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
Class
Genetic Information Processing; Replication and repair; Homologous recombination [PATH:hsa03440]
Genetic Information Processing; Replication and repair; Fanconi anemia pathway [PATH:hsa03460]
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
LinkDB All DBs
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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