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Details on Person UniProt:O88700 Blm
| Class:Id | ReferenceGeneProduct:85999 |
|---|---|
| _chainChangeLog | chain:1-1416 added on Sat February 7 2015 |
| _displayName | UniProt:O88700 Blm |
| _timestamp | 2025-02-21 18:54:37 |
| chain | chain:1-1416 |
| checksum | 447C8110A775DD42 |
| comment | FUNCTION ATP-dependent DNA helicase that unwinds single- and double-stranded DNA in a 3'-5' direction (PubMed:9840919). Participates in DNA replication and repair (By similarity). 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:9840919). Negatively regulates sister chromatid exchange (SCE) (PubMed:27010503, PubMed:9840919). Stimulates DNA 4-way junction branch migration and DNA Holliday junction dissolution. Unwinds G-quadruplex DNA. Binds single-stranded DNA (ssDNA), forked duplex DNA and DNA Holliday junction (By similarity). Recruited by the KHDC3-OOEP scaffold to DNA replication forks where it is retained by TRIM25 ubiquitination, it thereby promotes the restart of stalled replication forks.CATALYTIC ACTIVITY Couples ATP hydrolysis with the unwinding of duplex DNA by translocating in the 3'-5' direction.CATALYTIC ACTIVITY ATP + H2O = ADP + phosphate + H(+)COFACTOR Binds 1 zinc ion per subunit.SUBUNIT Monomer. Homodimer (via N-terminus). Homotetramer (via N-terminus); dimer of dimers. Homohexamer (via N-terminus). Self-association negatively regulates DNA unwinding amplitude and rate. Oligomer complexes dissociate into monomer in presence of ATP. Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBS1 protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts with RMI complex. Interacts directly with RMI1 (via N-terminal region) component of RMI complex. Found in a complex, at least composed of BLM, RAD51 and SPIDR; the complex formation is mediated by SPIDR. Interacts with the KHDC3/FILIA-OOEP/FLOPED scaffold complex and TRIM25 at DNA replication forks (PubMed:29125140). Interacts with ubiquitinated FANCD2 (By similarity). Interacts with SUPV3L1 (By similarity). Interacts with TOP3A (via N-terminal region). Interacts with SPIDR (via C-terminal region); the interaction is direct and required to target BLM to sites of DNA damage.SUBCELLULAR LOCATION Localized to DNA replication forks, especially after DNA damage.TISSUE SPECIFICITY Highly expressed in testis 12-14 days after birth (corresponding to the pachytene phase) and at much lower levels in brain, heart, liver, lung, thymus, kidney and spleen (PubMed:27010503, PubMed:9840919). Expressed in bone marrow (PubMed:27010503).DOMAIN The N-terminal region mediates dimerization and homooligomerization. Both the helicase ATP-binding domain and the helicase C-terminal domain form intramolecular interactions with the HRDC domain in a ATP-dependent manner. The HRDC domain is required for single-stranded DNA (ssDNA) and DNA Holliday junction binding.PTM Poly-ubiquitinated by TRIM25 at Lys-264. Deubiquitinated by USP37; leading to stabilization in order to sustain the DNA damage response (By similarity).PTM Phosphorylated in response to DNA damage. Phosphorylation requires the FANCA-FANCC-FANCE-FANCF-FANCG protein complex, as well as the presence of RMI1 (By similarity).SIMILARITY Belongs to the helicase family. RecQ subfamily. |
| description | recommendedName: RecQ-like DNA helicase BLM ecNumber evidence="10"5.6.2.4 alternativeName: Bloom syndrome protein homolog shortName: mBLM alternativeName: fullName evidence="12"DNA 3'-5' helicase BLM alternativeName: RecQ helicase homolog |
| geneName | Blm |
| identifier | O88700 |
| isSequenceChanged | FALSE |
| keyword | Acetylation ATP-binding DNA damage DNA repair DNA replication DNA-binding Helicase Hydrolase Isomerase Isopeptide bond Metal-binding Nucleotide-binding Nucleus Phosphoprotein Reference proteome Ubl conjugation Zinc |
| modified | [InstanceEdit:143527] Schmidt, EE, 2004-11-12 07:45:10 [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53 [InstanceEdit:354386] Schmidt, EE, 2008-06-18 04:45:12 [InstanceEdit:384350] Kanapin, AA, 2008-11-26 14:00:39 [InstanceEdit:392885] Kanapin, AA, 2009-03-09 12:07:18 [InstanceEdit:400710] Schmidt, EE, 2009-03-25 05:33:35 [InstanceEdit:423310] Kanapin, AA [InstanceEdit:435478] Kanapin, AA [InstanceEdit:435871] Kanapin, AA [InstanceEdit:447347] Kanapin, AA [InstanceEdit:525883] Kanapin, AA [InstanceEdit:613449] Kanapin, AA [InstanceEdit:797602] Kanapin, AA [InstanceEdit:937368] Yung, CK [InstanceEdit:1042053] Yung, CK [InstanceEdit:1220657] Yung, CK [InstanceEdit:1300696] Yung, CK [InstanceEdit:1301627] Yung, CK [InstanceEdit:1551960] Weiser, JD [InstanceEdit:1995863] Weiser, JD [InstanceEdit:2132304] Weiser, JD [InstanceEdit:2265580] Weiser, JD [InstanceEdit:2587579] Weiser, JD [InstanceEdit:5083144] Weiser, JD [InstanceEdit:5433710] Weiser, JD [InstanceEdit:5618415] Weiser, JD [InstanceEdit:5634237] Weiser, JD [InstanceEdit:5673015] Weiser, JD [InstanceEdit:8869714] Weiser, JD [InstanceEdit:9027688] Weiser, JD [InstanceEdit:9037114] Weiser, JD [InstanceEdit:9637257] Weiser, JD [InstanceEdit:9657908] Weiser, JD [InstanceEdit:9676415] Weiser, JD [InstanceEdit:9715482] Weiser, JD [InstanceEdit:9730071] Weiser, JD [InstanceEdit:9796772] Weiser, Joel [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9862192] Weiser, Joel, 2024-02-26 [InstanceEdit:9909836] Weiser, Joel, 2024-05-14 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 |
| name | Blm |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| secondaryIdentifier | BLM_MOUSE O88198 |
| sequenceLength | 1416 |
| species | [Species:48892] Mus musculus |
| (referenceEntity) | [EntityWithAccessionedSequence:912465] Bloom syndrome protein homolog [nucleoplasm] [Mus musculus] |
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No pathways have been reviewed or authored by UniProt:O88700 Blm (85999)
