Property Summary

NCBI Gene PubMed Count 75
PubMed Score 0.00
PubTator Score 135.36

Knowledge Summary

Patent

No data available

Synonym

Accession O94761 Q3Y424 Q96DW2 Q96F55
Symbols RECQ4

Gene

PDB

2KMU  

Pathway (1)

Gene RIF (59)

PMID Text
26690729 RECQL4 is tumour promoting in established breast cancers
25602958 RecQL4-dependent association of Mcm10 and Ctf4 with replication origins appears to be the first important step controlled by S phase promoting kinases and checkpoint pathways for the initiation of DNA replication in human cells.
25336622 The N-terminus of human RecQL4 acts as a complex moderator of DNA transactions that are mediated by multiple DNA-binding sites.
24942867 RECQL4 stimulates higher order DNA binding of Ku70/Ku80 to a blunt end DNA substrate. Taken together, these results implicate that RECQL4 participates in the NHEJ pathway of DSB repair via a functional interaction with the Ku70/Ku80 complex.
24924172 Elevated expression of RECQL4 accompanies progression of the Rothmund-Thomson Syndrome into osteosarcoma in humans and mice.
24832598 Dysfunction of RECQL4 increases DNA damage and triggers premature senescence in both human and mouse cells, which may contribute to symptoms in Rothmund-Thompson syndrome patients.
24746816 The highly cancer-prone RECQ4 ID mutant failed to interact with p32, leading to increases in mtDNA copy number and MT dysfunction.
24635570 No RECQL4 mutations were found in the BGS group without poikiloderma, confirming that RECQL4 sequencing was not indicated in this phenotype.
24518840 This finding provided the key to unravel the correlation between the RECQL4 genotype and the mild phenotype of the two siblings of Rothmund-Thomson Syndrome.
24072219 In vitro studies showed that defects in RECQL4 impair homologous recombination, sensitizing BC cells to DNA-damaging agents.
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AA Sequence

MERLRDVRERLQAWERAFRRQRGRRPSQDDVEAAPEETRALYREYRTLKRTTGQAGGGLRSSESLPAAAE      1 - 70
EAPEPRCWGPHLNRAATKSPQPTPGRSRQGSVPDYGQRLKANLKGTLQAGPALGRRPWPLGRASSKASTP     71 - 140
KPPGTGPVPSFAEKVSDEPPQLPEPQPRPGRLQHLQASLSQRLGSLDPGWLQRCHSEVPDFLGAPKACRP    141 - 210
DLGSEESQLLIPGESAVLGPGAGSQGPEASAFQEVSIRVGSPQPSSSGGEKRRWNEEPWESPAQVQQESS    211 - 280
QAGPPSEGAGAVAVEEDPPGEPVQAQPPQPCSSPSNPRYHGLSPSSQARAGKAEGTAPLHIFPRLARHDR    281 - 350
GNYVRLNMKQKHYVRGRALRSRLLRKQAWKQKWRKKGECFGGGGATVTTKESCFLNEQFDHWAAQCPRPA    351 - 420
SEEDTDAVGPEPLVPSPQPVPEVPSLDPTVLPLYSLGPSGQLAETPAEVFQALEQLGHQAFRPGQERAVM    421 - 490
RILSGISTLLVLPTGAGKSLCYQLPALLYSRRSPCLTLVVSPLLSLMDDQVSGLPPCLKAACIHSGMTRK    491 - 560
QRESVLQKIRAAQVHVLMLTPEALVGAGGLPPAAQLPPVAFACIDEAHCLSQWSHNFRPCYLRVCKVLRE    561 - 630
RMGVHCFLGLTATATRRTASDVAQHLAVAEEPDLHGPAPVPTNLHLSVSMDRDTDQALLTLLQGKRFQNL    631 - 700
DSIIIYCNRREDTERIAALLRTCLHAAWVPGSGGRAPKTTAEAYHAGMCSRERRRVQRAFMQGQLRVVVA    701 - 770
TVAFGMGLDRPDVRAVLHLGLPPSFESYVQAVGRAGRDGQPAHCHLFLQPQGEDLRELRRHVHADSTDFL    771 - 840
AVKRLVQRVFPACTCTCTRPPSEQEGAVGGERPVPKYPPQEAEQLSHQAAPGPRRVCMGHERALPIQLTV    841 - 910
QALDMPEEAIETLLCYLELHPHHWLELLATTYTHCRLNCPGGPAQLQALAHRCPPLAVCLAQQLPEDPGQ    911 - 980
GSSSVEFDMVKLVDSMGWELASVRRALCQLQWDHEPRTGVRRGTGVLVEFSELAFHLRSPGDLTAEEKDQ    981 - 1050
ICDFLYGRVQARERQALARLRRTFQAFHSVAFPSCGPCLEQQDEERSTRLKDLLGRYFEEEEGQEPGGME   1051 - 1120
DAQGPEPGQARLQDWEDQVRCDIRQFLSLRPEEKFSSRAVARIFHGIGSPCYPAQVYGQDRRFWRKYLHL   1121 - 1190
SFHALVGLATEELLQVAR                                                       1191 - 1208
//

Text Mined References (74)

PMID Year Title
26690729 2016 RECQL4 helicase has oncogenic potential in sporadic breast cancers.
25602958 2015 RecQL4 is required for the association of Mcm10 and Ctf4 with replication origins in human cells.
25336622 2014 The intrinsically disordered amino-terminal region of human RecQL4: multiple DNA-binding domains confer annealing, strand exchange and G4 DNA binding.
25201988 2014 Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
24942867 2014 RECQ helicase RECQL4 participates in non-homologous end joining and interacts with the Ku complex.
24924172 2014 RECQ DNA helicases and osteosarcoma.
24832598 2014 Senescence induced by RECQL4 dysfunction contributes to Rothmund-Thomson syndrome features in mice.
24746816 2014 Impaired p32 regulation caused by the lymphoma-prone RECQ4 mutation drives mitochondrial dysfunction.
24635570 2015 Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.
24518840 2014 Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype.
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