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9401 RECQL4

9401

RECQL4

RecQ like helicase 4

protein-coding

Homo sapiens

基因描述

Type Description
Definition RecQ like helicase 4

研究结论

Date Results Publications
2020-12-26 13:15:00 Pathogenic mutations reveal a role of RECQ4 in mitochondrial RNA:DNA hybrid formation and resolution. 33046774
2020-09-19 16:31:00 Interaction between RECQL4 and OGG1 promotes repair of oxidative base lesion 8-oxoG and is regulated by SIRT1 deacetylase. 32432680
2020-07-25 12:37:00 we analyzed 5562 children with cancer and identified a significant enrichment of heterozygous RECQL4 loss-of-function (LOF) variants in patients with ossteosarcoma. Notably, most children carried the same RECQL4 alteration: c.1573delT (p.Cys525Alafs), which is predicted to truncate the RECQL4 protein within its DNA helicase domain. RECQL4 LOF variants were rarely observed in children with other cancer types 31604778
2020-07-25 10:15:00 Results suggest that recruitment of RecQL4 to replication origins is an important step for temporal activation of replication origins during S phase. Further, perturbation of replication timing control by unscheduled origin activation significantly induces replication stress, which is mostly caused by transcription-replication conflicts. 31519754
2020-02-29 10:09:00 RECQL4 down-regulation in HeLa cells causes chromosome misalignment and delays mitotic progression, and defects in mitotic chromosome alignment might be a contributing factor for the Rothmund-Thomson syndrome. 30718377

名称对应

Type IDs
Synonymous RECQ4
Gene
UniProtKB-ID: RECQ4_HUMAN
UniprotKB: O94761
UniParc: UPI0000E5E124
EMBL: AB006532, BC011602, KF495717, AB026546, AC084125, BC013277, DQ176868
Ensembl: ENSG00000160957
KO: hsa:9401
Nucleutide sequences
EMBL-CDS: BAA86899.1, BAA74453.1, AAH13277.2, AAH11602.2, AAZ85145.1
Ensembl_TRS: ENST00000617875
Protein sequencees
Ensembl_PRO: ENSP00000482313
RefSeq: XP_016869488.1, XP_016869481.1, XP_011515686.1, XP_016869483.1, XP_016869480.1, NP_004251.4, XP_016869489.1, XP_016869486.1, XP_016869490.1, XP_016869484.1, XP_016869482.1, XP_016869487.1, XP_016869485.1
Others
UniRef100: UniRef100_O94761
UniRef90: UniRef90_O94761
UniRef50: UniRef50_O94761
UniGene: Hs.31442
CCDS: CCDS75804.1

全选

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