|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:RECQL1
gptkb:RECQ1
RECQ protein-like 1
|
|
gptkbp:associatedWith
|
gptkb:Bloom_syndrome-like_disorder
DNA repair
genomic stability
|
|
gptkbp:discoveredBy
|
Shigeo Seki et al.
|
|
gptkbp:domain
|
gptkb:DEAD/DEAH_box_helicase_domain
RecQ C-terminal domain
|
|
gptkbp:encodes
|
gptkb:ATP-dependent_DNA_helicase_Q1
|
|
gptkbp:Entrez_Gene_ID
|
5965
|
|
gptkbp:expressedIn
|
various human tissues
|
|
gptkbp:firstDescribed
|
1994
|
|
gptkbp:function
|
unwinds DNA during replication and repair
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
9946
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
RECQL
|
|
gptkbp:interactsWith
|
gptkb:RPA
gptkb:PARP1
gptkb:WRN
gptkb:BLM
gptkb:FEN1
gptkb:Topoisomerase_III_alpha
gptkb:RAD51
gptkb:PCNA
|
|
gptkbp:involvedIn
|
homologous recombination
genome maintenance
prevention of chromosomal instability
|
|
gptkbp:length
|
649 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_12
12p12.1
|
|
gptkbp:memberOf
|
gptkb:RecQ_helicase_family
|
|
gptkbp:molecularWeight
|
73 kDa
|
|
gptkbp:mutationAssociatedWith
|
gptkb:cancer
colorectal cancer
osteosarcoma
increased cancer risk
genomic instability syndromes
RECQL deficiency syndrome
|
|
gptkbp:OMIM
|
603780
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Recql
|
|
gptkbp:orthologInYeast
|
SGS1
|
|
gptkbp:regulates
|
DNA double-strand break repair
telomere maintenance
DNA replication fork progression
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
nucleolus
|
|
gptkbp:UniProtID
|
P46063
|
|
gptkbp:bfsParent
|
gptkb:RECQL1
gptkb:RECQL1_(human)
|
|
gptkbp:bfsLayer
|
7
|