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Cancer cells displayed moderate to strong nuclear immunoreactivity. Most hepatocellular carcinomas were negative. Several cases of testicular cancer were weakly stained or negative.
GENE INFORMATION
Gene name
BLM (HGNC Symbol)
Synonyms
BS, RECQ2, RECQL3
Description
Bloom syndrome, RecQ helicase-like (HGNC Symbol)
Entrez gene summary
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. [provided by RefSeq, Jul 2008]
Enzymes ENZYME proteins Hydrolases SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Plasma proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000079 [regulation of cyclin-dependent protein serine/threonine kinase activity] GO:0000166 [nucleotide binding] GO:0000228 [nuclear chromosome] GO:0000405 [bubble DNA binding] GO:0000724 [double-strand break repair via homologous recombination] GO:0000729 [DNA double-strand break processing] GO:0000733 [DNA strand renaturation] GO:0000781 [chromosome, telomeric region] GO:0000800 [lateral element] GO:0002039 [p53 binding] GO:0003676 [nucleic acid binding] GO:0003677 [DNA binding] GO:0003697 [single-stranded DNA binding] GO:0003824 [catalytic activity] GO:0004003 [ATP-dependent DNA helicase activity] GO:0004386 [helicase activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005622 [intracellular] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0006260 [DNA replication] GO:0006281 [DNA repair] GO:0006302 [double-strand break repair] GO:0006310 [DNA recombination] GO:0006974 [cellular response to DNA damage stimulus] GO:0007095 [mitotic G2 DNA damage checkpoint] GO:0008026 [ATP-dependent helicase activity] GO:0009378 [four-way junction helicase activity] GO:0010165 [response to X-ray] GO:0016363 [nuclear matrix] GO:0016605 [PML body] GO:0016818 [hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides] GO:0016887 [ATPase activity] GO:0016925 [protein sumoylation] GO:0031297 [replication fork processing] GO:0032508 [DNA duplex unwinding] GO:0036310 [annealing helicase activity] GO:0043140 [ATP-dependent 3'-5' DNA helicase activity] GO:0043687 [post-translational protein modification] GO:0044237 [cellular metabolic process] GO:0044267 [cellular protein metabolic process] GO:0045003 [double-strand break repair via synthesis-dependent strand annealing] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045910 [negative regulation of DNA recombination] GO:0048478 [replication fork protection] GO:0051259 [protein oligomerization] GO:0051782 [negative regulation of cell division] GO:0051880 [G-quadruplex DNA binding] GO:0071479 [cellular response to ionizing radiation] GO:0072711 [cellular response to hydroxyurea] GO:0072757 [cellular response to camptothecin]