Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.
| RefSeq Version | NM_000057.2, 105990533 |
| Length | 4528 bp |
| Structure | linear |
| Update Date | 01-MAY-2011 |
| 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]. |
| RefSeq | NP_000048.1 |
| CDS | 98..4351 | Exon (1) | 1..93 | Exon (2) | 1..93 | Exon (3) | 94..195 | Exon (4) | 196..896 | Exon (5) | 897..1056 | Exon (6) | 1057..1184 | Exon (7) | 1185..1317 | Exon (8) | 1318..1979 | Exon (9) | 1980..2171 | Exon (10) | 2172..2290 | Exon (11) | 2291..2404 | Exon (12) | 2405..2503 | Exon (13) | 2504..2652 | Exon (14) | 2653..2759 | Exon (15) | 2760..2920 | Exon (16) | 2921..3116 | Exon (17) | 3117..3307 | Exon (18) | 3308..3455 | Exon (19) | 3456..3655 | Exon (20) | 3656..3848 | Exon (21) | 3849..3971 | Exon (22) | 3972..4173 | Exon (23) | 4174..4528 |
| 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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| Gene Symbol | BLM |
| Gene Synonym | BS; MGC126616; MGC131618; MGC131620; RECQ2; RECQL2; RECQL3 |
| Chromosome | 15 |
| Locus Map | 15q26.1 |
| All Transcripts | NM_000057 |
| Title | BLM-DNA2-RPA-MRN and EXO1-BLM-RPA-MRN constitute two DNA end resection machineries for human DNA break repair . |
| Author | Nimonkar,A.V., Genschel,J., Kinoshita,E., Polaczek,P., Campbell,J.L., Wyman,C., Modrich,P. and Kowalczykowski,S.C. |
| Journal | Genes Dev. 25 (4), 350-362 (2011) |
| Title | The adenovirus E1b55K/E4orf6 complex induces degradation of the Bloom helicase during infection . |
| Author | Orazio,N.I., Naeger,C.M., Karlseder,J. and Weitzman,M.D. |
| Journal | J. Virol. 85 (4), 1887-1892 (2011) |
| Title | Sgs1 truncations induce genome rearrangements but suppress detrimental effects of BLM overexpression in Saccharomyces cerevisiae . |
| Author | Mirzaei,H., Syed,S., Kennedy,J. and Schmidt,K.H. |
| Journal | J. Mol. Biol. 405 (4), 877-891 (2011) |
| Title | Critical interaction domains between bloom syndrome protein and RAD51 . |
| Author | Bergeron,K.L., Murphy,E.L., Brown,L.W. and Almeida,K.H. |
| Journal | Protein J. 30 (1), 1-8 (2011) |
| Title | Polymorphisms in DNA repair genes and risk of non-Hodgkin lymphoma in a pooled analysis of three studies . |
| Author | Shen,M., Menashe,I., Morton,L.M., Zhang,Y., Armstrong,B., Wang,S.S., Lan,Q., Hartge,P., Purdue,M.P., Cerhan,J.R., Grulich,A., Cozen,W., Yeager,M., Holford,T.R., Vajdic,C.M., Davis,S., Leaderer,B., Kricker,A., Severson,R.K., Zahm,S.H., Chatterjee,N., Rothman,N., Chanock,S.J. and Zheng,T. |
| Journal | Br. J. Haematol. 151 (3), 239-244 (2010) |
| 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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