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RECQL5 RecQ protein-like 5

Identity

HGNC (Hugo) RECQL5
Location 17q25.2-25.3
Location_base_pair Starts at 73646445 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]  RECQL5 [Vega]
AceView (NCBI)RECQL5
Genatlas (Paris)RECQL5
euGene (Indiana)9400
SOURCE (Stanford)NM_001003715 NM_001003716 NM_004259
Gene Expression (Array Express) ENSG00000108469
Genomic and cartography
GoldenPath (UCSC)RECQL5  -     chr17:73646445-73663269 -  17q25.2-q25.3   [Description]    (hg19-Feb_2009)
EnsemblRECQL5 - 17q25.2-q25.3 [CytoView]
Mapping of homologs : NCBIRECQL5 [Mapview]
OMIM603781   
Gene and transcription
Gene : Genbank (Entrez)AB006533 AB042823 AB042824 AB042825 AF193041
Reference sequence (RefSeq transcript) :SRSNM_001003715 NM_001003716 NM_004259
Reference transcript : EntrezNM_001003715 NM_001003716 NM_004259
RefSeq genomic : SRSAC_000060 AC_000149 NC_000017 NT_010783 NW_001838454 NW_926918
RefSeq genomic : EntrezAC_000060 AC_000149 NC_000017 NT_010783 NW_001838454 NW_926918
Consensus coding sequences : CCDS NCBIRECQL5
Cluster EST : UnigeneHs.632229 [ SRS ] Hs.632229 [ NCBI ]
Alternative Splicing : Fast-db (Paris)14847
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtO94762 (SRS) O94762 (Expasy) O94762 (Uniprot)
With graphics : InterProO94762
Splice isoforms : VarSplice FASTAO94762(VarSplice FASTA)
Domaine pattern : Prosite (SRS)DEAH_ATP_HELICASE (PS00690)    HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)   
Domain pattern : Prosite (Expaxy)DEAH_ATP_HELICASE (PS00690)    HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)   
Domains : Interpro (SRS)DEAD-like_N    DNA/RNA_helicase_C    DNA/RNA_helicase_DEAD/DEAH_N    DNA/RNA_helicase_DEAH_CS    DNA_helicase_ATP-dep_RecQ    DNA_helicase_ATP-dep_RecQ_N    Helicase_SF1/SF2_ATP-bd    RecQ_helicase-like_5   
Domains : Interpro (EBI)DEAD-like_N    DNA/RNA_helicase_C    DNA/RNA_helicase_DEAD/DEAH_N    DNA/RNA_helicase_DEAH_CS    DNA_helicase_ATP-dep_RecQ    DNA_helicase_ATP-dep_RecQ_N    Helicase_SF1/SF2_ATP-bd    RecQ_helicase-like_5   
Related proteins : CluSTrO94762
Domain families : Pfam SRSDEAD (PF00270)    Helicase_C (PF00271)    RecQ5 (PF06959)   
Domain families : Pfam SangerDEAD (PF00270)    Helicase_C (PF00271)    RecQ5 (PF06959)   
Domain families : Pfam NCBIpfam00270    pfam00271    pfam06959   
Domain families : Smart EMBLDEXDc (SM00487)  HELICc (SM00490)  
Domain structure : Prodom (Prabi Lyon)RecQ_helicase-like_5 (PD120154)   
Blocks (Seattle)O94762
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
Human Protein AtlasENSG00000108469
HPRD04806
Protein Interaction databases
DIP (DOE-UCLA)O94762
IntAct (EBI)O94762
FunCoupENSG00000108469
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIRECQL5
SNP : GeneSNP UtahRECQL5
SNP : HGBaseRECQL5
Genetic variants : HAPMAPRECQL5
Somatic Mutations in Cancer : COSMICRECQL5 
Mutations and Diseases : HGMDRECQL5
Hereditary diseases : OMIM603781   
Hereditary diseases : GENETests603781   
Diseases : Genetic AssociationRECQL5
General knowledge
Homologs : HomoloGeneRECQL5
Homology/Alignments : Family Browser UCSCRECQL5
Phylogenetic Trees/Animal Genes : TreeFamRECQL5
Catalytic activity : Enzyme3.6.1.- [ Enzyme-Expasy ]   3.6.1.- [ Enzyme-SRS ]   3.6.1.- [ IntEnz-EBI ]   3.6.1.- [ BRENDA ]   3.6.1.- [ KEGG ]   
Chemical/Protein Interactions : CTD9400
Keywords Ontology : AmiGOnucleotide binding  nucleic acid binding  DNA helicase activity  ATP binding  nucleus  nucleoplasm  cytoplasm  DNA metabolic process  DNA repair  DNA recombination  ATP-dependent helicase activity  hydrolase activity  
Keywords Ontology : EGO-EBInucleotide binding  nucleic acid binding  DNA helicase activity  ATP binding  nucleus  nucleoplasm  cytoplasm  DNA metabolic process  DNA repair  DNA recombination  ATP-dependent helicase activity  hydrolase activity  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
Probes : ImagenesRECQL5 Related clones (RZPD - Berlin)
Literature
PubMed15 Pubmed reference(s) in Entrez
PubGeneRECQL5

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

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Jul 15 14:49:56 CEST 2010

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