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RECQL4 (RecQ protein-like 4

Written2001-10Alessandro Beghini
University of Milan, Medical Faculty, Department of Biology, Genetics for Medical Sciences, via Viotti 5, 20133-Milan, Italy

(Note : for Links provided by Atlas : click)

Identity

Other namesRecQ4
RTS
RecQ protein like 4
ATP-dependent DNA helicase Q4
HGNC (Hugo) RECQL4
LocusID (NCBI) 9401
Atlas_Id 285
Location 8q24.3  [Link to chromosome band 8q24]
Location_base_pair Starts at 145736667 and ends at 145743210 bp from pter ( according to hg19-Feb_2009)  [Mapping RECQL4.png]

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

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

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
 

Citation

This paper should be referenced as such :
Beghini, A
RECQL4 (RecQ protein-like 4)
Atlas Genet Cytogenet Oncol Haematol. 2002;6(1):22-24.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/RECQL4ID285.html


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 0 ]
  Bone: Conventional Osteosarcoma

Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Rothmund-Thomson syndrome (RTS)

External links

Nomenclature
HGNC (Hugo)RECQL4   9949
Cards
AtlasRECQL4ID285
Entrez_Gene (NCBI)RECQL4  9401  RecQ like helicase 4
AliasesRECQ4
GeneCards (Weizmann)RECQL4
Ensembl hg19 (Hinxton)ENSG00000160957 [Gene_View]  chr8:145736667-145743210 [Contig_View]  RECQL4 [Vega]
Ensembl hg38 (Hinxton)ENSG00000160957 [Gene_View]  chr8:145736667-145743210 [Contig_View]  RECQL4 [Vega]
ICGC DataPortalENSG00000160957
TCGA cBioPortalRECQL4
AceView (NCBI)RECQL4
Genatlas (Paris)RECQL4
WikiGenes9401
SOURCE (Princeton)RECQL4
Genomic and cartography
GoldenPath hg19 (UCSC)RECQL4  -     chr8:145736667-145743210 -  8q24.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)RECQL4  -     8q24.3   [Description]    (hg38-Dec_2013)
EnsemblRECQL4 - 8q24.3 [CytoView hg19]  RECQL4 - 8q24.3 [CytoView hg38]
Mapping of homologs : NCBIRECQL4 [Mapview hg19]  RECQL4 [Mapview hg38]
OMIM218600   266280   268400   603780   
Gene and transcription
Genbank (Entrez)AB006532 BC011602 BC013277 BC020496 CN286057
RefSeq transcript (Entrez)NM_004260
RefSeq genomic (Entrez)NC_000008 NC_018919 NG_016430 NT_008046 NW_004929341
Consensus coding sequences : CCDS (NCBI)RECQL4
Cluster EST : UnigeneHs.31442 [ NCBI ]
CGAP (NCI)Hs.31442
Alternative Splicing GalleryENSG00000160957
Gene ExpressionRECQL4 [ NCBI-GEO ]   RECQL4 [ EBI - ARRAY_EXPRESS ]   RECQL4 [ SEEK ]   RECQL4 [ MEM ]
Gene Expression Viewer (FireBrowse)RECQL4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9401
GTEX Portal (Tissue expression)RECQL4
Protein : pattern, domain, 3D structure
UniProt/SwissProtO94761 (Uniprot)
NextProtO94761  [Sequence]  [Exons]  [Medical]  [Publications]
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 ]   
PhosPhoSitePlusO94761
Domaine pattern : Prosite (Expaxy)HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)   
Domains : Interpro (EBI)DEAD/DEAH_box_helicase_dom    DNA_helicase_ATP-dep_RecQ    DNA_rep_checkpnt_protein    Helicase_ATP-bd    Helicase_C    P-loop_NTPase    Znf_CCHC   
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)RECQL4
PDB (SRS)2KMU   
PDB (PDBSum)2KMU   
PDB (IMB)2KMU   
PDB (RSDB)2KMU   
Structural Biology KnowledgeBase2KMU   
SCOP (Structural Classification of Proteins)2KMU   
CATH (Classification of proteins structures)2KMU   
SuperfamilyO94761
Human Protein AtlasENSG00000160957
Peptide AtlasO94761
HPRD04805
IPIIPI00014925   IPI01018157   
Protein Interaction databases
DIP (DOE-UCLA)O94761
IntAct (EBI)O94761
FunCoupENSG00000160957
BioGRIDRECQL4
STRING (EMBL)RECQL4
ZODIACRECQL4
Ontologies - Pathways
QuickGOO94761
Ontology : AmiGObubble DNA binding  DNA strand renaturation  protein binding  ATP binding  nucleus  chromosome  cytoplasm  DNA replication  DNA repair  base-excision repair  double-strand break repair  DNA recombination  multicellular organism development  four-way junction helicase activity  membrane  DNA duplex unwinding  annealing helicase activity  ATP-dependent 3'-5' DNA helicase activity  
Ontology : EGO-EBIbubble DNA binding  DNA strand renaturation  protein binding  ATP binding  nucleus  chromosome  cytoplasm  DNA replication  DNA repair  base-excision repair  double-strand break repair  DNA recombination  multicellular organism development  four-way junction helicase activity  membrane  DNA duplex unwinding  annealing helicase activity  ATP-dependent 3'-5' DNA helicase activity  
NDEx Network
Atlas of Cancer Signalling NetworkRECQL4
Wikipedia pathwaysRECQL4
Orthology - Evolution
OrthoDB9401
GeneTree (enSembl)ENSG00000160957
Phylogenetic Trees/Animal Genes : TreeFamRECQL4
Homologs : HomoloGeneRECQL4
Homology/Alignments : Family Browser (UCSC)RECQL4
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerRECQL4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RECQL4
dbVarRECQL4
ClinVarRECQL4
1000_GenomesRECQL4 
Exome Variant ServerRECQL4
ExAC (Exome Aggregation Consortium)RECQL4 (select the gene name)
Genetic variants : HAPMAP9401
Genomic Variants (DGV)RECQL4 [DGVbeta]
Mutations
ICGC Data PortalRECQL4 
TCGA Data PortalRECQL4 
Broad Tumor PortalRECQL4
OASIS PortalRECQL4 [ Somatic mutations - Copy number]
Cancer Gene: CensusRECQL4 
Somatic Mutations in Cancer : COSMICRECQL4 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch RECQL4
DgiDB (Drug Gene Interaction Database)RECQL4
DoCM (Curated mutations)RECQL4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RECQL4 (select a term)
intoGenRECQL4
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)8:145736667-145743210  ENSG00000160957
CONAN: Copy Number AnalysisRECQL4 
Mutations and Diseases : HGMDRECQL4
OMIM218600    266280    268400    603780   
MedgenRECQL4
Genetic Testing Registry RECQL4
NextProtO94761 [Medical]
TSGene9401
GENETestsRECQL4
Huge Navigator RECQL4 [HugePedia]
snp3D : Map Gene to Disease9401
BioCentury BCIQRECQL4
ClinGenRECQL4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9401
Chemical/Pharm GKB GenePA34316
Clinical trialRECQL4
Miscellaneous
canSAR (ICR)RECQL4 (select the gene name)
Probes
Litterature
PubMed83 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRECQL4
EVEXRECQL4
GoPubMedRECQL4
iHOPRECQL4
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Jun 11 13:03:08 CEST 2016

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