|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alternativeName
|
gptkb:RTS
gptkb:ATP-dependent_DNA_helicase_Q4
gptkb:RecQ_protein-like_4
|
|
gptkbp:associatedWith
|
gptkb:Rothmund-Thomson_syndrome
gptkb:Baller-Gerold_syndrome
gptkb:RAPADILINO_syndrome
|
|
gptkbp:biologicalProcess
|
DNA replication
double-strand break repair
telomere maintenance
|
|
gptkbp:discoveredBy
|
1998
|
|
gptkbp:encodedBy
|
gptkb:RECQL4_gene
|
|
gptkbp:Entrez_Gene_ID
|
GC08P145073
|
|
gptkbp:enzymeCommissionNumber
|
gptkb:EC_3.6.4.12
|
|
gptkbp:expressedIn
|
various human tissues
|
|
gptkbp:family
|
gptkb:RecQ_helicase_family
|
|
gptkbp:function
|
gptkb:DNA_helicase
DNA repair
genome stability
|
|
gptkbp:gene
|
gptkb:RECQL4
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
9946
|
|
gptkbp:interactsWith
|
gptkb:PARP1
gptkb:WRN
gptkb:BLM
gptkb:p53
|
|
gptkbp:length
|
1208 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:8q24.3
chr8:145,073,000-145,120,000
|
|
gptkbp:molecularWeight
|
133 kDa
|
|
gptkbp:mutationAssociatedWith
|
genomic instability
cancer predisposition
|
|
gptkbp:OMIM
|
603780
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Recql4
|
|
gptkbp:PDB
|
gptkb:6L9T
|
|
gptkbp:RefSeq
|
NP_004252.2
|
|
gptkbp:reviewedBy
|
gptkb:UniProtKB/Swiss-Prot
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
mitochondrion
|
|
gptkbp:UniProtID
|
O94761
|
|
gptkbp:bfsParent
|
gptkb:RecQ_helicase
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
RECQL4 (human)
|