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RECQL5 (RecQ protein-like 5)

Identity

HGNC (Hugo) RECQL5
LocusID (NCBI) 9400
Location 17q25.2-25.3
Location_base_pair Starts at 73645794 and ends at 73663269 bp from pter ( according to hg19-Feb_2009)  [Mapping]

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.

External links

Nomenclature
HGNC (Hugo)RECQL5   9950
Entrez_Gene (NCBI)RECQL5  9400  RecQ protein-like 5
Cards
AtlasRECQL5ID286
GeneCards (Weizmann)RECQL5
Ensembl (Hinxton)ENSG00000108469 [Gene_View]  chr17:73645794-73663269 [Contig_View]  RECQL5 [Vega]
AceView (NCBI)RECQL5
Genatlas (Paris)RECQL5
euGene (Indiana)9400
SOURCE (Stanford)NM_001003715 NM_001003716 NM_004259
Genomic and cartography
GoldenPath (UCSC)RECQL5  -     chr17:73645794-73663269 -  17q25   [Description]    (hg19-Feb_2009)
EnsemblRECQL5 - 17q25 [CytoView]
Mapping of homologs : NCBIRECQL5 [Mapview]
OMIM603781   
Gene and transcription
Genbank (Entrez)AB006533 AB042823 AB042824 AB042825 AF193041
RefSeq transcript (SRS)NM_001003715 NM_001003716 NM_004259
RefSeq transcript (Entrez)NM_001003715 NM_001003716 NM_004259
RefSeq genomic (SRS)AC_000149 NC_000017 NG_029617 NT_010783 NW_001838454
RefSeq genomic (Entrez)AC_000149 NC_000017 NG_029617 NT_010783 NW_001838454
Consensus coding sequences : CCDS (NCBI)RECQL5
Cluster EST : UnigeneHs.632229 [ SRS ] Hs.632229 [ NCBI ]
Alternative Splicing : Fast-db (Paris)14847
Alternative Splicing GalleryENSG00000108469
Gene ExpressionRECQL5 [ NCBI-GEO ]   RECQL5 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO94762 (SRS) O94762 (Uniprot)
With graphics : InterProO94762
Splice isoforms : SwissVarO94762(Swissvar)
Domaine pattern : Prosite (SRS)DEAH_ATP_HELICASE (PS00690)    HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)   
Domaine pattern : Prosite (Expaxy)DEAH_ATP_HELICASE (PS00690)    HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)   
Domains : Interpro (SRS)DNA/RNA_helicase_DEAD/DEAH_N    DNA/RNA_helicase_DEAH_CS    DNA_helicase_ATP-dep_RecQ    Helicase_ATP-bd    Helicase_C    RecQ_helicase-like_5   
Domains : Interpro (EBI)DNA/RNA_helicase_DEAD/DEAH_N    DNA/RNA_helicase_DEAH_CS    DNA_helicase_ATP-dep_RecQ    Helicase_ATP-bd    Helicase_C    RecQ_helicase-like_5   
Related proteins : CluSTrO94762
Domain families : Pfam (SRS)DEAD (PF00270)    Helicase_C (PF00271)    RecQ5 (PF06959)   
Domain families : Pfam (Sanger)DEAD (PF00270)    Helicase_C (PF00271)    RecQ5 (PF06959)   
Domain families : Pfam (NCBI)pfam00270    pfam00271    pfam06959   
Domain families : Smart (EMBL)DEXDc (SM00487)  HELICc (SM00490)  
Domain structure : Prodom (Prabi Lyon)RecQ_helicase-like_5 (PD120154)   
Blocks (Seattle)O94762
Human Protein AtlasENSG00000108469
HPRD04806
IPIIPI01015246   IPI00220819   IPI00220820   IPI00185769   IPI00855848   IPI01014741   
Protein Interaction databases
DIP (DOE-UCLA)O94762
IntAct (EBI)O94762
FunCoupENSG00000108469
REACTOMERECQL5
BioGRIDRECQL5
InParanoidO94762
Interologous Interaction database O94762
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)RECQL5
SNP (GeneSNP Utah)RECQL5
SNP : HGBaseRECQL5
Genetic variants : HAPMAPRECQL5
Somatic Mutations in Cancer : COSMICRECQL5 
CONAN: Copy Number AnalysisRECQL5 
Mutations and Diseases : HGMDRECQL5
OMIM603781   
GENETests603781   
Disease Genetic AssociationRECQL5
Huge Navigator RECQL5 [HugePedia]  RECQL5 [HugeCancerGEM]
Genomic VariantsRECQL5
snp3D : Map Gene to Disease9400
General knowledge
Homologs : HomoloGeneRECQL5
Homology/Alignments : Family Browser (UCSC)RECQL5
Phylogenetic Trees/Animal Genes : TreeFamRECQL5
Catalytic activity : Enzyme3.6.4.12 [ Enzyme-Expasy ]   3.6.4.12 [ Enzyme-SRS ]   3.6.4.12 [ IntEnz-EBI ]   3.6.4.12 [ BRENDA ]   3.6.4.12 [ KEGG ]   
Chemical/Protein Interactions : CTD9400
Chemical/Pharm GKB GenePA34317
Clinical trialRECQL5
Cancer Resource (Charite)ENSG00000108469
Ontology : AmiGOnucleotide binding  nucleic acid binding  DNA helicase activity  ATP binding  nucleus  nucleoplasm  nucleolus  cytoplasm  cytoplasm  DNA metabolic process  DNA repair  DNA recombination  ATP-dependent helicase activity  DNA-directed RNA polymerase II, holoenzyme  hydrolase activity  nuclear membrane  DNA duplex unwinding  DNA duplex unwinding  
Ontology : EGO-EBInucleotide binding  nucleic acid binding  DNA helicase activity  ATP binding  nucleus  nucleoplasm  nucleolus  cytoplasm  cytoplasm  DNA metabolic process  DNA repair  DNA recombination  ATP-dependent helicase activity  DNA-directed RNA polymerase II, holoenzyme  hydrolase activity  nuclear membrane  DNA duplex unwinding  DNA duplex unwinding  
Other databases
Probes
Probes : ImagenesRECQL5 Related clones (RZPD - Berlin)
Litterature
PubMed23 Pubmed reference(s) in Entrez
PubGeneRECQL5
iHOPRECQL5

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
 
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
 
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
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written04-2002Mounira Amor-Guéret

Citation

This paper should be referenced as such :
Amor-Guéret M . RECQL5 (RecQ protein-like 5). Atlas Genet Cytogenet Oncol Haematol. April 2002 .
URL : http://AtlasGeneticsOncology.org/Genes/RECQL5ID286.html

This paper is referenced by INIST as such :
http://documents.irevues.inist.fr/bitstream/2042/37868/1/04-2002-RECQL5ID286.pdf   [ Bibliographic record ]

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indexed on : Sat Apr 28 15:09:06 CEST 2012

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