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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| Bloom syndrome RecQ like helicase | MIM:604610 | Ensembl:ENSG00000197299 | HGNC:HGNC:1058 | PA25369 | 15q26.1 |
GO terms in BLM
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IBA | GO:0000228 | nuclear chromosome |
| CC | IDA | GO:0000228 | nuclear chromosome |
| CC | IBA | GO:0000781 | chromosome, telomeric region |
| CC | IDA | GO:0000781 | chromosome, telomeric region |
| CC | IBA | GO:0000800 | lateral element |
| CC | IDA | GO:0000800 | lateral element |
| CC | IBA | GO:0005634 | nucleus |
| CC | IDA | GO:0005634 | nucleus |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IBA | GO:0005657 | replication fork |
| CC | ISS | GO:0005657 | replication fork |
| CC | IBA | GO:0005694 | chromosome |
| CC | IBA | GO:0005730 | nucleolus |
| CC | IDA | GO:0005730 | nucleolus |
| CC | IBA | GO:0005737 | cytoplasm |
| CC | IBA | GO:0005829 | cytosol |
| CC | IDA | GO:0005829 | cytosol |
| CC | IBA | GO:0016363 | nuclear matrix |
| CC | IDA | GO:0016363 | nuclear matrix |
| CC | IBA | GO:0016605 | PML body |
| CC | IDA | GO:0016605 | PML body |
| CC | IDA | GO:0016605 | PML body |
| CC | IBA | GO:0045120 | pronucleus |
| BP | IBA | GO:0000079 | regulation of cyclin-dependent protein serine/threonine kinase activity |
| BP | IMP | GO:0000079 | regulation of cyclin-dependent protein serine/threonine kinase activity |
| BP | IBA | GO:0000712 | resolution of meiotic recombination intermediates |
| BP | IBA | GO:0000724 | double-strand break repair via homologous recombination |
| BP | NAS | GO:0000724 | double-strand break repair via homologous recombination |
| BP | IDA | GO:0000729 | DNA double-strand break processing |
| BP | IBA | GO:0000731 | DNA synthesis involved in DNA repair |
| BP | IBA | GO:0000732 | strand displacement |
| BP | IEA | GO:0000733 | DNA strand renaturation |
| BP | ISS | GO:0006260 | DNA replication |
| BP | TAS | GO:0006260 | DNA replication |
| BP | IBA | GO:0006281 | DNA repair |
| BP | NAS | GO:0006281 | DNA repair |
| BP | IBA | GO:0006303 | double-strand break repair via nonhomologous end joining |
| BP | IBA | GO:0006310 | DNA recombination |
| BP | NAS | GO:0006310 | DNA recombination |
| BP | IDA | GO:0006974 | cellular response to DNA damage stimulus |
| BP | IMP | GO:0006974 | cellular response to DNA damage stimulus |
| BP | IBA | GO:0007095 | mitotic G2 DNA damage checkpoint |
| BP | IDA | GO:0007095 | mitotic G2 DNA damage checkpoint |
| BP | IBA | GO:0010165 | response to X-ray |
| BP | IDA | GO:0010165 | response to X-ray |
| BP | IBA | GO:0010705 | meiotic DNA double-strand break processing involved in reciprocal meiotic recombination |
| BP | IBA | GO:0031297 | replication fork processing |
| BP | IDA | GO:0031297 | replication fork processing |
| BP | IBA | GO:0032508 | DNA duplex unwinding |
| BP | IDA | GO:0032508 | DNA duplex unwinding |
| BP | IBA | GO:0043066 | negative regulation of apoptotic process |
| BP | IBA | GO:0044806 | G-quadruplex DNA unwinding |
| BP | IDA | GO:0044806 | G-quadruplex DNA unwinding |
| BP | ISS | GO:0044806 | G-quadruplex DNA unwinding |
| BP | IBA | GO:0045003 | double-strand break repair via synthesis-dependent strand annealing |
| BP | IBA | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IDA | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IMP | GO:0045910 | negative regulation of DNA recombination |
| BP | IBA | GO:0045950 | negative regulation of mitotic recombination |
| BP | IBA | GO:0046632 | alpha-beta T cell differentiation |
| BP | IBA | GO:0046641 | positive regulation of alpha-beta T cell proliferation |
| BP | NAS | GO:0048478 | replication fork protection |
| BP | IDA | GO:0051259 | protein complex oligomerization |
| BP | IBA | GO:0051260 | protein homooligomerization |
| BP | IDA | GO:0051260 | protein homooligomerization |
| BP | IBA | GO:0051307 | meiotic chromosome separation |
| BP | IBA | GO:0051782 | negative regulation of cell division |
| BP | IMP | GO:0051782 | negative regulation of cell division |
| BP | IBA | GO:0061820 | telomeric D-loop disassembly |
| BP | IDA | GO:0061820 | telomeric D-loop disassembly |
| BP | IBA | GO:0070244 | negative regulation of thymocyte apoptotic process |
| BP | IBA | GO:0071139 | resolution of recombination intermediates |
| BP | IBA | GO:0071479 | cellular response to ionizing radiation |
| BP | IDA | GO:0071479 | cellular response to ionizing radiation |
| BP | IBA | GO:0072711 | cellular response to hydroxyurea |
| BP | IDA | GO:0072711 | cellular response to hydroxyurea |
| BP | IDA | GO:0072757 | cellular response to camptothecin |
| BP | IBA | GO:0090329 | regulation of DNA-dependent DNA replication |
| BP | IMP | GO:0090329 | regulation of DNA-dependent DNA replication |
| BP | TAS | GO:0090656 | t-circle formation |
| BP | IBA | GO:1901291 | negative regulation of double-strand break repair via single-strand annealing |
| BP | IBA | GO:1905168 | positive regulation of double-strand break repair via homologous recombination |
| MF | IBA | GO:0000400 | four-way junction DNA binding |
| MF | IDA | GO:0000400 | four-way junction DNA binding |
| MF | IBA | GO:0000403 | Y-form DNA binding |
| MF | IDA | GO:0000403 | Y-form DNA binding |
| MF | IBA | GO:0000405 | bubble DNA binding |
| MF | IDA | GO:0000405 | bubble DNA binding |
| MF | IBA | GO:0002039 | p53 binding |
| MF | IPI | GO:0002039 | p53 binding |
| MF | IBA | GO:0003677 | DNA binding |
| MF | IDA | GO:0003677 | DNA binding |
| MF | IDA | GO:0003678 | DNA helicase activity |
| MF | IBA | GO:0003697 | single-stranded DNA binding |
| MF | IDA | GO:0003697 | single-stranded DNA binding |
| MF | IDA | GO:0004003 | ATP-dependent DNA helicase activity |
| MF | IMP | GO:0004003 | ATP-dependent DNA helicase activity |
| MF | IDA | GO:0004386 | helicase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IBA | GO:0005524 | ATP binding |
| MF | IDA | GO:0005524 | ATP binding |
| MF | IDA | GO:0008026 | ATP-dependent helicase activity |
| MF | IDA | GO:0008094 | DNA-dependent ATPase activity |
| MF | IBA | GO:0008270 | zinc ion binding |
| MF | IDA | GO:0008270 | zinc ion binding |
| MF | IBA | GO:0009378 | four-way junction helicase activity |
| MF | IDA | GO:0009378 | four-way junction helicase activity |
| MF | IDA | GO:0016887 | ATPase activity |
| MF | IBA | GO:0036310 | annealing helicase activity |
| MF | IDA | GO:0036310 | annealing helicase activity |
| MF | IBA | GO:0042803 | protein homodimerization activity |
| MF | IDA | GO:0042803 | protein homodimerization activity |
| MF | IBA | GO:0043140 | ATP-dependent 3'-5' DNA helicase activity |
| MF | IDA | GO:0051880 | G-quadruplex DNA binding |
| MF | IBA | GO:0061749 | forked DNA-dependent helicase activity |
| MF | IDA | GO:0061749 | forked DNA-dependent helicase activity |
| MF | IBA | GO:0061821 | telomeric D-loop binding |
| MF | IDA | GO:0061821 | telomeric D-loop binding |
| MF | IC | GO:0061849 | telomeric G-quadruplex DNA binding |
| MF | IBA | GO:1905773 | 8-hydroxy-2'-deoxyguanosine DNA binding |
| MF | IDA | GO:1905773 | 8-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
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa03440 | Homologous recombination - Homo sapiens (human) |
| kegg | hsa03460 | Fanconi anemia pathway - Homo sapiens (human) |
| pid | atm_pathway | ATM pathway |
| pid | fanconi_pathway | Fanconi anemia pathway |
| pid | telomerasepathway | Regulation of Telomerase |
| reactome | R-HSA-1474165 | Reproduction |
| reactome | R-HSA-1500620 | Meiosis |
| reactome | R-HSA-1640170 | Cell Cycle |
| reactome | R-HSA-1640170 | Cell Cycle |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-2990846 | SUMOylation |
| reactome | R-HSA-3108214 | SUMOylation of DNA damage response and repair proteins |
| reactome | R-HSA-3108232 | SUMO E3 ligases SUMOylate target proteins |
| reactome | R-HSA-3700989 | Transcriptional Regulation by TP53 |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-5633007 | Regulation of TP53 Activity |
| reactome | R-HSA-5685938 | HDR through Single Strand Annealing (SSA) |
| reactome | R-HSA-5685942 | HDR through Homologous Recombination (HRR) |
| reactome | R-HSA-5693532 | DNA Double-Strand Break Repair |
| reactome | R-HSA-5693537 | Resolution of D-Loop Structures |
| reactome | R-HSA-5693538 | Homology Directed Repair |
| reactome | R-HSA-5693554 | Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) |
| reactome | R-HSA-5693567 | HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA) |
| reactome | R-HSA-5693568 | Resolution of D-loop Structures through Holliday Junction Intermediates |
| reactome | R-HSA-5693579 | Homologous DNA Pairing and Strand Exchange |
| reactome | R-HSA-5693607 | Processing of DNA double-strand break ends |
| reactome | R-HSA-5693616 | Presynaptic phase of homologous DNA pairing and strand exchange |
| reactome | R-HSA-597592 | Post-translational protein modification |
| reactome | R-HSA-6804756 | Regulation of TP53 Activity through Phosphorylation |
| reactome | R-HSA-69473 | G2/M DNA damage checkpoint |
| reactome | R-HSA-69481 | G2/M Checkpoints |
| reactome | R-HSA-69620 | Cell Cycle Checkpoints |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-73894 | DNA Repair |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-912446 | Meiotic recombination |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD251 | ML162 | 3 |
| iGMDRD121 | GMX1778 | 5 |
| iGMDRD434 | BMS-536924 | 2 |
| iGMDRD286 | Nsc 632839 | 5 |
| iGMDRD147 | Prima-1 | 2 |
| iGMDRD505 | Pevonedistat | 3 |
| iGMDRD322 | FK 866 | 3 |
| iGMDRD512 | nutlin 3 | 6 |
| iGMDRD116 | CD437 | 1 |
| iGMDRD698 | Neratinib | 3 |
| iGMDRD57 | Chloropentafluorobenzene | 3 |
| iGMDRD351 | GW843682X | 2 |
| iGMDRD211 | (1S,3R)-RSL3 | 2 |
| iGMDRD270 | Ciclosporin | 2 |
| iGMDRD187 | BRD9876 | 1 |
| iGMDRD52 | Rotenone | 3 |
| iGMDRD74 | Idarubicin | 2 |
| iGMDRD188 | Piperlongumine | 3 |
| iGMDRD100 | Zebularine | 1 |
| iGMDRD577 | BIX01294 | 2 |
| iGMDRD268 | Cerulenin | 2 |
| iGMDRD23 | Gossypol | 2 |
| iGMDRD356 | PNU-74654 | 2 |
| iGMDRD126 | Tipifarnib | 2 |
| iGMDRD420 | Leucascandrolide A | 3 |
| iGMDRD772 | BRD4770 | 2 |
| iGMDRD599 | Salermide | 1 |
| iGMDRD144 | NSC95397 | 2 |
| iGMDRD781 | Sirolimus | 2 |
| iGMDRD494 | Neopeltolide | 1 |
| iGMDRD446 | LY 2183240 | 2 |
| iGMDRD61 | Kinetin riboside | 2 |
| iGMDRD193 | Fqi1 | 1 |
| iGMDRD152 | 179324-69-7 | 3 |
| iGMDRD466 | Chaetocin | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in BLM
CLASSFICATION
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