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RECQL4 (RecQ protein-like 4

Identity

Other namesRecQ4
RTS
RecQ protein like 4
ATP-dependent DNA helicase Q4
HGNC (Hugo) RECQL4
LocusID (NCBI) 9401
Location 8q24.3
Location_base_pair Starts at 145736667 and ends at 145743210 bp from pter ( according to hg19-Feb_2009)  [Mapping]

DNA/RNA

 
Description Spans 6,46 kb; 21 exons; helicase domain is encoded by exons from 8 to 14
Transcription 3,62 kb mRNA

Protein

 
Description 1208 aa; 13,3 kDa; belongs to the RecQ subfamily of helicases and contains from aa 476 to 824 an helicase domain with a potential ATP binding site from aa 502 to 509, and the DEAH box from aa 605 to 608
Expression The RecQ4 gene is predominantly expressed in thymus and testis and at low levels in other organs such as heart, brain, placenta, pancreas, small intestine, and colon, indicating that the expression of RecQ4 gene is somewhat tissue-specific. The overall expression profile resembles that of the BLM gene. Interestingly, the expression of RecQ4 gene is partially upregulated in the G1/S phase of cell cycle.
Localisation nuclear
Function suppresses promiscuous genetic recombination and ensures accurate chromosome segregation.
Homology WRN/RECQ3, BLM/RECQ2

Mutations

Germinal See diagram of loss-of-function mutations in Rothmund-Thomson Syndrome patients

Implicated in

Entity Rothmund-Thomson Syndrome
Disease Autosomal recessive disorder associated with genomic instability, cancer predisposition and premature ageing.
  

External links

Nomenclature
HGNC (Hugo)RECQL4   9949
Cards
AtlasRECQL4ID285
Entrez_Gene (NCBI)RECQL4  9401  RecQ protein-like 4
GeneCards (Weizmann)RECQL4
Ensembl (Hinxton)ENSG00000160957 [Gene_View]  chr8:145736667-145743210 [Contig_View]  RECQL4 [Vega]
AceView (NCBI)RECQL4
Genatlas (Paris)RECQL4
WikiGenes9401
SOURCE (Princeton)NM_004260
Genomic and cartography
GoldenPath (UCSC)RECQL4  -  8q24.3   chr8:145736667-145743210 -  8q24.3   [Description]    (hg19-Feb_2009)
EnsemblRECQL4 - 8q24.3 [CytoView]
Mapping of homologs : NCBIRECQL4 [Mapview]
OMIM218600   266280   268400   603780   
Gene and transcription
Genbank (Entrez)AB006532 BC011602 BC013277 BC020496 CN286057
RefSeq transcript (Entrez)NM_004260
RefSeq genomic (Entrez)AC_000140 NC_000008 NC_018919 NG_016430 NT_037704 NW_001839142 NW_004929341
Consensus coding sequences : CCDS (NCBI)RECQL4
Cluster EST : UnigeneHs.31442 [ NCBI ]
CGAP (NCI)Hs.31442
Alternative Splicing : Fast-db (Paris)GSHG0029960
Alternative Splicing GalleryENSG00000160957
Gene ExpressionRECQL4 [ NCBI-GEO ]     RECQL4 [ SEEK ]   RECQL4 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO94761 (Uniprot)
NextProtO94761  [Medical]
With graphics : InterProO94761
Splice isoforms : SwissVarO94761 (Swissvar)
Catalytic activity : Enzyme3.6.4.12 [ Enzyme-Expasy ]   3.6.4.123.6.4.12 [ IntEnz-EBI ]   3.6.4.12 [ BRENDA ]   3.6.4.12 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)DEAH_ATP_HELICASE (PS00690)    HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)   
Domains : Interpro (EBI)DNA/RNA_helicase_DEAD/DEAH_N    DNA_helicase_ATP-dep_RecQ    DNA_rep_checkpnt_protein    Helicase_ATP-bd    Helicase_C    P-loop_NTPase    Znf_CCHC   
Related proteins : CluSTrO94761
Domain families : Pfam (Sanger)DEAD (PF00270)    Drc1-Sld2 (PF11719)    Helicase_C (PF00271)   
Domain families : Pfam (NCBI)pfam00270    pfam11719    pfam00271   
Domain families : Smart (EMBL)DEXDc (SM00487)  HELICc (SM00490)  ZnF_C2HC (SM00343)  
DMDM Disease mutations9401
Blocks (Seattle)O94761
PDB (SRS)2KMU   
PDB (PDBSum)2KMU   
PDB (IMB)2KMU   
PDB (RSDB)2KMU   
Human Protein AtlasENSG00000160957
Peptide AtlasO94761
HPRD04805
IPIIPI00014925   IPI01018157   
Protein Interaction databases
DIP (DOE-UCLA)O94761
IntAct (EBI)O94761
FunCoupENSG00000160957
BioGRIDRECQL4
InParanoidO94761
Interologous Interaction database O94761
IntegromeDBRECQL4
STRING (EMBL)RECQL4
Ontologies - Pathways
Ontology : AmiGObubble DNA binding  DNA strand renaturation  ATP binding  nucleus  cytoplasm  DNA replication  DNA repair  DNA recombination  multicellular organismal development  zinc ion binding  DNA duplex unwinding  ATP-dependent 3'-5' DNA helicase activity  
Ontology : EGO-EBIbubble DNA binding  DNA strand renaturation  ATP binding  nucleus  cytoplasm  DNA replication  DNA repair  DNA recombination  multicellular organismal development  zinc ion binding  DNA duplex unwinding  ATP-dependent 3'-5' DNA helicase activity  
REACTOMERECQL4
Protein Interaction DatabaseRECQL4
Wikipedia pathwaysRECQL4
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)RECQL4
SNP (GeneSNP Utah)RECQL4
SNP : HGBaseRECQL4
Genetic variants : HAPMAPRECQL4
1000_GenomesRECQL4 
ICGC programENSG00000160957 
Cancer Gene: CensusRECQL4 
Somatic Mutations in Cancer : COSMICRECQL4 
CONAN: Copy Number AnalysisRECQL4 
Mutations and Diseases : HGMDRECQL4
OMIM218600    266280    268400    603780   
GENETestsRECQL4
Disease Genetic AssociationRECQL4
Huge Navigator RECQL4 [HugePedia]  RECQL4 [HugeCancerGEM]
Genomic VariantsRECQL4  RECQL4 [DGVbeta]
Exome VariantRECQL4
dbVarRECQL4
ClinVarRECQL4
snp3D : Map Gene to Disease9401
General knowledge
Homologs : HomoloGeneRECQL4
Homology/Alignments : Family Browser (UCSC)RECQL4
Phylogenetic Trees/Animal Genes : TreeFamRECQL4
Chemical/Protein Interactions : CTD9401
Chemical/Pharm GKB GenePA34316
Clinical trialRECQL4
Cancer Resource (Charite)ENSG00000160957
Other databases
Probes
Litterature
PubMed66 Pubmed reference(s) in Entrez
CoreMineRECQL4
iHOPRECQL4

Bibliography

Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes.
Kitao S, Ohsugi I, Ichikawa K, Goto M, Furuichi Y, Shimamoto A
Genomics. 1998 ; 54 (3) : 443-452.
PMID 9878247
 
Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome.
Kitao S, Shimamoto A, Goto M, Miller RW, Smithson WA, Lindor NM, Furuichi Y
Nature genetics. 1999 ; 22 (1) : 82-84.
PMID 10319867
 
Rothmund-thomson syndrome responsible gene, RECQL4: genomic structure and products.
Kitao S, Lindor NM, Shiratori M, Furuichi Y, Shimamoto A
Genomics. 1999 ; 61 (3) : 268-276.
PMID 10552928
 
RecQ family helicases: roles in cancer and aging.
Karow JK, Wu L, Hickson ID
Current opinion in genetics & development. 2000 ; 10 (1) : 32-38.
PMID 10679384
 
Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome.
Lindor NM, Furuichi Y, Kitao S, Shimamoto A, Arndt C, Jalal S
American journal of medical genetics. 2000 ; 90 (3) : 223-228.
PMID 10678659
 
DNA helicase deficiencies associated with cancer predisposition and premature ageing disorders.
Mohaghegh P, Hickson ID
Human molecular genetics. 2001 ; 10 (7) : 741-746.
PMID 11257107
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written10-2001Alessandro Beghini

Citation

This paper should be referenced as such :
Beghini A . RECQL4 (RecQ protein-like 4. Atlas Genet Cytogenet Oncol Haematol. October 2001 .
URL : http://AtlasGeneticsOncology.org/Genes/RECQL4ID285.html

The various updated versions of this paper are referenced and archived by INIST as such :
http://documents.irevues.inist.fr/bitstream/2042/37810/1/10-2001-RECQL4ID285.pdf   [ Bibliographic record ]

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indexed on : Fri Apr 18 17:31:12 CEST 2014

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