Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:protein
|
| gptkbp:alternativeName |
gptkb:RECQL3
gptkb:BLM_helicase gptkb:RecQ_protein-like_3 |
| gptkbp:associatedWith |
gptkb:Bloom_syndrome
|
| gptkbp:discoveredBy |
gptkb:James_German
|
| gptkbp:encodedBy |
gptkb:BLM_gene
|
| gptkbp:firstDescribed |
1972
|
| gptkbp:function |
DNA repair
DNA helicase activity genome stability maintenance |
| https://www.w3.org/2000/01/rdf-schema#label |
Bloom syndrome protein
|
| gptkbp:interactsWith |
gptkb:RMI1
gptkb:RMI2 gptkb:FANCM gptkb:Topoisomerase_III_alpha gptkb:RAD51 |
| gptkbp:length |
1417 amino acids
|
| gptkbp:locatedIn |
gptkb:nucleus
|
| gptkbp:locatedOnChromosome |
gptkb:15q26.1
|
| gptkbp:memberOf |
gptkb:RecQ_helicase_family
|
| gptkbp:molecularWeight |
159 kDa
|
| gptkbp:mutationAssociatedWith |
increased cancer risk
chromosomal instability |
| gptkbp:OMIM |
604610
|
| gptkbp:UniProtID |
P54132
|
| gptkbp:bfsParent |
gptkb:BLM_gene
|
| gptkbp:bfsLayer |
6
|