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.
Protein type: DNA repair, damage; DNA replication; Helicase; EC 3.6.4.12
Chromosomal Location of Human Ortholog: 15q26.1
Cellular Component: male germ cell nucleus; nuclear chromosome; lateral element; chromosome, telomeric region; PML body; nuclear matrix; pronucleus; cytoplasm; nucleolus; replication fork; nucleus
Molecular Function: four-way junction helicase activity; G-quadruplex DNA binding; ATP-dependent DNA helicase activity; protein binding; ATP-dependent 3'-5' DNA helicase activity; p53 binding; ATPase activity; ATP-dependent helicase activity; bubble DNA binding; helicase activity; single-stranded DNA binding; ATP binding
Biological Process: negative regulation of DNA recombination; regulation of binding; positive regulation of transcription, DNA-dependent; negative regulation of mitotic recombination; DNA double-strand break processing; alpha-beta T cell differentiation; negative regulation of cell division; DNA repair; double-strand break repair via homologous recombination; DNA duplex unwinding; protein oligomerization; DNA recombination; replication fork processing; mitotic cell cycle G2/M transition DNA damage checkpoint; DNA strand renaturation; positive regulation of alpha-beta T cell proliferation; replication fork protection; regulation of cyclin-dependent protein kinase activity; response to DNA damage stimulus; telomere maintenance; response to X-ray
Disease: Bloom Syndrome
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