RECQL4

Identity

Other names	RecQ4
	RTS
	RecQ protein like 4
	ATP-dependent DNA helicase Q4
HGNC	RECQL4
Location	8q24.3

DNA/RNA

Description	Spans 6,46 kb; 21 exons; helicase domain is encoded by exons from 8 to 14
Transcription	3,62 kb mRNA

Protein

Description	1208 aa; 13,3 kDa; belongs to the RecQ subfamily of helicases and contains from aa 476 to 824 an helicase domain with a potential ATP binding site from aa 502 to 509, and the DEAH box from aa 605 to 608
Expression	The RecQ4 gene is predominantly expressed in thymus and testis and at low levels in other organs such as heart, brain, placenta, pancreas, small intestine, and colon, indicating that the expression of RecQ4 gene is somewhat tissue-specific. The overall expression profile resembles that of the BLM gene. Interestingly, the expression of RecQ4 gene is partially upregulated in the G1/S phase of cell cycle.
Localisation	nuclear
Function	suppresses promiscuous genetic recombination and ensures accurate chromosome segregation.
Homology	WRN/RECQ3, BLM/RECQ2

Mutations

Germinal

See diagram of loss-of-function mutations in Rothmund-Thomson Syndrome patients

Implicated in

Entity	Rothmund-Thomson Syndrome
Disease	Autosomal recessive disorder associated with genomic instability, cancer predisposition and premature ageing.

External links

	Nomenclature
HGNC	RECQL4   9949
Entrez_Gene	RECQL4  9401  RecQ protein-like 4
	Cards
Atlas	RECQL4ID285
GeneCards	RECQL4
Ensembl	RECQL4 [Search_View]   ENSG00000160957 [Gene_View]
Genatlas	RECQL4
GeneLynx	RECQL4
eGenome	RECQL4
euGene	9401
	Genomic and cartography
GoldenPath	RECQL4  -  8q24.3   chr8:145707479-145714008 -  8q24.3   [Description]    (hg18-Mar_2006)
Ensembl	RECQL4 - 8q24.3 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	RECQL4
	Gene and transcription
Genbank	AB006532 [ ENTREZ ]
Genbank	BC011602 [ ENTREZ ]
Genbank	BC013277 [ ENTREZ ]
Genbank	BC020496 [ ENTREZ ]
Genbank	CN286060 [ ENTREZ ]
RefSeq	NM_004260 [ SRS ]    NM_004260 [ ENTREZ ]
RefSeq	AC_000051 [ SRS ]    AC_000051 [ ENTREZ ]
RefSeq	AC_000140 [ SRS ]    AC_000140 [ ENTREZ ]
RefSeq	NC_000008 [ SRS ]    NC_000008 [ ENTREZ ]
RefSeq	NT_037704 [ SRS ]    NT_037704 [ ENTREZ ]
RefSeq	NW_001839142 [ SRS ]    NW_001839142 [ ENTREZ ]
RefSeq	NW_924018 [ SRS ]    NW_924018 [ ENTREZ ]
AceView	RECQL4 AceView - NCBI
Unigene	Hs.31442 [ SRS ]    Hs.31442 [ NCBI ]     HS31442 [ spliceNest ]
Fast-db	9979 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	O94761 [ SRS]    O94761 [ EXPASY ]     O94761 [ INTERPRO ]     O94761 [ UNIPROT ]
Prosite	PS00690 DEAH_ATP_HELICASE [ SRS ]    PS00690 DEAH_ATP_HELICASE [ Expasy ]
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	IPR002464 DNA/RNA_helicase_DEAH_CS [ SRS ]    IPR002464 DNA/RNA_helicase_DEAH_CS [ 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 ]
Interpro	IPR001878 Znf_CCHC [ SRS ]    IPR001878 Znf_CCHC [ EBI ]
CluSTr	O94761
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]
Smart	SM00343 ZnF_C2HC [EMBL]
Blocks	O94761
HPRD	04805
	Protein Interaction databases
DIP	O94761
IntAct	O94761
	Polymorphism : SNP, mutations, diseases
OMIM	218600;266280;268400;603780    [ map ]
GENECLINICS	218600;266280;268400;603780
SNP	RECQL4 [dbSNP-NCBI]
SNP	NM_004260 [SNP-NCI]
SNP	RECQL4 [GeneSNPs - Utah]  RECQL4] [HGBASE - SRS]
HAPMAP	RECQL4 [HAPMAP]
COSMIC	RECQL4 [Somatic mutation (COSMIC-CGP-Sanger)]
HGMD	RECQL4
	General knowledge
Family Browser	RECQL4 [UCSC Family Browser]
SOURCE	NM_004260
SMD	Hs.31442
SAGE	Hs.31442
Enzyme	3.6.1.- [ Enzyme-Expasy ]   3.6.1.- [ Enzyme-SRS ]   3.6.1.- [ IntEnz-EBI ]   3.6.1.- [ BRENDA ]   3.6.1.- [ KEGG ]   3.6.1.- [ WIT ]
GO	nucleotide binding [Amigo]  nucleotide binding
GO	nucleic acid binding [Amigo]  nucleic acid binding
GO	DNA helicase activity [Amigo]  DNA helicase activity
GO	ATP binding [Amigo]  ATP binding
GO	nucleus [Amigo]  nucleus
GO	cytoplasm [Amigo]  cytoplasm
GO	DNA repair [Amigo]  DNA repair
GO	DNA recombination [Amigo]  DNA recombination
GO	multicellular organismal development [Amigo]  multicellular organismal development
GO	ATP-dependent helicase activity [Amigo]  ATP-dependent helicase activity
GO	zinc ion binding [Amigo]  zinc ion binding
GO	positive regulation of cell proliferation [Amigo]  positive regulation of cell proliferation
GO	hydrolase activity [Amigo]  hydrolase activity
GO	pigmentation [Amigo]  pigmentation
GO	negative regulation of sister chromatid cohesion [Amigo]  negative regulation of sister chromatid cohesion
GO	skeletal morphogenesis [Amigo]  skeletal morphogenesis
PubGene	RECQL4
TreeFam	RECQL4
CTD	9401 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	RECQL4 Related clones (RZPD - Berlin)
	PubMed
PubMed	30 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

Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome.

Kitao S, Shimamoto A, Goto M, Miller RW, Smithson WA, Lindor NM, Furuichi Y

Nature genetics. 1999 ; 22 (1) : 82-84.

PMID 10319867

Rothmund-thomson syndrome responsible gene, RECQL4: genomic structure and products.

Kitao S, Lindor NM, Shiratori M, Furuichi Y, Shimamoto A

Genomics. 1999 ; 61 (3) : 268-276.

PMID 10552928

RecQ family helicases: roles in cancer and aging.

Karow JK, Wu L, Hickson ID

Current opinion in genetics & development. 2000 ; 10 (1) : 32-38.

PMID 10679384

Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome.

Lindor NM, Furuichi Y, Kitao S, Shimamoto A, Arndt C, Jalal S

American journal of medical genetics. 2000 ; 90 (3) : 223-228.

PMID 10678659

DNA helicase deficiencies associated with cancer predisposition and premature ageing disorders.

Mohaghegh P, Hickson ID

Human molecular genetics. 2001 ; 10 (7) : 741-746.

PMID 11257107

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

Search in all EBI   NCBI

Contributor(s)

Written	10-2001	Alessandro Beghini

Citation

This paper should be referenced as such :

Beghini A . RECQL4. Atlas Genet Cytogenet Oncol Haematol. October 2001 . URL : http://AtlasGeneticsOncology.org/Genes/RECQL4ID285.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon Aug 11 21:17:06 2008