Bloom Syndrome Protein

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Bloom Syndrome Protein

Existing structural data : 2KV2 , 2MH9 , 2RRD , 3WE2 , 3WE3 , 4CDG , 4CGZ , 4O3M

Properties of human protein
Mass / length primary structure 1417 amino acids
Cofactor Mg 2+
Identifier
Gene name BLM
External IDs
Enzyme classification
EC, category 3.6.4.12 ,  Helicase
Substrate twisted DNA + ATP + H 2 O
Products untwisted DNA + ADP + Pi
Occurrence
Parent taxon Creature
Orthologue
human House mouse
Entrez 641 12144
Ensemble ENSG00000197299 ENSMUSG00000030528
UniProt P54132 O88700
Refseq (mRNA) NM_000057 NM_001042527
Refseq (protein) NP_000048 NP_001035992
Gene locus Chr 15: 90.72 - 90.82 Mb Chr 7: 80.45 - 80.54 Mb
PubMed search 641 12144

The Bloom Syndrome Protein (RecQ2) is an enzyme that is found in the nucleus of many living things . It is part of the mechanism that detects DNA damage and initiates DNA repair . Mutations in the BLM - gene are the cause of the Bloom's syndrome , a rare genetic disease . RecQ2 belongs to the DEAD box helicases and binds to G-quadruplexes .

In response to damage to DNA, RecQ2 is phosphorylated by certain protein complexes. It is itself part of the BRCA1-associated genome surveillance complex (BASC) and the RAD50-MRE11-NBS1 complex. RecQ2 interacts with RMI1. The entirety of the functions of the protein is the subject of current research.

literature

  • Hemphill AW, Akkari Y, Newell AH, et al. : Topo IIIalpha and BLM act within the Fanconi anemia pathway in response to DNA crosslinking agents . In: Cytogenet. Genome Res . 125, No. 3, 2009, pp. 165-75. doi : 10.1159 / 000230001 . PMID 19738377 . PMC 2759320 (free full text).
  • Srivastava V, Modi P, Tripathi V, Mudgal R, De S, Sengupta S: BLM helicase stimulates the ATPase and chromatin-remodeling activities of RAD54 . In: J. Cell. Sci. . 122, No. Pt 17, September 2009, pp. 3093-103. doi : 10.1242 / jcs.051813 . PMID 19671661 . PMC 2729260 (free full text).
  • Kikuchi K, Abdel-Aziz HI, Taniguchi Y, Yamazoe M, Takeda S, Hirota K: Bloom DNA helicase facilitates homologous recombination between diverged homologous sequences . In: J. Biol. Chem. . 284, No. 39, September 2009, pp. 26360-7. doi : 10.1074 / jbc.M109.029348 . PMID 19661064 . PMC 2785323 (free full text).
  • Bugreev DV, Mazina OM, Mazin AV: Bloom syndrome helicase stimulates RAD51 DNA strand exchange activity through a novel mechanism . In: J. Biol. Chem. . 284, No. 39, September 2009, pp. 26349-59. doi : 10.1074 / jbc.M109.029371 . PMID 19632996 . PMC 2786030 (free full text).
  • Naim V, Rosselli F: The FANC pathway and BLM collaborate during mitosis to prevent micro-nucleation and chromosome abnormalities . In: Nat. Cell Biol . 11, No. 6, June 2009, pp. 761-8. doi : 10.1038 / ncb1883 . PMID 19465921 .

Individual evidence

  1. ↑ IPR002121 Helicase / RNase D C-terminal, HRDC domain. In: InterPro. EBI, accessed October 26, 2010 .
  2. ↑ UniProt P54312