Gene description for BLM
Gene name Bloom syndrome, RecQ helicase-like
Gene symbol BLM
Other names/aliases BS
RECQ2
RECQL2
RECQL3
Species Homo sapiens
 Database cross references - BLM
ExoCarta ExoCarta_641
Entrez Gene 641
HGNC 1058
MIM 604610
UniProt P54132  
 BLM identified in exosomes derived from the following tissue/cell type
Thymus 23844026    
 Gene ontology annotations for BLM
Molecular Function
    ATPase activity GO:0016887 IDA
    ATP-dependent helicase activity GO:0008026 IDA
    protein binding GO:0005515 IPI
    helicase activity GO:0004386 IDA
    single-stranded DNA binding GO:0003697 IDA
    p53 binding GO:0002039 IPI
    annealing helicase activity GO:0036310 IDA
    ATP-dependent DNA helicase activity GO:0004003 IMP
    ATP-dependent 3'-5' DNA helicase activity GO:0043140 IEA
    four-way junction helicase activity GO:0009378 IDA
    ATP binding GO:0005524 IDA
    G-quadruplex DNA binding GO:0051880 IDA
    bubble DNA binding GO:0000405 IDA
Biological Process
    protein oligomerization GO:0051259 IDA
    regulation of binding GO:0051098 IEA
    alpha-beta T cell differentiation GO:0046632 IEA
    double-strand break repair via homologous recombination GO:0000724 NAS
    DNA duplex unwinding GO:0032508 IMP
    DNA recombination GO:0006310 NAS
    DNA double-strand break processing GO:0000729 IDA
    post-translational protein modification GO:0043687 TAS
    negative regulation of mitotic recombination GO:0045950 IEA
    mitotic G2 DNA damage checkpoint GO:0007095 IDA
    replication fork protection GO:0048478 NAS
    cellular response to hydroxyurea GO:0072711 IDA
    positive regulation of alpha-beta T cell proliferation GO:0046641 IEA
    telomere maintenance GO:0000723 IEA
    cellular response to DNA damage stimulus GO:0006974 IMP
    DNA strand renaturation GO:0000733 IDA
    replication fork processing GO:0031297 IDA
    DNA repair GO:0006281 NAS
    negative regulation of thymocyte apoptotic process GO:0070244 IEA
    cellular response to ionizing radiation GO:0071479 IDA
    regulation of cyclin-dependent protein serine/threonine kinase activity GO:0000079 IMP
    negative regulation of DNA recombination GO:0045910 IMP
    cellular protein metabolic process GO:0044267 TAS
    negative regulation of cell division GO:0051782 IMP
    response to X-ray GO:0010165 IDA
    positive regulation of transcription, DNA-templated GO:0045893 IDA
    cellular response to camptothecin GO:0072757 IDA
    protein sumoylation GO:0016925 TAS
Subcellular Localization
    pronucleus GO:0045120 IEA
    male germ cell nucleus GO:0001673 IEA
    replication fork GO:0005657 IEA
    lateral element GO:0000800 IDA
    cytoplasm GO:0005737 IDA
    chromosome, telomeric region GO:0000781 IDA
    nuclear matrix GO:0016363 IDA
    nucleolus GO:0005730 IDA
    PML body GO:0016605 IDA
    nucleoplasm GO:0005654 TAS
    nuclear chromosome GO:0000228 IDA
    nucleus GO:0005634 IDA
 Experiment description of studies that identified BLM in exosomes
1
Experiment ID 217
ISEV standards
EM
EV Biophysical techniques
TSG101
EV Cytosolic markers
CD81|CD9|CD63
EV Membrane markers
EV Negative markers
NTA
EV Particle analysis
Identified molecule protein
Identification method Mass spectrometry
PubMed ID 23844026    
Organism Homo sapiens
Experiment description Characterization of human thymic exosomes.
Authors Skogberg G, Gudmundsdottir J, van der Post S, Sandstrom K, Bruhn S, Benson M, Mincheva-Nilsson L, Baranov V, Telemo E, Ekwall O.
Journal name PLoS One
Publication year 2013
Sample Thymus
Sample name Normal-Thymus
Isolation/purification methods Differential centrifugation
Filtration
Ultracentrifugation
Flotation density -
Molecules identified in the study Protein
Methods used in the study Mass spectrometry
 Protein-protein interactions for BLM
  Protein Interactor ExoCarta ID Identification method PubMed Species
1 TP53BP1  
Affinity Capture-Western Homo sapiens
Co-localization Homo sapiens
Affinity Capture-Western Homo sapiens
2 TERF2  
Invivo Homo sapiens
Invitro Homo sapiens
Reconstituted Complex Homo sapiens
3 FANCD2  
Affinity Capture-Western Homo sapiens
4 MSH6 2956
Co-purification Homo sapiens
5 MSH2 4436
Co-purification Homo sapiens
6 FEN1 2237
Affinity Capture-Western Homo sapiens
Reconstituted Complex Homo sapiens
7 XRCC2  
Affinity Capture-Western Homo sapiens
Reconstituted Complex Homo sapiens
Affinity Capture-Western Homo sapiens
8 RPA1 6117
Reconstituted Complex Homo sapiens
Biochemical Activity Homo sapiens
9 BRCA1 672
Co-purification Homo sapiens
10 MX1 4599
Two-hybrid Homo sapiens
11 MRE11A 4361
Co-purification Homo sapiens
12 RAD51L3  
Two-hybrid Homo sapiens
Affinity Capture-Western Homo sapiens
Reconstituted Complex Homo sapiens
Far Western Homo sapiens
13 MLH1 4292
Invivo Homo sapiens
Invitro Homo sapiens
Two-hybrid Homo sapiens
Co-purification Homo sapiens
Two-hybrid Homo sapiens
Far Western Homo sapiens
Affinity Capture-Western Homo sapiens
Reconstituted Complex Homo sapiens
Two-hybrid Homo sapiens
Far Western Homo sapiens
Affinity Capture-Western Homo sapiens
Far Western Homo sapiens
14 NBS1  
Co-purification Homo sapiens
15 WRN  
Affinity Capture-Western Homo sapiens
Reconstituted Complex Homo sapiens
16 RAD50 10111
Co-purification Homo sapiens
17 RFC1 5981
Co-purification Homo sapiens
18 TOP3A  
Far Western Homo sapiens
Affinity Capture-Western Homo sapiens
Affinity Capture-Western Homo sapiens
Co-localization Homo sapiens
Affinity Capture-Western Homo sapiens
Invivo Homo sapiens
Invivo Homo sapiens
Invitro Homo sapiens
Invitro Homo sapiens
Reconstituted Complex Homo sapiens
Far Western Homo sapiens
Co-localization Homo sapiens
Affinity Capture-Western Homo sapiens
Far Western Homo sapiens
19 FANCA  
Affinity Capture-MS Homo sapiens
20 ATM  
Co-purification Homo sapiens
Affinity Capture-Western Homo sapiens
Reconstituted Complex Homo sapiens
21 CHAF1A  
Far Western Homo sapiens
Affinity Capture-Western Homo sapiens
Two-hybrid Homo sapiens
22 CASP3 836
Biochemical Activity Homo sapiens
23 TP53  
Affinity Capture-Western Homo sapiens
Affinity Capture-Western Homo sapiens
Co-localization Homo sapiens
Affinity Capture-Western Homo sapiens
Co-localization Homo sapiens
Affinity Capture-Western Homo sapiens
Reconstituted Complex Homo sapiens
Affinity Capture-Western Homo sapiens
Two-hybrid Homo sapiens
Affinity Capture-Western Homo sapiens
Reconstituted Complex Homo sapiens
24 CHEK1  
Affinity Capture-Western Homo sapiens
Co-localization Homo sapiens
25 RAD51  
Invivo Homo sapiens
Invitro Homo sapiens
Affinity Capture-Western Homo sapiens
Two-hybrid Homo sapiens
Two-hybrid Homo sapiens
Far Western Homo sapiens
Affinity Capture-Western Homo sapiens
26 H2AFX 3014
Affinity Capture-Western Homo sapiens
Co-localization Homo sapiens
View the network image/svg+xml
 Pathways in which BLM is involved
PathwayEvidenceSource
Meiotic recombination TAS Reactome
SUMOylation of DNA damage response and repair proteins TAS Reactome





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