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:


  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 Wang Y, Cortez D, Yazdi P, Neff N, Elledge SJ, Qin J (April 2000). "BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures". Genes Dev. 14 (8): 927–39. PMC 316544. PMID 10783165. 
  4. ^ Beamish H, Kedar P, Kaneko H, Chen P, Fukao T, Peng C et al. (August 2002). "Functional link between BLM defective in Bloom's syndrome and the ataxia-telangiectasia-mutated protein, ATM". J. Biol. Chem. 277 (34): 30515–23. doi:10.1074/jbc.M203801200. PMID 12034743. 
  5. ^ Jiao R, Bachrati CZ, Pedrazzi G, Kuster P, Petkovic M, Li JL et al. (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. 24 (11): 4710–9. doi:10.1128/MCB.24.11.4710-4719.2004. PMC 416397. PMID 15143166. 
  6. ^ a b c d Sengupta S, Robles AI, Linke SP, Sinogeeva NI, Zhang R, Pedeux R et al. (September 2004). "Functional interaction between BLM helicase and 53BP1 in a Chk1-mediated pathway during S-phase arrest". J. Cell Biol. 166 (6): 801–13. doi:10.1083/jcb.200405128. PMC 2172115. PMID 15364958. 
  7. ^ Deans AJ, West SC (24 December 2009). "FANCM connects the genome instability disorders Bloom's Syndrome and Fanconi Anemia". Mol. Cell 36 (6): 943–53. doi:10.1016/j.molcel.2009.12.006. PMID 20064461. 
  8. ^ Sharma S, Sommers JA, Wu L, Bohr VA, Hickson ID, Brosh RM (March 2004). "Stimulation of flap endonuclease-1 by the Bloom's syndrome protein". J. Biol. Chem. 279 (11): 9847–56. doi:10.1074/jbc.M309898200. PMID 14688284. 
  9. ^ a b Freire R, d'Adda Di Fagagna F, Wu L, Pedrazzi G, Stagljar I, Hickson ID et al. (August 2001). "Cleavage of the Bloom's syndrome gene product during apoptosis by caspase-3 results in an impaired interaction with topoisomerase IIIalpha". Nucleic Acids Res. 29 (15): 3172–80. doi:10.1093/nar/29.15.3172. PMC 55826. PMID 11470874. 
  10. ^ Langland G, Kordich J, Creaney J, Goss KH, Lillard-Wetherell K, Bebenek K et al. (August 2001). "The Bloom's syndrome protein (BLM) interacts with MLH1 but is not required for DNA mismatch repair". J. Biol. Chem. 276 (32): 30031–5. doi:10.1074/jbc.M009664200. PMID 11325959. 
  11. ^ Pedrazzi G, Perrera C, Blaser H, Kuster P, Marra G, Davies SL et al. (November 2001). "Direct association of Bloom's syndrome gene product with the human mismatch repair protein MLH1". Nucleic Acids Res. 29 (21): 4378–86. doi:10.1093/nar/29.21.4378. PMC 60193. PMID 11691925. 
  12. ^ Wang XW, Tseng A, Ellis NA, Spillare EA, Linke SP, Robles AI et al. (August 2001). "Functional interaction of p53 and BLM DNA helicase in apoptosis". J. Biol. Chem. 276 (35): 32948–55. doi:10.1074/jbc.M103298200. PMID 11399766. 
  13. ^ Garkavtsev IV, Kley N, Grigorian IA, Gudkov AV (December 2001). "The Bloom syndrome protein interacts and cooperates with p53 in regulation of transcription and cell growth control". Oncogene 20 (57): 8276–80. doi:10.1038/sj.onc.1205120. PMID 11781842. 
  14. ^ Yang Q, Zhang R, Wang XW, Spillare EA, Linke SP, Subramanian D et al. (August 2002). "The processing of Holliday junctions by BLM and WRN helicases is regulated by p53". J. Biol. Chem. 277 (35): 31980–7. doi:10.1074/jbc.M204111200. PMID 12080066. 
  15. ^ a b Braybrooke JP, Li JL, Wu L, Caple F, Benson FE, Hickson ID (November 2003). "Functional interaction between the Bloom's syndrome helicase and the RAD51 paralog, RAD51L3 (RAD51D)". J. Biol. Chem. 278 (48): 48357–66. doi:10.1074/jbc.M308838200. PMID 12975363. 
  16. ^ Wu L, Davies SL, Levitt NC, Hickson ID (June 2001). "Potential role for the BLM helicase in recombinational repair via a conserved interaction with RAD51". J. Biol. Chem. 276 (22): 19375–81. doi:10.1074/jbc.M009471200. PMID 11278509. 
  17. ^ a b Brosh RM, Li JL, Kenny MK, Karow JK, Cooper MP, Kureekattil RP et al. (August 2000). "Replication protein A physically interacts with the Bloom's syndrome protein and stimulates its helicase activity". J. Biol. Chem. 275 (31): 23500–8. doi:10.1074/jbc.M001557200. PMID 10825162. 
  18. ^ Opresko PL, von Kobbe C, Laine JP, Harrigan J, Hickson ID, Bohr VA (October 2002). "Telomere-binding protein TRF2 binds to and stimulates the Werner and Bloom syndrome helicases". J. Biol. Chem. 277 (43): 41110–9. doi:10.1074/jbc.M205396200. PMID 12181313. 
  19. ^ Moens PB, Kolas NK, Tarsounas M, Marcon E, Cohen PE, Spyropoulos B (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. 115 (Pt 8): 1611–22. PMID 11950880. 
  20. ^ Wu L, Davies SL, North PS, Goulaouic H, Riou JF, Turley H et al. (March 2000). "The Bloom's syndrome gene product interacts with topoisomerase III". J. Biol. Chem. 275 (13): 9636–44. doi:10.1074/jbc.275.13.9636. PMID 10734115. 
  21. ^ Hu P, Beresten SF, van Brabant AJ, Ye TZ, Pandolfi PP, Johnson FB et al. (June 2001). "Evidence for BLM and Topoisomerase IIIalpha interaction in genomic stability". Hum. Mol. Genet. 10 (12): 1287–98. doi:10.1093/hmg/10.12.1287. PMID 11406610. 
  22. ^ von Kobbe C, Karmakar P, Dawut L, Opresko P, Zeng X, Brosh RM et al. (June 2002). "Colocalization, physical, and functional interaction between Werner and Bloom syndrome proteins". J. Biol. Chem. 277 (24): 22035–44. doi:10.1074/jbc.M200914200. PMID 11919194. 

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