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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

Alias (NCBI)RecQ4
RTS
RecQ protein like 4
ATP-dependent DNA helicase Q4
HGNC (Hugo) RECQL4
HGNC Alias symbRecQ4
HGNC Previous nameRecQ helicase-like 4
LocusID (NCBI) 9401
Atlas_Id 285
Location 8q24.3  [Link to chromosome band 8q24]
Location_base_pair Starts at 144511288 and ends at 144517833 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping RECQL4.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

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

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 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
 
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 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 ]


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


External links

 

Nomenclature
HGNC (Hugo)RECQL4   9949
LRG (Locus Reference Genomic)LRG_277
Cards
AtlasRECQL4ID285
Atlas Explorer : (Salamanque)RECQL4
Entrez_Gene (NCBI)RECQL4    RecQ like helicase 4
AliasesRECQ4
GeneCards (Weizmann)RECQL4
Ensembl hg19 (Hinxton)ENSG00000160957 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000160957 [Gene_View]  ENSG00000160957 [Sequence]  chr8:144511288-144517833 [Contig_View]  RECQL4 [Vega]
ICGC DataPortalENSG00000160957
TCGA cBioPortalRECQL4
AceView (NCBI)RECQL4
Genatlas (Paris)RECQL4
SOURCE (Princeton)RECQL4
Genetics Home Reference (NIH)RECQL4
Genomic and cartography
GoldenPath hg38 (UCSC)RECQL4  -     chr8:144511288-144517833 -  8q24.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RECQL4  -     8q24.3   [Description]    (hg19-Feb_2009)
GoldenPathRECQL4 - 8q24.3 [CytoView hg19]  RECQL4 - 8q24.3 [CytoView hg38]
ImmunoBaseENSG00000160957
Genome Data Viewer NCBIRECQL4 [Mapview hg19]  
OMIM218600   266280   268400   603780   
Gene and transcription
Genbank (Entrez)AB006532 BC011602 BC013277 BC020496 CN286057
RefSeq transcript (Entrez)NM_004260
Consensus coding sequences : CCDS (NCBI)RECQL4
Gene ExpressionRECQL4 [ NCBI-GEO ]   RECQL4 [ EBI - ARRAY_EXPRESS ]   RECQL4 [ SEEK ]   RECQL4 [ MEM ]
Gene Expression Viewer (FireBrowse)RECQL4 [ Firebrowse - Broad ]
GenevisibleExpression of RECQL4 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9401
GTEX Portal (Tissue expression)RECQL4
Human Protein AtlasENSG00000160957-RECQL4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO94761   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO94761  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO94761
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 ]   [ MEROPS ]
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   
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)  
Conserved Domain (NCBI)RECQL4
PDB (RSDB)2KMU    5LST   
PDB Europe2KMU    5LST   
PDB (PDBSum)2KMU    5LST   
PDB (IMB)2KMU    5LST   
Structural Biology KnowledgeBase2KMU    5LST   
SCOP (Structural Classification of Proteins)2KMU    5LST   
CATH (Classification of proteins structures)2KMU    5LST   
SuperfamilyO94761
AlphaFold pdb e-kbO94761   
Human Protein Atlas [tissue]ENSG00000160957-RECQL4 [tissue]
HPRD04805
Protein Interaction databases
DIP (DOE-UCLA)O94761
IntAct (EBI)O94761
BioGRIDRECQL4
STRING (EMBL)RECQL4
ZODIACRECQL4
Ontologies - Pathways
QuickGOO94761
Ontology : AmiGObubble DNA binding  telomere maintenance  telomere maintenance  double-strand break repair via homologous recombination  chromosome, telomeric region  helicase activity  protein binding  ATP binding  nucleus  chromosome  cytoplasm  DNA replication  DNA unwinding involved in DNA replication  DNA repair  DNA recombination  four-way junction helicase activity  membrane  ATP hydrolysis activity  oxidized purine DNA binding  DNA duplex unwinding  DNA duplex unwinding  DNA duplex unwinding  3'-5' DNA helicase activity  3'-5' DNA helicase activity  telomeric D-loop disassembly  telomeric D-loop disassembly  telomeric D-loop binding  DNA/DNA annealing activity  
Ontology : EGO-EBIbubble DNA binding  telomere maintenance  telomere maintenance  double-strand break repair via homologous recombination  chromosome, telomeric region  helicase activity  protein binding  ATP binding  nucleus  chromosome  cytoplasm  DNA replication  DNA unwinding involved in DNA replication  DNA repair  DNA recombination  four-way junction helicase activity  membrane  ATP hydrolysis activity  oxidized purine DNA binding  DNA duplex unwinding  DNA duplex unwinding  DNA duplex unwinding  3'-5' DNA helicase activity  3'-5' DNA helicase activity  telomeric D-loop disassembly  telomeric D-loop disassembly  telomeric D-loop binding  DNA/DNA annealing activity  
NDEx NetworkRECQL4
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
Fusion : FusionHubBCAS1--RECQL4    CDK12--RECQL4    CPSF1--RECQL4    HMOX2--RECQL4    RECQL4--CPSF1    RECQL4--ROBO3   
Fusion : QuiverRECQL4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRECQL4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RECQL4
dbVarRECQL4
ClinVarRECQL4
MonarchRECQL4
1000_GenomesRECQL4 
Exome Variant ServerRECQL4
GNOMAD BrowserENSG00000160957
Varsome BrowserRECQL4
ACMGRECQL4 variants
VarityO94761
Genomic Variants (DGV)RECQL4 [DGVbeta]
DECIPHERRECQL4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRECQL4 
Mutations
ICGC Data PortalRECQL4 
TCGA Data PortalRECQL4 
Broad Tumor PortalRECQL4
OASIS PortalRECQL4 [ Somatic mutations - Copy number]
Cancer Gene: CensusRECQL4 
Somatic Mutations in Cancer : COSMICRECQL4  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DRECQL4
Mutations and Diseases : HGMDRECQL4
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaRECQL4
DgiDB (Drug Gene Interaction Database)RECQL4
DoCM (Curated mutations)RECQL4
CIViC (Clinical Interpretations of Variants in Cancer)RECQL4
OncoKBRECQL4
NCG (London)RECQL4
Cancer3DRECQL4
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM218600    266280    268400    603780   
Orphanet1469    2716    18930   
DisGeNETRECQL4
MedgenRECQL4
Genetic Testing Registry RECQL4
NextProtO94761 [Medical]
GENETestsRECQL4
Target ValidationRECQL4
Huge Navigator RECQL4 [HugePedia]
ClinGenRECQL4
Clinical trials, drugs, therapy
MyCancerGenomeRECQL4
Protein Interactions : CTDRECQL4
Pharm GKB GenePA34316
PharosO94761
Clinical trialRECQL4
Miscellaneous
canSAR (ICR)RECQL4
HarmonizomeRECQL4
ARCHS4RECQL4
DataMed IndexRECQL4
Probes
Litterature
PubMed120 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXRECQL4
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 20 14:16:15 CET 2022

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