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Tchem
BLM
Bloom syndrome protein

Protein Summary
Description
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). The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000355112
  • ENSP00000347232
  • ENSG00000197299

Symbol
  • RECQ2
  • RECQL3
  • BS
  • RECQ2
  • RECQL2
  • RECQL3
  • MGRISCE1
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
biological process
1
molecular function
1
protein domain
1
protein complex
0.93
histone modification site profile
0.91


Related Tools
GENEVA
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GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 133.41   (req: < 5)
Gene RIFs: 172   (req: <= 3)
Antibodies: 434   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 133.41   (req: >= 5)
Gene RIFs: 172   (req: > 3)
Antibodies: 434   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 62
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 4
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Orthologs (10)
1 – 5 of 10
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
Bloom syndrome RecQ like helicase
VGNC:7538
453650
Macaque
Bloom syndrome RecQ like helicase
703460
Mouse
MGI:1328362
12144
Rat
RGD:1308810
308755
Dog
Bloom syndrome RecQ like helicase
100685609
Species
Name
OMA
EggNOG
Inparanoid
Chimp
Bloom syndrome RecQ like helicase
Macaque
Bloom syndrome RecQ like helicase
Mouse
Rat
Dog
Bloom syndrome RecQ like helicase
Protein Structure (12 Structures, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-P54132-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 5 of 12
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (38)
Cell Cycle (R-HSA-1640170)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 30
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Cell Cycle
Reactome
Cell Cycle Checkpoints
Reactome
DNA Double-Strand Break Repair
Reactome
DNA Repair
Reactome
G2/M Checkpoints
Name
Explore in Pharos
Explore in Source
Cell Cycle
Cell Cycle Checkpoints
DNA Double-Strand Break Repair
DNA Repair
G2/M Checkpoints
Gene Ontology Terms (74)
Items per page:
10
1 – 10 of 23
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
BHF-UCL
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
BHF-UCL
Inferred from Direct Assay (IDA)
UniProtKB
Protein-Protein Interactions (317)
1 – 10 of 317
RMI2
Tbio
Novelty: 0.02516878
p_int: 0.999367937
p_ni: 0.000632063
Score: 0.982
Data Source: BioPlex,Reactome,STRINGDB
MECP2
Tchem
Family: TF
Novelty: 0.00051767
p_int: 0.982022764
p_ni: 0.017977236
Score: 0.302
Data Source: BioPlex,STRINGDB
RPS16
Tbio
Novelty: 0.00261983
p_int: 0.978801575
p_ni: 0.021197256
p_wrong: 0.000001169
Data Source: BioPlex
ZNF512
Tbio
Family: TF
Novelty: 0.08783629
p_int: 0.978273267
p_ni: 0.021726733
Score: 0.153
Data Source: BioPlex,STRINGDB
RPS13
Tbio
Novelty: 0.0019983
p_int: 0.951052177
p_ni: 0.048946366
p_wrong: 0.000001457
Data Source: BioPlex
DGKZ
Tbio
Family: Enzyme
Novelty: 0.01312044
p_int: 0.849329792
p_ni: 0.150670029
p_wrong: 1.79e-7
Data Source: BioPlex
MAP7
Tbio
Novelty: 0.01976296
p_int: 0.817209393
p_ni: 0.18243586
p_wrong: 0.000354747
Data Source: BioPlex
FANCM
Tbio
Novelty: 0.01122278
Score: 0.999
Data Source: STRINGDB
RPA3
Tbio
Novelty: 0.00887858
Score: 0.999
Data Source: Reactome,STRINGDB
CENPS
Tbio
Novelty: 0.0085893
Score: 0.999
Data Source: STRINGDB
Publication Statistics
PubMed Score  133.41

PubMed score by year
PubTator Score  102.99

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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