AlphaFold predicted structure
BLM · P54132
Mean pLDDT
60.5/ 100
Low
1,417 residues
Confidence breakdown
- Very high(≥ 90)30%
- Confident(70–90)17%
- Low(50–70)3%
- Very low(< 50)51%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
BLM
Chr 15q26.1BLM RecQ like helicase
- Aliases:
- BS, RECQL3, RECQ2
- MANE:
- ENST00000355112.8
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Childhood solid tumours
BIALLELIC, autosomal or pseudoautosomalChildhood solid tumours cancer susceptibility
BIALLELIC, autosomal or pseudoautosomalConfirmed Fanconi anaemia or Bloom syndrome
BIALLELIC, autosomal or pseudoautosomalCOVID-19 research
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalHaematological malignancies cancer susceptibility
BIALLELIC, autosomal or pseudoautosomalHaematological malignancies for rare disease
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
Bloom syndrome
0.85Inherited cancer-predisposing syndrome
0.58hereditary neoplastic syndrome
0.57cancer
0.55colorectal cancer
0.51leukemia
0.46lymphoma
0.46Immunodeficiency
0.46immune system disorder
0.46immunodeficiency disease
0.46
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
RecQ-like DNA helicase BLM
ATP-dependent DNA helicase that unwinds double-stranded (ds)DNA in a 3'-5' direction (PubMed:24816114, PubMed:25901030, PubMed:9388193, PubMed:9765292). Participates in DNA replication and repair (PubMed:12019152, PubMed:21325134, PubMed:23509288, PubMed:34606619). 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). Stimulates DNA 4-way junction branch migration and DNA Holliday junction dissolution (PubMed:25901030). Binds single-stranded DNA (ssDNA), forked duplex DNA and Holliday junction DNA (PubMed:20639533, PubMed:24257077, PubMed:25901030). Unwinds G-quadruplex DNA; unwinding occurs in the 3'-5' direction and requires a 3' single-stranded end of at least 7 nucleotides (PubMed:18426915, PubMed:9765292). Helicase activity is higher on G-quadruplex substrates than on duplex DNA substrates (PubMed:9765292). Telomeres, immunoglobulin heavy chain switch regions and rDNA are notably G-rich; formation of G-quadruplex DNA would block DNA replication and transcription (PubMed:18426915, PubMed:9765292). Negatively regulates sister chromatid exchange (SCE) (PubMed:25901030). Recruited by the KHDC3L-OOEP scaffold to DNA replication forks where it is retained by TRIM25 ubiquitination, it thereby promotes the restart of stalled replication forks (By similarity)
Diseases associated with BLM
Curated MONDO disease pages that list BLM among their top associated genes.