BLM


Summary: The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
Bloom syndrome RecQ like helicaseMIM:604610Ensembl:ENSG00000197299HGNC:HGNC:1058PA2536915q26.1

GO terms in BLM


Term TypeEvidence TypeGO Term IDGO Des.
CCIBAGO:0000228nuclear chromosome
CCIDAGO:0000228nuclear chromosome
CCIBAGO:0000781chromosome, telomeric region
CCIDAGO:0000781chromosome, telomeric region
CCIBAGO:0000800lateral element
CCIDAGO:0000800lateral element
CCIBAGO:0005634nucleus
CCIDAGO:0005634nucleus
CCTASGO:0005654nucleoplasm
CCIBAGO:0005657replication fork
CCISSGO:0005657replication fork
CCIBAGO:0005694chromosome
CCIBAGO:0005730nucleolus
CCIDAGO:0005730nucleolus
CCIBAGO:0005737cytoplasm
CCIBAGO:0005829cytosol
CCIDAGO:0005829cytosol
CCIBAGO:0016363nuclear matrix
CCIDAGO:0016363nuclear matrix
CCIBAGO:0016605PML body
CCIDAGO:0016605PML body
CCIDAGO:0016605PML body
CCIBAGO:0045120pronucleus
BPIBAGO:0000079regulation of cyclin-dependent protein serine/threonine kinase activity
BPIMPGO:0000079regulation of cyclin-dependent protein serine/threonine kinase activity
BPIBAGO:0000712resolution of meiotic recombination intermediates
BPIBAGO:0000724double-strand break repair via homologous recombination
BPNASGO:0000724double-strand break repair via homologous recombination
BPIDAGO:0000729DNA double-strand break processing
BPIBAGO:0000731DNA synthesis involved in DNA repair
BPIBAGO:0000732strand displacement
BPIEAGO:0000733DNA strand renaturation
BPISSGO:0006260DNA replication
BPTASGO:0006260DNA replication
BPIBAGO:0006281DNA repair
BPNASGO:0006281DNA repair
BPIBAGO:0006303double-strand break repair via nonhomologous end joining
BPIBAGO:0006310DNA recombination
BPNASGO:0006310DNA recombination
BPIDAGO:0006974cellular response to DNA damage stimulus
BPIMPGO:0006974cellular response to DNA damage stimulus
BPIBAGO:0007095mitotic G2 DNA damage checkpoint
BPIDAGO:0007095mitotic G2 DNA damage checkpoint
BPIBAGO:0010165response to X-ray
BPIDAGO:0010165response to X-ray
BPIBAGO:0010705meiotic DNA double-strand break processing involved in reciprocal meiotic recombination
BPIBAGO:0031297replication fork processing
BPIDAGO:0031297replication fork processing
BPIBAGO:0032508DNA duplex unwinding
BPIDAGO:0032508DNA duplex unwinding
BPIBAGO:0043066negative regulation of apoptotic process
BPIBAGO:0044806G-quadruplex DNA unwinding
BPIDAGO:0044806G-quadruplex DNA unwinding
BPISSGO:0044806G-quadruplex DNA unwinding
BPIBAGO:0045003double-strand break repair via synthesis-dependent strand annealing
BPIBAGO:0045893positive regulation of transcription, DNA-templated
BPIDAGO:0045893positive regulation of transcription, DNA-templated
BPIMPGO:0045910negative regulation of DNA recombination
BPIBAGO:0045950negative regulation of mitotic recombination
BPIBAGO:0046632alpha-beta T cell differentiation
BPIBAGO:0046641positive regulation of alpha-beta T cell proliferation
BPNASGO:0048478replication fork protection
BPIDAGO:0051259protein complex oligomerization
BPIBAGO:0051260protein homooligomerization
BPIDAGO:0051260protein homooligomerization
BPIBAGO:0051307meiotic chromosome separation
BPIBAGO:0051782negative regulation of cell division
BPIMPGO:0051782negative regulation of cell division
BPIBAGO:0061820telomeric D-loop disassembly
BPIDAGO:0061820telomeric D-loop disassembly
BPIBAGO:0070244negative regulation of thymocyte apoptotic process
BPIBAGO:0071139resolution of recombination intermediates
BPIBAGO:0071479cellular response to ionizing radiation
BPIDAGO:0071479cellular response to ionizing radiation
BPIBAGO:0072711cellular response to hydroxyurea
BPIDAGO:0072711cellular response to hydroxyurea
BPIDAGO:0072757cellular response to camptothecin
BPIBAGO:0090329regulation of DNA-dependent DNA replication
BPIMPGO:0090329regulation of DNA-dependent DNA replication
BPTASGO:0090656t-circle formation
BPIBAGO:1901291negative regulation of double-strand break repair via single-strand annealing
BPIBAGO:1905168positive regulation of double-strand break repair via homologous recombination
MFIBAGO:0000400four-way junction DNA binding
MFIDAGO:0000400four-way junction DNA binding
MFIBAGO:0000403Y-form DNA binding
MFIDAGO:0000403Y-form DNA binding
MFIBAGO:0000405bubble DNA binding
MFIDAGO:0000405bubble DNA binding
MFIBAGO:0002039p53 binding
MFIPIGO:0002039p53 binding
MFIBAGO:0003677DNA binding
MFIDAGO:0003677DNA binding
MFIDAGO:0003678DNA helicase activity
MFIBAGO:0003697single-stranded DNA binding
MFIDAGO:0003697single-stranded DNA binding
MFIDAGO:0004003ATP-dependent DNA helicase activity
MFIMPGO:0004003ATP-dependent DNA helicase activity
MFIDAGO:0004386helicase activity
MFIPIGO:0005515protein binding
MFIBAGO:0005524ATP binding
MFIDAGO:0005524ATP binding
MFIDAGO:0008026ATP-dependent helicase activity
MFIDAGO:0008094DNA-dependent ATPase activity
MFIBAGO:0008270zinc ion binding
MFIDAGO:0008270zinc ion binding
MFIBAGO:0009378four-way junction helicase activity
MFIDAGO:0009378four-way junction helicase activity
MFIDAGO:0016887ATPase activity
MFIBAGO:0036310annealing helicase activity
MFIDAGO:0036310annealing helicase activity
MFIBAGO:0042803protein homodimerization activity
MFIDAGO:0042803protein homodimerization activity
MFIBAGO:0043140ATP-dependent 3'-5' DNA helicase activity
MFIDAGO:0051880G-quadruplex DNA binding
MFIBAGO:0061749forked DNA-dependent helicase activity
MFIDAGO:0061749forked DNA-dependent helicase activity
MFIBAGO:0061821telomeric D-loop binding
MFIDAGO:0061821telomeric D-loop binding
MFICGO:0061849telomeric G-quadruplex DNA binding
MFIBAGO:19057738-hydroxy-2'-deoxyguanosine DNA binding
MFIDAGO:19057738-hydroxy-2'-deoxyguanosine DNA binding

Gene expression in normal tissue: BLM

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in BLM


DatabasePathway IDPathway Des.
kegghsa03440Homologous recombination - Homo sapiens (human)
kegghsa03460Fanconi anemia pathway - Homo sapiens (human)
pidatm_pathwayATM pathway
pidfanconi_pathwayFanconi anemia pathway
pidtelomerasepathwayRegulation of Telomerase
reactomeR-HSA-1474165Reproduction
reactomeR-HSA-1500620Meiosis
reactomeR-HSA-1640170Cell Cycle
reactomeR-HSA-1640170Cell Cycle
reactomeR-HSA-212436Generic Transcription Pathway
reactomeR-HSA-2990846SUMOylation
reactomeR-HSA-3108214SUMOylation of DNA damage response and repair proteins
reactomeR-HSA-3108232SUMO E3 ligases SUMOylate target proteins
reactomeR-HSA-3700989Transcriptional Regulation by TP53
reactomeR-HSA-392499Metabolism of proteins
reactomeR-HSA-5633007Regulation of TP53 Activity
reactomeR-HSA-5685938HDR through Single Strand Annealing (SSA)
reactomeR-HSA-5685942HDR through Homologous Recombination (HRR)
reactomeR-HSA-5693532DNA Double-Strand Break Repair
reactomeR-HSA-5693537Resolution of D-Loop Structures
reactomeR-HSA-5693538Homology Directed Repair
reactomeR-HSA-5693554Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
reactomeR-HSA-5693567HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA)
reactomeR-HSA-5693568Resolution of D-loop Structures through Holliday Junction Intermediates
reactomeR-HSA-5693579Homologous DNA Pairing and Strand Exchange
reactomeR-HSA-5693607Processing of DNA double-strand break ends
reactomeR-HSA-5693616Presynaptic phase of homologous DNA pairing and strand exchange
reactomeR-HSA-597592Post-translational protein modification
reactomeR-HSA-6804756Regulation of TP53 Activity through Phosphorylation
reactomeR-HSA-69473G2/M DNA damage checkpoint
reactomeR-HSA-69481G2/M Checkpoints
reactomeR-HSA-69620Cell Cycle Checkpoints
reactomeR-HSA-73857RNA Polymerase II Transcription
reactomeR-HSA-73894DNA Repair
reactomeR-HSA-74160Gene expression (Transcription)
reactomeR-HSA-912446Meiotic recombination

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD251ML1623
iGMDRD121GMX17785
iGMDRD434BMS-5369242
iGMDRD286Nsc 6328395
iGMDRD147Prima-12
iGMDRD505Pevonedistat3
iGMDRD322FK 8663
iGMDRD512nutlin 36
iGMDRD116CD4371
iGMDRD698Neratinib3
iGMDRD57Chloropentafluorobenzene3
iGMDRD351GW843682X2
iGMDRD211(1S,3R)-RSL32
iGMDRD270Ciclosporin2
iGMDRD187BRD98761
iGMDRD52Rotenone3
iGMDRD74Idarubicin2
iGMDRD188Piperlongumine3
iGMDRD100Zebularine1
iGMDRD577BIX012942
iGMDRD268Cerulenin2
iGMDRD23Gossypol2
iGMDRD356PNU-746542
iGMDRD126Tipifarnib2
iGMDRD420Leucascandrolide A3
iGMDRD772BRD47702
iGMDRD599Salermide1
iGMDRD144NSC953972
iGMDRD781Sirolimus2
iGMDRD494Neopeltolide1
iGMDRD446LY 21832402
iGMDRD61Kinetin riboside2
iGMDRD193Fqi11
iGMDRD152179324-69-73
iGMDRD466Chaetocin2

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in BLM

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