|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:RECQ3
Werner syndrome helicase
|
|
gptkbp:associatedWith
|
gptkb:Werner_syndrome
premature aging
cancer predisposition
genomic instability syndromes
|
|
gptkbp:chromosomeArm
|
gptkb:8p12
|
|
gptkbp:clinicalTrialPhase
|
yes
|
|
gptkbp:discoveredBy
|
Yoshio Masaki
|
|
gptkbp:discoveredIn
|
1996
|
|
gptkbp:encodes
|
gptkb:WRN_protein
|
|
gptkbp:Entrez_Gene_ID
|
7486
ENSG00000165392
|
|
gptkbp:expressedIn
|
gptkb:nucleus
|
|
gptkbp:fullName
|
Werner syndrome RecQ like helicase
|
|
gptkbp:function
|
DNA helicase activity
exonuclease activity
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasPseudogene
|
no
|
|
gptkbp:HGNC_ID
|
12791
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
WRN gene
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:interactsWith
|
gptkb:RPA
gptkb:BLM
gptkb:FEN1
gptkb:TP53
gptkb:DNA_polymerase_delta
Ku70/80
|
|
gptkbp:involvedIn
|
DNA repair
genomic stability
|
|
gptkbp:length
|
1432 amino acids (protein product)
|
|
gptkbp:lengthOfGenomicSequence
|
143 kb
|
|
gptkbp:locatedOnChromosome
|
8
|
|
gptkbp:location
|
nuclear matrix
|
|
gptkbp:mutationAssociatedWith
|
gptkb:Werner_syndrome
loss-of-function
|
|
gptkbp:numberOfExons
|
35
|
|
gptkbp:OMIM
|
604611
|
|
gptkbp:orthologInMouse
|
Wrn
|
|
gptkbp:orthologInYeast
|
SGS1
|
|
gptkbp:pathway
|
DNA replication
base excision repair
telomere maintenance
|
|
gptkbp:proteinFamily
|
gptkb:RecQ_helicase_family
|
|
gptkbp:regulates
|
phosphorylation
ubiquitination
acetylation
|
|
gptkbp:UniProtID
|
gptkb:Q14191
|
|
gptkbp:bfsParent
|
gptkb:Werner_syndrome
|
|
gptkbp:bfsLayer
|
7
|