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RECQL5 (RecQ protein-like 5)

Written2002-04Mounira 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_symbol (synonym)RecQ5
FLJ90603
Other alias
HGNC (Hugo) RECQL5
LocusID (NCBI) 9400
Atlas_Id 286
Location 17q25.1  [Link to chromosome band 17q25]
Location_base_pair Starts at 75649714 and ends at 75667189 bp from pter ( according to hg19-Feb_2009)  [Mapping RECQL5.png]
Fusion genes
(updated 2016)
RECQL5 (17q25.1) / IVNS1ABP (1q25.3)RECQL5 (17q25.1) / RECQL5 (17q25.1)RECQL5 (17q25.1) / SEC14L1 (17q25.2)
RECQL5 (17q25.1) / WBP2 (17q25.1)SLC41A3 (3q21.2) / RECQL5 (17q25.1)

DNA/RNA

Transcription Three different transcripts : 3715 bases (RecQ5a), 3703 bases (RecQ5b), 1749 bases (RecQ5g).

Protein

Description 410 amino acids (RecQ5a), 991 amino acids (RecQ5b), 435 amino acids (RecQ5g). The predicted protein structures of all three polypeptides share seven motifs conserved for DNA helicases. RecQ5b contains a large C-terminal region that includes a domain homologous to the non-helicase domain of the E. coli RecQ DNA helicase.
Localisation RecQ5a and RecQ5g are localized in the cytoplasm, whereas RecQ5b is localized in the nucleus.
Function Unknown
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 RecQL, human RecQL4, human BLM, the product of the Bloom syndrome gene and human WRN, the product of the Werner syndrome gene.

Mutations

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

Bibliography

Differential regulation of human RecQ family helicases in cell transformation and cell cycle.
Kawabe T, Tsuyama N, Kitao S, Nishikawa K, Shimamoto A, Shiratori M, Matsumoto T, Anno K, Sato T, Mitsui Y, Seki M, Enomoto T, Goto M, Ellis NA, Ide T, Furuichi Y, Sugimoto M
Oncogene. 2000 ; 19 (41) : 4764-4772.
PMID 11032027
 
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
 
Human RecQ5beta, a large isomer of RecQ5 DNA helicase, localizes in the nucleoplasm and interacts with topoisomerases 3alpha and 3beta.
Shimamoto A, Nishikawa K, Kitao S, Furuichi Y
Nucleic acids research. 2000 ; 28 (7) : 1647-1655.
PMID 10710432
 

Citation

This paper should be referenced as such :
Amor-Guéret, M
RECQL5 (RecQ protein-like 5)
Atlas Genet Cytogenet Oncol Haematol. 2002;6(3):201-201.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/RECQL5ID286.html


External links

Nomenclature
HGNC (Hugo)RECQL5   9950
Cards
AtlasRECQL5ID286
Entrez_Gene (NCBI)RECQL5  9400  RecQ like helicase 5
AliasesRECQ5
GeneCards (Weizmann)RECQL5
Ensembl hg19 (Hinxton)ENSG00000108469 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000108469 [Gene_View]  chr17:75649714-75667189 [Contig_View]  RECQL5 [Vega]
ICGC DataPortalENSG00000108469
TCGA cBioPortalRECQL5
AceView (NCBI)RECQL5
Genatlas (Paris)RECQL5
WikiGenes9400
SOURCE (Princeton)RECQL5
Genetics Home Reference (NIH)RECQL5
Genomic and cartography
GoldenPath hg38 (UCSC)RECQL5  -     chr17:75649714-75667189 -  17q25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RECQL5  -     17q25.1   [Description]    (hg19-Feb_2009)
EnsemblRECQL5 - 17q25.1 [CytoView hg19]  RECQL5 - 17q25.1 [CytoView hg38]
Mapping of homologs : NCBIRECQL5 [Mapview hg19]  RECQL5 [Mapview hg38]
OMIM603781   
Gene and transcription
Genbank (Entrez)AB006533 AB042823 AB042824 AB042825 AF193041
RefSeq transcript (Entrez)NM_001003715 NM_001003716 NM_004259
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RECQL5
Cluster EST : UnigeneHs.632229 [ NCBI ]
CGAP (NCI)Hs.632229
Alternative Splicing GalleryENSG00000108469
Gene ExpressionRECQL5 [ NCBI-GEO ]   RECQL5 [ EBI - ARRAY_EXPRESS ]   RECQL5 [ SEEK ]   RECQL5 [ MEM ]
Gene Expression Viewer (FireBrowse)RECQL5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9400
GTEX Portal (Tissue expression)RECQL5
Protein : pattern, domain, 3D structure
UniProt/SwissProtO94762   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO94762  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO94762
Splice isoforms : SwissVarO94762
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 ]   
PhosPhoSitePlusO94762
Domaine pattern : Prosite (Expaxy)DEAH_ATP_HELICASE (PS00690)    HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)   
Domains : Interpro (EBI)DEAD/DEAH_box_helicase_dom    DNA/RNA_helicase_DEAH_CS    DNA_helicase_ATP-dep_RecQ    Helicase_ATP-bd    Helicase_C    P-loop_NTPase    RECQ5    RecQ_Zn-bd    WHTH_DNA-bd_dom   
Domain families : Pfam (Sanger)DEAD (PF00270)    Helicase_C (PF00271)    RecQ5 (PF06959)    RecQ_Zn_bind (PF16124)   
Domain families : Pfam (NCBI)pfam00270    pfam00271    pfam06959    pfam16124   
Domain families : Smart (EMBL)DEXDc (SM00487)  HELICc (SM00490)  
Domain structure : Prodom (Prabi Lyon)RecQ_helicase-like_5 (PD120154)   
Conserved Domain (NCBI)RECQL5
DMDM Disease mutations9400
Blocks (Seattle)RECQL5
PDB (SRS)4BK0    5LB3    5LB5    5LB8    5LBA   
PDB (PDBSum)4BK0    5LB3    5LB5    5LB8    5LBA   
PDB (IMB)4BK0    5LB3    5LB5    5LB8    5LBA   
PDB (RSDB)4BK0    5LB3    5LB5    5LB8    5LBA   
Structural Biology KnowledgeBase4BK0    5LB3    5LB5    5LB8    5LBA   
SCOP (Structural Classification of Proteins)4BK0    5LB3    5LB5    5LB8    5LBA   
CATH (Classification of proteins structures)4BK0    5LB3    5LB5    5LB8    5LBA   
SuperfamilyO94762
Human Protein AtlasENSG00000108469
Peptide AtlasO94762
HPRD04806
IPIIPI01015246   IPI00220819   IPI00220820   IPI00185769   IPI00855848   IPI01014741   
Protein Interaction databases
DIP (DOE-UCLA)O94762
IntAct (EBI)O94762
FunCoupENSG00000108469
BioGRIDRECQL5
STRING (EMBL)RECQL5
ZODIACRECQL5
Ontologies - Pathways
QuickGOO94762
Ontology : AmiGOmitotic cell cycle  double-strand break repair via homologous recombination  RNA polymerase II core binding  DNA binding  DNA helicase activity  DNA helicase activity  ATP binding  nucleus  nucleoplasm  chromosome  cytoplasm  cytoplasm  cytosol  DNA metabolic process  DNA replication  DNA repair  four-way junction helicase activity  DNA-directed RNA polymerase II, holoenzyme  DNA duplex unwinding  negative regulation of transcription elongation from RNA polymerase II promoter  cellular response to drug  ATP-dependent 3'-5' DNA helicase activity  cell division  chromosome separation  cellular response to camptothecin  replication-born double-strand break repair via sister chromatid exchange  negative regulation of double-strand break repair via homologous recombination  
Ontology : EGO-EBImitotic cell cycle  double-strand break repair via homologous recombination  RNA polymerase II core binding  DNA binding  DNA helicase activity  DNA helicase activity  ATP binding  nucleus  nucleoplasm  chromosome  cytoplasm  cytoplasm  cytosol  DNA metabolic process  DNA replication  DNA repair  four-way junction helicase activity  DNA-directed RNA polymerase II, holoenzyme  DNA duplex unwinding  negative regulation of transcription elongation from RNA polymerase II promoter  cellular response to drug  ATP-dependent 3'-5' DNA helicase activity  cell division  chromosome separation  cellular response to camptothecin  replication-born double-strand break repair via sister chromatid exchange  negative regulation of double-strand break repair via homologous recombination  
NDEx NetworkRECQL5
Atlas of Cancer Signalling NetworkRECQL5
Wikipedia pathwaysRECQL5
Orthology - Evolution
OrthoDB9400
GeneTree (enSembl)ENSG00000108469
Phylogenetic Trees/Animal Genes : TreeFamRECQL5
HOVERGENO94762
HOGENOMO94762
Homologs : HomoloGeneRECQL5
Homology/Alignments : Family Browser (UCSC)RECQL5
Gene fusions - Rearrangements
Fusion : MitelmanRECQL5/SEC14L1 [17q25.1/17q25.2]  
Fusion : MitelmanRECQL5/WBP2 [17q25.1/17q25.1]  [t(17;17)(q25;q25)]  
Fusion: TCGARECQL5 17q25.1 SEC14L1 17q25.2 BRCA
Fusion: TCGARECQL5 17q25.1 WBP2 17q25.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRECQL5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RECQL5
dbVarRECQL5
ClinVarRECQL5
1000_GenomesRECQL5 
Exome Variant ServerRECQL5
ExAC (Exome Aggregation Consortium)RECQL5 (select the gene name)
Genetic variants : HAPMAP9400
Genomic Variants (DGV)RECQL5 [DGVbeta]
DECIPHERRECQL5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRECQL5 
Mutations
ICGC Data PortalRECQL5 
TCGA Data PortalRECQL5 
Broad Tumor PortalRECQL5
OASIS PortalRECQL5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRECQL5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRECQL5
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 RECQL5
DgiDB (Drug Gene Interaction Database)RECQL5
DoCM (Curated mutations)RECQL5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RECQL5 (select a term)
intoGenRECQL5
NCG5 (London)RECQL5
Cancer3DRECQL5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603781   
Orphanet
MedgenRECQL5
Genetic Testing Registry RECQL5
NextProtO94762 [Medical]
TSGene9400
GENETestsRECQL5
Target ValidationRECQL5
Huge Navigator RECQL5 [HugePedia]
snp3D : Map Gene to Disease9400
BioCentury BCIQRECQL5
ClinGenRECQL5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9400
Chemical/Pharm GKB GenePA34317
Clinical trialRECQL5
Miscellaneous
canSAR (ICR)RECQL5 (select the gene name)
Probes
Litterature
PubMed55 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRECQL5
EVEXRECQL5
GoPubMedRECQL5
iHOPRECQL5
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Jun 30 11:16:50 CEST 2017

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