Bloom syndrome protein

BLM
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2KV2, 2MH9, 2RRD, 3WE2, 3WE3, 4CDG, 4CGZ, 4O3M
Identifiers
Aliases	BLM, BS, RECQ2, RECQL2, RECQL3, Bloom syndrome RecQ like helicase, BLM RecQ like helicase, MGRISCE1
External IDs	OMIM: 604610; MGI: 1328362; HomoloGene: 47902; GeneCards: BLM; OMA:BLM - orthologs
Gene location (Human) Chr. Chromosome 15 (human)[1] Band 15q26.1 Start 90,717,346 bp[1] End 90,816,166 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7 D2|7 45.65 cM Start 80,104,481 bp[2] End 80,184,867 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in parotid gland gonad secondary oocyte ventricular zone ganglionic eminence testicle tonsil apex of heart trabecular bone right auricle Top expressed in tail of embryo fetal liver hematopoietic progenitor cell primitive streak epiblast otic placode secondary oocyte zygote genital tubercle primary oocyte ureter More reference expression data BioGPS n/a
Gene ontology Molecular function ATP-dependent DNA/DNA annealing activity nucleotide binding helicase activity DNA helicase activity bubble DNA binding p53 binding G-quadruplex DNA binding single-stranded DNA binding hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides ATPase activity protein binding catalytic activity nucleic acid binding four-way junction helicase activity hydrolase activity ATP binding 3'-5' DNA helicase activity four-way junction DNA binding Y-form DNA binding forked DNA-dependent helicase activity telomeric D-loop binding telomeric G-quadruplex DNA binding 8-hydroxy-2'-deoxyguanosine DNA binding DNA binding ATP-dependent activity, acting on DNA zinc ion binding protein homodimerization activity metal ion binding Cellular component PML body nuclear matrix intracellular anatomical structure nucleoplasm lateral element telomere nuclear chromosome nucleolus nucleus cytoplasm cytosol replication fork chromosome pronucleus Biological process DNA recombination regulation of cyclin-dependent protein serine/threonine kinase activity replication fork protection DNA double-strand break processing positive regulation of transcription, DNA-templated negative regulation of cell division cellular response to camptothecin cell metabolism protein complex oligomerization replication fork processing negative regulation of DNA recombination cellular response to ionizing radiation mitotic G2 DNA damage checkpoint signaling response to X-ray cellular response to hydroxyurea DNA repair double-strand break repair via homologous recombination telomeric D-loop disassembly DNA replication t-circle formation DNA duplex unwinding G-quadruplex DNA unwinding protein homooligomerization regulation of DNA-dependent DNA replication cellular response to DNA damage stimulus resolution of meiotic recombination intermediates DNA synthesis involved in DNA repair strand displacement double-strand break repair via nonhomologous end joining meiotic DNA double-strand break processing involved in reciprocal meiotic recombination negative regulation of apoptotic process double-strand break repair via synthesis-dependent strand annealing negative regulation of mitotic recombination alpha-beta T cell differentiation positive regulation of alpha-beta T cell proliferation meiotic chromosome separation negative regulation of thymocyte apoptotic process resolution of recombination intermediates negative regulation of double-strand break repair via single-strand annealing positive regulation of double-strand break repair via homologous recombination regulation of signal transduction by p53 class mediator telomere maintenance DNA unwinding involved in DNA replication Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 641 12144 Ensembl ENSG00000197299 ENSMUSG00000030528 UniProt P54132 O88700 RefSeq (mRNA) NM_000057 NM_001287246 NM_001287247 NM_001287248 NM_001042527 NM_007550 RefSeq (protein) NP_000048 NP_001274175 NP_001274176 NP_001274177 NP_001274177.1 NP_001035992 NP_031576 Location (UCSC) Chr 15: 90.72 – 90.82 Mb Chr 7: 80.1 – 80.18 Mb PubMed search [3] [4]
Wikidata
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Bloom syndrome protein is a protein that in humans is encoded by the BLM gene and is not expressed in Bloom syndrome.^[5]

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 homologous recombination.^[6]