Mouse Anti-BLM Recombinant Antibody (CBYY-1691) (CBMAB-2040-YY)

Bloom Syndrome RecQ Like Helicase

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 recombination.

Bloom Syndrome RecQ Like Helicase; DNA Helicase, RecQ-Like Type 2; RecQ Protein-Like 3; RECQL3; RECQ2; Bloom Syndrome, RecQ Helicase-Like; Bloom Syndrome Protein;

ATP-dependent DNA helicase that unwinds single- and double-stranded DNA in a 3'-5' direction (PubMed:9388193, PubMed:24816114, PubMed:25901030).
Participates in DNA replication and repair (PubMed:12019152, PubMed:21325134, PubMed:23509288).
Involved in 5'-end resection of DNA during double-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNA (PubMed:21325134).
Negatively regulates sister chromatid exchange (SCE) (PubMed:25901030).
Stimulates DNA 4-way junction branch migration and DNA Holliday junction dissolution (PubMed:25901030).
Binds single-stranded DNA (ssDNA), forked duplex DNA and DNA Holliday junction (PubMed:20639533, PubMed:24257077, PubMed:25901030).
Recruited by the KHDC3L-OOEP scaffold to DNA replication forks where it is retained by TRIM25 ubiquitination, it thereby promotes the restart of stalled replication forks (By similarity).

Cellular response to camptothecin Source: UniProtKB
Cellular response to DNA damage stimulus Source: UniProtKB
Cellular response to hydroxyurea Source: UniProtKB
Cellular response to ionizing radiation Source: UniProtKB
DNA double-strand break processing Source: UniProtKB
DNA duplex unwinding Source: UniProtKB
DNA recombination Source: GO_Central
DNA repair Source: GO_Central
DNA replication Source: BHF-UCL
DNA unwinding involved in DNA replication Source: GO_Central
Double-strand break repair via homologous recombination Source: GO_Central
G-quadruplex DNA unwinding Source: BHF-UCL
Mitotic G2 DNA damage checkpoint Source: UniProtKB
Negative regulation of cell division Source: UniProtKB
Negative regulation of DNA recombination Source: UniProtKB
Positive regulation of transcription, DNA-templated Source: UniProtKB
Protein complex oligomerization Source: UniProtKB
Protein homooligomerization Source: UniProtKB
Regulation of cyclin-dependent protein serine/threonine kinase activity Source: UniProtKB
Regulation of DNA-dependent DNA replication Source: UniProtKB
Regulation of signal transduction by p53 class mediator Source: Reactome
Replication fork processing Source: UniProtKB
Replication fork protection Source: UniProtKB
Response to X-ray Source: UniProtKB
T-circle formation Source: BHF-UCL
Telomere maintenance Source: GO_Central
Telomere maintenance via semi-conservative replication Source: Reactome
Telomeric D-loop disassembly Source: BHF-UCL

Nucleus. Together with SPIDR, is redistributed in discrete nuclear DNA damage-induced foci following hydroxyurea (HU) or camptothecin (CPT) treatment. Accumulated at sites of DNA damage in a RMI complex- and SPIDR-dependent manner.

Bloom syndrome (BLM): An autosomal recessive disorder. It is characterized by proportionate pre- and postnatal growth deficiency, sun-sensitive telangiectatic hypo- and hyperpigmented skin, predisposition to malignancy, and chromosomal instability.

Poly-ubiquitinated by TRIM25 at Lys-259.
Phosphorylated in response to DNA damage. Phosphorylation requires the FANCA-FANCC-FANCE-FANCF-FANCG protein complex, as well as the presence of RMI1.