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RECQL RecQ protein-like (DNA helicase Q1-like)

Written2003-01Mounira Amor-Guéret
Institut Curie - Section de Recherche, UMR 2027 CNRS, Bâtiment 110, Centre Universitaire, F-91405 Orsay Cedex, France

(Note : for Links provided by Atlas : click)

Identity

Alias_namesRecQ protein-like (DNA helicase Q1-like)
RecQ helicase-like
Alias_symbol (synonym)RecQ1
RecQL1
Other alias
HGNC (Hugo) RECQL
LocusID (NCBI) 5965
Atlas_Id 283
Location 12p12.1  [Link to chromosome band 12p12]
Location_base_pair Starts at 21621844 and ends at 21654603 bp from pter ( according to hg19-Feb_2009)  [Mapping RECQL.png]
Fusion genes
(updated 2016)
BCAT1 (12p12.1) / RECQL (12p12.1)RECQL (12p12.1) / FGF23 (12p13.32)RECQL (12p12.1) / HAO2 (1p12)

DNA/RNA

Transcription Two alternatively spliced transcripts, which encode the same isoform but differ in their 5' and 3' UTRs, have been described. Coding region: 1977 bp. Three RNA bands of 4.0, 3.3 and 2.2 kb were detected in HeLa cells by Northern blotting.

Protein

Description 659 amino acids; contains one ATP binding site and one DexH box. Two other putative isoforms resulting from an alternative mRNA splicing may exist.
Localisation Nuclear
Function 3'-5' DNA helicase. Replication Protein A stimulates its helicase activity.
Homology Homologous to RecQ helicases, a subfamily of DExH box-containing DNA and RNA helicases. In particular, similarities with the four known human members in the RecQ subfamily, human RecQL4, human RecQL5, human BLM, the product of the Bloom syndrome gene and human WRN, the product of the Werner syndrome gene.

Mutations

Note Not described, and correlation with genetic disorder, if any, is (yet) unknown.

Bibliography

Characterization of the DNA-unwinding activity of human RECQ1, a helicase specifically stimulated by human replication protein A.
Cui S, Klima R, Ochem A, Arosio D, Falaschi A, Vindigni A
The Journal of biological chemistry. 2003 ; 278 (3) : 1424-1432.
PMID 12419808
 
Chromosomal localization of the gene encoding the human DNA helicase RECQL and its mouse homologue.
Puranam KL, Kennington E, Sait SN, Shows TB, Rochelle JM, Seldin MF, Blackshear PJ
Genomics. 1995 ; 26 (3) : 595-598.
PMID 7607686
 
Molecular cloning of cDNA encoding human DNA helicase Q1 which has homology to Escherichia coli Rec Q helicase and localization of the gene at chromosome 12p12.
Seki M, Miyazawa H, Tada S, Yanagisawa J, Yamaoka T, Hoshino S, Ozawa K, Eki T, Nogami M, Okumura K
Nucleic acids research. 1994 ; 22 (22) : 4566-4573.
PMID 7527136
 
Molecular cloning of a splicing variant of human RECQL helicase.
Zhang AH, Xi X
Biochemical and biophysical research communications. 2002 ; 298 (5) : 789-792.
PMID 12419324
 

Citation

This paper should be referenced as such :
Amor-Guéret, M
RECQL (RecQ protein-like (DNA helicase Q1-like))
Atlas Genet Cytogenet Oncol Haematol. 2003;7(2):100-100.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/RECQLID283.html


External links

Nomenclature
HGNC (Hugo)RECQL   9948
Cards
AtlasRECQLID283
Entrez_Gene (NCBI)RECQL  5965  RecQ like helicase
AliasesRECQL1; RecQ1
GeneCards (Weizmann)RECQL
Ensembl hg19 (Hinxton)ENSG00000004700 [Gene_View]  chr12:21621844-21654603 [Contig_View]  RECQL [Vega]
Ensembl hg38 (Hinxton)ENSG00000004700 [Gene_View]  chr12:21621844-21654603 [Contig_View]  RECQL [Vega]
ICGC DataPortalENSG00000004700
TCGA cBioPortalRECQL
AceView (NCBI)RECQL
Genatlas (Paris)RECQL
WikiGenes5965
SOURCE (Princeton)RECQL
Genetics Home Reference (NIH)RECQL
Genomic and cartography
GoldenPath hg19 (UCSC)RECQL  -     chr12:21621844-21654603 -  12p12.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)RECQL  -     12p12.1   [Description]    (hg38-Dec_2013)
EnsemblRECQL - 12p12.1 [CytoView hg19]  RECQL - 12p12.1 [CytoView hg38]
Mapping of homologs : NCBIRECQL [Mapview hg19]  RECQL [Mapview hg38]
OMIM600537   
Gene and transcription
Genbank (Entrez)AK291627 AV718094 AY157499 BC001052 BE794392
RefSeq transcript (Entrez)NM_002907 NM_032941
RefSeq genomic (Entrez)NC_000012 NC_018923 NT_009714 NW_004929383
Consensus coding sequences : CCDS (NCBI)RECQL
Cluster EST : UnigeneHs.235069 [ NCBI ]
CGAP (NCI)Hs.235069
Alternative Splicing GalleryENSG00000004700
Gene ExpressionRECQL [ NCBI-GEO ]   RECQL [ EBI - ARRAY_EXPRESS ]   RECQL [ SEEK ]   RECQL [ MEM ]
Gene Expression Viewer (FireBrowse)RECQL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5965
GTEX Portal (Tissue expression)RECQL
Protein : pattern, domain, 3D structure
UniProt/SwissProtP46063   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP46063  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP46063
Splice isoforms : SwissVarP46063
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 ]   
PhosPhoSitePlusP46063
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    Helicase_ATP-bd    Helicase_C    P-loop_NTPase    RecQ_Zn-bd    WHTH_DNA-bd_dom   
Domain families : Pfam (Sanger)DEAD (PF00270)    Helicase_C (PF00271)    RecQ_Zn_bind (PF16124)   
Domain families : Pfam (NCBI)pfam00270    pfam00271    pfam16124   
Domain families : Smart (EMBL)DEXDc (SM00487)  HELICc (SM00490)  
Conserved Domain (NCBI)RECQL
DMDM Disease mutations5965
Blocks (Seattle)RECQL
PDB (SRS)2V1X    2WWY    4U7D   
PDB (PDBSum)2V1X    2WWY    4U7D   
PDB (IMB)2V1X    2WWY    4U7D   
PDB (RSDB)2V1X    2WWY    4U7D   
Structural Biology KnowledgeBase2V1X    2WWY    4U7D   
SCOP (Structural Classification of Proteins)2V1X    2WWY    4U7D   
CATH (Classification of proteins structures)2V1X    2WWY    4U7D   
SuperfamilyP46063
Human Protein AtlasENSG00000004700
Peptide AtlasP46063
HPRD02762
IPIIPI00178431   IPI00792775   IPI01013557   IPI01012611   IPI01012746   IPI01012224   IPI01012582   
Protein Interaction databases
DIP (DOE-UCLA)P46063
IntAct (EBI)P46063
FunCoupENSG00000004700
BioGRIDRECQL
STRING (EMBL)RECQL
ZODIACRECQL
Ontologies - Pathways
QuickGOP46063
Ontology : AmiGOdouble-strand break repair via homologous recombination  DNA strand renaturation  DNA binding  DNA helicase activity  ATP-dependent DNA helicase activity  protein binding  ATP binding  nucleus  nucleoplasm  chromosome  cytoplasm  DNA repair  four-way junction helicase activity  membrane  DNA duplex unwinding  DNA duplex unwinding  DNA duplex unwinding  annealing helicase activity  ATP-dependent 3'-5' DNA helicase activity  
Ontology : EGO-EBIdouble-strand break repair via homologous recombination  DNA strand renaturation  DNA binding  DNA helicase activity  ATP-dependent DNA helicase activity  protein binding  ATP binding  nucleus  nucleoplasm  chromosome  cytoplasm  DNA repair  four-way junction helicase activity  membrane  DNA duplex unwinding  DNA duplex unwinding  DNA duplex unwinding  annealing helicase activity  ATP-dependent 3'-5' DNA helicase activity  
NDEx NetworkRECQL
Atlas of Cancer Signalling NetworkRECQL
Wikipedia pathwaysRECQL
Orthology - Evolution
OrthoDB5965
GeneTree (enSembl)ENSG00000004700
Phylogenetic Trees/Animal Genes : TreeFamRECQL
HOVERGENP46063
HOGENOMP46063
Homologs : HomoloGeneRECQL
Homology/Alignments : Family Browser (UCSC)RECQL
Gene fusions - Rearrangements
Fusion : MitelmanBCAT1/RECQL [12p12.1/12p12.1]  [t(12;12)(p12;p12)]  
Fusion: TCGABCAT1 12p12.1 RECQL 12p12.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRECQL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RECQL
dbVarRECQL
ClinVarRECQL
1000_GenomesRECQL 
Exome Variant ServerRECQL
ExAC (Exome Aggregation Consortium)RECQL (select the gene name)
Genetic variants : HAPMAP5965
Genomic Variants (DGV)RECQL [DGVbeta]
DECIPHER (Syndromes)12:21621844-21654603  ENSG00000004700
CONAN: Copy Number AnalysisRECQL 
Mutations
ICGC Data PortalRECQL 
TCGA Data PortalRECQL 
Broad Tumor PortalRECQL
OASIS PortalRECQL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRECQL  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRECQL
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 RECQL
DgiDB (Drug Gene Interaction Database)RECQL
DoCM (Curated mutations)RECQL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RECQL (select a term)
intoGenRECQL
NCG5 (London)RECQL
Cancer3DRECQL(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600537   
Orphanet
MedgenRECQL
Genetic Testing Registry RECQL
NextProtP46063 [Medical]
TSGene5965
GENETestsRECQL
Huge Navigator RECQL [HugePedia]
snp3D : Map Gene to Disease5965
BioCentury BCIQRECQL
ClinGenRECQL
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5965
Chemical/Pharm GKB GenePA34315
Clinical trialRECQL
Miscellaneous
canSAR (ICR)RECQL (select the gene name)
Probes
Litterature
PubMed68 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRECQL
EVEXRECQL
GoPubMedRECQL
iHOPRECQL
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:48:25 CET 2017

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