Gene content    
BLM ( by HUGO)
Bloom Syndrome, RecQ Helicase-Like
Tumor suppressor gene
Bloom Syndrome
RecQ Helicase-Like
RECQ2
RECQL3
RecQ Protein-Like 3
DNA Helicase
RecQ-Like Type 2
BS
Bloom Syndrome
RECQL2
Bloom Syndrome Protein
EC 3.6.4.12
RecQ2
EC 3.6.1
NCBI: 15q26.1    Ensembl: 15q26.1
BLM_HUMANSize: 1417 amino acidsMass: 159000 Da

  • Subunit: Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBS1 protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts with ubiquitinated FANCD2. Interacts with RMI complex. Interacts directly with RMI1 (via N-terminus region) component of RMI complex. Interacts with SUPV3L1. Found in a complex, at least composed of BLM, RAD51 and SPIDR; the complex formation is mediated by SPIDR. Interacts with TOP3A (via N-terminus region). Interacts with SPIDR (via C-terminus region); the interaction is direct and required to target BLM to sites of DNA damage 6 PDB 3D structures from [IMAGE] and Proteopedia [IMAGE] for BLM: 2KV2 (3D) [IMAGE] 2RRD (3D) [IMAGE] 3WE2 (3D) [IMAGE] 3WE3 (3D) [IMAGE] 4CDG (3D) [IMAGE] 4CGZ (3D) [IMAGE]
  • Function:
    Participates in DNA replication and repair. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3'-5' direction. Involved in 5'-end resection of DNA during double-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNA. Negatively regulates sister chromatid exchange (SCE)
                          
    Participates in DNA replication and repair. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3'-5' direction. Involved in 5'-end resection of DNA during double-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNA. Negatively regulates sister chromatid exchange (SCE)
  • Catalytic activity:
    ATP + H(2)O = ADP + phosphate
  • Similarity:
    Belongs to the helicase family. RecQ subfamily
                          
    Contains 1 helicase ATP-binding domain
                          
    Contains 1 helicase C-terminal domain
                          
    Contains 1 HRDC domain [IMAGE]
  • Protein Domain/Family    
    Source ID Domain Name Type
    InterProIPR001650Helicase_CHelicase, C-terminalDomain
    IPR002121HRDC_domHRDCDomain
    IPR002464DNA/RNA_helicase_DEAH_CSATP-dependent helicase, DEAH-boxFamily
    IPR004589DNA_helicase_ATP-dep_RecQATP-dependent DNA helicase RecQFamily
    IPR010997HRDC-likeHRDC-likeDomain
    IPR011545DNA/RNA_helicase_DEAD/DEAH_NDEAD/DEAH box helicase, N-terminalDomain
    IPR011991WHTH_DNA-bd_domWinged helix repressor DNA-bindingDomain
    IPR012532BDHCTBDHCTDomain
    BlocksIPB002121HRDC domainHRDC domain
    IPB002464ATP-dependent helicaseATP-dependent helicase, DEAH-box

    Gene Ontology    
    Type Term Evidence Source Pub
    Biological Process ATP catabolic process IDA GOA 12818200
    cellular response to DNA damage stimulus IMP GOA 12818200
    DNA duplex unwinding IDA GOA 11433031
    DNA recombination NAS GOA 10728666
    DNA repair NAS GOA 7585968
    DNA strand renaturation IDA GOA 17878217
    double-strand break repair via homologous recombination NAS GOA 11309417
    mitotic G2 DNA damage checkpoint IDA GOA 11309417
    negative regulation of cell division IMP GOA 11781842
    negative regulation of DNA recombination IMP GOA 9671747
    positive regulation of transcription, DNA-templated IDA GOA 11781842
    protein oligomerization IDA GOA 10359700
    regulation of cyclin-dependent protein serine/threonine kinase activity IMP GOA 15604258
    replication fork processing IDA GOA 17115688
    replication fork protection NAS GOA 10779560
    response to X-ray IDA GOA 11309417
    Cellular Component colocalizes_with chromosome, telomeric region IDA GOA 10779560
    colocalizes_with PML body IDA GOA 10779560
    lateral element IDA GOA 10728666
    nuclear matrix IDA GOA 11309417
    nucleolus IDA GOA 10779560
    nucleus IDA GOA 11500040
    PML body IDA GOA 10728666
    Molecular Function ATP binding IDA GOA 17878217
    ATP-dependent DNA helicase activity IDA GOA 9388193
    ATP-dependent helicase activity IDA GOA 12818200
    ATPase activity IDA GOA 17878217
    bubble DNA binding IDA GOA 11433031
    four-way junction helicase activity IDA GOA 11433031
    G-quadruplex DNA binding IDA GOA 11433031
    helicase activity IDA GOA 10871376
    p53 binding IPI GOA 11781842
    protein binding IPI GOA 10728666
    single-stranded DNA binding IDA GOA 12818200

    Disorder & Mutation    
    Source Disease
    GenatlasBloom syndrome,characterized by dwarfism,sun sensitivity,immunodeficiency and a high risk for various cancers,,with increased chromosomal instability (increased large DNA deletions) and sister chromatide exchanges
    SWISS-PROTBloom syndrome (BLM) [MIM:210900]: An autosomal recessive disorder. It is characterized by proportionate pre- and postnatal growth deficiency, sun-sensitive telangiectatic hypo- and hyperpigmented skin, predisposition to malignancy, and chromosomal instability. Note=The disease is caused by mutations affecting the gene represented in this entry

    BLM cross reference    
    PubMed OMIM Entrez Gene NCKU SNP Nucleotide UniProt Genome Data Viewer HomoloGene