HCSGD entry for BLM

1. General information

Official gene symbolBLM
Entrez ID641
Gene full nameBloom syndrome, RecQ helicase-like
Other gene symbolsBS RECQ2 RECQL2 RECQL3
Links to Entrez GeneLinks to Entrez Gene

2. Neighbors in the network

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3. Gene ontology annotation

GO ID

GO term

Evidence

Category

GO:0000079Regulation of cyclin-dependent protein serine/threonine kinase activityIMPbiological_process
GO:0000085Mitotic G2 phaseNASbiological_process
GO:0000228Nuclear chromosomeIDAcellular_component
GO:0000405Bubble DNA bindingIDAmolecular_function
GO:0000723Telomere maintenanceIEAbiological_process
GO:0000724Double-strand break repair via homologous recombinationNASbiological_process
GO:0000729DNA double-strand break processingIDAbiological_process
GO:0000733DNA strand renaturationIDAbiological_process
GO:0000781Chromosome, telomeric regionIDAcellular_component
GO:0000800Lateral elementIDAcellular_component
GO:0001673Male germ cell nucleusIEAcellular_component
GO:0002039P53 bindingIPImolecular_function
GO:0003677DNA bindingIEAmolecular_function
GO:0003697Single-stranded DNA bindingIDAmolecular_function
GO:0004003ATP-dependent DNA helicase activityIDA IMPmolecular_function
GO:0004386Helicase activityIDAmolecular_function
GO:0005515Protein bindingIPImolecular_function
GO:0005524ATP bindingIDA IEAmolecular_function
GO:0005634NucleusIDAcellular_component
GO:0005657Replication forkIEAcellular_component
GO:0005730NucleolusIDAcellular_component
GO:0005737CytoplasmIDAcellular_component
GO:0006200ATP catabolic processIDA IMPbiological_process
GO:0006260DNA replicationIEAbiological_process
GO:0006281DNA repairIEA NASbiological_process
GO:0006310DNA recombinationIEA NASbiological_process
GO:0006974Cellular response to DNA damage stimulusIDA IMPbiological_process
GO:0008026ATP-dependent helicase activityIDAmolecular_function
GO:0009378Four-way junction helicase activityIDAmolecular_function
GO:0010165Response to X-rayIDAbiological_process
GO:0016363Nuclear matrixIDAcellular_component
GO:0016605PML bodyIDAcellular_component
GO:0016887ATPase activityIDAmolecular_function
GO:0031297Replication fork processingIDAbiological_process
GO:0031572G2 DNA damage checkpointNASbiological_process
GO:0032508DNA duplex unwindingIDA IMPbiological_process
GO:0036310Annealing helicase activityIDAmolecular_function
GO:0043140ATP-dependent 3'-5' DNA helicase activityIEAmolecular_function
GO:0045120PronucleusIEAcellular_component
GO:0045893Positive regulation of transcription, DNA-templatedIDAbiological_process
GO:0045910Negative regulation of DNA recombinationIMPbiological_process
GO:0045950Negative regulation of mitotic recombinationIEAbiological_process
GO:0046632Alpha-beta T cell differentiationIEAbiological_process
GO:0046641Positive regulation of alpha-beta T cell proliferationIEAbiological_process
GO:0048478Replication fork protectionNASbiological_process
GO:0051098Regulation of bindingIEAbiological_process
GO:0051259Protein oligomerizationIDAbiological_process
GO:0051782Negative regulation of cell divisionIMPbiological_process
GO:0051880G-quadruplex DNA bindingIDAmolecular_function
GO:0070244Negative regulation of thymocyte apoptotic processIEAbiological_process
GO:0071479Cellular response to ionizing radiationIDAbiological_process
GO:0072711Cellular response to hydroxyureaIDAbiological_process
GO:0072757Cellular response to camptothecinIDAbiological_process
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4. Expression levels in datasets

  • Meta-analysis result

p-value upp-value downFDR upFDR down
0.96596913870.00064889250.99999024730.0474430556

  • Individual experiment result
    ( "-" represent NA in the specific microarray platform )

Data sourceUp or downLog fold change
GSE11954Down-0.3665022125
GSE13712_SHEARUp0.0889648286
GSE13712_STATICDown-0.1295706481
GSE19018Down-0.0393776733
GSE19899_A1Down-0.2426441518
GSE19899_A2Down-3.5351916992
PubMed_21979375_A1Down-1.4661920270
PubMed_21979375_A2Down-1.6539212408
GSE35957Down-1.0539487944
GSE36640Down-3.8941563388
GSE54402Down-0.1875007718
GSE9593Down-0.8110158867
GSE43922Down-1.5690520865
GSE24585Down-0.0809764344
GSE37065Down-0.2363419969
GSE28863_A1Down-0.0662812085
GSE28863_A2Up0.3651615461
GSE28863_A3Down-0.1400677281
GSE28863_A4Up0.1840090851
GSE48662Down-1.2711729836

5. Regulation relationships with compounds/drugs/microRNAs

  • Compounds

Not regulated by compounds

  • Drugs

Not regulated by drugs

  • MicroRNAs

    • mirTarBase

MiRNA_name

mirBase ID

miRTarBase ID

Experiment

Support type

References (Pubmed ID)

hsa-miR-193b-3pMIMAT0002819MIRT016590MicroarrayFunctional MTI (Weak)20304954
hsa-miR-215-5pMIMAT0000272MIRT024921MicroarrayFunctional MTI (Weak)19074876
hsa-miR-192-5pMIMAT0000222MIRT026815MicroarrayFunctional MTI (Weak)19074876
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    • mirRecord
No target information from mirRecord

6. Text-mining results about the gene

Gene occurances in abstracts of cellular senescence-associated articles: 7 abstracts the gene occurs.


PubMed ID of the article

Sentenece the gene occurs

24832598We first systematically investigated whether depletion of RECQL4 and the other four human RecQ helicases, BLM, WRN, RECQL1 and RECQL5, impacts the proliferative potential of human primary fibroblasts
24832598BLM-, WRN- and RECQL4-depleted cells display increased staining of senescence-associated beta-galactosidase (SA-beta-gal), higher expression of p16(INK4a) or/and p21(WAF1) and accumulated persistent DNA damage foci
20798040Werner syndrome and Bloom syndrome result from defects in the RecQ helicases Werner (WRN) and Bloom (BLM), respectively, and display premature aging phenotypes
19442255It is known that telomere length maintenance in ALT+ cells is dependent on the MRN [MRE11 (meiotic recombination 11)-Rad50-NBS1 (Nijmegen breakage syndrome 1)] complex, but knowledge of the role of other genes, including the Werner's (WRN) and Bloom's (BLM) syndrome DNA helicase genes, is still limited
17996922Endogenous WRN and BLM proteins localize in nucleoli and in nuclear PML bodies defined by isoforms of the PML protein, which is a key regulator of cellular senescence
17996922We further characterized WRN and BLM localization using labeling with monomeric red fluorescence protein (mRFP)
17996922Similar nucleolar relocalization in response to wild-type SIRT1 was detected for mRFP-labeled BLM
17996922Our data indicate for the first time that SIRT1 protein may be functionally associated with WRN and BLM helicases and that some major SIRT1 functions may not require its deacetylase activity
17321898Since Werner (WRN) and Bloom (BLM) helicases are crucial in cell repair and aging, their peripheral blood mononuclear cells (PBMC) mRNA levels were compared in HIV-1 infected patients and in normal donors
173218987-fold higher in PBMCs from HIV-1 infected individuals in comparison to healthy donors, whereas BLM mRNA mean levels were slightly higher, although not significantly
17321898On the whole, this study shows that WRN and BLM are differentially modulated in HIV infection, as WRN--but not BLM--is significantly increased, suggesting that mechanisms different from defect or loss of helicase function, observed in WRN and BLM syndromes, may be at the basis of T-cell aging in HIV infection
16287861To identify cellular events that are specifically vulnerable to WRN deficiency, we used RNA interference (RNAi) to knockdown WRN or BLM (the RecQ helicase mutated in Bloom syndrome) expression in primary human fibroblasts
16287861Withdrawal of WRN or BLM produced accelerated cellular senescence phenotype and DNA damage response in normal fibroblasts, as evidenced by induction of gammaH2AX and 53BP1 nuclear foci
11389927The Saccharomyces cerevisiae SGS1 gene is a member of the RecQ family of ATP-dependent DNA helicases, which includes the human WRN, BLM and RECQ4 genes
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