| Gene Symbol | BLM |
|---|---|
| Entrez Gene | 641 |
| Alt Symbol | BS, RECQ2, RECQL2, RECQL3 |
| Species | Human |
| Gene Type | protein-coding |
| Description | Bloom syndrome, RecQ helicase-like |
| Other Description | Bloom syndrome protein|DNA helicase, RecQ-like type 2|recQ protein-like 3 |
| Swissprots | P54132 Q52M96 |
| Accessions | AAW62255 EAX02107 EAX02108 P54132 AK295194 BAH12008 AK303159 BAH13907 AK314262 BAG36927 BC034480 BC062697 BC093622 AAH93622 BC101567 AAI01568 BC107423 AAI07424 BC115028 BC115029 BC115030 AAI15031 BC115031 BC115032 AAI15033 BC143280 AAI43281 BC143288 BP363946 CD707743 DA122319 DB520927 U39817 AAA87850 XM_006720632 XP_006720695 XM_011521881 XP_011520183 XM_011521882 XP_011520184 NM_000057 NP_000048 NM_001287246 NP_001274175 NM_001287247 NP_001274176 NM_001287248 NP_001274177 |
| Function | Participates in DNA replication and repair. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3'-5' direction. Involved in 5'-end resection of DNA during double-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNA. Negatively regulates sister chromatid exchange (SCE). {ECO:0000269|PubMed:12019152, ECO:0000269|PubMed:21325134, ECO:0000269|PubMed:23509288, ECO:0000269|PubMed:9388193}. |
| Subcellular Location | 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. |
| Top Pathways | Homologous recombination, Fanconi anemia pathway |