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:
  • FANCA-FANCC-FANCE-FANCF-FANCG complex
  • 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

More general terms

• helicase (DNA unwinding protein, DNA untwisting protein)
• phosphoprotein

Additional terms

• Bloom syndrome

Component of

• BRCA1-associated genome surveillance complex (BASC)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=641
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:641
• OMIM: https://mirror.omim.org/entry/210900
• OMIM: https://mirror.omim.org/entry/604610
• UniProt: http://www.uniprot.org/uniprot/P54132.html