Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol BLM contributors: mct/ - updated : 29-03-2010
HGNC name Bloom syndrome, RecQ helicase-like
HGNC id 1058
Corresponding disease
BLMS Bloom syndrome
Location 15q26.1      Physical location : 91.260.578 - 91.358.684
Synonym name
  • RECQ protein-like 3
  • DNA helicase, RecQ-like type 2
  • Synonym symbol(s) BS, RECQL3, RECQ2, RECQL2, MGC126616, MGC131618, MGC131620, RMI2, C16orf75, BLAP18, C16orf75
    EC.number 3.6.1.-
    DNA
    TYPE functioning gene
    STRUCTURE 98.11 kb     22 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map cen - D15S1131 - D15S996 - D15S1153 - D15S1159 - D15S1108 - BLM - D15S1132 - D15S1141 - D15S1130 - D15S1142 - D15S1129 - D15S1143 - D15S1144 - D15S1145 - D15S1146 - D15S1147 - D15S1148 - D15S1149 - D15S127 - D15S1150 - FURIN - FES - D15S1151 - D15S1152 - D15S158 - D15S1120 - D15S1139 - D15S1133 - qter
    Physical map
    AP3S2 15q25.2 adaptor-related protein complex 3, sigma 2 subunit MGC61550 15q26.1 hypothetical protein MGC61550 LOC390636 15 similar to zinc finger protein 495 DKFZp547K1113 15q26.1 hypothetical protein DKFZp547K1113 IDH2 15q21-qter isocitrate dehydrogenase 2 (NADP+), mitochondrial SEMA4B 15q25 sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B CIB1 15q25.3-q26.1 calcium and integrin binding 1 (calmyrin) LOC390637 15 similar to RIKEN cDNA D330012F22 gene LOC388173 15 similar to hypothetical protein 4921538O11 NEUGRIN 15q26.1 mesenchymal stem cell protein DSC92 LOC388174 15 similar to Golgi autoantigen, golgin subfamily a, 2; golgin-95; Golgi matrix protein GM130; SY11 protein GABARAPL3 15q25.1 GABA(A) receptors associated protein like 3 LOC342132 15q26.1 similar to zinc finger protein 29 IQGAP1 15q26.1 IQ motif containing GTPase activating protein 1 FLJ21868 15q26.1 hypothetical protein FLJ21868 LOC388175 15 similar to hypothetical protein FLJ20147 BLM 15q26.1 Bloom syndrome FURIN 15q26.1 furin (paired basic amino acid cleaving enzyme) FES 15q26.1 feline sarcoma oncogene MAN2A2 15q25 mannosidase, alpha, class 2A, member 2 MGC45386 15q26.1 Similar to RIKEN cDNA 1110033O09 gene LOC388176 15 LOC388176 SMAP-1 15q26.1 smooth muscle cell associated protein-1 MGC14386 15q26.1 similar to cyclin-E binding protein 1 (H. sapiens) PRC1 15q26.1 protein regulator of cytokinesis 1 VPS33B 15q26.1 vacuolar protein sorting 33B (yeast) LOC390638 15 similar to Golgi autoantigen, golgin subfamily a, 2; golgin-95; Golgi matrix protein GM130; SY11 protein SV2B 15q26.1 synaptic vesicle glycoprotein 2B
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    22 - 4528 158 1417 - 1995 7485150
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticthymus    
    Digestiveintestinelarge intestinecolon highly
    Lymphoid/Immunelymph node   highly
     tonsils   highly
    Reproductivemale systemtestis   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    cell lineage spermatocytes
    cell lines
    fluid/secretion
    at STAGE
    cell cycle     cell cycle, interphase, G1, S, G2, M
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • seven RecQ helicase domains (BLM helicase)
  • an acidic motif and two putative nuclear localization signals (NLS), in the C terminus
  • C-terminal domain is essential for strand annealing and a 60 AA stretch is important for both ssDNA binding and strand annealing
  • helicase and RNaseD C-terminal (HRDC) domain, conserved among members of the RecQ helicase family, regulating helicase activity by virtue of variations in its surface AAs, and that may be adapted for a unique function among RecQ helicases--that of bridging protein and DNA interactions
  • HOMOLOGY
    interspecies homolog to murine Blm (77.6pc)
    intraspecies homolog to RECQL5
    Homologene
    FAMILY
  • helicase family
  • RecQ subfamily
  • CATEGORY enzyme , DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    intracellular,nucleus,nucleolus
    text
  • colocalizing with RPA heterotrimeric ss DNA binding protein in meiotic prophase nuclei of spermatocytes division, cell cycle, M, prophase
  • colocalizing transitorily with RPA, PML in nuclear bodies
  • present in replication fork
  • basic FUNCTION
  • DNA helicase, ATP-dependent, atypical and highly DNA structure specific, unwinding single and double strand DNA in a 3'->5' direction, promoting an ATP-dependent branch migration of Holliday junctions
  • putatively suppressor of homologous recombination between closely opposed and replicating strands, and selected target during the execution of apoptosis
  • playing a role in recombination-mediated telomere lengthening
  • DNA damage sensor signaling the formation of DNA damage induced foci
  • playing a conserved role in recovery from perturbations in DNA replication and likely RecQ helicases act to restore productive DNA replication following S-phase arrest and hence prevent subsequent genomic instability
  • playing a role in chromosome segregation in addition to its function during DNA replication and repair
  • involved in the promotion of single-stranded DNA (ssDNA) annealing
  • functioning in dissociating alternative DNA structures during recombination and/or replication at telomeric ends
  • with TOP3A execute the dissolution of sister chromatids
  • might be involved in both early and late steps of homologous recombination
  • might regress replication forks as part of a genome maintenance pathway
  • having an anti-recombination role
  • involved in disruption of the Rad51-ssDNA (single-stranded DNA) filament, an active species that promotes homologous recombination, and stimulation of DNA repair synthesis
  • playing a a role with EXO1 in the initiation of recombinational DNA repair
  • stimulating DNA strand exchange activity of RAD51 without ATP hydrolysis
  • functions as a Holliday junction dissolvase
  • role in the maintenance of gene cluster genomic integrity
  • performs double-stranded DNA unwinding by fully active duplex destabilization
  • regulates several steps of homologous recombination (HR)-dependent repair of double-strand DNA breaks
  • appears to be a master regulator that is needed by INSL6 as well as by the TOP3/RMI complex to execute diverse functions in order to maintain normal replication and genome stability
  • BRIP1 catalytic activity and its effect on BLM protein stability contribute to preservation of genomic stability and a normal response to replication stress
  • WRN and BLM are critical for maintaining genomic stability and thought to function in accurate resolution of replication blockage
  • ERCC6L and BLM decorate ultrafine histone-negative DNA threads that link the segregating sister centromeres during anaphase
  • ERCC6L and BLM limit histone association with anaphase centromeric DNA threads and promote their resolution
  • BLM and RECQL4 have coordinated activities that promote genome stability
  • ERCC6L and BLM were required for the correct recruitment to the centromere of active TOP2A, an enzyme specialized in the catenation/decatenation process
  • BLM and ERCC6L cooperate in rendering centromeric catenates accessible to TOP2A, thereby facilitating correct centromere disjunction and preventing the formation of supernumerary centromeric ultrafine anaphase bridges
  • CELLULAR PROCESS cell life, cell death/apoptosis
    nucleotide, replication
    nucleotide, recombination
    nucleotide, repair, recombination
    nucleotide, genomic integrity
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    chromosome instability pathway
    a component
  • BLM-Top3A implicated in the regulation of recombination in somatic cells
  • component of the BRCA1-associated genome surveillance complex (BASC)
  • part of a multiprotein complex that protects genome stability
  • BLM-DNA2-RPA-NBN and EXO1-BLM-RPA-NBN constitute two DNA end resection machineries for human DNA break repair
  • INTERACTION
    DNA binding
    RNA
    small molecule metal binding, nucleotide,
  • Mg2+
  • ATP
  • protein
  • forms a complex with DNA topoisomerase IIIalpha (TOP3A)
  • MSH1
  • MLH1 (for some aspects of genetic recombination)
  • TRF1 and TRF2 (regulating BLM activity on telomeric structures)
  • WRN
  • DNA mismatch repair protein MSH6
  • interacts with proteins involved in DNA replication, recombination, and repair and is required for the repair of stalled-replication forks and in the DNA damage response
  • interaction with RPA or WRN helicases plays an important role in the mechanism for RPA stimulation of helicase-catalyzed DNA unwinding
  • interacting with ubiquitinated FANCD2
  • interacting with RMI1
  • interacting with POLD4
  • stimulates the nucleolytic activity of exonuclease 1 (EXO1), a 5prime¨3primedouble-stranded DNA exonuclease
  • interacting with XRCC3 (disruption of XRCC3 suppresses methanesulfonate and UV sensitivity and the methyl methanesulfonate- and UV-induced chromosomal aberrations of BLM cells, indicating that BLM acts downstream of XRCC3)
  • BLM and and BRIP1 were found to interact physically and functionally in human cells
  • ERCC6L binds to BLM and enables BLM localization to anaphase centromeric threads
  • SUPV3L1 interact with BLM and WRN, members of the RecQ helicase family involved in multiple DNA metabolic processes, and in protection and stabilization of the genome
  • functional relationship between BLM, ERCC6L and TOP2A in the centromere decatenation process
  • physical and functional interaction between BLM and RECQL4
  • cell & other
    REGULATION
    activated by upregulated at the G1-S stage of the cell cycle
    RAD51L3-XRCC2 complex
    Other stimulated by single and DNA double strand breaks
    regulated by TERF1, TERF2
    negatively regulated by SUMO modification
    degraded by a proteasome-mediated pathway when BRIP1 is depleted
    ASSOCIATED DISORDERS
    corresponding disease(s) BLMS
    related resource Bloom Syndrome-BLMbase
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral germinal mutation      
    in leukemia, lymphoma, skin tumor
    Susceptibility to colorectal cancer
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS