Bloom syndrome RecQ like helicase
GPTKB entity
Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:protein
|
| gptkbp:alternativeName |
gptkb:Bloom_syndrome_protein
gptkb:DNA_helicase,_RecQ-like_type_3 gptkb:RecQ_protein-like_3 |
| gptkbp:associatedWith |
gptkb:Bloom_syndrome
|
| gptkbp:enzymeCommissionNumber |
3.6.4.12
|
| gptkbp:function |
DNA repair
DNA helicase activity genome stability maintenance |
| gptkbp:gene |
gptkb:BLM
|
| https://www.w3.org/2000/01/rdf-schema#label |
Bloom syndrome RecQ like helicase
|
| gptkbp:interactsWith |
gptkb:RMI1
gptkb:RMI2 gptkb:TOP3A gptkb:FANCM gptkb:RAD51 |
| gptkbp:locatedIn |
gptkb:nucleus
|
| gptkbp:locatedOnChromosome |
gptkb:15q26.1
|
| gptkbp:molecularWeight |
159 kDa
|
| gptkbp:mutationAssociatedWith |
immunodeficiency
increased cancer risk chromosomal instability growth deficiency |
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:UniProtID |
P54132
|
| gptkbp:bfsParent |
gptkb:BLM_gene
|
| gptkbp:bfsLayer |
6
|