Property Summary

NCBI Gene PubMed Count 209
Grant Count 94
R01 Count 44
Funding $16,092,516.33
PubMed Score 97.13
PubTator Score 158.23

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (20)

Synonym

Accession P54132 Q52M96
Symbols BS
RECQ2
RECQL2
RECQL3

Gene

BLM

PDB

2KV2   2MH9   2RRD   3WE2   3WE3   4CDG   4CGZ   4O3M  

 OMIM Term (1)

MLP Assay (7)

AID Type Active / Inconclusive / Inactive Description
2364 confirmatory 30 / 728 / 522 qHTS Validation Assay for Inhibitors of Bloom's syndrome helicase (BLM)
2386 summary 0 / 0 / 0 Probe Development Summary for Inhibitors of Bloom's syndrome helicase (BLM)
2528 confirmatory 697 / 1880 / 352283 qHTS Assay for Inhibitors of Bloom's syndrome helicase (BLM)
2585 confirmatory 85 / 82 / 55 qHTS Confirmation Assay for Inhibitors of Bloom's syndrome helicase (BLM)
504662 confirmatory 1 / 0 / 0 Inhibitors of BLM Helicase: DNA Unwinding Measured by Gel Electrophoresis - BLM Helicase Activity
504663 confirmatory 0 / 0 / 1 Inhibitors of BLM Helicase: DNA Unwinding Measured by Gel Electrophoresis - RecQL1 Helicase Counterscreen
720503 confirmatory 368 / 133 / 110 qHTS for Inhibitors of WRN Helicase: BLM Helicase Counterscreen for WRN Inhibitors

Gene RIF (170)

PMID Text
26778106 Israeli ATM, BLM, and FANCC heterozygous mutation carriers are not at an increased risk for developing cancer.
26358404 these data indicate that carriers of deleterious BLM mutations are at increased risk to develop CRC, albeit with a moderate-to-low penetrance.
26028025 evidence that BLM is a substrate for Fbw7alpha-dependent ubiquitylation and degradation during mitosis
25794620 TopBP1 interacts with BLM to maintain genome stability but is dispensable for preventing BLM degradation.Crucial residues mediating BLM-TOP3A/RMI interactions identified.
25766002 Findings indicate that BLM functions in 2 distinct pathways. In one, BLM functions to suppress sister chromatid exchanges formation; in the second one, T99 and T122 phosphorylations are essential for suppression of chromosomal radial formation.
25673821 BLM mRNA and BLM protein levels independently influenced BCSS. This is the first and the largest study to provide evidence that BLM is a promising biomarker in breast cancer.
25588990 RecQ-like helicase BLM subcellular localization is regulated by SUMO-targeted ubiquitin ligase RNF4 in response to DNA damage, presumably to prevent illegitimate recombination events.
25472581 this is the first genetic association study to show the significant association between BLM gene and Prostate cancer susceptibility in Chinese population.
25182961 These findings indicate that the BLM p.Q548X mutation is not a strong risk factor for ovarian cancer.
25129257 A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE) in heterozygous family members.
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AA Sequence

MAAVPQNNLQEQLERHSARTLNNKLSLSKPKFSGFTFKKKTSSDNNVSVTNVSVAKTPVLRNKDVNVTED      1 - 70
FSFSEPLPNTTNQQRVKDFFKNAPAGQETQRGGSKSLLPDFLQTPKEVVCTTQNTPTVKKSRDTALKKLE     71 - 140
FSSSPDSLSTINDWDDMDDFDTSETSKSFVTPPQSHFVRVSTAQKSKKGKRNFFKAQLYTTNTVKTDLPP    141 - 210
PSSESEQIDLTEEQKDDSEWLSSDVICIDDGPIAEVHINEDAQESDSLKTHLEDERDNSEKKKNLEEAEL    211 - 280
HSTEKVPCIEFDDDDYDTDFVPPSPEEIISASSSSSKCLSTLKDLDTSDRKEDVLSTSKDLLSKPEKMSM    281 - 350
QELNPETSTDCDARQISLQQQLIHVMEHICKLIDTIPDDKLKLLDCGNELLQQRNIRRKLLTEVDFNKSD    351 - 420
ASLLGSLWRYRPDSLDGPMEGDSCPTGNSMKELNFSHLPSNSVSPGDCLLTTTLGKTGFSATRKNLFERP    421 - 490
LFNTHLQKSFVSSNWAETPRLGKKNESSYFPGNVLTSTAVKDQNKHTASINDLERETQPSYDIDNFDIDD    491 - 560
FDDDDDWEDIMHNLAASKSSTAAYQPIKEGRPIKSVSERLSSAKTDCLPVSSTAQNINFSESIQNYTDKS    561 - 630
AQNLASRNLKHERFQSLSFPHTKEMMKIFHKKFGLHNFRTNQLEAINAALLGEDCFILMPTGGGKSLCYQ    631 - 700
LPACVSPGVTVVISPLRSLIVDQVQKLTSLDIPATYLTGDKTDSEATNIYLQLSKKDPIIKLLYVTPEKI    701 - 770
CASNRLISTLENLYERKLLARFVIDEAHCVSQWGHDFRQDYKRMNMLRQKFPSVPVMALTATANPRVQKD    771 - 840
ILTQLKILRPQVFSMSFNRHNLKYYVLPKKPKKVAFDCLEWIRKHHPYDSGIIYCLSRRECDTMADTLQR    841 - 910
DGLAALAYHAGLSDSARDEVQQKWINQDGCQVICATIAFGMGIDKPDVRFVIHASLPKSVEGYYQESGRA    911 - 980
GRDGEISHCLLFYTYHDVTRLKRLIMMEKDGNHHTRETHFNNLYSMVHYCENITECRRIQLLAYFGENGF    981 - 1050
NPDFCKKHPDVSCDNCCKTKDYKTRDVTDDVKSIVRFVQEHSSSQGMRNIKHVGPSGRFTMNMLVDIFLG   1051 - 1120
SKSAKIQSGIFGKGSAYSRHNAERLFKKLILDKILDEDLYINANDQAIAYVMLGNKAQTVLNGNLKVDFM   1121 - 1190
ETENSSSVKKQKALVAKVSQREEMVKKCLGELTEVCKSLGKVFGVHYFNIFNTVTLKKLAESLSSDPEVL   1191 - 1260
LQIDGVTEDKLEKYGAEVISVLQKYSEWTSPAEDSSPGISLSSSRGPGRSAAEELDEEIPVSSHYFASKT   1261 - 1330
RNERKRKKMPASQRSKRRKTASSGSKAKGGSATCRKISSKTKSSSIIGSSSASHTSQATSGANSKLGIMA   1331 - 1400
PPKPINRPFLKPSYAFS                                                        1401 - 1417
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Text Mined References (217)

PMID Year Title
26778106 2016 The risk for developing cancer in Israeli ATM, BLM, and FANCC heterozygous mutation carriers.
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
26358404 2015 Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer.
26028025 2016 Mitotic phosphorylation of Bloom helicase at Thr182 is required for its proteasomal degradation and maintenance of chromosomal stability.
25794620 2015 TopBP1 interacts with BLM to maintain genome stability but is dispensable for preventing BLM degradation.
25772364 2015 SUMO-2 Orchestrates Chromatin Modifiers in Response to DNA Damage.
25766002 2014 Bloom syndrome radials are predominantly non-homologous and are suppressed by phosphorylated BLM.
25755297 2015 System-wide Analysis of SUMOylation Dynamics in Response to Replication Stress Reveals Novel Small Ubiquitin-like Modified Target Proteins and Acceptor Lysines Relevant for Genome Stability.
25673821 2015 Transcriptomic and Protein Expression Analysis Reveals Clinicopathological Significance of Bloom Syndrome Helicase (BLM) in Breast Cancer.
25588990 2015 Disruption of SUMO-targeted ubiquitin ligases Slx5-Slx8/RNF4 alters RecQ-like helicase Sgs1/BLM localization in yeast and human cells.
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