Details for: RECQL4
Associated with
Other Information
Genular Protein ID: 2282953028
Symbol: RECQ4_HUMAN
Name: ATP-dependent DNA helicase Q4
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 9878247
Title: Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes.
PubMed ID: 9878247
PubMed ID: 10552928
Title: Rothmund-Thomson syndrome responsible gene, RECQL4: genomic structure and products.
PubMed ID: 10552928
PubMed ID: 16421571
Title: DNA sequence and analysis of human chromosome 8.
PubMed ID: 16421571
DOI: 10.1038/nature04406
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 10319867
Title: Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome.
PubMed ID: 10319867
DOI: 10.1038/8788
PubMed ID: 11032027
Title: Differential regulation of human RecQ family helicases in cell transformation and cell cycle.
PubMed ID: 11032027
PubMed ID: 10678659
Title: Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome.
PubMed ID: 10678659
DOI: 10.1002/(sici)1096-8628(20000131)90:3<223::aid-ajmg7>3.0.co;2-z
PubMed ID: 12952869
Title: Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases.
PubMed ID: 12952869
DOI: 10.1093/hmg/ddg306
PubMed ID: 15317757
Title: RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway.
PubMed ID: 15317757
DOI: 10.1093/hmg/ddh269
PubMed ID: 19696745
Title: MCM10 mediates RECQ4 association with MCM2-7 helicase complex during DNA replication.
PubMed ID: 19696745
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
DOI: 10.1021/pr300630k
PubMed ID: 12601557
Title: Identification of two novel RECQL4exonic SNPs and genomic characterization of the IVS12 minisatellite.
PubMed ID: 12601557
PubMed ID: 12734318
Title: Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.
PubMed ID: 12734318
PubMed ID: 15221963
Title: Mutation analysis of the RECQL4 gene in sporadic osteosarcomas.
PubMed ID: 15221963
DOI: 10.1002/ijc.20269
PubMed ID: 15964893
Title: Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.
PubMed ID: 15964893
PubMed ID: 20503338
Title: Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: Case report and literature review.
PubMed ID: 20503338
DOI: 10.1002/ajmg.a.33427
Sequence Information:
- Length: 1208
- Mass: 133067
- Checksum: 7634BC134AD7FB4D
- Sequence:
MERLRDVRER LQAWERAFRR QRGRRPSQDD VEAAPEETRA LYREYRTLKR TTGQAGGGLR SSESLPAAAE EAPEPRCWGP HLNRAATKSP QSTPGRSRQG SVPDYGQRLK ANLKGTLQAG PALGRRPWPL GRASSKASTP KPPGTGPVPS FAEKVSDEPP QLPEPQPRPG RLQHLQASLS QRLGSLDPGW LQRCHSEVPD FLGAPKACRP DLGSEESQLL IPGESAVLGP GAGSQGPEAS AFQEVSIRVG SPQPSSSGGE KRRWNEEPWE SPAQVQQESS QAGPPSEGAG AVAVEEDPPG EPVQAQPPQP CSSPSNPRYH GLSPSSQARA GKAEGTAPLH IFPRLARHDR GNYVRLNMKQ KHYVRGRALR SRLLRKQAWK QKWRKKGECF GGGGATVTTK ESCFLNEQFD HWAAQCPRPA SEEDTDAVGP EPLVPSPQPV PEVPSLDPTV LPLYSLGPSG QLAETPAEVF QALEQLGHQA FRPGQERAVM RILSGISTLL VLPTGAGKSL CYQLPALLYS RRSPCLTLVV SPLLSLMDDQ VSGLPPCLKA ACIHSGMTRK QRESVLQKIR AAQVHVLMLT PEALVGAGGL PPAAQLPPVA FACIDEAHCL SQWSHNFRPC YLRVCKVLRE RMGVHCFLGL TATATRRTAS DVAQHLAVAE EPDLHGPAPV PTNLHLSVSM DRDTDQALLT LLQGKRFQNL DSIIIYCNRR EDTERIAALL RTCLHAAWVP GSGGRAPKTT AEAYHAGMCS RERRRVQRAF MQGQLRVVVA TVAFGMGLDR PDVRAVLHLG LPPSFESYVQ AVGRAGRDGQ PAHCHLFLQP QGEDLRELRR HVHADSTDFL AVKRLVQRVF PACTCTCTRP PSEQEGAVGG ERPVPKYPPQ EAEQLSHQAA PGPRRVCMGH ERALPIQLTV QALDMPEEAI ETLLCYLELH PHHWLELLAT TYTHCRLNCP GGPAQLQALA HRCPPLAVCL AQQLPEDPGQ GSSSVEFDMV KLVDSMGWEL ASVRRALCQL QWDHEPRTGV RRGTGVLVEF SELAFHLRSP GDLTAEEKDQ ICDFLYGRVQ ARERQALARL RRTFQAFHSV AFPSCGPCLE QQDEERSTRL KDLLGRYFEE EEGQEPGGME DAQGPEPGQA RLQDWEDQVR CDIRQFLSLR PEEKFSSRAV ARIFHGIGSP CYPAQVYGQD RRFWRKYLHL SFHALVGLAT EELLQVAR
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.