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Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000057 Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA. GenEZ ORF Cloning On-demand $1699.00 25

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RefSeq Version NM_000057.2, 105990533
Length 4528 bp
Structure linear
Update Date 14-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.
Product Bloom syndrome protein
Comment

Summary: The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008].

RefSeq NP_000048.1
CDS 98..4351
Misc Feature(1)179..181
Misc Feature(2)179..181
Misc Feature(3)239..241
Misc Feature(4)266..268
Misc Feature(5)437..439
Misc Feature(6)599..601
Misc Feature(7)608..610
Misc Feature(8)1169..1171
Misc Feature(9)1208..1330
Misc Feature(10)1352..1354
Misc Feature(11)1352..1354
Misc Feature(12)1361..1363
Misc Feature(13)1361..1363
Misc Feature(14)1373..1375
Misc Feature(15)1403..1405
Misc Feature(16)1592..1594
Misc Feature(17)1619..1621
Misc Feature(18)2066..3526
Misc Feature(19)2144..2593
Misc Feature(20)2171..2185
Misc Feature(21)2180..2182
Misc Feature(22)2480..2491
Misc Feature(23)2480..2491
Misc Feature(24)2684..2686
Misc Feature(25)2723..3073
Misc Feature(26)order(2783..2794,2852..2857,2933..2941)
Misc Feature(27)order(2957..2959,3020..3022,3032..3034,3041..3043)
Misc Feature(28)3323..3640
Misc Feature(29)3734..3973
Misc Feature(30)3980..3982
Misc Feature(31)3983..3985
Misc Feature(32)3983..3985
Misc Feature(33)4025..4027
Misc Feature(34)4097..4144
Exon (1)1..93
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (2)94..195
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (3)196..896
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (4)897..1056
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (5)1057..1184
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (6)1185..1317
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (7)1318..1979
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (8)1980..2171
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (9)2172..2290
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (10)2291..2404
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (11)2405..2503
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (12)2504..2652
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (13)2653..2759
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (14)2760..2920
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (15)2921..3116
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (16)3117..3307
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (17)3308..3455
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (18)3456..3655
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (19)3656..3848
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (20)3849..3971
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (21)3972..4173
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (22)4174..4528
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Translation MAAVPQNNLQEQLERHSARTLNNKLSLSKPKFSGFTFKKKTSSDNNVSVTNVSVAKTPVL RNKDVNVTEDFSFSEPLPNTTNQQRVKDFFKNAPAGQETQRGGSKSLLPDFLQTPKEVVC TTQNTPTVKKSRDTALKKLEFSSSPDSLSTINDWDDMDDFDTSETSKSFVTPPQSHFVRV STAQKSKKGKRNFFKAQLYTTNTVKTDLPPPSSESEQIDLTEEQKDDSEWLSSDVICIDD GPIAEVHINEDAQESDSLKTHLEDERDNSEKKKNLEEAELHSTEKVPCIEFDDDDYDTDF VPPSPEEIISASSSSSKCLSTLKDLDTSDRKEDVLSTSKDLLSKPEKMSMQELNPETSTD CDARQISLQQQLIHVMEHICKLIDTIPDDKLKLLDCGNELLQQRNIRRKLLTEVDFNKSD ASLLGSLWRYRPDSLDGPMEGDSCPTGNSMKELNFSHLPSNSVSPGDCLLTTTLGKTGFS ATRKNLFERPLFNTHLQKSFVSSNWAETPRLGKKNESSYFPGNVLTSTAVKDQNKHTASI NDLERETQPSYDIDNFDIDDFDDDDDWEDIMHNLAASKSSTAAYQPIKEGRPIKSVSERL SSAKTDCLPVSSTAQNINFSESIQNYTDKSAQNLASRNLKHERFQSLSFPHTKEMMKIFH KKFGLHNFRTNQLEAINAALLGEDCFILMPTGGGKSLCYQLPACVSPGVTVVISPLRSLI VDQVQKLTSLDIPATYLTGDKTDSEATNIYLQLSKKDPIIKLLYVTPEKICASNRLISTL ENLYERKLLARFVIDEAHCVSQWGHDFRQDYKRMNMLRQKFPSVPVMALTATANPRVQKD ILTQLKILRPQVFSMSFNRHNLKYYVLPKKPKKVAFDCLEWIRKHHPYDSGIIYCLSRRE CDTMADTLQRDGLAALAYHAGLSDSARDEVQQKWINQDGCQVICATIAFGMGIDKPDVRF VIHASLPKSVEGYYQESGRAGRDGEISHCLLFYTYHDVTRLKRLIMMEKDGNHHTRETHF NNLYSMVHYCENITECRRIQLLAYFGENGFNPDFCKKHPDVSCDNCCKTKDYKTRDVTDD VKSIVRFVQEHSSSQGMRNIKHVGPSGRFTMNMLVDIFLGSKSAKIQSGIFGKGSAYSRH NAERLFKKLILDKILDEDLYINANDQAIAYVMLGNKAQTVLNGNLKVDFMETENSSSVKK QKALVAKVSQREEMVKKCLGELTEVCKSLGKVFGVHYFNIFNTVTLKKLAESLSSDPEVL LQIDGVTEDKLEKYGAEVISVLQKYSEWTSPAEDSSPGISLSSSRGPGRSAAEELDEEIP VSSHYFASKTRNERKRKKMPASQRSKRRKTASSGSKAKGGSATCRKISSKTKSSSIIGSS SASHTSQATSGANSKLGIMAPPKPINRPFLKPSYAFS
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Position Chain Variation Link
63..64+dbSNP:
63..64+, gdbSNP:35719443
101+g, tdbSNP:199769364
105+c, gdbSNP:200399224
108+c, tdbSNP:144706057
140+c, tdbSNP:148545569
195+c, tdbSNP:139282091
275+dbSNP:
275+a, tdbSNP:138542210
283+g, tdbSNP:146735953
288+a, tdbSNP:140382474
300+a, cdbSNP:144134597
301+c, tdbSNP:199927688
310+c, tdbSNP:192848234
311+g, tdbSNP:146521411
351+c, gdbSNP:141503266
371+a, gdbSNP:200690226
372+, adbSNP:367543027
408+a, cdbSNP:367543030
507+a, gdbSNP:28384988
516+a, gdbSNP:35886055
547+c, tdbSNP:148861300
562+c, tdbSNP:185349681
576+c, tdbSNP:147084654
614..615+, cdbSNP:67746584
654..656+, caadbSNP:367543035
679+, tdbSNP:367543026
712+a, gdbSNP:28903082
742+c, tdbSNP:56218710
752+c, gdbSNP:190228320
793+a, cdbSNP:201845548
796+c, tdbSNP:200125311
812+c, gdbSNP:200756519
819+a, gdbSNP:200897029
824+a, gdbSNP:201722470
825+c, tdbSNP:200000438
856+a, gdbSNP:34580216
857+a, gdbSNP:181892828
869..870+, ctdbSNP:367543013
877+c, tdbSNP:55763079
902+dbSNP:
902+a, gdbSNP:141411463
904+c, tdbSNP:147850738
913+a, gdbSNP:139295905
939+a, cdbSNP:202042636
944+a, gdbSNP:149598003
979+c, tdbSNP:201168622
980+g, tdbSNP:146096923
985+c, tdbSNP:139277089
990+c, tdbSNP:28384991
1065+dbSNP:
1065+a, gdbSNP:146504061
1078+a, cdbSNP:1140119
1083+a, gdbSNP:111400261
1120+c, tdbSNP:28385006
1129+a, tdbSNP:148701303
1141+a, gdbSNP:184657475
1184+a, gdbSNP:200364297
1219+dbSNP:
1219+c, tdbSNP:28385009
1251+a, cdbSNP:202009716
1291+c, tdbSNP:202103556
1298+c, tdbSNP:151150267
1325+dbSNP:
1325+c, tdbSNP:200688933
1405+c, tdbSNP:140178590
1412+a, gdbSNP:201231857
1445+a, gdbSNP:200385935
1516+c, tdbSNP:200051680
1564+a, gdbSNP:56257041
1616+a, gdbSNP:192491153
1641..1642+, adbSNP:367543043
1698+a, gdbSNP:35224686
1725+a, tdbSNP:367543038
1739+c, tdbSNP:200389141
1819+a, gdbSNP:28385011
1869+a, gdbSNP:28385012
1881+a, cdbSNP:138943954
1882+a, tdbSNP:79871543
1898+c, tdbSNP:191089903
1978+c, tdbSNP:148678729
2021+dbSNP:
2021+a, gdbSNP:201458487
2025+a, gdbSNP:12720097
2070+c, tdbSNP:187379039
2075+c, tdbSNP:139688226
2146+a, gdbSNP:201440695
2167+a, gdbSNP:148078150
2195+dbSNP:
2195+c, tdbSNP:367543028
2212+c, tdbSNP:142787700
2216+c, tdbSNP:146077918
2247+c, gdbSNP:28406486
2257+c, tdbSNP:28385028
2304..2309+dbSNP:
2304..2309+, atctga, tagattcdbSNP:113993962
2353+c, gdbSNP:61752785
2360+a, gdbSNP:142551229
2365+a, gdbSNP:146013879
2390+a, gdbSNP:191789336
2430+dbSNP:
2430+c, gdbSNP:139610577
2459+a, c, tdbSNP:149754073
2468+c, tdbSNP:55880859
2504..2505+dbSNP:
2504..2505+, tdbSNP:367543012
2504+c, tdbSNP:148394770
2529+a, gdbSNP:145029382
2572+a, gdbSNP:147587050
2585..2586+, adbSNP:367543019
2603..2604+, agdbSNP:367543024
2612+a, gdbSNP:201427280
2625+c, tdbSNP:137853152
2668+dbSNP:
2668+c, tdbSNP:182115037
2700+c, tdbSNP:2227935
2716+c, gdbSNP:146723808
2735+c, gdbSNP:201770808
2740+a, gdbSNP:367543039
2783+dbSNP:
2783+c, tdbSNP:151309611
2827+a, gdbSNP:137913789
2862+c, tdbSNP:201432297
2893+a, gdbSNP:55691621
2935+dbSNP:
2935+a, gdbSNP:200850440
2936+a, gdbSNP:189925962
2952+g, tdbSNP:367543034
2953+a, gdbSNP:140559841
2965+a, gdbSNP:199861261
2984+c, tdbSNP:367543023
2995+c, gdbSNP:201220226
3012+g, tdbSNP:150475674
3016+c, tdbSNP:181161119
3020+, cdbSNP:367543014
3052+a, cdbSNP:138329850
3080+c, tdbSNP:142723411
3110+a, gdbSNP:201829983
3138+dbSNP:
3138+a, gdbSNP:145022945
3141+c, tdbSNP:202196488
3168+a, gdbSNP:201676342
3199+a, c, g, tdbSNP:2227933
3204+g, tdbSNP:137853153
3225+a, cdbSNP:2229035
3261+c, gdbSNP:367543029
3288+a, tdbSNP:367543032
3294+a, gdbSNP:367543025
3318+dbSNP:
3318+c, tdbSNP:144021705
3320..3321+, adbSNP:367543022
3322+a, gdbSNP:7171673
3334+c, tdbSNP:148237075
3352..3353+, tdbSNP:367543037
3375+c, gdbSNP:367543017
3407+a, gdbSNP:141269464
3408+a, gdbSNP:150784889
3411+c, tdbSNP:200993043
3452+c, tdbSNP:201847046
3455+a, gdbSNP:139773499
3494+dbSNP:
3494+a, gdbSNP:145027663
3523+c, tdbSNP:147148171
3524+a, gdbSNP:140387675
3572..3573+, ttdbSNP:367543033
3628+a, cdbSNP:2227934
3637+a, cdbSNP:145524919
3684+dbSNP:
3684+, gdbSNP:367543018
3689+a, gdbSNP:142928725
3699..3700+, adbSNP:72209418
3706+a, gdbSNP:151114049
3710+a, gdbSNP:28385141
3722+a, tdbSNP:1801256
3734+a, gdbSNP:28385142
3778+, adbSNP:367543020
3824..3825+, adbSNP:367543021
3843+, tdbSNP:67004655
3866+dbSNP:
3866+c, gdbSNP:144964365
3895+g, tdbSNP:138831180
3944+c, tdbSNP:367543031
3946+a, gdbSNP:140524886
3976+dbSNP:
3976+a, gdbSNP:28377085
4018+c, tdbSNP:149286215
4042+a, c, g, tdbSNP:1063147
4048+a, gdbSNP:138188609
4057+c, tdbSNP:56009845
4058+a, gdbSNP:7167216
4082+a, gdbSNP:190652985
4088+a, gdbSNP:150631940
4108+a, gdbSNP:142063329
4119+c, tdbSNP:201149857
4145..4146+, ctdbSNP:200699323
4147+c, tdbSNP:200346177
4210+dbSNP:
4210+a, gdbSNP:61754135
4219+c, tdbSNP:145277875
4221+a, gdbSNP:139115275
4248+a, gdbSNP:199592406
4256+a, tdbSNP:183438014
4428+a, tdbSNP:116293756
4459+c, tdbSNP:28363374
Gene SymbolBLM
Gene SynonymBS; RECQ2; RECQL2; RECQL3
Chromosome15
Locus Map15q26.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000057 Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA. On-demand $1699.00 25
Title The associations between single nucleotide polymorphisms of DNA repair genes, DNA damage, and age-related cataract: Jiangsu Eye Study .
Author Su,S., Yao,Y., Zhu,R., Liang,C., Jiang,S., Hu,N., Zhou,J., Yang,M., Xing,Q. and Guan,H.
Journal Invest. Ophthalmol. Vis. Sci. 54 (2), 1201-1207 (2013)
Title Non-Bloom syndrome-associated partial and total loss-of-function variants of BLM helicase .
Author Mirzaei,H. and Schmidt,K.H.
Journal Proc. Natl. Acad. Sci. U.S.A. 109 (47), 19357-19362 (2012)
Title The roles of WRN and BLM RecQ helicases in the Alternative Lengthening of Telomeres .
Author Mendez-Bermudez,A., Hidalgo-Bravo,A., Cotton,V.E., Gravani,A., Jeyapalan,J.N. and Royle,N.J.
Journal Nucleic Acids Res. 40 (21), 10809-10820 (2012)
Title Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles .
Author Thompson,E.R., Doyle,M.A., Ryland,G.L., Rowley,S.M., Choong,D.Y., Tothill,R.W., Thorne,H., Barnes,D.R., Li,J., Ellul,J., Philip,G.K., Antill,Y.C., James,P.A., Trainer,A.H., Mitchell,G. and Campbell,I.G.
Journal PLoS Genet. 8 (9), E1002894 (2012)
Title Bloom's syndrome and PICH helicases cooperate with topoisomerase IIalpha in centromere disjunction before anaphase .
Author Rouzeau,S., Cordelieres,F.P., Buhagiar-Labarchede,G., Hurbain,I., Onclercq-Delic,R., Gemble,S., Magnaghi-Jaulin,L., Jaulin,C. and Amor-Gueret,M.
Journal PLoS ONE 7 (4), E33905 (2012)
Title The Bloom's syndrome gene product is a 3'-5' DNA helicase .
Author Karow,J.K., Chakraverty,R.K. and Hickson,I.D.
Journal J. Biol. Chem. 272 (49), 30611-30614 (1997)
Title Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome .
Author Foucault,F., Vaury,C., Barakat,A., Thibout,D., Planchon,P., Jaulin,C., Praz,F. and Amor-Gueret,M.
Journal Hum. Mol. Genet. 6 (9), 1427-1434 (1997)
Title The Bloom's syndrome gene product is homologous to RecQ helicases .
Author Ellis,N.A., Groden,J., Ye,T.Z., Straughen,J., Lennon,D.J., Ciocci,S., Proytcheva,M. and German,J.
Journal Cell 83 (4), 655-666 (1995)
Title Bloom syndrome: an analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1 .
Author German,J., Roe,A.M., Leppert,M.F. and Ellis,N.A.
Journal Proc. Natl. Acad. Sci. U.S.A. 91 (14), 6669-6673 (1994)
Title Elevated sister chromatid exchange phenotype of Bloom syndrome cells is complemented by human chromosome 15 .
Author McDaniel,L.D. and Schultz,R.A.
Journal Proc. Natl. Acad. Sci. U.S.A. 89 (17), 7968-7972 (1992)


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