| Gene |
BLM
|
| Protein Name |
BLM_HUMAN |
| Organism |
Homo sapiens (Human) |
| Alternative name(s) |
Bloom syndrome protein (EC 3.6.4.12) (DNA helicase, RecQ-like type 2) (RecQ2) (RecQ protein-like 3) |
| Protein Family |
Helicase family |
| NCBI Gene ID |
641
|
| UniProt ID |
P54132
|
| Enzyme Class |
3.6.4.12 |
| Molecular Weight |
159000 |
| Protein Length |
1417 |
| Protein Domain |
InterPro |
Pfam
|
| 3D Structure |
PDBe |
PDBj |
RCSB PDB |
DrugPort
ModBase |
SwissModel
|
| Gene Expression |
Gene Expression Atlas
|
| Function and Disease |
OMIM |
| Protein-protein Interaction Database |
STRING |
IntAct |
MINT
|
| Kinase Database |
Phospho.ELM
|
PhosphoSite
| NetworKIN
|
| Catalytic Activity (UniProt annotation) |
ATP + H(2)O = ADP + phosphate. |
| Localization |
Nucleus 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. |
| Function (UniProt annotation) |
ATP-dependent DNA helicase that unwinds single- and double-stranded DNA in a 3'-5' direction (PubMed:9388193, PubMed:24816114, PubMed:25901030). Participates in DNA replication and repair (PubMed:12019152, PubMed:21325134, PubMed:23509288). 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 (PubMed:21325134). Negatively regulates sister chromatid exchange (SCE) (PubMed:25901030). Stimulates DNA 4-way junction branch migration and DNA Holliday junction dissolution (PubMed:25901030). Binds single-stranded DNA (ssDNA), forked duplex DNA and DNA Holliday junction (PubMed:20639533, PubMed:24257077, PubMed:25901030). |
| Gene Ontology |
GO:0000079; GO:0000228; GO:0000400; GO:0000403; GO:0000405; GO:0000712; GO:0000724; GO:0000729; GO:0000731; GO:0000732; GO:0000800; GO:0002039; GO:0003677; GO:0003678; GO:0003697; GO:0004003; GO:0004386; GO:0005524; GO:0005634; GO:0005654; GO:0005657; GO:0005694; GO:0005730; GO:0005737; GO:0005829; GO:0006260; GO:0006281; GO:0006303; GO:0006310; GO:0006974; GO:0007095; GO:0008026; GO:0008094; GO:0008270; GO:0009378; GO:0010165; GO:0010705; GO:0016363; GO:0016605; GO:0016887; GO:0031297; GO:0032508; GO:0036310; GO:0042803; GO:0043066; GO:0043140; GO:0044806; GO:0045003; GO:0045120; GO:0045893; GO:0045910; GO:0045950; GO:0046632; GO:0046641; GO:0048478; GO:0051259; GO:0051260; GO:0051307; GO:0051782; GO:0051880; GO:0061749; GO:0061820; GO:0061821; GO:0061849; GO:0070244; GO:0071139; GO:0071479; GO:0072711; GO:0072757; GO:0090329; GO:0090656; GO:1901291; GO:1905168; GO:1905773 |
