Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

RECQL5

Identity

Hugo RECQL5
Location 17q25.2-25.3

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
HugoRECQL5
GDBRECQL5
Entrez_GeneRECQL5  9400  RecQ protein-like 5
Cards
AtlasRECQL5ID286
GeneCardsRECQL5
EnsemblRECQL5 [Search_View]   ENSG00000108469 [Gene_View]
GenatlasRECQL5
GeneLynxRECQL5
eGenomeRECQL5
euGene9400
Genomic and cartography
GoldenPathRECQL5  -     chr17:71156540-71174864 -  17q25.2-q25.3   [Description]    (hg18-Mar_2006)
EnsemblRECQL5 - 17q25.2-q25.3 [CytoView]
NCBIMapview
OMIMDisease map [OMIM]
HomoloGeneRECQL5
Gene and transcription
GenbankAB006533 [ ENTREZ ]
GenbankAB042823 [ ENTREZ ]
GenbankAB042824 [ ENTREZ ]
GenbankAB042825 [ ENTREZ ]
GenbankAF193041 [ ENTREZ ]
RefSeqNM_001003715 [ SRS ]    NM_001003715 [ ENTREZ ]
RefSeqNM_001003716 [ SRS ]    NM_001003716 [ ENTREZ ]
RefSeqNM_004259 [ SRS ]    NM_004259 [ ENTREZ ]
RefSeqAC_000060 [ SRS ]    AC_000060 [ ENTREZ ]
RefSeqNC_000017 [ SRS ]    NC_000017 [ ENTREZ ]
RefSeqNT_010641 [ SRS ]    NT_010641 [ ENTREZ ]
RefSeqNW_926918 [ SRS ]    NW_926918 [ ENTREZ ]
AceViewRECQL5 AceView - NCBI
UnigeneHs.632229 [ SRS ]    Hs.632229 [ NCBI ]     HS632229 [ spliceNest ]
Fast-db14847 (alternative variants)
Protein : pattern, domain, 3D structure
SwissProtO94762 [ SRS]    O94762 [ EXPASY ]     O94762 [ INTERPRO ]
PrositePS00690 DEAH_ATP_HELICASE [ SRS ]    PS00690 DEAH_ATP_HELICASE [ Expasy ]
PrositePS51192 HELICASE_ATP_BIND_1 [ SRS ]    PS51192 HELICASE_ATP_BIND_1 [ Expasy ]
PrositePS51194 HELICASE_CTER [ SRS ]    PS51194 HELICASE_CTER [ Expasy ]
InterproIPR014001 DEAD-like_N [ SRS ]    IPR014001 DEAD-like_N [ EBI ]
InterproIPR001650 DNA/RNA_helicase_C [ SRS ]    IPR001650 DNA/RNA_helicase_C [ EBI ]
InterproIPR011545 DNA/RNA_helicase_DEAD/DEAH_N [ SRS ]    IPR011545 DNA/RNA_helicase_DEAD/DEAH_N [ EBI ]
InterproIPR002464 DNA/RNA_helicase_DEAH_CS [ SRS ]    IPR002464 DNA/RNA_helicase_DEAH_CS [ EBI ]
InterproIPR004589 DNA_helicase_ATP-dep_RecQ [ SRS ]    IPR004589 DNA_helicase_ATP-dep_RecQ [ EBI ]
InterproIPR014021 Helicase_SF1/SF2_ATP-bd [ SRS ]    IPR014021 Helicase_SF1/SF2_ATP-bd [ EBI ]
InterproIPR010716 RecQ_helicase-like_5 [ SRS ]    IPR010716 RecQ_helicase-like_5 [ EBI ]
CluSTrO94762
PfamPF00270 DEAD [ SRS ]    PF00270 DEAD [ Sanger ]    pfam00270 [ NCBI-CDD ]
PfamPF00271 Helicase_C [ SRS ]    PF00271 Helicase_C [ Sanger ]    pfam00271 [ NCBI-CDD ]
PfamPF06959 RecQ5 [ SRS ]    PF06959 RecQ5 [ Sanger ]    pfam06959 [ NCBI-CDD ]
SmartSM00487 DEXDc [EMBL]
SmartSM00490 HELICc [EMBL]
BlocksO94762
HPRD04806
Protein Interaction databases
DIPO94762
IntActO94762
Polymorphism : SNP, mutations, diseases
OMIM603781    [ map ]   
GENECLINICS603781
SNPRECQL5 [dbSNP-NCBI]  
SNPNM_001003715 [SNP-NCI]  
SNPNM_001003716 [SNP-NCI]  
SNPNM_004259 [SNP-NCI]  
SNPRECQL5 [GeneSNPs - Utah]  RECQL5] [HGBASE - SRS]
HAPMAPRECQL5 [HAPMAP]  
COSMICRECQL5 [Somatic mutation (COSMIC-CGP-Sanger)]  
HGMDRECQL5
General knowledge
Family BrowserRECQL5 [UCSC Family Browser]
SOURCENM_001003715
SOURCENM_001003716
SOURCENM_004259
SMDHs.632229
SAGEHs.632229
Enzyme3.6.1.- [ Enzyme-SRS ]   3.6.1.- [ Brenda-SRS ]   3.6.1.- [ KEGG ]   3.6.1.- [ WIT ]
GOnucleotide binding [Amigo]  nucleotide binding
GOnucleic acid binding [Amigo]  nucleic acid binding
GODNA helicase activity [Amigo]  DNA helicase activity
GOATP binding [Amigo]  ATP binding
GOnucleus [Amigo]  nucleus
GOnucleoplasm [Amigo]  nucleoplasm
GOcytoplasm [Amigo]  cytoplasm
GODNA repair [Amigo]  DNA repair
GODNA recombination [Amigo]  DNA recombination
GOATP-dependent helicase activity [Amigo]  ATP-dependent helicase activity
GOhydrolase activity [Amigo]  hydrolase activity
PubGeneRECQL5
TreeFamRECQL5
CTD9400 [Comparative ToxicoGenomics Database]
Other databases
Probes
ProbeRECQL5 Related clones (RZPD - Berlin)
PubMed
PubMed10 Pubmed reference(s) in LocusLink

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

Search in all EBI   NCBI

Contributor(s)

Written04-2002Mounira Amor-Guéret

Citation

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

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jul 2 08:26:42 2008


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

j.l.huret@chu-poitiers.fr.