILAWDKAPILRDCGSLNGTQILRPPKVLSPGVSHRLRDQEL
ILFADLLCQYHRLDVSLPFVSRGPLTVEETPRVQGETQPQRLLLAEDSEEEVDFLSERRM
VKKSRTTSSSVIVPESDEEGHSPVLGGLGPPFAFNLNSDTDVEEGQQPATEEASSAARRG
ATVEAKQSEAEVVTEIQLEKDQPLVKERDNDTKVKRGAGNGVVPAGVILERSQPPGEDSD
TDVDDDSRPPGRPAEVHLERAQPFGFIDSDTDAEEERIPATPVVIPMKKRKIFHGVGTRG
PGAPGLAHLQESQAGSDTDVEEGKAPQAVPLEKSQASMVINSDTDDEEEVSAALTLAHLK
ESQPAIWNRDAEEDMPQRVVLLQRSQTTTERDSDTDVEEEELPVENREAVLKDHTKIRAL
VRAHSEKDQPPFGDSDDSVEADKSSPGIHLERSQASTTVDINTQVEKEVPPGSAIIHIKK
HQVSVEGTNQTDVKAVGGPAKLLVVSLEEAWPLHGDCETDAEEGTSLTASVVADVRKSQL
PAEGDAGAEWAAAVLKQERAHEVGAQGGPPVAQVEQDLPISRENLTDLVVDTDTLGESTQ
PQREGAQVPTGREREQHVGGTKDSEDNYGDSEDLDLQATQCFLENQGLEAVQSMEDEPTQ
AFMLTPPQELGPSHCSFQTTGTLDEPWEVLATQPFCLRESEDSETQPFDTHLEAYGPCLS
PPRAIPGDQHPESPVHTEPMGIQGRGRQTVDKVMGIPKETAERVGPERGPLERETEKLLP
ERQTDVTGEEELTKGKQDREQKQLLARDTQRQESDKNGESASPERDRESLKVEIETSEEI
QEKQVQKQTLPSKAFEREVERPVANRECDPAELEEKVPKVILERDTQRGEPEGGSQDQKG
QASSPTPEPGVGAGDLPGPTSAPVPSGSQSGGRGSPVSPRRHQKGLLNCKMPPAEKASRI
RAAEKVSRGDQESPDACLPPTVPEAPAPPQKPLNSQSQKHLAPPPLLSPLLPSIKPTVRK
TRQDGSQEAPEAPLSSELEPFHPKPKIRTRKSSRMTPFPATSAAPEPHPSTSTAQPVTPK
PTSQATRSRTNRSSVKTPEPVVPTAPELQPSTSTDQPVTSEPTSQVTRGRKSRSSVKTPE
TVVPTALELQPSTSTDRPVTSEPTSQATRGRKNRSSVKTPEPVVPTAPELQPSTSTDQPV
TSEPTYQATRGRKNRSSVKTPEPVVPTAPELRPSTSTDRPVTPKPTSRTTRSRTNMSSVK
TPETVVPTAPELQISTSTDQPVTPKPTSRTTRSRTNMSSVKNPESTVPIAPELPPSTSTE
QPVTPEPTSRATRGRKNRSSGKTPETLVPTAPKLEPSTSTDQPVTPEPTSQATRGRTNRS
SVKTPETVVPTAPELQPSTSTDQPVTPEPTSQATRGRTDRSSVKTPETVVPTAPELQASA
STDQPVTSEPTSRTTRGRKNRSSVKTPETVVPAAPELQPSTSTDQPVTPEPTSRATRGRT
NRSSVKTPESIVPIAPELQPSTSRNQLVTPEPTSRATRCRTNRSSVKTPEPVVPTAPEPH
PTTSTDQPVTPKLTSRATRRKTNRSSVKTPKPVEPAASDLEPFTPTDQSVTPEAIAQGGQ
SKTLRSSTVRAMPVPTTPEFQSPVTTDQPISPEPITQPSCIKRQRAAGNPGSLAAPIDHK
PCSAPLEPKSQASRNQRWGAVRAAESLTAIPEPASPQLLETPIHASQIQKVEPAGRSRFT
PELQPKASQSRKRSLATMDSPPHQKQPQRGEVSQKTVIIKEEEEDTAEKPGKEEDVVTPK
PGKRKRDQAEEEPNRIPSRSLRRTKLNQESTAPKVLFTGVVDARGERAVLALGGSLAGSA
AEASHLVTDRIRRTVKFLCALGRGIPILSLDWLHQSRKAGFFLPPDEYVVTDPEQEKNFG
FSLQDALSRARERRLLEGYEIYVTPGVQPPPPQMGEIISCCGGTYLPSMPRSYKPQRVVI
TCPQDFPHCSIPLRVGLPLLSPEFLLTGVLKQEAKPEAFVLSPLEMSST
NT seq 6270 nt   +upstreamnt  +downstreamnt
atggaggacacccaggctattgactgggatgttgaagaagaggaggagacagagcaatcc
agtgaatccttgaggtgtaacgtggagccagtagggcggctacatatctttagtggtgcc
catggaccagaaaaagatttcccactacacctcgggaagaatgtggtaggccgaatgcct
gactgctctgtggccctgccctttccatctatctccaaacaacatgcagagattgaaatc
ttagcctgggacaaggcacctatcctccgagactgtgggagccttaatggtactcaaatc
ctgagacctcctaaggttttgagccctggggtgagtcaccgtctgagggaccaggaattg
attctctttgctgacttgctctgccagtaccatcgcctggatgtctctctgccctttgtc
tcccggggccctctgacagtagaagagacacccagagtacagggagaaactcaaccccag
aggcttctgttggctgaggactcggaggaggaagtagattttctttctgaaaggcgtatg
gtaaaaaaatcaaggaccacatcttcctctgtgatagttccagagagtgatgaagagggg
cattccccggtcctgggcggccttgggccgccttttgccttcaatttgaacagtgacaca
gatgtggaagaaggtcagcaaccagccacagaggaggcctcctcagctgccagaagaggt
gccactgtagaggcaaagcagtctgaagctgaagttgtaactgaaatccagcttgaaaag
gatcagcctttagtgaaggagagggacaatgatacaaaagtcaagaggggtgcagggaat
ggggtggttccagctggggtgattctggagaggagccaacctcctggagaggacagtgac
acagatgtggatgatgacagcaggcctcctggaaggccagctgaggtccatttggaaagg
gctcagccttttggcttcatcgacagcgacactgatgcggaagaagagaggatcccagca
accccagttgtcattcctatgaagaagaggaagatcttccatggagtaggtacaaggggt
cctggagcaccaggcctggcccatctgcaggagagccaggctggtagtgatacagatgtg
gaagaaggcaaggccccacaggctgtccctctggagaaaagccaagcttccatggttatc
aacagcgatacagatgacgaggaagaagtctcagcagcgctgactttggcacatctgaaa
gagagccagcctgctatatggaacagagatgcagaagaggacatgccccaacgtgtggtc
cttctgcagcgaagccaaaccaccactgagagagacagtgacacagacgtggaggaggaa
gagctcccagtggaaaatagagaagctgtcctcaaggatcacacaaagattagagccctt
gttagagcacattcagaaaaggaccaacctccttttggggacagtgatgacagtgtggaa
gcagataagagctcacctgggatccacctggagagaagccaagcctccaccacagtggac
atcaacacacaagtggagaaggaagtcccgccagggtcagccattatacatataaagaag
catcaggtgtctgtggaggggacaaatcaaacagatgtgaaagcagttgggggaccagca
aagctgcttgtggtatctctagaggaagcctggcctctgcatggggactgtgaaacagat
gcagaggagggcacctccctaacagcctcagtagttgcagatgtaagaaagagccagctt
ccagcagaaggggatgctggggcagagtgggctgcagctgttcttaagcaggagagagct
catgaggtgggggcccagggtgggccacctgtggcacaagtggagcaggacctccctatc
tcaagagagaacctcacagatctggtggtggacacagacactctaggggaatccacccag
ccacagagagagggagcccaggtccccacaggaagggagagagaacaacatgtgggtggg
accaaggactctgaagacaactatggtgattctgaagatctggacctacaagctacccag
tgctttctggagaatcagggcctggaagcagtccagagcatggaggatgaacctacccag
gccttcatgttgactccaccccaagagcttggcccttcccattgcagcttccagacaaca
ggtaccctagatgaaccatgggaggtcctggctacacagccattctgtctgagagagtct
gaggactctgagacccagccttttgacacgcaccttgaggcctatggaccttgcctgtct
ccacctagggcaataccaggagaccaacatccagagagcccagttcacacagagccaatg
gggattcaaggcagagggaggcagactgtggataaagtcatgggtataccaaaagaaaca
gcagagagggtgggccctgagagagggccattggagagagaaactgagaaactgctacca
gaaagacagacagatgtgacaggagaggaagaattaaccaaggggaaacaggacagagaa
caaaaacagttgttagctagagacacccagagacaagaatctgacaaaaatggggaaagt
gcaagtcctgaaagagatagggagagtttgaaggtagaaattgagacatctgaggaaata
caagagaaacaagtacagaagcagacccttccaagcaaagcatttgagagagaagtagag
agaccagtagcaaacagagagtgcgatccagccgagttagaagagaaggtgcccaaagtg
atcctggagagagatacacagagaggggagccagagggagggagccaggaccagaaaggg
caggcctccagcccaacaccagagcctggggtgggggcgggggaccttccgggacctacc
tcagcccccgtaccttctgggagccagtcaggtggaaggggatccccagtgagccccagg
aggcatcagaaaggcctcctgaattgcaagatgccacctgctgagaaggcttccaggatc
agagctgctgagaaggtttccaggggcgatcaggaatctccagatgcttgtctgcctcct
acagtacctgaagccccagccccaccccaaaagccccttaactctcagagccagaaacat
cttgcacctccgccccttctttctccccttttaccttctatcaagccaaccgttcgtaag
accaggcaagatgggagtcaggaagctccagaggctcccttgtcctcagagctggagcct
ttccacccaaagcctaaaattagaactcggaagtcctccagaatgacaccctttccagct
acctctgctgcccctgagccccacccttccacctccacagcccagccagtcactcccaag
cccacatctcaggccactaggagcaggacaaataggtcctctgtcaagacccctgaacca
gttgtccccacagcccctgagctccagccttccacctccacagaccagcctgtcacctct
gagcccacatctcaggttactaggggaagaaaaagtagatcctctgtcaagacccctgaa
acagttgtgcccacagcccttgagctccagccttccacctccaccgaccgacctgtcacc
tctgaacccacctctcaggctactaggggaagaaaaaatagatcctctgtcaagacccct
gaaccagttgtccccacagcccctgagctccagccttccacctccacagaccagcctgtc
acttctgagcccacatatcaggctactaggggaagaaaaaatagatcctctgtcaagacc
cctgaaccagttgtgcccacagcccctgagctccggccttccacctccacagaccgacct
gtcacccccaagcccacatctcggaccactaggagcaggacaaatatgtcctctgtcaag
acccctgaaacagttgtccccacagcccctgagctccagatttccacctccacagaccaa
cctgtcacccctaagcccacatctcggaccactaggagcaggacaaatatgtcctctgtg
aagaaccctgaatcaactgtccctatagcccctgagctcccaccttccacctccacagag
cagcctgtcacccctgagcccacatctcgggctactaggggaagaaaaaatagatcctct
ggcaagacccctgaaacacttgtccccacagcccctaagctcgagccttccacttccaca
gaccaacctgtcactcctgagcccacatctcaggccaccaggggcaggacaaataggtcc
tctgtgaagacccctgaaacagttgtccccacagcccctgagctccagccttccacctcc
acagaccagcctgttacccctgagcctacgtctcaggctactaggggaagaacagataga
tcctctgtcaagactcctgaaacagttgtccccacagcccctgagctacaggcttccgcc
tccacagaccagcctgtcacctctgagcccacatctcggaccactaggggaagaaaaaat
cggtcctctgtcaagacccctgaaacagttgtgcccgcagcccctgagctccagccttcc
acctccacagaccaacctgtcacccctgagcccacatctcgggccactaggggcaggaca
aataggtcctctgtcaagacccctgaatcaattgtccctatagcccctgagcttcagcct
tccacctccagaaaccagcttgtcacccctgagcccacatctcgggccactaggtgcagg
acaaataggtcctctgtcaagacccctgagccagttgtccccacagcccctgagccccat
cctaccacctccacagaccagcctgtcacccccaagctcacatctagggccactaggaga
aagacaaataggtcctctgtcaagactcccaaaccagttgaaccagcagcctctgatctt
gagccttttacccccacagaccagtccgtcacccctgaggccatagctcagggtggtcag
agcaaaacactgaggtcttccacagtaagagctatgccggttcctaccacccctgaattc
caatctcctgtcaccacagaccagcctatttcccctgagcctattactcaacccagttgc
atcaagaggcagagagccgctgggaaccctggctccctcgcagctcccattgaccataag
ccttgctctgcacccttggaacctaaatcccaggcctcaaggaaccaaagatggggagca
gtgagagcagctgaatcccttacagccattcctgagcctgcctctccccagcttcttgag
acaccaattcatgcctcccagatccaaaaggtggaaccagcaggtagatctaggttcacc
ccggagctccagcctaaggcctctcaaagccgcaagaggtctttagctaccatggattca
ccaccacatcaaaaacagccccaaagaggggaagtctcccagaagacagtgattatcaag
gaagaggaagaagatactgcagagaagccagggaaggaagaggatgtcgtgactccaaaa
ccaggcaagagaaagagagaccaggcagaggaggagcccaacagaataccaagccgcagc
ctccgacggaccaaacttaaccaagaatcaacagcccccaaagtgctcttcacaggagtg
gtggatgctcggggagagcgggctgtgctggcactggggggaagtctggctggttcagcg
gcagaggcttcccacctggtcactgatcgcatccgccggacagtcaagttcctgtgtgcc
ctggggcggggaatccccattctgtccctggactggctgcatcagtcccgcaaggctggt
ttcttcttacccccggatgaatatgtggtgaccgaccctgagcaagagaagaactttggc
tttagccttcaagacgcactgagcagggctcgggagcgaaggctgctagagggctatgag
atctatgtgacccctggagtccagccaccaccacctcagatgggagagattattagctgc
tgtggaggcacatacctacccagcatgcctcggtcctataagcctcagagagttgtgatc
acatgccctcaggacttccctcattgctccattccactacgggttgggctgcccctcctc
tcgcctgagttcctgctgactggagtgctgaagcaggaagccaagccagaggcctttgtc
ctctcccctttggagatgtcatccacctga

KEGG   Homo sapiens (human): 3014
Entry
3014              CDS       T01001                                 
Symbol
H2AX, H2A.X, H2A/X, H2AFX
Name
(RefSeq) H2A.X variant histone
  KO
K11251  histone H2A
Organism
hsa  Homo sapiens (human)
Pathway
hsa03082  ATP-dependent chromatin remodeling
hsa04217  Necroptosis
hsa04613  Neutrophil extracellular trap formation
hsa05034  Alcoholism
hsa05322  Systemic lupus erythematosus
Network
nt06506  Double-strand break repair
  Element
N01439  Double-strand break signaling
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09126 Chromosome
   03082 ATP-dependent chromatin remodeling
    3014 (H2AX)
 09140 Cellular Processes
  09143 Cell growth and death
   04217 Necroptosis
    3014 (H2AX)
 09150 Organismal Systems
  09151 Immune system
   04613 Neutrophil extracellular trap formation
    3014 (H2AX)
 09160 Human Diseases
  09163 Immune disease
   05322 Systemic lupus erythematosus
    3014 (H2AX)
  09165 Substance dependence
   05034 Alcoholism
    3014 (H2AX)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    3014 (H2AX)
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    3014 (H2AX)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Nucleosome assembly factors
   Histones
    3014 (H2AX)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of haemopoietic cells  (B-cell, T-cell, DC-cell, reticulocyte, and mast cell)
   3014 (H2AX)
SSDB
Motif
Pfam: Histone_H2A_C Histone CBFD_NFYB_HMF
Other DBs
NCBI-GeneID: 3014
NCBI-ProteinID: NP_002096
OMIM: 601772
HGNC: 4739
Ensembl: ENSG00000188486
UniProt: P16104
Structure
LinkDB
Position
11:complement(119093874..119095465)
AA seq 143 aa
MSGRGKTGGKARAKAKSRSSRAGLQFPVGRVHRLLRKGHYAERVGAGAPVYLAAVLEYLT
AEILELAGNAARDNKKTRIIPRHLQLAIRNDEELNKLLGGVTIAQGGVLPNIQAVLLPKK
TSATVGPKAPSGGKKATQASQEY
NT seq 432 nt   +upstreamnt  +downstreamnt
atgtcgggccgcggcaagactggcggcaaggcccgcgccaaggccaagtcgcgctcgtcg
cgcgccggcctccagttcccagtgggccgtgtacaccggctgctgcggaagggccactac
gccgagcgcgttggcgccggcgcgccagtgtacctggcggcagtgctggagtacctcacc
gctgagatcctggagctggcgggcaatgcggcccgcgacaacaagaagacgcgaatcatc
ccccgccacctgcagctggccatccgcaacgacgaggagctcaacaagctgctgggcggc
gtgacgatcgcccagggaggcgtcctgcccaacatccaggccgtgctgctgcccaagaag
accagcgccaccgtggggccgaaggcgccctcgggcggcaagaaggccacccaggcctcc
caggagtactaa

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