RECQL

Identity

Hugo	RECQL
Location	12p12-p11

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.

External links

	Nomenclature
Hugo	RECQL
GDB	RECQL
Entrez_Gene	RECQL  5965  RecQ protein-like (DNA helicase Q1-like)
	Cards
Atlas	RECQLID283
GeneCards	RECQL
Ensembl	RECQL [Search_View]   ENSG00000004700 [Gene_View]
Genatlas	RECQL
GeneLynx	RECQL
eGenome	RECQL
euGene	5965
	Genomic and cartography
GoldenPath	RECQL  -     chr12:21514354-21545796 -  12p12   [Description]    (hg18-Mar_2006)
Ensembl	RECQL - 12p12 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	RECQL
	Gene and transcription
Genbank	AK291627 [ ENTREZ ]
Genbank	AV718094 [ ENTREZ ]
Genbank	AY157499 [ ENTREZ ]
Genbank	BC001052 [ ENTREZ ]
Genbank	BE794392 [ ENTREZ ]
RefSeq	NM_002907 [ SRS ]    NM_002907 [ ENTREZ ]
RefSeq	NM_032941 [ SRS ]    NM_032941 [ ENTREZ ]
RefSeq	AC_000055 [ SRS ]    AC_000055 [ ENTREZ ]
RefSeq	NC_000012 [ SRS ]    NC_000012 [ ENTREZ ]
RefSeq	NT_009714 [ SRS ]    NT_009714 [ ENTREZ ]
RefSeq	NW_925328 [ SRS ]    NW_925328 [ ENTREZ ]
AceView	RECQL AceView - NCBI
Unigene	Hs.235069 [ SRS ]    Hs.235069 [ NCBI ]     HS235069 [ spliceNest ]
Fast-db	3751 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	P46063 [ SRS]    P46063 [ EXPASY ]     P46063 [ INTERPRO ]
Prosite	PS51192 HELICASE_ATP_BIND_1 [ SRS ]    PS51192 HELICASE_ATP_BIND_1 [ Expasy ]
Prosite	PS51194 HELICASE_CTER [ SRS ]    PS51194 HELICASE_CTER [ Expasy ]
Interpro	IPR014001 DEAD-like_N [ SRS ]    IPR014001 DEAD-like_N [ EBI ]
Interpro	IPR001650 DNA/RNA_helicase_C [ SRS ]    IPR001650 DNA/RNA_helicase_C [ EBI ]
Interpro	IPR011545 DNA/RNA_helicase_DEAD/DEAH_N [ SRS ]    IPR011545 DNA/RNA_helicase_DEAD/DEAH_N [ EBI ]
Interpro	IPR004589 DNA_helicase_ATP-dep_RecQ [ SRS ]    IPR004589 DNA_helicase_ATP-dep_RecQ [ EBI ]
Interpro	IPR014021 Helicase_SF1/SF2_ATP-bd [ SRS ]    IPR014021 Helicase_SF1/SF2_ATP-bd [ EBI ]
CluSTr	P46063
Pfam	PF00270 DEAD [ SRS ]    PF00270 DEAD [ Sanger ]    pfam00270 [ NCBI-CDD ]
Pfam	PF00271 Helicase_C [ SRS ]    PF00271 Helicase_C [ Sanger ]    pfam00271 [ NCBI-CDD ]
Smart	SM00487 DEXDc [EMBL]
Smart	SM00490 HELICc [EMBL]
Blocks	P46063
PDB	2V1X [ SRS ]    2V1X [ PdbSum ],   2V1X [ IMB ]   2V1X [ RSDB ]
HPRD	02762
	Protein Interaction databases
DIP	P46063
IntAct	P46063
	Polymorphism : SNP, mutations, diseases
OMIM	600537    [ map ]
GENECLINICS	600537
SNP	RECQL [dbSNP-NCBI]
SNP	NM_002907 [SNP-NCI]
SNP	NM_032941 [SNP-NCI]
SNP	RECQL [GeneSNPs - Utah]  RECQL] [HGBASE - SRS]
HAPMAP	RECQL [HAPMAP]
COSMIC	RECQL [Somatic mutation (COSMIC-CGP-Sanger)]
HGMD	RECQL
	General knowledge
Family Browser	RECQL [UCSC Family Browser]
SOURCE	NM_002907
SOURCE	NM_032941
SMD	Hs.235069
SAGE	Hs.235069
Enzyme	3.6.1.- [ Enzyme-SRS ]   3.6.1.- [ Brenda-SRS ]   3.6.1.- [ KEGG ]   3.6.1.- [ WIT ]
GO	nucleotide binding [Amigo]  nucleotide binding
GO	DNA binding [Amigo]  DNA binding
GO	ATP-dependent DNA helicase activity [Amigo]  ATP-dependent DNA helicase activity
GO	protein binding [Amigo]  protein binding
GO	ATP binding [Amigo]  ATP binding
GO	nucleus [Amigo]  nucleus
GO	DNA repair [Amigo]  DNA repair
GO	DNA recombination [Amigo]  DNA recombination
GO	hydrolase activity [Amigo]  hydrolase activity
PubGene	RECQL
TreeFam	RECQL
CTD	5965 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	RECQL Related clones (RZPD - Berlin)
	PubMed
PubMed	16 Pubmed reference(s) in LocusLink

Bibliography

Cloning and characterization of RECQL, a potential human homologue of the Escherichia coli DNA helicase RecQ.

Puranam KL, Blackshear PJ

The Journal of biological chemistry. 1994 ; 269 (47) : 29838-29845.

PMID 7961977

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

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 a splicing variant of human RECQL helicase.

Zhang AH, Xi X

Biochemical and biophysical research communications. 2002 ; 298 (5) : 789-792.

PMID 12419324

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

REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	01-2003	Mounira Amor-Guéret

Citation

This paper should be referenced as such :

Amor-Guéret M . RECQL. Atlas Genet Cytogenet Oncol Haematol. January 2003 . URL : http://AtlasGeneticsOncology.org/Genes/RECQLID283.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Wed Jul 2 08:26:42 2008