| URN | urn:agi-llid:641 |
|---|---|
| Total Entities | 0 |
| Connectivity | 69 |
| Name | Blm |
| Description | Bloom syndrome, RecQ helicase-like |
| Notes | 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] |
| Ariadne Ontology | DNA replication |
|---|---|
| DNA recombination | |
| DNA repair |
| GO Molecular Function | catalytic activity |
|---|---|
| p53 binding | |
| nucleotide binding | |
| ATP binding | |
| nucleic acid binding | |
| DNA binding | |
| G-quadruplex DNA binding | |
| single-stranded DNA binding | |
| bubble DNA binding | |
| hydrolase activity | |
| hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides | |
| ATPase activity | |
| helicase activity | |
| ATP-dependent helicase activity | |
| ATP-dependent DNA helicase activity | |
| ATP-dependent 3'-5' DNA helicase activity | |
| four-way junction helicase activity |
| GO Cellular Component | nucleoplasm |
|---|---|
| nuclear matrix | |
| nucleolus | |
| PML body | |
| lateral element | |
| chromosome, telomeric region | |
| replication fork | |
| intracellular | |
| cytoplasm | |
| nucleus | |
| pronucleus | |
| male germ cell nucleus |
| GO Biological Process | cellular metabolic process |
|---|---|
| G2-M transition DNA damage checkpoint | |
| G2 phase of mitotic cell cycle | |
| regulation of cyclin-dependent protein kinase activity | |
| positive regulation of transcription, DNA-dependent | |
| replication fork protection | |
| negative regulation of DNA recombination | |
| negative regulation of mitotic recombination | |
| negative regulation of cell division | |
| positive regulation of alpha-beta T cell proliferation | |
| alpha-beta T cell differentiation | |
| ATP catabolic process | |
| DNA double-strand break processing | |
| DNA repair | |
| DNA recombination | |
| telomere maintenance | |
| DNA replication | |
| double-strand break repair via homologous recombination | |
| replication fork processing | |
| response to DNA damage stimulus | |
| chromosome organization | |
| response to X-ray | |
| protein oligomerization | |
| regulation of binding |
| Pathway | homologous recombination pathway of double-strand break repair |
|---|
| Group | DNA replication |
|---|---|
| DNA recombination | |
| DNA repair | |
| cellular metabolic process | |
| G2-M transition DNA damage checkpoint | |
| G2 phase of mitotic cell cycle | |
| regulation of cyclin-dependent protein kinase activity | |
| positive regulation of transcription, DNA-dependent | |
| replication fork protection | |
| negative regulation of DNA recombination | |
| negative regulation of mitotic recombination | |
| negative regulation of cell division | |
| positive regulation of alpha-beta T cell proliferation | |
| alpha-beta T cell differentiation | |
| ATP catabolic process | |
| DNA double-strand break processing | |
| DNA repair | |
| DNA recombination | |
| telomere maintenance | |
| DNA replication | |
| double-strand break repair via homologous recombination | |
| replication fork processing | |
| response to DNA damage stimulus | |
| chromosome organization | |
| response to X-ray | |
| protein oligomerization | |
| regulation of binding | |
| catalytic activity | |
| p53 binding | |
| nucleotide binding | |
| ATP binding | |
| nucleic acid binding | |
| DNA binding | |
| G-quadruplex DNA binding | |
| single-stranded DNA binding | |
| bubble DNA binding | |
| hydrolase activity | |
| hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides | |
| ATPase activity | |
| helicase activity | |
| ATP-dependent helicase activity | |
| ATP-dependent DNA helicase activity | |
| ATP-dependent 3'-5' DNA helicase activity | |
| four-way junction helicase activity | |
| nucleoplasm | |
| nuclear matrix | |
| nucleolus | |
| PML body | |
| lateral element | |
| chromosome, telomeric region | |
| replication fork | |
| intracellular | |
| cytoplasm | |
| nucleus | |
| pronucleus | |
| male germ cell nucleus |
| MedScan ID | 641 |
|---|
| Hugo ID | 1058 |
|---|
| Human chromosome position | 15q26.1 |
|---|
| LocusLink ID | 641 |
|---|---|
| 12144 | |
| 308755 |
| Alias | BS |
|---|---|
| RECQ2 | |
| RECQL2 | |
| RECQL3 | |
| Bloom syndrome protein | |
| recQ protein-like 3 | |
| DNA helicase, RecQ-like type 2 | |
| Bloom syndrome protein homolog | |
| mBLM | |
| recQ helicase homolog | |
| Bloom syndrome homolog | |
| Bloom syndrome, RecQ helicase-like | |
| MGC131618 | |
| RecQ protein-like III | |
| MGC131620 | |
| MGC126616 | |
| DNA helicase, RecQ- like, type II | |
| Bloom syndrome gene | |
| Bloom syndrome homolog (human) | |
| Bloom's syndrome protein | |
| DNA helicase, RecQ- like, type 2 | |
| Blm |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 604610 |
|---|---|
| 210900 |
| Unigene ID | Hs.725208 |
|---|---|
| Mm.12932 |
| KEGG ID | hsa:641 |
|---|---|
| mmu:12144 |
| Swiss-Prot Accession | P54132 |
|---|---|
| O88700 | |
| E9PZ97 | |
| D3ZQW1 | |
| Q52M96 | |
| O88198 |
| EC Number | 3.6.4.12 |
|---|
| GO ID | 0005524 |
|---|---|
| 0043140 | |
| 0004003 | |
| 0008026 | |
| 0016887 | |
| 0051880 | |
| 0000405 | |
| 0009378 | |
| 0004386 | |
| 0002039 | |
| 0003697 | |
| 0006200 | |
| 0000729 | |
| 0006310 | |
| 0006281 | |
| 0000085 | |
| 0031572 | |
| 0046632 | |
| 0000724 | |
| 0045910 | |
| 0051782 | |
| 0045950 | |
| 0046641 | |
| 0045893 | |
| 0051259 | |
| 0051098 | |
| 0000079 | |
| 0031297 | |
| 0048478 | |
| 0006974 | |
| 0010165 | |
| 0000723 | |
| 0016605 | |
| 0000781 | |
| 0005737 | |
| 0000800 | |
| 0001673 | |
| 0016363 | |
| 0005730 | |
| 0005634 | |
| 0045120 | |
| 0005657 | |
| 0003677 | |
| 0003824 | |
| 0016787 | |
| 0016818 | |
| 0003676 | |
| 0000166 | |
| 0006260 | |
| 0044237 | |
| 0051276 | |
| 0005622 | |
| 0005654 |
| PIR ID | A57570 |
|---|
| Swiss-Prot ID | BLM_HUMAN |
|---|---|
| BLM_MOUSE |
| Cell Localization | Nucleus |
|---|
| IPI ID | IPI00004859 |
|---|---|
| IPI00329943 |
| Mouse chromosome position | 7 40.0 cM |
|---|
| Rat chromosome position | 1q31 |
|---|
| Homologene ID | 47902 |
|---|
| MGI ID | 1328362 |
|---|
| RGD ID | 1308810 |
|---|
| Primary Cell Localization | Nucleus |
|---|