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BLM a magnesium-dependent ATP-dependent DNA-helicase that unwinds single- and double-stranded DNA in a 3'-5' direction. A member of the RecQ helicase family that is required for genome stability. Participates in DNA replication, recombination and repair. Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBS1 protein complex which is a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts with ubiquitinated FANCD2. Note: This description may include information from UniProtKB.
Protein type: DNA repair, damage; DNA replication; EC; Helicase
Chromosomal Location of Human Ortholog: 15q26.1
Cellular Component: chromosome, telomeric region; cytoplasm; cytosol; lateral element; nuclear chromosome; nuclear matrix; nucleolus; nucleoplasm; nucleus; PML body; replication fork
Molecular Function: ATP binding; ATP-dependent 3'-5' DNA helicase activity; ATP-dependent DNA helicase activity; ATP-dependent helicase activity; ATPase activity; bubble DNA binding; DNA helicase activity; four-way junction DNA binding; four-way junction helicase activity; G-quadruplex DNA binding; helicase activity; p53 binding; protein binding; single-stranded DNA binding; Y-form DNA binding
Biological Process: DNA double-strand break processing; DNA duplex unwinding; DNA replication; DNA synthesis during DNA repair; double-strand break repair via homologous recombination; mitotic cell cycle G2/M transition DNA damage checkpoint; negative regulation of cell division; negative regulation of DNA recombination; positive regulation of transcription, DNA-dependent; protein oligomerization; regulation of cyclin-dependent protein kinase activity; replication fork processing; response to DNA damage stimulus; response to X-ray; strand displacement
Disease: Bloom Syndrome
Reference #:  P54132 (UniProtKB)
Alt. Names/Synonyms: BLM; Bloom syndrome protein; Bloom syndrome, RecQ helicase-like; BS; DNA helicase, RecQ-like type 2; MGC126616; MGC131618; MGC131620; RecQ protein-like 3; RECQ2; RECQL2; RECQL3
Gene Symbols: BLM
Molecular weight: 159,000 Da
Basal Isoelectric point: 7.33  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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