RecQ helicase

Bloom syndrome
Identifiers
SymbolBLM
NCBI gene641
HGNC1058
OMIM604610
RefSeqNM_000057
UniProtP54132
Other data
LocusChr. 15 [1]
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StructuresSwiss-model
DomainsInterPro
RecQ protein-like 4
Identifiers
SymbolRECQL4
NCBI gene9401
HGNC9949
OMIM603780
RefSeqNM_004260
UniProtO94761
Other data
LocusChr. 8 q24.3
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DomainsInterPro
RecQ protein-like 5
Identifiers
SymbolRECQL5
NCBI gene9400
HGNC9950
OMIM603781
RefSeqNM_004259
UniProtO94762
Other data
LocusChr. 17 q25
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RMI1, RecQ mediated genome instability 1
Identifiers
SymbolRMI1
Alt. symbolsC9orf76
NCBI gene80010
HGNC25764
OMIM610404
RefSeqNM_024945
UniProtQ9H9A7
Other data
LocusChr. 9 q22.1
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Werner syndrome
Identifiers
SymbolWRN
NCBI gene7486
HGNC12791
OMIM604611
RefSeqNM_000553
UniProtQ14191
Other data
LocusChr. 8 p
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RecQ helicase is a family of helicase enzymes initially found in Escherichia coli[1] that has been shown to be important in genome maintenance.[2][3][4] They function through catalyzing the reaction ATP + H2O → ADP + P and thus driving the unwinding of paired DNA and translocating in the 3' to 5' direction. These enzymes can also drive the reaction NTP + H2O → NDP + P to drive the unwinding of either DNA or RNA.

  1. ^ Bernstein DA, Keck JL (June 2003). "Domain mapping of Escherichia coli RecQ defines the roles of conserved N- and C-terminal regions in the RecQ family". Nucleic Acids Res. 31 (11): 2778–85. doi:10.1093/nar/gkg376. PMC 156711. PMID 12771204.
  2. ^ Cobb JA, Bjergbaek L, Gasser SM (October 2002). "RecQ helicases: at the heart of genetic stability". FEBS Lett. 529 (1): 43–8. Bibcode:2002FEBSL.529...43C. doi:10.1016/S0014-5793(02)03269-6. PMID 12354611. S2CID 19451131.
  3. ^ Kaneko H, Fukao T, Kondo N (2004). "The function of RecQ helicase gene family (especially BLM) in DNA recombination and joining". Adv. Biophys. 38: 45–64. doi:10.1016/S0065-227X(04)80061-3. PMID 15493327.
  4. ^ Ouyang KJ, Woo LL, Ellis NA (2008). "Homologous recombination and maintenance of genome integrity: cancer and aging through the prism of human RecQ helicases". Mech. Ageing Dev. 129 (7–8): 425–40. doi:10.1016/j.mad.2008.03.003. PMID 18430459. S2CID 6804631.