Bloom syndrome protein

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Bloom syndrome, RecQ helicase-like
Available structures
PDB Ortholog search: PDBe, RCSB
External IDs OMIM604610 MGI1328362 HomoloGene47902 ChEMBL: 1293237 GeneCards: BLM Gene
EC number
Species Human Mouse
Entrez 641 12144
Ensembl ENSG00000197299 ENSMUSG00000030528
UniProt P54132 O88700
RefSeq (mRNA) NM_000057 NM_001042527
RefSeq (protein) NP_000048 NP_001035992
Location (UCSC) Chr 15:
91.26 – 91.36 Mb
Chr 7:
80.45 – 80.54 Mb
PubMed search [1] [2]

Bloom syndrome protein is a protein that in humans is encoded by the BLM gene and is not expressed in Bloom syndrome.[1]

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 homologous recombination.[2]


Bloom syndrome protein has been shown to interact with CHEK1,[3] Replication protein A1,[4][5][6] Werner syndrome ATP-dependent helicase,[7] RAD51L3,[8] Ataxia telangiectasia mutated,[9][10] RAD51,[11] XRCC2,[8] Flap structure-specific endonuclease 1,[12] H2AFX,[3] TP53BP1,[3] FANCM,[13] P53,[3][14][15][16] TOP3A,[4][17][18][19] MLH1[9][18][20][21] and CHAF1A.[22]


  1. ^ Karow JK, Chakraverty RK, Hickson ID (January 1998). "The Bloom's syndrome gene product is a 3'-5' DNA helicase". J Biol Chem 272 (49): 30611–4. doi:10.1074/jbc.272.49.30611. PMID 9388193. 
  2. ^ "Bloom syndrome". Genetics Home Reference. NIH. Retrieved 19 March 2013. 
  3. ^ a b c d Sengupta, Sagar; Robles Ana I, Linke Steven P, Sinogeeva Natasha I, Zhang Ran, Pedeux Remy, Ward Irene M, Celeste Arkady, Nussenzweig André, Chen Junjie, Halazonetis Thanos D, Harris Curtis C (September 2004). "Functional interaction between BLM helicase and 53BP1 in a Chk1-mediated pathway during S-phase arrest". J. Cell Biol. (United States) 166 (6): 801–13. doi:10.1083/jcb.200405128. ISSN 0021-9525. PMC 2172115. PMID 15364958. 
  4. ^ a b Brosh, R M; Li J L; Kenny M K; Karow J K; Cooper M P; Kureekattil R P; Hickson I D; Bohr V A (August 2000). "Replication protein A physically interacts with the Bloom's syndrome protein and stimulates its helicase activity". J. Biol. Chem. (UNITED STATES) 275 (31): 23500–8. doi:10.1074/jbc.M001557200. ISSN 0021-9258. PMID 10825162. 
  5. ^ Opresko, Patricia L; von Kobbe Cayetano; Laine Jean-Philippe; Harrigan Jeanine; Hickson Ian D; Bohr Vilhelm A (October 2002). "Telomere-binding protein TRF2 binds to and stimulates the Werner and Bloom syndrome helicases". J. Biol. Chem. (United States) 277 (43): 41110–9. doi:10.1074/jbc.M205396200. ISSN 0021-9258. PMID 12181313. 
  6. ^ Moens, Peter B; Kolas Nadine K; Tarsounas Madalena; Marcon Edyta; Cohen Paula E; Spyropoulos Barbara (April 2002). "The time course and chromosomal localization of recombination-related proteins at meiosis in the mouse are compatible with models that can resolve the early DNA-DNA interactions without reciprocal recombination". J. Cell. Sci. (England) 115 (Pt 8): 1611–22. ISSN 0021-9533. PMID 11950880. 
  7. ^ von Kobbe, Cayetano; Karmakar Parimal; Dawut Lale; Opresko Patricia; Zeng Xianmin; Brosh Robert M; Hickson Ian D; Bohr Vilhelm A (June 2002). "Colocalization, physical, and functional interaction between Werner and Bloom syndrome proteins". J. Biol. Chem. (United States) 277 (24): 22035–44. doi:10.1074/jbc.M200914200. ISSN 0021-9258. PMID 11919194. 
  8. ^ a b Braybrooke, Jeremy P; Li Ji-Liang; Wu Leonard; Caple Fiona; Benson Fiona E; Hickson Ian D (November 2003). "Functional interaction between the Bloom's syndrome helicase and the RAD51 paralog, RAD51L3 (RAD51D)". J. Biol. Chem. (United States) 278 (48): 48357–66. doi:10.1074/jbc.M308838200. ISSN 0021-9258. PMID 12975363. 
  9. ^ a b Wang, Y; Cortez D; Yazdi P; Neff N; Elledge S J; Qin J (April 2000). "BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures". Genes Dev. (UNITED STATES) 14 (8): 927–39. ISSN 0890-9369. PMC 316544. PMID 10783165. 
  10. ^ Beamish, Heather; Kedar Padmini, Kaneko Hideo, Chen Philip, Fukao Toshiyuki, Peng Cheng, Beresten Sergei, Gueven Nuri, Purdie David, Lees-Miller Susan, Ellis Nathan, Kondo Naomi, Lavin Martin F (August 2002). "Functional link between BLM defective in Bloom's syndrome and the ataxia-telangiectasia-mutated protein, ATM". J. Biol. Chem. (United States) 277 (34): 30515–23. doi:10.1074/jbc.M203801200. ISSN 0021-9258. PMID 12034743. 
  11. ^ Wu, L; Davies S L; Levitt N C; Hickson I D (June 2001). "Potential role for the BLM helicase in recombinational repair via a conserved interaction with RAD51". J. Biol. Chem. (United States) 276 (22): 19375–81. doi:10.1074/jbc.M009471200. ISSN 0021-9258. PMID 11278509. 
  12. ^ Sharma, Sudha; Sommers Joshua A; Wu Leonard; Bohr Vilhelm A; Hickson Ian D; Brosh Robert M (March 2004). "Stimulation of flap endonuclease-1 by the Bloom's syndrome protein". J. Biol. Chem. (United States) 279 (11): 9847–56. doi:10.1074/jbc.M309898200. ISSN 0021-9258. PMID 14688284. 
  13. ^ Deans, Andrew; Stephen West (24 December 2009). "FANCM Connects the Genome Instability Disorders Bloom's Syndrome and Fanconi Anemia". Molecular Cell 36 (6): 943–953. doi:10.1016/j.molcel.2009.12.006. PMID 20064461. 
  14. ^ Wang, X W; Tseng A, Ellis N A, Spillare E A, Linke S P, Robles A I, Seker H, Yang Q, Hu P, Beresten S, Bemmels N A, Garfield S, Harris C C (August 2001). "Functional interaction of p53 and BLM DNA helicase in apoptosis". J. Biol. Chem. (United States) 276 (35): 32948–55. doi:10.1074/jbc.M103298200. ISSN 0021-9258. PMID 11399766. 
  15. ^ Garkavtsev, I V; Kley N; Grigorian I A; Gudkov A V (December 2001). "The Bloom syndrome protein interacts and cooperates with p53 in regulation of transcription and cell growth control". Oncogene (England) 20 (57): 8276–80. doi:10.1038/sj.onc.1205120. ISSN 0950-9232. PMID 11781842. 
  16. ^ Yang, Qin; Zhang Ran, Wang Xin Wei, Spillare Elisa A, Linke Steven P, Subramanian Deepa, Griffith Jack D, Li Ji Liang, Hickson Ian D, Shen Jiang Cheng, Loeb Lawrence A, Mazur Sharlyn J, Appella Ettore, Brosh Robert M, Karmakar Parimal, Bohr Vilhelm A, Harris Curtis C (August 2002). "The processing of Holliday junctions by BLM and WRN helicases is regulated by p53". J. Biol. Chem. (United States) 277 (35): 31980–7. doi:10.1074/jbc.M204111200. ISSN 0021-9258. PMID 12080066. 
  17. ^ Wu, L; Davies S L; North P S; Goulaouic H; Riou J F; Turley H; Gatter K C; Hickson I D (March 2000). "The Bloom's syndrome gene product interacts with topoisomerase III". J. Biol. Chem. (UNITED STATES) 275 (13): 9636–44. doi:10.1074/jbc.275.13.9636. ISSN 0021-9258. PMID 10734115. 
  18. ^ a b Freire, R; d'Adda Di Fagagna F, Wu L, Pedrazzi G, Stagljar I, Hickson I D, Jackson S P (August 2001). "Cleavage of the Bloom's syndrome gene product during apoptosis by caspase-3 results in an impaired interaction with topoisomerase IIIα". Nucleic Acids Res. (England) 29 (15): 3172–80. doi:10.1093/nar/29.15.3172. PMC 55826. PMID 11470874. 
  19. ^ Hu, P; Beresten S F; van Brabant A J; Ye T Z; Pandolfi P P; Johnson F B; Guarente L; Ellis N A (June 2001). "Evidence for BLM and Topoisomerase IIIalpha interaction in genomic stability". Hum. Mol. Genet. (England) 10 (12): 1287–98. doi:10.1093/hmg/10.12.1287. ISSN 0964-6906. PMID 11406610. 
  20. ^ Langland, G; Kordich J; Creaney J; Goss K H; Lillard-Wetherell K; Bebenek K; Kunkel T A; Groden J (August 2001). "The Bloom's syndrome protein (BLM) interacts with MLH1 but is not required for DNA mismatch repair". J. Biol. Chem. (United States) 276 (32): 30031–5. doi:10.1074/jbc.M009664200. ISSN 0021-9258. PMID 11325959. 
  21. ^ Pedrazzi, G; Perrera C, Blaser H, Kuster P, Marra G, Davies S L, Ryu G H, Freire R, Hickson I D, Jiricny J, Stagljar I (November 2001). "Direct association of Bloom's syndrome gene product with the human mismatch repair protein MLH1". Nucleic Acids Res. (England) 29 (21): 4378–86. doi:10.1093/nar/29.21.4378. PMC 60193. PMID 11691925. 
  22. ^ Jiao, Renjie; Bachrati Csanád Z; Pedrazzi Graziella; Kuster Patrick; Petkovic Maja; Li Ji-Liang; Egli Dieter; Hickson Ian D; Stagljar Igor (June 2004). "Physical and Functional Interaction between the Bloom's Syndrome Gene Product and the Largest Subunit of Chromatin Assembly Factor 1". Mol. Cell. Biol. (United States) 24 (11): 4710–9. doi:10.1128/MCB.24.11.4710-4719.2004. ISSN 0270-7306. PMC 416397. PMID 15143166. 

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