KEGG   Homo sapiens (human): 641
Entry
641               CDS       T01001                                 
Symbol
BLM, BS, MGRISCE1, RECQ2, RECQL2, RECQL3
Name
(RefSeq) BLM RecQ like helicase
  KO
K10901  bloom syndrome protein [EC:5.6.2.4]
Organism
hsa  Homo sapiens (human)
Pathway
hsa03440  Homologous recombination
hsa03460  Fanconi anemia pathway
Network
nt06506  Double-strand break repair
  Element
N01446  DNA end resection and RPA loading
N01447  Double Holliday junction dissolution
N01449  Synthesis-dependent strand annealing
Disease
H00094  Immunodeficiency associated with DNA repair defects
H00296  Defects in RecQ helicases
H01346  Bloom syndrome
H02492  Microcephaly, growth restriction, and increased sister chromatid exchange
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09124 Replication and repair
   03440 Homologous recombination
    641 (BLM)
   03460 Fanconi anemia pathway
    641 (BLM)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03032 DNA replication proteins [BR:hsa03032]
    641 (BLM)
   03400 DNA repair and recombination proteins [BR:hsa03400]
    641 (BLM)
Enzymes [BR:hsa01000]
 5. Isomerases
  5.6  Isomerases altering macromolecular conformation
   5.6.2  Enzymes altering nucleic acid conformation
    5.6.2.4  DNA 3'-5' helicase
     641 (BLM)
DNA replication proteins [BR:hsa03032]
 Eukaryotic type
  DNA Replication Termination Factors
   Other termination factors
    641 (BLM)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic type
  DSBR (double strand breaks repair)
   HR (homologous recombination)
    RecQ family DNA helicases
     641 (BLM)
    Bloom's syndrome complex (BTR)
     641 (BLM)
   FA (Fanconi anemia) pathway
     641 (BLM)
SSDB
Motif
Pfam: BLM_N BDHCT_assoc DEAD BDHCT Helicase_C RecQ_Zn_bind RQC HRDC ALMT
Other DBs
NCBI-GeneID: 641
NCBI-ProteinID: NP_000048
OMIM: 604610
HGNC: 1058
Ensembl: ENSG00000197299
UniProt: P54132
Structure
LinkDB
Position
15:90717346..90816166
AA seq 1417 aa
MAAVPQNNLQEQLERHSARTLNNKLSLSKPKFSGFTFKKKTSSDNNVSVTNVSVAKTPVL
RNKDVNVTEDFSFSEPLPNTTNQQRVKDFFKNAPAGQETQRGGSKSLLPDFLQTPKEVVC
TTQNTPTVKKSRDTALKKLEFSSSPDSLSTINDWDDMDDFDTSETSKSFVTPPQSHFVRV
STAQKSKKGKRNFFKAQLYTTNTVKTDLPPPSSESEQIDLTEEQKDDSEWLSSDVICIDD
GPIAEVHINEDAQESDSLKTHLEDERDNSEKKKNLEEAELHSTEKVPCIEFDDDDYDTDF
VPPSPEEIISASSSSSKCLSTLKDLDTSDRKEDVLSTSKDLLSKPEKMSMQELNPETSTD
CDARQISLQQQLIHVMEHICKLIDTIPDDKLKLLDCGNELLQQRNIRRKLLTEVDFNKSD
ASLLGSLWRYRPDSLDGPMEGDSCPTGNSMKELNFSHLPSNSVSPGDCLLTTTLGKTGFS
ATRKNLFERPLFNTHLQKSFVSSNWAETPRLGKKNESSYFPGNVLTSTAVKDQNKHTASI
NDLERETQPSYDIDNFDIDDFDDDDDWEDIMHNLAASKSSTAAYQPIKEGRPIKSVSERL
SSAKTDCLPVSSTAQNINFSESIQNYTDKSAQNLASRNLKHERFQSLSFPHTKEMMKIFH
KKFGLHNFRTNQLEAINAALLGEDCFILMPTGGGKSLCYQLPACVSPGVTVVISPLRSLI
VDQVQKLTSLDIPATYLTGDKTDSEATNIYLQLSKKDPIIKLLYVTPEKICASNRLISTL
ENLYERKLLARFVIDEAHCVSQWGHDFRQDYKRMNMLRQKFPSVPVMALTATANPRVQKD
ILTQLKILRPQVFSMSFNRHNLKYYVLPKKPKKVAFDCLEWIRKHHPYDSGIIYCLSRRE
CDTMADTLQRDGLAALAYHAGLSDSARDEVQQKWINQDGCQVICATIAFGMGIDKPDVRF
VIHASLPKSVEGYYQESGRAGRDGEISHCLLFYTYHDVTRLKRLIMMEKDGNHHTRETHF
NNLYSMVHYCENITECRRIQLLAYFGENGFNPDFCKKHPDVSCDNCCKTKDYKTRDVTDD
VKSIVRFVQEHSSSQGMRNIKHVGPSGRFTMNMLVDIFLGSKSAKIQSGIFGKGSAYSRH
NAERLFKKLILDKILDEDLYINANDQAIAYVMLGNKAQTVLNGNLKVDFMETENSSSVKK
QKALVAKVSQREEMVKKCLGELTEVCKSLGKVFGVHYFNIFNTVTLKKLAESLSSDPEVL
LQIDGVTEDKLEKYGAEVISVLQKYSEWTSPAEDSSPGISLSSSRGPGRSAAEELDEEIP
VSSHYFASKTRNERKRKKMPASQRSKRRKTASSGSKAKGGSATCRKISSKTKSSSIIGSS
SASHTSQATSGANSKLGIMAPPKPINRPFLKPSYAFS
NT seq 4254 nt   +upstreamnt  +downstreamnt
atggctgctgttcctcaaaataatctacaggagcaactagaacgtcactcagccagaaca
cttaataataaattaagtctttcaaaaccaaaattttcaggtttcacttttaaaaagaaa
acatcttcagataacaatgtatctgtaactaatgtgtcagtagcaaaaacacctgtatta
agaaataaagatgttaatgttaccgaagacttttccttcagtgaacctctacccaacacc
acaaatcagcaaagggtcaaggacttctttaaaaatgctccagcaggacaggaaacacag
agaggtggatcaaaatcattattgccagatttcttgcagactccgaaggaagttgtatgc
actacccaaaacacaccaactgtaaagaaatcccgggatactgctctcaagaaattagaa
tttagttcttcaccagattctttaagtaccatcaatgattgggatgatatggatgacttt
gatacttctgagacttcaaaatcatttgttacaccaccccaaagtcactttgtaagagta
agcactgctcagaaatcaaaaaagggtaagagaaacttttttaaagcacagctttataca
acaaacacagtaaagactgatttgcctccaccctcctctgaaagcgagcaaatagatttg
actgaggaacagaaggatgactcagaatggttaagcagcgatgtgatttgcatcgatgat
ggccccattgctgaagtgcatataaatgaagatgctcaggaaagtgactctctgaaaact
catttggaagatgaaagagataatagcgaaaagaagaagaatttggaagaagctgaatta
cattcaactgagaaagttccatgtattgaatttgatgatgatgattatgatacggatttt
gttccaccttctccagaagaaattatttctgcttcttcttcctcttcaaaatgccttagt
acgttaaaggaccttgacacctctgacagaaaagaggatgttcttagcacatcaaaagat
cttttgtcaaaacctgagaaaatgagtatgcaggagctgaatccagaaaccagcacagac
tgtgacgctagacagataagtttacagcagcagcttattcatgtgatggagcacatctgt
aaattaattgatactattcctgatgataaactgaaacttttggattgtgggaacgaactg
cttcagcagcggaacataagaaggaaacttctaacggaagtagattttaataaaagtgat
gccagtcttcttggctcattgtggagatacaggcctgattcacttgatggccctatggag
ggtgattcctgccctacagggaattctatgaaggagttaaatttttcacaccttccctca
aattctgtttctcctggggactgtttactgactaccaccctaggaaagacaggattctct
gccaccaggaagaatctttttgaaaggcctttattcaatacccatttacagaagtccttt
gtaagtagcaactgggctgaaacaccaagactaggaaaaaaaaatgaaagctcttatttc
ccaggaaatgttctcacaagcactgctgtgaaagatcagaataaacatactgcttcaata
aatgacttagaaagagaaacccaaccttcctatgatattgataattttgacatagatgac
tttgatgatgatgatgactgggaagacataatgcataatttagcagccagcaaatcttcc
acagctgcctatcaacccatcaaggaaggtcggccaattaaatcagtatcagaaagactt
tcctcagccaagacagactgtcttccagtgtcatctactgctcaaaatataaacttctca
gagtcaattcagaattatactgacaagtcagcacaaaatttagcatccagaaatctgaaa
catgagcgtttccaaagtcttagttttcctcatacaaaggaaatgatgaagatttttcat
aaaaaatttggcctgcataattttagaactaatcagctagaggcgatcaatgctgcactg
cttggtgaagactgttttatcctgatgccgactggaggtggtaagagtttgtgttaccag
ctccctgcctgtgtttctcctggggtcactgttgtcatttctcccttgagatcacttatc
gtagatcaagtccaaaagctgacttccttggatattccagctacatatctgacaggtgat
aagactgactcagaagctacaaatatttacctccagttatcaaaaaaagacccaatcata
aaacttctatatgtcactccagaaaagatctgtgcaagtaacagactcatttctactctg
gagaatctctatgagaggaagctcttggcacgttttgttattgatgaagcacattgtgtc
agtcagtggggacatgattttcgtcaagattacaaaagaatgaatatgcttcgccagaag
tttccttctgttccggtgatggctcttacggccacagctaatcccagggtacagaaggac
atcctgactcagctgaagattctcagacctcaggtgtttagcatgagctttaacagacat
aatctgaaatactatgtattaccgaaaaagcctaaaaaggtggcatttgattgcctagaa
tggatcagaaagcaccacccatatgattcagggataatttactgcctctccaggcgagaa
tgtgacaccatggctgacacgttacagagagatgggctcgctgctcttgcttaccatgct
ggcctcagtgattctgccagagatgaagtgcagcagaagtggattaatcaggatggctgt
caggttatctgtgctacaattgcatttggaatggggattgacaaaccggacgtgcgattt
gtgattcatgcatctctccctaaatctgtggagggttactaccaagaatctggcagagct
ggaagagatggggaaatatctcactgcctgcttttctatacctatcatgatgtgaccaga
ctgaaaagacttataatgatggaaaaagatggaaaccatcatacaagagaaactcacttc
aataatttgtatagcatggtacattactgtgaaaatataacggaatgcaggagaatacag
cttttggcctactttggtgaaaatggatttaatcctgatttttgtaagaaacacccagat
gtttcttgtgataattgctgtaaaacaaaggattataaaacaagagatgtgactgacgat
gtgaaaagtattgtaagatttgttcaagaacatagttcatcacaaggaatgagaaatata
aaacatgtaggtccttctggaagatttactatgaatatgctggtcgacattttcttgggg
agtaagagtgcaaaaatccagtcaggtatatttggaaaaggatctgcttattcacgacac
aatgccgaaagactttttaaaaagctgatacttgacaagattttggatgaagacttatat
atcaatgccaatgaccaggcgatcgcttatgtgatgctcggaaataaagcccaaactgta
ctaaatggcaatttaaaggtagactttatggaaacagaaaattccagcagtgtgaaaaaa
caaaaagcgttagtagcaaaagtgtctcagagggaagagatggttaaaaaatgtcttgga
gaacttacagaagtctgcaaatctctggggaaagtttttggtgtccattacttcaatatt
tttaataccgtcactctcaagaagcttgcagaatctttatcttctgatcctgaggttttg
cttcaaattgatggtgttactgaagacaaactggaaaaatatggtgcggaagtgatttca
gtattacagaaatactctgaatggacatcgccagctgaagacagttccccagggataagc
ctgtccagcagcagaggccccggaagaagtgccgctgaggagctcgacgaggaaataccc
gtatcttcccactactttgcaagtaaaaccagaaatgaaaggaagaggaaaaagatgcca
gcctcccaaaggtctaagaggagaaaaactgcttccagtggttccaaggcaaaggggggg
tctgccacatgtagaaagatatcttccaaaacgaaatcctccagcatcattggatccagt
tcagcctcacatacttctcaagcgacatcaggagccaatagcaaattggggattatggct
ccaccgaagcctataaatagaccgtttcttaagccttcatatgcattctcataa

KEGG   Homo sapiens (human): 7486
Entry
7486              CDS       T01001                                 
Symbol
WRN, RECQ3, RECQL2, RECQL3
Name
(RefSeq) WRN RecQ like helicase
  KO
K10900  werner syndrome ATP-dependent helicase [EC:5.6.2.4]
Organism
hsa  Homo sapiens (human)
Network
nt06506  Double-strand break repair
  Element
N01446  DNA end resection and RPA loading
Disease
H00296  Defects in RecQ helicases
H01733  Werner syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03032 DNA replication proteins [BR:hsa03032]
    7486 (WRN)
   03400 DNA repair and recombination proteins [BR:hsa03400]
    7486 (WRN)
Enzymes [BR:hsa01000]
 5. Isomerases
  5.6  Isomerases altering macromolecular conformation
   5.6.2  Enzymes altering nucleic acid conformation
    5.6.2.4  DNA 3'-5' helicase
     7486 (WRN)
DNA replication proteins [BR:hsa03032]
 Eukaryotic type
  DNA Replication Termination Factors
   Other termination factors
    7486 (WRN)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic type
  DSBR (double strand breaks repair)
   HR (homologous recombination)
    RecQ family DNA helicases
     7486 (WRN)
SSDB
Motif
Pfam: DNA_pol_A_exo1 DEAD Helicase_C HTH_40 RQC HRDC RecQ_Zn_bind ResIII Laminin_II SAM_GIDA_C
Other DBs
NCBI-GeneID: 7486
NCBI-ProteinID: NP_000544
OMIM: 604611
HGNC: 12791
Ensembl: ENSG00000165392
UniProt: Q14191
Structure
LinkDB
Position
8:31033810..31176138
AA seq 1432 aa
MSEKKLETTAQQRKCPEWMNVQNKRCAVEERKACVRKSVFEDDLPFLEFTGSIVYSYDAS
DCSFLSEDISMSLSDGDVVGFDMEWPPLYNRGKLGKVALIQLCVSESKCYLFHVSSMSVF
PQGLKMLLENKAVKKAGVGIEGDQWKLLRDFDIKLKNFVELTDVANKKLKCTETWSLNSL
VKHLLGKQLLKDKSIRCSNWSKFPLTEDQKLYAATDAYAGFIIYRNLEILDDTVQRFAIN
KEEEILLSDMNKQLTSISEEVMDLAKHLPHAFSKLENPRRVSILLKDISENLYSLRRMII
GSTNIETELRPSNNLNLLSFEDSTTGGVQQKQIREHEVLIHVEDETWDPTLDHLAKHDGE
DVLGNKVERKEDGFEDGVEDNKLKENMERACLMSLDITEHELQILEQQSQEEYLSDIAYK
STEHLSPNDNENDTSYVIESDEDLEMEMLKHLSPNDNENDTSYVIESDEDLEMEMLKSLE
NLNSGTVEPTHSKCLKMERNLGLPTKEEEEDDENEANEGEEDDDKDFLWPAPNEEQVTCL
KMYFGHSSFKPVQWKVIHSVLEERRDNVAVMATGYGKSLCFQYPPVYVGKIGLVISPLIS
LMEDQVLQLKMSNIPACFLGSAQSENVLTDIKLGKYRIVYVTPEYCSGNMGLLQQLEADI
GITLIAVDEAHCISEWGHDFRDSFRKLGSLKTALPMVPIVALTATASSSIREDIVRCLNL
RNPQITCTGFDRPNLYLEVRRKTGNILQDLQPFLVKTSSHWEFEGPTIIYCPSRKMTQQV
TGELRKLNLSCGTYHAGMSFSTRKDIHHRFVRDEIQCVIATIAFGMGINKADIRQVIHYG
APKDMESYYQEIGRAGRDGLQSSCHVLWAPADINLNRHLLTEIRNEKFRLYKLKMMAKME
KYLHSSRCRRQIILSHFEDKQVQKASLGIMGTEKCCDNCRSRLDHCYSMDDSEDTSWDFG
PQAFKLLSAVDILGEKFGIGLPILFLRGSNSQRLADQYRRHSLFGTGKDQTESWWKAFSR
QLITEGFLVEVSRYNKFMKICALTKKGRNWLHKANTESQSLILQANEELCPKKLLLPSSK
TVSSGTKEHCYNQVPVELSTEKKSNLEKLYSYKPCDKISSGSNISKKSIMVQSPEKAYSS
SQPVISAQEQETQIVLYGKLVEARQKHANKMDVPPAILATNKILVDMAKMRPTTVENVKR
IDGVSEGKAAMLAPLLEVIKHFCQTNSVQTDLFSSTKPQEEQKTSLVAKNKICTLSQSMA
ITYSLFQEKKMPLKSIAESRILPLMTIGMHLSQAVKAGCPLDLERAGLTPEVQKIIADVI
RNPPVNSDMSKISLIRMLVPENIDTYLIHMAIEILKHGPDSGLQPSCDVNKRRCFPGSEE
ICSSSKRSKEEVGINTETSSAERKRRLPVWFAKGSDTSKKLMDKTKRGGLFS
NT seq 4299 nt   +upstreamnt  +downstreamnt
atgagtgaaaaaaaattggaaacaactgcacagcagcggaaatgtcctgaatggatgaat
gtgcagaataaaagatgtgctgtagaagaaagaaaggcatgtgttcggaagagtgttttt
gaagatgacctccccttcttagaattcactggatccattgtgtatagttacgatgctagt
gattgctctttcctgtcagaagatattagcatgagtctatcagatggggatgtggtggga
tttgacatggagtggccaccattatacaatagagggaaacttggcaaagttgcactaatt
cagttgtgtgtttctgagagcaaatgttacttgttccacgtttcttccatgtcagttttt
ccccagggattaaaaatgttgcttgaaaataaagcagttaaaaaggcaggtgtaggaatt
gaaggagatcagtggaaacttctacgtgactttgatatcaaattgaagaattttgtggag
ttgacagatgttgccaataaaaagctgaaatgcacagagacctggagccttaacagtctg
gttaaacacctcttaggtaaacagctcctgaaagacaagtctatccgctgtagcaattgg
agtaaatttcctctcactgaggaccagaaactgtatgcagccactgatgcttatgctggt
tttattatttaccgaaatttagagattttggatgatactgtgcaaaggtttgctataaat
aaagaggaagaaatcctacttagcgacatgaacaaacagttgacttcaatctctgaggaa
gtgatggatctggctaagcatcttcctcatgctttcagtaaattggaaaacccacggagg
gtttctatcttactaaaggatatttcagaaaatctatattcactgaggaggatgataatt
gggtctactaacattgagactgaactgaggcccagcaataatttaaacttattatccttt
gaagattcaactactgggggagtacaacagaaacaaattagagaacatgaagttttaatt
cacgttgaagatgaaacatgggacccaacacttgatcatttagctaaacatgatggagaa
gatgtacttggaaataaagtggaacgaaaagaagatggatttgaagatggagtagaagac
aacaaattgaaagagaatatggaaagagcttgtttgatgtcgttagatattacagaacat
gaactccaaattttggaacagcagtctcaggaagaatatcttagtgatattgcttataaa
tctactgagcatttatctcccaatgataatgaaaacgatacgtcctatgtaattgagagt
gatgaagatttagaaatggagatgcttaagcatttatctcccaatgataatgaaaacgat
acgtcctatgtaattgagagtgatgaagatttagaaatggagatgcttaagtctttagaa
aacctcaatagtggcacggtagaaccaactcattctaaatgcttaaaaatggaaagaaat
ctgggtcttcctactaaagaagaagaagaagatgatgaaaatgaagctaatgaaggggaa
gaagatgatgataaggactttttgtggccagcacccaatgaagagcaagttacttgcctc
aagatgtactttggccattccagttttaaaccagttcagtggaaagtgattcattcagta
ttagaagaaagaagagataatgttgctgtcatggcaactggatatggaaagagtttgtgc
ttccagtatccacctgtttatgtaggcaagattggccttgttatctctccccttatttct
ctgatggaagaccaagtgctacagcttaaaatgtccaacatcccagcttgcttccttgga
tcagcacagtcagaaaatgttctaacagatattaaattaggtaaataccggattgtatac
gtaactccagaatactgttcaggtaacatgggcctgctccagcaacttgaggctgatatt
ggtatcacgctcattgctgtggatgaggctcactgtatttctgagtgggggcatgatttt
agggattcattcaggaagttgggctccctaaagacagcactgccaatggttccaatcgtt
gcacttactgctactgcaagttcttcaatccgggaagacattgtacgttgcttaaatctg
agaaatcctcagatcacctgtactggttttgatcgaccaaacctgtatttagaagttagg
cgaaaaacagggaatatccttcaggatctgcagccatttcttgtcaaaacaagttcccac
tgggaatttgaaggtccaacaatcatctactgtccttctagaaaaatgacacaacaagtt
acaggtgaacttaggaaactgaatctatcctgtggaacataccatgcgggcatgagtttt
agcacaaggaaagacattcatcataggtttgtaagagatgaaattcagtgtgtcatagct
accatagcttttggaatgggcattaataaagctgacattcgccaagtcattcattacggt
gctcctaaggacatggaatcatattatcaggagattggtagagctggtcgtgatggactt
caaagttcttgtcacgtcctctgggctcctgcagacattaacttaaataggcaccttctt
actgagatacgtaatgagaagtttcgattatacaaattaaagatgatggcaaagatggaa
aaatatcttcattctagcagatgtaggagacaaatcatcttgtctcattttgaggacaaa
caagtacaaaaagcctccttgggaattatgggaactgaaaaatgctgtgataattgcagg
tccagattggatcattgctattccatggatgactcagaggatacatcctgggactttggt
ccacaagcatttaagcttttgtctgctgtggacatcttaggcgaaaaatttggaattggg
cttccaattttatttctccgaggatctaattctcagcgtcttgccgatcaatatcgcagg
cacagtttatttggcactggcaaggatcaaacagagagttggtggaaggctttttcccgt
cagctgatcactgagggattcttggtagaagtttctcggtataacaaatttatgaagatt
tgcgcccttacgaaaaagggtagaaattggcttcataaagctaatacagaatctcagagc
ctcatccttcaagctaatgaagaattgtgtccaaagaagttgcttctgcctagttcgaaa
actgtatcttcgggcaccaaagagcattgttataatcaagtaccagttgaattaagtaca
gagaagaagtctaacttggagaagttatattcttataaaccatgtgataagatttcttct
gggagtaacatttctaaaaaaagtatcatggtacagtcaccagaaaaagcttacagttcc
tcacagcctgttatttcggcacaagagcaggagactcagattgtgttatatggcaaattg
gtagaagctaggcagaaacatgccaataaaatggatgttcccccagctattctggcaaca
aacaagatactggtggatatggccaaaatgagaccaactacggttgaaaacgtaaaaagg
attgatggtgtttctgaaggcaaagctgccatgttggcccctctgttggaagtcatcaaa
catttctgccaaacaaatagtgttcagacagacctcttttcaagtacaaaacctcaagaa
gaacagaagacgagtctggtagcaaaaaataaaatatgcacactttcacagtctatggcc
atcacatactctttattccaagaaaagaagatgcctttgaagagcatagctgagagcagg
attctgcctctcatgacaattggcatgcacttatcccaagcggtgaaagctggctgcccc
cttgatttggagcgagcaggcctgactccagaggttcagaagattattgctgatgttatc
cgaaaccctcccgtcaactcagatatgagtaaaattagcctaatcagaatgttagttcct
gaaaacattgacacgtaccttatccacatggcaattgagatccttaaacatggtcctgac
agcggacttcaaccttcatgtgatgtcaacaaaaggagatgttttcccggttctgaagag
atctgttcaagttctaagagaagcaaggaagaagtaggcatcaatactgagacttcatct
gcagagagaaagagacgattacctgtgtggtttgccaaaggaagtgataccagcaagaaa
ttaatggacaaaacgaaaaggggaggtctttttagttaa

KEGG   Homo sapiens (human): 1763
Entry
1763              CDS       T01001                                 
Symbol
DNA2, DNA2L, RTS4, hDNA2
Name
(RefSeq) DNA replication helicase/nuclease 2
  KO
K10742  DNA replication ATP-dependent helicase/nuclease Dna2 [EC:5.6.2.3 3.1.-.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa03030  DNA replication
Network
nt06506  Double-strand break repair
nt06509  DNA replication
  Element
N01446  DNA end resection and RPA loading
N01472  Okazaki fragment maturation
Disease
H00992  Seckel syndrome
H01118  Progressive external ophthalmoplegia
H01734  Rothmund-Thomson syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09124 Replication and repair
   03030 DNA replication
    1763 (DNA2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03032 DNA replication proteins [BR:hsa03032]
    1763 (DNA2)
Enzymes [BR:hsa01000]
 5. Isomerases
  5.6  Isomerases altering macromolecular conformation
   5.6.2  Enzymes altering nucleic acid conformation
    5.6.2.3  DNA 5'-3' helicase
     1763 (DNA2)
DNA replication proteins [BR:hsa03032]
 Eukaryotic type
  DNA Replication Elongation Factors
   Other elongation factors
    1763 (DNA2)
 Prokaryotic type
   Elongation factors (archaeal)
    Other elongation factors
     1763 (DNA2)
SSDB
Motif
Pfam: Dna2 AAA_12 Dna2_Rift AAA_11 AAA_30 AAA_19 nSTAND3 UvrD-helicase SRP54 bpMoxR DEAD Cas_Cas4 ResIII AAA_25 CbiA SLFN-g3_helicase UvrD_C_2 MobB AAA_22 AAA_7 PhoH AAA
Other DBs
NCBI-GeneID: 1763
NCBI-ProteinID: NP_001073918
OMIM: 601810
HGNC: 2939
Ensembl: ENSG00000138346
UniProt: P51530
Structure
LinkDB
Position
10:complement(68414064..68472521)
AA seq 1060 aa
MEQLNELELLMEKSFWEEAELPAELFQKKVVASFPRTVLSTGMDNRYLVLAVNTVQNKEG
NCEKRLVITASQSLENKELCILRNDWCSVPVEPGDIIHLEGDCTSDTWIIDKDFGYLILY
PDMLISGTSIASSIRCMRRAVLSETFRSSDPATRQMLIGTVLHEVFQKAINNSFAPEKLQ
ELAFQTIQEIRHLKEMYRLNLSQDEIKQEVEDYLPSFCKWAGDFMHKNTSTDFPQMQLSL
PSDNSKDNSTCNIEVVKPMDIEESIWSPRFGLKGKIDVTVGVKIHRGYKTKYKIMPLELK
TGKESNSIEHRSQVVLYTLLSQERRADPEAGLLLYLKTGQMYPVPANHLDKRELLKLRNQ
MAFSLFHRISKSATRQKTQLASLPQIIEEEKTCKYCSQIGNCALYSRAVEQQMDCSSVPI
VMLPKIEEETQHLKQTHLEYFSLWCLMLTLESQSKDNKKNHQNIWLMPASEMEKSGSCIG
NLIRMEHVKIVCDGQYLHNFQCKHGAIPVTNLMAGDRVIVSGEERSLFALSRGYVKEINM
TTVTCLLDRNLSVLPESTLFRLDQEEKNCDIDTPLGNLSKLMENTFVSKKLRDLIIDFRE
PQFISYLSSVLPHDAKDTVACILKGLNKPQRQAMKKVLLSKDYTLIVGMPGTGKTTTICT
LVRILYACGFSVLLTSYTHSAVDNILLKLAKFKIGFLRLGQIQKVHPAIQQFTEQEICRS
KSIKSLALLEELYNSQLIVATTCMGINHPIFSRKIFDFCIVDEASQISQPICLGPLFFSR
RFVLVGDHQQLPPLVLNREARALGMSESLFKRLEQNKSAVVQLTVQYRMNSKIMSLSNKL
TYEGKLECGSDKVANAVINLRHFKDVKLELEFYADYSDNPWLMGVFEPNNPVCFLNTDKV
PAPEQVEKGGVSNVTEAKLIVFLTSIFVKAGCSPSDIGIIAPYRQQLKIINDLLARSIGM
VEVNTVDKYQGRDKSIVLVSFVRSNKDGTVGELLKDWRRLNVAITRAKHKLILLGCVPSL
NCYPPLEKLLNHLNSEKLIIDLPSREHESLCHILGDFQRE
NT seq 3183 nt   +upstreamnt  +downstreamnt
atggagcagctgaacgaactggagctgctgatggagaagagtttttgggaggaggcggag
ctgccggcggagctatttcagaagaaagtggtagcttcctttccaagaacagttctgagc
acaggaatggataaccggtacctggtgttggcagtcaatactgtacagaacaaagaggga
aactgtgaaaagcgcctggtcatcactgcttcacagtcactagaaaataaagaactatgc
atccttaggaatgactggtgttctgttccagtagagccaggagatatcattcatttggag
ggagactgcacatctgacacttggataatagataaagattttggatatttgattctgtat
ccagacatgctgatttctggcaccagcatagccagtagtattcgatgtatgagaagagct
gtcctgagtgaaacttttaggagctctgatccagccacacgccaaatgctaattggtacg
gttctccatgaggtgtttcaaaaagccataaataatagctttgccccagaaaagctacaa
gaacttgcttttcaaacaattcaagaaataagacatttgaaggaaatgtaccgcttaaat
ctaagtcaagatgaaataaaacaagaagtagaggactatcttccttcgttttgtaaatgg
gcaggagatttcatgcataaaaacacttcgactgacttccctcagatgcagctctctctg
ccaagtgataatagtaaggataattcaacatgtaacattgaagtcgtgaaaccaatggat
attgaagaaagcatttggtcccctaggtttggattgaaaggcaaaatagatgttacagtt
ggtgtgaaaatacatcgagggtataaaacaaaatacaagataatgccgctggaacttaaa
actggcaaagaatcaaattctattgaacaccgtagtcaggttgttctgtacactctacta
agccaagagagaagagctgatccagaggctggcttgcttctctacctcaagactggtcag
atgtaccctgtgcctgccaaccatctagataaaagagaattattaaagctaagaaaccag
atggcattctcattgtttcaccgtattagcaaatctgctactagacagaagacacagctt
gcttctttgccacaaataattgaggaagagaaaacttgtaaatattgttcacaaattggc
aattgtgctctttatagcagagcagttgaacaacagatggattgtagttcagtcccaatt
gtgatgctgcccaaaatagaagaagaaacccagcatctgaagcaaacacacttagaatat
ttcagcctttggtgtctaatgttaaccctggagtcacaatcgaaggataataaaaagaat
caccaaaatatctggctaatgcctgcttcggaaatggagaagagtggcagttgcattgga
aacctgattagaatggaacatgtaaagatagtttgtgatgggcaatatttacataatttc
caatgtaaacatggtgccatacctgtcacaaatctaatggcaggtgacagagttattgta
agtggagaagaaaggtcactgtttgctttgtctagaggatatgtgaaggagattaacatg
acaacagtaacttgtttattagacagaaacttgtcggtccttccagaatcaactttgttc
agattagaccaagaagaaaaaaattgtgatatagataccccattaggaaatctttccaaa
ttgatggaaaacacgtttgtcagcaaaaaacttcgagatttaattattgactttcgtgaa
cctcagtttatatcctaccttagttctgttcttccacatgatgcaaaggatacagttgcc
tgcattctaaagggtttgaataagcctcagaggcaagcgatgaaaaaggtacttctttca
aaagactacacactcatcgtgggtatgcctgggacaggaaaaacaactacgatatgtact
ctcgtaagaattctctacgcctgtggttttagcgttttgttgaccagctatacacactct
gctgttgacaatattcttttgaagttagccaagtttaaaataggatttttgcgtttgggt
cagattcagaaggttcatccagctatccagcaatttacagagcaagaaatttgcagatca
aagtccattaaatccttagctcttctagaagaactctacaatagtcaacttatagttgca
acaacatgtatgggaataaaccatccaatattttcccgtaaaatttttgatttttgtatt
gtggatgaagcctctcaaattagccaaccaatttgtctgggccccctttttttttcacgg
agatttgtgttagtgggggaccatcagcagcttcctcccctggtgctaaaccgtgaagca
agagctcttggcatgagtgaaagcttattcaagaggctggagcagaataagagtgctgtt
gtacagttaaccgtgcagtacagaatgaacagtaaaattatgtccttaagtaataagctg
acctatgagggcaagctggagtgtggatcagacaaagtggccaatgcagtgataaaccta
cgtcactttaaagatgtgaagctggaactggaattttatgctgactattctgataatcct
tggttgatgggagtatttgaacccaacaatcctgtttgtttccttaatacagacaaggtt
ccagcgccagaacaagttgaaaaaggtggtgtgagcaatgtaacagaagccaaactcata
gttttcctaacctccatttttgttaaggctggatgcagtccctctgatattggtattatt
gcaccgtacaggcagcaattaaagatcatcaatgatttattggcacgttctattgggatg
gtcgaagttaatacagtagacaaataccaaggaagggacaaaagtattgtcctagtatct
tttgttagaagtaataaggatggaactgttggtgaactcttgaaagattggcgacgtctt
aatgttgctataaccagagccaaacataaactgattcttctggggtgtgtgccctcacta
aattgctatcctcctttggagaagctgcttaatcatttaaactcagaaaaattaatcatt
gatcttccatcaagagaacatgaaagtctttgccacatattgggtgactttcaaagagaa
taa

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 AAA_15 ABC_tran 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, hNbs1
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

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