AutismKB 2.0

Annotation Details for BLM


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Basic Information Top
Gene Symbol:BLM ( BS,MGC126616,MGC131618,MGC131620,RECQ2,RECQL2,RECQL3 )
Gene Full Name: Bloom syndrome, RecQ helicase-like
Band: 15q26.1
Quick LinksEntrez ID:641; OMIM: 604610; Uniprot ID:BLM_HUMAN; ENSEMBL ID: ENSG00000197299; HGNC ID: 1058
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000228IDA-nuclear chromosome23509288
GO:0000781IDAcolocalizes_withchromosome, telomeric region10779560
GO:0000800IDA-lateral element10728666
GO:0005634IDA-nucleus9388480
GO:0005654TAS-nucleoplasm-
GO:0005657ISS-replication fork-
GO:0005730IDA-nucleolus10779560
GO:0005737IBA-cytoplasm-
GO:0005829IDA-cytosol-
GO:0016363IDA-nuclear matrix11309417
GO:0016605IDA-PML body10728666
GO:0016605IDAcolocalizes_withPML body10779560
GO ID Evidence Qualifier GO_term References
GO:0000400IDA-four-way junction DNA binding11735402
GO:0000403IDA-Y-form DNA binding11735402
GO:0000405IDA-bubble DNA binding11433031
GO:0002039IPI-p53 binding11781842
GO:0003678IDA-DNA helicase activity19734539
GO:0003697IDA-single-stranded DNA binding12818200
GO:0004003IDA-ATP-dependent DNA helicase activity9388193
GO:0004003IMP-ATP-dependent DNA helicase activity21325134
GO:0004386IDA-helicase activity10871376
GO:0005515IPI-protein binding10728666
GO:0005524IDA-ATP binding17878217
GO:0008026IDA-ATP-dependent helicase activity12818200
GO:0009378IDA-four-way junction helicase activity11433031
GO:0016887IDA-ATPase activity17878217
GO:0036310IDA-annealing helicase activity17878217
GO:0043140IBA-ATP-dependent 3'-5' DNA helicase activity-
GO:0051880IDA-G-quadruplex DNA binding11433031
GO:0061749IDA-forked DNA-dependent helicase activity11735402
GO:0061821IDA-telomeric D-loop binding19734539
GO:0061849IC-telomeric G-quadruplex DNA binding19734539
GO:1905773IDA-8-hydroxy-2'-deoxyguanosine DNA binding19734539
GO ID Evidence Qualifier GO_term References
GO:0000079IMP-regulation of cyclin-dependent protein serine/threonine kinase activity15604258
GO:0000724IBA-double-strand break repair via homologous recombination-
GO:0000724NAS-double-strand break repair via homologous recombination11309417
GO:0000729IDA-DNA double-strand break processing21325134
GO:0000731TAS-DNA synthesis involved in DNA repair-
GO:0000732TAS-strand displacement-
GO:0000733IEA-DNA strand renaturation-
GO:0006260ISS-DNA replication-
GO:0006260TAS-DNA replication-
GO:0006281NAS-DNA repair7585968
GO:0006310NAS-DNA recombination7585968
GO:0006974IDA-cellular response to DNA damage stimulus23509288
GO:0006974IMP-cellular response to DNA damage stimulus12818200
GO:0007095IDA-mitotic G2 DNA damage checkpoint11309417
GO:0010165IDA-response to X-ray11309417
GO:0031297IDA-replication fork processing17115688
GO:0032508IDA-DNA duplex unwinding11735402
GO:0044806IDA-G-quadruplex DNA unwinding11735402
GO:0044806ISS-G-quadruplex DNA unwinding-
GO:0045893IDA-positive regulation of transcription, DNA-templated11781842
GO:0045910IMP-negative regulation of DNA recombination9671747
GO:0048478NAS-replication fork protection10779560
GO:0051259IDA-protein oligomerization10359700
GO:0051782IMP-negative regulation of cell division11781842
GO:0061820IDA-telomeric D-loop disassembly19734539
GO:0071479IDA-cellular response to ionizing radiation23509288
GO:0072711IDA-cellular response to hydroxyurea23509288
GO:0072757IDA-cellular response to camptothecin23509288
GO:0090656TAS-t-circle formation27918544
GO:1901796TAS-regulation of signal transduction by p53 class mediator-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
BLMATM10711010783165 12034743 Affinity Capture-Western; Co-purification; Reconstituted Complex
BLMATM10696210783165 12034743 Affinity Capture-Western; Co-purification; Reconstituted Complex
BLMATR10702714729972 Affinity Capture-Western; Biochemical Activity
BLMATR10711014729972 Affinity Capture-Western; Biochemical Activity
TOP3ABLM11300910734115 10825162 11406610 11470874 Affinity Capture-Western; Co-localization; Far Western; Reconstituted Complex
TOP3ABLM10711010734115 10825162 11406610 11470874 Affinity Capture-Western; Co-localization; Far Western; Reconstituted Complex
MLH1BLM11043810783165 11325959 11470874 11691925 19015241 Affinity Capture-Western; Co-purification; Far Western; Protein-peptide; Reconstituted Complex; Two-hybrid
MLH1BLM10711010783165 11325959 11470874 11691925 19015241 Affinity Capture-Western; Co-purification; Far Western; Protein-peptide; Reconstituted Complex; Two-hybrid
RAD50BLM11541710783165 Co-purification
RAD50BLM10711010783165 Co-purification
MSH6BLM10921110783165 Co-purification
MSH6BLM10711010783165 Co-purification
MRE11ABLM10711010783165 Co-purification
MRE11ABLM11050110783165 Co-purification
MSH2BLM11057310783165 Co-purification
MSH2BLM10711010783165 Co-purification
NBNBLM11076310783165 Co-purification
NBNBLM10711010783165 Co-purification
RFC1BLM11191310783165 Co-purification
RFC1BLM10711010783165 Co-purification
BRCA1BLM10711010783165 Co-purification
BRCA1BLM10714010783165 Co-purification
RPA1BLM10711010825162 11950880 12181313 Biochemical Activity; Co-localization; Reconstituted Complex
RPA1BLM11203710825162 11950880 12181313 Biochemical Activity; Co-localization; Reconstituted Complex
RAD51BLM10711011278509 Affinity Capture-Western; Far Western; Two-hybrid
RAD51BLM11182511278509 Affinity Capture-Western; Far Western; Two-hybrid
TP53BLM11301011399766 11781842 12080066 15364958 Affinity Capture-Western; Co-localization; Reconstituted Complex; Two-hybrid
TP53BLM10711011399766 11781842 12080066 15364958 Affinity Capture-Western; Co-localization; Reconstituted Complex; Two-hybrid
CASP3BLM10728611470874 Biochemical Activity
CASP3BLM10711011470874 Biochemical Activity
MX1BLM11068411716541 Two-hybrid
MX1BLM10711011716541 Two-hybrid
WRNBLM11332311919194 Affinity Capture-Western; Reconstituted Complex
WRNBLM10711011919194 Affinity Capture-Western; Reconstituted Complex
TERF2BLM11287312181313 Reconstituted Complex
TERF2BLM10711012181313 Reconstituted Complex
FANCABLM10711012973351 Affinity Capture-MS
FANCABLM10847212973351 Affinity Capture-MS
RAD51L3BLM10711012975363 Affinity Capture-Western; Far Western; Reconstituted Complex; Two-hybrid
RAD51L3BLM11182912975363 Affinity Capture-Western; Far Western; Reconstituted Complex; Two-hybrid
XRCC2BLM11335012975363 Affinity Capture-Western; Reconstituted Complex
XRCC2BLM10711012975363 Affinity Capture-Western; Reconstituted Complex
FEN1BLM10711014688284 16326861 Affinity Capture-Western; Reconstituted Complex
FEN1BLM10852814688284 16326861 Affinity Capture-Western; Reconstituted Complex
CHAF1ABLM10711015143166 Affinity Capture-Western; Far Western; Two-hybrid
CHAF1ABLM11534915143166 Affinity Capture-Western; Far Western; Two-hybrid
FANCD2BLM10711015257300 Affinity Capture-Western
FANCD2BLM10847415257300 Affinity Capture-Western
CHEK1BLM10753615364958 Affinity Capture-Western; Co-localization
CHEK1BLM10711015364958 Affinity Capture-Western; Co-localization
H2AFXBLM10711015364958 Affinity Capture-Western; Co-localization
H2AFXBLM10926815364958 Affinity Capture-Western; Co-localization
TP53BP1BLM11301115364958 Affinity Capture-Western; Co-localization
TP53BP1BLM10711015364958 Affinity Capture-Western; Co-localization
UBE2IBLM11317715829507 Affinity Capture-Western; Two-hybrid
UBE2IBLM10711015829507 Affinity Capture-Western; Two-hybrid
MCRS1BLM11571015829507 Two-hybrid
MCRS1BLM10711015829507 Two-hybrid
PSMD3BLM10711015829507 Two-hybrid
PSMD3BLM11168215829507 Two-hybrid
SYN1BLM11271915829507 Two-hybrid
SYN1BLM10711015829507 Two-hybrid
SUMO3BLM11249616620772 Affinity Capture-MS
SUMO3BLM10711016620772 Affinity Capture-MS
SUMO2BLM11249716620772 Affinity Capture-MS
SUMO2BLM10711016620772 Affinity Capture-MS
PAXIP1BLM10711017500065 Affinity Capture-MS
PAXIP1BLM11662517500065 Affinity Capture-MS
EXO1BLM11460218971343 Affinity Capture-Western
EXO1BLM10711018971343 Affinity Capture-Western
FANCMBLM10711020064461 20347428 Affinity Capture-MS; Affinity Capture-Western
FANCMBLM12172220064461 20347428 Affinity Capture-MS; Affinity Capture-Western
RMI1BLM12306620064461 Affinity Capture-Western
RMI1BLM10711020064461 Affinity Capture-Western
APITD1BLM13204420347429 Affinity Capture-MS
APITD1BLM10711020347429 Affinity Capture-MS
BRIP1BLM12384121240188 Affinity Capture-Luminescence; Affinity Capture-Western; Reconstituted Complex
BRIP1BLM10711021240188 Affinity Capture-Luminescence; Affinity Capture-Western; Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1328362
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-070702-5'