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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

HGNC (Hugo) RECQL
HGNC Alias symbRecQ1
RecQL1
HGNC Alias nameDNA helicase Q1-like
HGNC Previous nameRecQ protein-like (DNA helicase Q1-like)
 RecQ helicase-like
LocusID (NCBI) 5965
Atlas_Id 283
Location 12p12.1  [Link to chromosome band 12p12]
Location_base_pair Starts at 21468910 and ends at 21501669 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping RECQL.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)
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 ]


External links

 

Nomenclature
HGNC (Hugo)RECQL   9948
Cards
AtlasRECQLID283
Entrez_Gene (NCBI)RECQL    RecQ like helicase
AliasesRECQL1; RecQ1
GeneCards (Weizmann)RECQL
Ensembl hg19 (Hinxton)ENSG00000004700 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000004700 [Gene_View]  ENSG00000004700 [Sequence]  chr12:21468910-21501669 [Contig_View]  RECQL [Vega]
ICGC DataPortalENSG00000004700
TCGA cBioPortalRECQL
AceView (NCBI)RECQL
Genatlas (Paris)RECQL
SOURCE (Princeton)RECQL
Genetics Home Reference (NIH)RECQL
Genomic and cartography
GoldenPath hg38 (UCSC)RECQL  -     chr12:21468910-21501669 -  12p12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RECQL  -     12p12.1   [Description]    (hg19-Feb_2009)
GoldenPathRECQL - 12p12.1 [CytoView hg19]  RECQL - 12p12.1 [CytoView hg38]
ImmunoBaseENSG00000004700
Genome Data Viewer NCBIRECQL [Mapview hg19]  
OMIM600537   
Gene and transcription
Genbank (Entrez)AK291627 AV718094 AY157499 BC001052 BE794392
RefSeq transcript (Entrez)NM_002907 NM_032941
Consensus coding sequences : CCDS (NCBI)RECQL
Gene ExpressionRECQL [ NCBI-GEO ]   RECQL [ EBI - ARRAY_EXPRESS ]   RECQL [ SEEK ]   RECQL [ MEM ]
Gene Expression Viewer (FireBrowse)RECQL [ Firebrowse - Broad ]
GenevisibleExpression of RECQL in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5965
GTEX Portal (Tissue expression)RECQL
Human Protein AtlasENSG00000004700-RECQL [pathology]   [cell]   [tissue]
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
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 ]
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    WH-like_DNA-bd_sf   
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
PDB (RSDB)2V1X    2WWY    4U7D    6JTZ   
PDB Europe2V1X    2WWY    4U7D    6JTZ   
PDB (PDBSum)2V1X    2WWY    4U7D    6JTZ   
PDB (IMB)2V1X    2WWY    4U7D    6JTZ   
Structural Biology KnowledgeBase2V1X    2WWY    4U7D    6JTZ   
SCOP (Structural Classification of Proteins)2V1X    2WWY    4U7D    6JTZ   
CATH (Classification of proteins structures)2V1X    2WWY    4U7D    6JTZ   
SuperfamilyP46063
AlphaFold pdb e-kbP46063   
Human Protein Atlas [tissue]ENSG00000004700-RECQL [tissue]
HPRD02762
Protein Interaction databases
DIP (DOE-UCLA)P46063
IntAct (EBI)P46063
BioGRIDRECQL
STRING (EMBL)RECQL
ZODIACRECQL
Ontologies - Pathways
QuickGOP46063
Ontology : AmiGOdouble-strand break repair via homologous recombination  DNA binding  DNA helicase activity  protein binding  ATP binding  nucleus  nucleoplasm  chromosome  cytoplasm  DNA unwinding involved in DNA replication  DNA repair  DNA recombination  four-way junction helicase activity  membrane  hydrolase activity  DNA duplex unwinding  annealing helicase activity  annealing helicase activity  3'-5' DNA helicase activity  
Ontology : EGO-EBIdouble-strand break repair via homologous recombination  DNA binding  DNA helicase activity  protein binding  ATP binding  nucleus  nucleoplasm  chromosome  cytoplasm  DNA unwinding involved in DNA replication  DNA repair  DNA recombination  four-way junction helicase activity  membrane  hydrolase activity  DNA duplex unwinding  annealing helicase activity  annealing helicase activity  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
Homologs : HomoloGeneRECQL
Homology/Alignments : Family Browser (UCSC)RECQL
Gene fusions - Rearrangements
Fusion : MitelmanBCAT1::RECQL [12p12.1/12p12.1]  
Fusion : QuiverRECQL
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRECQL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RECQL
dbVarRECQL
ClinVarRECQL
MonarchRECQL
1000_GenomesRECQL 
Exome Variant ServerRECQL
GNOMAD BrowserENSG00000004700
Varsome BrowserRECQL
ACMGRECQL variants
VarityP46063
Genomic Variants (DGV)RECQL [DGVbeta]
DECIPHERRECQL [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DRECQL
Mutations and Diseases : HGMDRECQL
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaRECQL
DgiDB (Drug Gene Interaction Database)RECQL
DoCM (Curated mutations)RECQL
CIViC (Clinical Interpretations of Variants in Cancer)RECQL
OncoKBRECQL
NCG (London)RECQL
Cancer3DRECQL
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600537   
Orphanet
DisGeNETRECQL
MedgenRECQL
Genetic Testing Registry RECQL
NextProtP46063 [Medical]
GENETestsRECQL
Target ValidationRECQL
Huge Navigator RECQL [HugePedia]
ClinGenRECQL
Clinical trials, drugs, therapy
MyCancerGenomeRECQL
Protein Interactions : CTDRECQL
Pharm GKB GenePA34315
PharosP46063
Clinical trialRECQL
Miscellaneous
canSAR (ICR)RECQL
HarmonizomeRECQL
DataMed IndexRECQL
Probes
Litterature
PubMed111 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXRECQL
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Oct 8 21:26:50 CEST 2021

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