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Bloom syndrome protein; recQ protein-like 3; DNA helicase, recQ-like type 2 (BLM, RECQ2, RECQL3)
Function:
- role in DNA replication & repair
- has a Mg+2-dependent ATP-dependent DNA-helicase activity that unwinds single-stranded DNA & double-stranded DNA in a 3'-5' direction
- component of BRCA1-associated genome surveillance complex (BASC)
- association with BASC could be a dynamic process changing throughout the cell cycle & within subnuclear domains
- interacts with ubiquitinated FANCD2
- interacts with RMI complex
- interacts directly with RMI1 component of RMI complex
- phosphorylated in response to DNA damage
- phosphorylation requires:
a) FANCA-FANCC-FANCE-FANCF-FANCG complex
b) RMI1
Structure:
- belongs to the helicase family, recQ subfamily
- contains 1 helicase ATP-binding domain
- contains 1 helicase C-terminal domain
- contains 1 HRDC domain
Compartment: nucleus
Pathology:
- defects in BLM are the cause of Bloom syndrome
Related
BLM gene (Bloom's syndrome mutated)
Bloom syndrome
General
helicase (DNA unwinding protein, DNA untwisting protein)
phosphoprotein
Properties
SIZE: entity length = 1417 aa
MW = 159 kD
COMPARTMENT: cell nucleus
MOTIF: Ser phosphorylation site {S48}
Ser phosphorylation site {S53}
Thr phosphorylation site {T57}
Thr phosphorylation site {T114}
serine-rich region {310-316}
MOTIF: serine residue (SEVERAL)
Ser phosphorylation site {S358}
Ser phosphorylation site {S419}
Ser phosphorylation site {S422}
Ser phosphorylation site {S480}
Ser phosphorylation site {S499}
Thr phosphorylation site {T508}
helicase
NAME: helicase
SITE: 676-851
MOTIF: ATP-binding site
NAME: ATP-binding site
SITE: 689-696
DEAD/H box
NAME: DEAD/H box
SITE: 795-798
Helicase C-terminal {877-1024}
HRDC {1212-1292}
Ser phosphorylation site {S1295}
Ser phosphorylation site {S1296}
Ser phosphorylation site {S1303}
Ser phosphorylation site {S1310}
nuclear translocation signal {1334-1349}
References
- UniProt :accession P54132
- BLMbase; Note: BLM mutation db
http://bioinf.uta.fi/BLMbase/
- Atlas of genetics & cytogenetics in oncology & haematology
http://atlasgeneticsoncology.org/genes/BLM109.html
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=BLM
- NIEHS-SNPs
http://egp.gs.washington.edu/data/blm/
- Ellis NA et al
The Bloom's syndrome gene product is homologous to RecQ
helicases.
Cell 83:655 1995
PMID: 7585968
Component-of
BRCA1-associated genome surveillance complex (BASC)
Databases & Figures
OMIM correlations
MORBIDMAP 604610
UniProt P54132
PFAM correlations
Entrez Gene 641
Kegg hsa:641
Double strand break repair: homologous recombination