| Gene Information | |
|---|---|
| Gene Name | BLM |
| Organism | Homo sapiens (Human) |
| Gene Length | 1417 |
| Protein Names | RecQ-like DNA helicase BLM (EC 3.6.4.12) (Bloom syndrome protein) (DNA helicase, RecQ-like type 2) (RecQ2) (RecQ protein-like 3) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | >4290 ( ENSG00000197299 ) |
| Evolutionary Stage | Cellular_organisms |
| AlphaFoldDB | P54132 |
| Gene Card | BLM |
| Uniprot ID | P54132 |
| Pfam | PF08072; PF16204; PF16202; PF00270; PF00271; PF00570; PF16124; PF09382 |
| In ASD | yes |
| Allosteric Prediction | yes (1.000265035) |
| Ortholog in Animals | Alpaca_ BLM ( ortholog_one2one ) Dog_ BLM ( ortholog_one2one ) GuineaPig_ BLM ( ortholog_one2one ) Macaque_ BLM ( ortholog_one2one ) Mouse_ Blm ( ortholog_one2one ) Pig_ BLM ( ortholog_one2one ) Rat_ Blm ( ortholog_one2one ) Rabbit_ BLM ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | WRN, RECQL5, RECQL4, RECQL |
| Tissue | salivary.gland |
| Tissue Specificity | NA |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.034849(Rat);0.078351(Rabbit) |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | 2KV2 (NMR - ) 2MH9 (NMR - ) 2RRD (NMR - ) 3WE2 (X-ray 2.70A ) 3WE3 (X-ray 2.90A ) 4CDG (X-ray 2.79A ) 4CGZ (X-ray 3.20A ) 4O3M (X-ray 2.30A ) 5LUP (X-ray 2.03A ) 5MK5 (X-ray 2.16A ) 5U6K (X-ray 2.60A ) 7AUC (X-ray 1.53A ) 7AUD (X-ray 2.96A ) |
| DBSNP | rs28384988 rs28384991 rs28385012 rs747281324 rs767086502 rs137853152 rs2227935 rs763471784 rs758311406 rs137853153 rs2229035 rs367543029 rs28385141 rs1801256 rs28385142 rs7167216 |
| Subcellular location [CC] | Nucleus {ECO:0000269|PubMed:23509288}. Note=Together with SPIDR, is redistributed in discrete nuclear DNA damage-induced foci following hydroxyurea (HU) or camptothecin (CPT) treatment. Accumulated at sites of DNA damage in a RMI complex- and SPIDR-dependent manner. |
| Mouse PG classification | LPG |
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