• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), transcript variant 1, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu20445 Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand $1699.00 25
OHu20445C Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), transcript variant 1, mRNA. Customized vector On-demand $1699.00 25

*Business Day

Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_000057.3, 564730685
Length 4254 bp
Structure linear
Update Date 04-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), transcript variant 1, mRNA.
Product Bloom syndrome protein isoform 1
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].


Transcript Variant: This variant (1) encodes the longest protein (isoform 1). Variants 1 and 2 encode the same protein.


Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

RefSeq NP_000048.1
CDS 119..4372
Misc Feature(1)200..202
Misc Feature(2)200..202
Misc Feature(3)260..262
Misc Feature(4)287..289
Misc Feature(5)458..460
Misc Feature(6)620..622
Misc Feature(7)629..631
Misc Feature(8)<686..940
Misc Feature(9)1019..1918
Misc Feature(10)1190..1192
Misc Feature(11)1229..1351
Misc Feature(12)1373..1375
Misc Feature(13)1373..1375
Misc Feature(14)1382..1384
Misc Feature(15)1382..1384
Misc Feature(16)1394..1396
Misc Feature(17)1424..1426
Misc Feature(18)1613..1615
Misc Feature(19)1640..1642
Misc Feature(20)2087..3547
Misc Feature(21)2165..2614
Misc Feature(22)2192..2206
Misc Feature(23)2201..2203
Misc Feature(24)2501..2512
Misc Feature(25)2501..2512
Misc Feature(26)2699..3094
Misc Feature(27)2705..2707
Misc Feature(28)order(2804..2815,2873..2878,2954..2962)
Misc Feature(29)order(2978..2980,3041..3043,3053..3055,3062..3064)
Misc Feature(30)3344..3661
Misc Feature(31)3755..3994
Misc Feature(32)4001..4003
Misc Feature(33)4004..4006
Misc Feature(34)4004..4006
Misc Feature(35)4046..4048
Misc Feature(36)4118..4165
Exon (1)1..114
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (2)115..216
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (3)217..917
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (4)918..1077
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (5)1078..1205
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (6)1206..1338
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (7)1339..2000
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (8)2001..2192
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (9)2193..2311
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (10)2312..2425
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (11)2426..2524
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (12)2525..2673
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (13)2674..2780
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (14)2781..2941
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (15)2942..3137
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (16)3138..3328
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (17)3329..3476
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (18)3477..3676
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (19)3677..3869
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (20)3870..3992
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (21)3993..4194
Gene:BLM
Gene Synonym:BS; RECQ2; RECQL2; RECQL3
Exon (22)4195..4555
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
84..85+dbSNP:
84..85+, gdbSNP:35719443
122+g, tdbSNP:199769364
126+c, gdbSNP:200399224
129+c, tdbSNP:144706057
136+a, gdbSNP:372771577
161+c, tdbSNP:148545569
216+c, tdbSNP:139282091
271+dbSNP:
271+c, tdbSNP:376115157
296+a, tdbSNP:138542210
304+g, tdbSNP:146735953
309+a, tdbSNP:140382474
321+a, cdbSNP:144134597
322+c, tdbSNP:199927688
331+c, tdbSNP:192848234
332+g, tdbSNP:146521411
366+a, gdbSNP:377192173
370+a, gdbSNP:370062646
372+c, gdbSNP:141503266
379+a, gdbSNP:372668612
392+a, gdbSNP:200690226
393+, adbSNP:367543027
429+a, cdbSNP:367543030
462+c, tdbSNP:371100621
463+a, gdbSNP:374578971
486+a, gdbSNP:371223446
521+g, tdbSNP:373832397
528+a, gdbSNP:28384988
537+a, gdbSNP:35886055
568+c, tdbSNP:148861300
575+c, gdbSNP:368158276
583+c, tdbSNP:185349681
597+c, tdbSNP:147084654
675..677+, caadbSNP:367543035
700+, tdbSNP:367543026
733+a, gdbSNP:28903082
763+c, tdbSNP:56218710
773+c, gdbSNP:190228320
814+a, cdbSNP:201845548
817+c, tdbSNP:200125311
833+c, gdbSNP:200756519
840+a, gdbSNP:200897029
845+a, gdbSNP:201722470
846+c, tdbSNP:200000438
877+a, gdbSNP:34580216
878+a, gdbSNP:181892828
890..891+, ctdbSNP:367543013
898+c, tdbSNP:55763079
923+dbSNP:
923+a, gdbSNP:141411463
925+c, tdbSNP:147850738
934+a, gdbSNP:139295905
960+a, cdbSNP:202042636
965+a, gdbSNP:149598003
1000+c, tdbSNP:201168622
1001+a, g, tdbSNP:146096923
1006+c, tdbSNP:139277089
1011+c, tdbSNP:28384991
1052+g, tdbSNP:372454889
1086+dbSNP:
1086+a, gdbSNP:146504061
1099+a, cdbSNP:1140119
1104+a, gdbSNP:111400261
1141+c, tdbSNP:28385006
1150+a, tdbSNP:148701303
1157+a, gdbSNP:375250788
1162+a, gdbSNP:184657475
1172+a, gdbSNP:369583279
1192+c, tdbSNP:372459059
1204+c, tdbSNP:375632163
1205+a, gdbSNP:200364297
1240+dbSNP:
1240+c, tdbSNP:28385009
1272+a, cdbSNP:202009716
1312+c, tdbSNP:202103556
1319+c, tdbSNP:151150267
1326+a, gdbSNP:375342874
1346+dbSNP:
1346+c, tdbSNP:200688933
1412+c, tdbSNP:371682827
1426+c, tdbSNP:140178590
1433+a, gdbSNP:201231857
1466+a, gdbSNP:200385935
1533+a, cdbSNP:368967327
1537+c, tdbSNP:200051680
1585+a, gdbSNP:56257041
1608+a, gdbSNP:368547042
1613+a, tdbSNP:371965329
1637+a, gdbSNP:192491153
1662..1663+, adbSNP:367543043
1719+a, gdbSNP:35224686
1746+a, tdbSNP:367543038
1760+c, tdbSNP:200389141
1839+c, tdbSNP:373986194
1840+a, gdbSNP:28385011
1867+c, gdbSNP:369660800
1890+a, gdbSNP:28385012
1902+a, cdbSNP:138943954
1903+a, tdbSNP:79871543
complement(1919)-t, cdbSNP:191089903
1972+c, tdbSNP:371519654
1981+a, gdbSNP:374965438
1995+a, tdbSNP:374569385
1999+c, tdbSNP:148678729
2042+dbSNP:
2042+a, gdbSNP:201458487
2045+c, tdbSNP:373090621
2046+a, gdbSNP:12720097
2049+a, tdbSNP:371023654
2051+c, tdbSNP:373525781
2052+a, gdbSNP:377563699
2054+a, gdbSNP:370293537
2083+c, gdbSNP:369777747
2091+c, tdbSNP:187379039
2096+c, tdbSNP:139688226
2167+a, gdbSNP:201440695
2188+a, gdbSNP:148078150
2216+dbSNP:
2216+c, tdbSNP:367543028
2233+c, tdbSNP:142787700
2237+c, tdbSNP:146077918
2268+c, gdbSNP:28406486
2278+c, tdbSNP:28385028
2325..2330+dbSNP:
2325..2330+atctga, tagattcdbSNP:113993962
2374+c, gdbSNP:61752785
2381+a, gdbSNP:142551229
2386+a, gdbSNP:146013879
2411+a, gdbSNP:191789336
2440+dbSNP:
2440+c, tdbSNP:373976033
2451+c, gdbSNP:139610577
2475+a, gdbSNP:369065966
2480+a, c, tdbSNP:149754073
2489+c, tdbSNP:55880859
2499+c, tdbSNP:373819952
2525..2526+dbSNP:
2525..2526+, tdbSNP:367543012
2525+c, tdbSNP:148394770
2550+a, gdbSNP:145029382
2551+c, tdbSNP:377542595
2593+a, gdbSNP:147587050
2606..2607+, adbSNP:367543019
2624..2625+, agdbSNP:367543024
2633+a, gdbSNP:201427280
2643+c, tdbSNP:369535442
2646+c, tdbSNP:137853152
complement(2689)-dbSNP:
complement(2689)-t, cdbSNP:182115037
2717+c, tdbSNP:370713907
2721+c, tdbSNP:2227935
2737+c, gdbSNP:146723808
2756+c, gdbSNP:201770808
2761+a, gdbSNP:367543039
2804+dbSNP:
2804+c, tdbSNP:151309611
2838+c, tdbSNP:367953471
2848+a, gdbSNP:137913789
2858+a, gdbSNP:372013507
2883+c, tdbSNP:201432297
2914+a, gdbSNP:55691621
2956+dbSNP:
2956+a, gdbSNP:200850440
2957+a, gdbSNP:189925962
2973+g, tdbSNP:367543034
2974+a, gdbSNP:140559841
2986+a, gdbSNP:199861261
3005+c, tdbSNP:367543023
3016+c, gdbSNP:201220226
3033+g, tdbSNP:150475674
3037+c, tdbSNP:181161119
3041+, cdbSNP:367543014
3073+a, cdbSNP:138329850
3093+c, tdbSNP:371418699
3101+c, tdbSNP:142723411
3131+a, gdbSNP:201829983
3149+dbSNP:
3149+a, gdbSNP:370073229
3159+a, gdbSNP:145022945
3162+c, tdbSNP:202196488
3179+a, gdbSNP:374105075
3180+a, gdbSNP:369629509
3189+a, gdbSNP:201676342
3198+g, tdbSNP:373868675
3220+a, c, g, tdbSNP:2227933
3225+g, tdbSNP:137853153
3246+a, cdbSNP:2229035
3254+a, gdbSNP:373241803
3282+c, gdbSNP:367543029
3309+a, tdbSNP:367543032
3315+a, gdbSNP:367543025
3339+dbSNP:
3339+c, tdbSNP:144021705
3341..3342+, adbSNP:367543022
3343+a, gdbSNP:7171673
3355+c, tdbSNP:148237075
3373..3374+, tdbSNP:367543037
3396+c, gdbSNP:367543017
3428+a, gdbSNP:141269464
3429+a, gdbSNP:150784889
3431+c, gdbSNP:369142038
3432+c, tdbSNP:200993043
3466+c, tdbSNP:372697241
3473+c, tdbSNP:201847046
3476+a, gdbSNP:139773499
3482+dbSNP:
3482+a, gdbSNP:374557999
3504+a, gdbSNP:375841213
3515+a, gdbSNP:145027663
3544+c, tdbSNP:147148171
3545+a, gdbSNP:140387675
3593..3594+, ttdbSNP:367543033
3615+a, gdbSNP:371774802
3649+a, cdbSNP:2227934
3658+a, cdbSNP:145524919
3705+dbSNP:
3705+, gdbSNP:367543018
3710+a, gdbSNP:142928725
3727+a, gdbSNP:151114049
3731+a, gdbSNP:28385141
3743+a, tdbSNP:1801256
3755+a, gdbSNP:28385142
3760+a, gdbSNP:377253486
3799+, adbSNP:367543020
3845..3846+, adbSNP:367543021
3887+dbSNP:
3887+c, gdbSNP:144964365
3888+c, tdbSNP:372134818
3916+g, tdbSNP:138831180
3931+a, gdbSNP:376082823
3946+a, gdbSNP:369383272
3965+c, tdbSNP:367543031
3967+a, gdbSNP:140524886
3990+c, tdbSNP:373003917
3997+dbSNP:
3997+a, gdbSNP:28377085
4039+c, tdbSNP:149286215
4063+a, c, g, tdbSNP:1063147
4066+c, tdbSNP:375896520
4069+a, gdbSNP:138188609
4078+c, tdbSNP:56009845
4079+a, gdbSNP:7167216
4103+a, gdbSNP:190652985
4109+a, gdbSNP:150631940
4129+a, gdbSNP:142063329
4140+c, tdbSNP:201149857
4166..4167+, ctdbSNP:200699323
4168+c, tdbSNP:200346177
4231+dbSNP:
4231+a, gdbSNP:61754135
4240+c, tdbSNP:145277875
4242+a, gdbSNP:139115275
4256+a, gdbSNP:377153391
4269+a, gdbSNP:199592406
complement(4277)-t, adbSNP:183438014
4304+c, tdbSNP:376734461
4316+a, gdbSNP:370588118
4378+g, tdbSNP:375331228
4449+a, tdbSNP:116293756
4480+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), transcript variant 1, mRNA. On-demand $1699.00 25
NM_000057 Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), transcript variant 1, mRNA. On-demand $1699.00 25
NM_000057 Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), transcript variant 1, mRNA. On-demand $1699.00 25
NM_000057 Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), transcript variant 1, mRNA. On-demand $1699.00 25
NM_000057 Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), transcript variant 1, mRNA. On-demand $1699.00 25
Title A common nonsense mutation of the BLM gene and prostate cancer risk and survival .
Author Antczak A, Kluzniak W, Wokolorczyk D, Kashyap A, Jakubowska A, Gronwald J, Huzarski T, Byrski T, Debniak T, Masojc B, Gorski B, Gromowski T, Nagorna A, Golab A, Sikorski A, Slojewski M, Gliniewicz B, Borkowski T, Borkowski A, Przybyla J, Sosnowski M, Malkiewicz B, Zdrojowy R, Sikorska-Radek P, Matych J, Wilkosz J, Rozanski W, Kis J, Bar K, Domagala P, Stawicka M, Milecki P, Akbari MR, Narod SA, Lubinski J, Cybulski C, Bryniarski P, Paradysz A, Jersak K, Niemirowicz J, Slupski P, Jarzemski P, Skrzypczyk M, Dobruch J, Domagala W, Chosia M, van de Wetering T, Serrano-Fernandez P, Puszynski M, Soczawa M, Switala J, Archimowicz S, Kordowski M, Zyczkowski M, Borowka A, Baginska J, Krajka K, Szwiec M, Haus O, Janiszewska H, Stembalska A and Sasiadek MM.
Journal Gene 532 (2), 173-176 (2013)
Title TopBP1 controls BLM protein level to maintain genome stability .
Author Wang J, Chen J and Gong Z.
Journal Mol. Cell 52 (5), 667-678 (2013)
Title Monopolar spindle 1 (MPS1) protein-dependent phosphorylation of RecQ-mediated genome instability protein 2 (RMI2) at serine 112 is essential for BLM-Topo III alpha-RMI1-RMI2 (BTR) protein complex function upon spindle assembly checkpoint (SAC) activation during mitosis .
Author Pradhan A, Singh TR, Ali AM, Wahengbam K and Meetei AR.
Journal J. Biol. Chem. 288 (47), 33500-33508 (2013)
Title Ubiquitin-dependent recruitment of the Bloom syndrome helicase upon replication stress is required to suppress homologous recombination .
Author Tikoo S, Madhavan V, Hussain M, Miller ES, Arora P, Zlatanou A, Modi P, Townsend K, Stewart GS and Sengupta S.
Journal EMBO J. 32 (12), 1778-1792 (2013)
Title FE65 regulates and interacts with the Bloom syndrome protein in dynamic nuclear spheres - potential relevance to Alzheimer's disease .
Author Schrotter A, Mastalski T, Nensa FM, Neumann M, Loosse C, Pfeiffer K, Magraoui FE, Platta HW, Erdmann R, Theiss C, Uszkoreit J, Eisenacher M, Meyer HE, Marcus K and Muller T.
Journal J. Cell. Sci. 126 (PT 11), 2480-2492 (2013)
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 NA, Groden J, Ye TZ, Straughen J, Lennon DJ, 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 AM, Leppert MF and Ellis NA.
Journal Proc. Natl. Acad. Sci. U.S.A. 91 (14), 6669-6673 (1994)
Title Bloom's Syndrome .
Author Sanz,M.M. and German,J.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Elevated sister chromatid exchange phenotype of Bloom syndrome cells is complemented by human chromosome 15 .
Author McDaniel LD and Schultz RA.
Journal Proc. Natl. Acad. Sci. U.S.A. 89 (17), 7968-7972 (1992)

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