KEGG   Homo sapiens (human): 641Help
Entry
641               CDS       T01001                                 

Gene name
BLM, BS, RECQ2, RECQL2, RECQL3
Definition
Bloom syndrome, RecQ helicase-like (EC:3.6.4.12)
Orthology
K10901  
bloom syndrome protein [EC:3.6.4.12]
Organism
hsa  Homo sapiens (human)
Pathway
Homologous recombination
Fanconi anemia pathway
Module
BRCA1-associated genome surveillance complex (BASC)
Bloom's syndrome complex
Disease
H00094  
Immunodeficiency associated with DNA repair defects
H00296  
Defects in RecQ helicases
H01346  
Bloom syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Genetic Information Processing
  Replication and repair
   03440 Homologous recombination
    641 (BLM)
   03460 Fanconi anemia pathway
    641 (BLM)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.6  Acting on acid anhydrides
   3.6.4  Acting on acid anhydrides to facilitate cellular and subcellular movement
    3.6.4.12  DNA helicase
     641 (BLM)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Structure
PDB: 

Jmol
Position
15q26.1
AA seq 1417 aa AA seqDB search
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 NT seq  +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

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