Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:RTS
gptkb:DNA_helicase_Q4 gptkb:RecQ_protein-like_4 |
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:Rothmund-Thomson_syndrome
gptkb:Baller-Gerold_syndrome gptkb:Rapadilino_syndrome |
| gptkbp:encodes |
gptkb:ATP-dependent_DNA_helicase_Q4
|
| gptkbp:Entrez_Gene_ID |
9401
ENSG00000160957 |
| gptkbp:expressedIn |
gptkb:nucleus
|
| gptkbp:function |
DNA repair
genomic stability |
| gptkbp:HGNC_ID |
9946
|
| https://www.w3.org/2000/01/rdf-schema#label |
RECQL4
|
| gptkbp:length |
1208 amino acids
|
| gptkbp:locatedOnChromosome |
gptkb:8q24.3
|
| gptkbp:memberOf |
gptkb:RecQ_helicase_family
|
| gptkbp:mutationAssociatedWith |
increased cancer risk
|
| gptkbp:OMIM |
603780
|
| gptkbp:orthologInMouse |
gptkb:Recql4
|
| gptkbp:UniProtID |
O94761
|
| gptkbp:bfsParent |
gptkb:RecQ_helicase
|
| gptkbp:bfsLayer |
6
|