WRN Werner syndrome RecQ like helicase [Homo sapiens (human)] - Gene

Summary

Official Symbol: WRNprovided by HGNC
Official Full Name: Werner syndrome RecQ like helicaseprovided by HGNC
Primary source: HGNC:HGNC:12791
See related: Ensembl:ENSG00000165392 MIM:604611
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RECQ3; RECQL2; RECQL3
Summary: This gene encodes a member of the RecQ subfamily of DNA helicase proteins. The encoded nuclear protein is important in the maintenance of genome stability and plays a role in DNA repair, replication, transcription and telomere maintenance. This protein contains a N-terminal 3' to 5' exonuclease domain, an ATP-dependent helicase domain and RQC (RecQ helicase conserved region) domain in its central region, and a C-terminal HRDC (helicase RNase D C-terminal) domain and nuclear localization signal. Defects in this gene are the cause of Werner syndrome, an autosomal recessive disorder characterized by accelerated aging and an elevated risk for certain cancers. [provided by RefSeq, Aug 2017]
Expression: Ubiquitous expression in bone marrow (RPKM 5.0), endometrium (RPKM 4.7) and 25 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 8p12

Exon count:: 38

Annotation release	Status	Assembly	Chr	Location
109	current	GRCh38.p12 (GCF_000001405.38)	8	NC_000008.11 (31033262..31175871)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (30890778..31031277)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

results indicate that WRN helicase activity alone is not rate-limiting for the development of clinical Werner syndrome.
Title: Homozygosity for the WRN Helicase-Inactivating Variant, R834C, does not confer a Werner syndrome clinical phenotype.
The acidic domain of WRNp was shown to affect the transcription of certain proteins involved in autophagy and aging.
Title: Acidic domain of WRNp is critical for autophagy and up-regulates age associated proteins.
Data suggest that Werner syndrome helicase (WRN) promotes classical (c)-nonhomologous end joining (NHEJ) via helicase and exonuclease activities and inhibits alternative (alt)-NHEJ using non-enzymatic functions.
Title: WRN regulates pathway choice between classical and alternative non-homologous end joining.
A CDK1-dependent regulation of the WRN-DNA2-mediated resection and identify a new function of WRN as a DSB repair pathway switch are reported.
Title: CDK1 phosphorylates WRN at collapsed replication forks.
In the Title.
Title: WRN, the Werner Syndrome Gene, Exhibits Frameshift Mutations in Gastric and Colorectal Cancers.
Data show that helicases RHAU, BLM, and WRN exhibit distinct G-quadruplex (GQ) conformation specificity, but use a common mechanism of repetitive unfolding that leads to disrupting GQ structure multiple times in succession.
Title: Single-molecule imaging reveals a common mechanism shared by G-quadruplex-resolving helicases.
there was no consistent association between WRN promoter hypermethylation and loss of WRN expression at the mRNA or protein level in CRC cell lines or tumors.
Title: WRN Promoter CpG Island Hypermethylation Does Not Predict More Favorable Outcomes for Patients with Metastatic Colorectal Cancer Treated with Irinotecan-Based Therapy.
Low WRN expression is associated with aggressive tumor phenotype in breast cancer.
Title: Camptothecin targets WRN protein: mechanism and relevance in clinical breast cancer.
WRN is essential for survival of ATLL cells
Title: WRN-targeted therapy using inhibitors NSC 19630 and NSC 617145 induce apoptosis in HTLV-1-transformed adult T-cell leukemia cells.
The authors show that the helicase of hDNA2 functionally integrates with BLM or WRN helicases to promote double-stranded DNA degradation by forming a heterodimeric molecular machine. This collectively suggests that the human DNA2 motor promotes the enzyme's capacity to degrade double-stranded DNA in conjunction with BLM or WRN and thus promote the repair of broken DNA.
Title: Human DNA2 possesses a cryptic DNA unwinding activity that functionally integrates with BLM or WRN helicases.

Submit: New GeneRIF Correction See all GeneRIFs (216)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Werner syndrome MedGen: C0043119 OMIM: 277700 GeneReviews: Werner Syndrome	Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. NHGRI GWA Catalog NHGRI GWA CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Werner syndrome helicase co-localizes with Tat in central nervous system tissue (thalamus and basal ganglia)	PubMed
	tat	Werner syndrome helicase cooperates with HIV-1 Tat to transactivate the HIV-1 LTR. The helicase K577M mutant inhibits Tat-dependent LTR transactivation in a dose-dependent manner	PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

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Cell Cycle, organism-specific biosystem (from REACTOME)
Cell Cycle, organism-specific biosystem
Cell Cycle
Cell Cycle Checkpoints, organism-specific biosystem (from REACTOME)
Cell Cycle Checkpoints, organism-specific biosystemA hallmark of the human cell cycle in normal somatic cells is its precision. This remarkable fidelity is achieved by a number of signal transduction pathways, known as checkpoints, which monitor cell...
DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
DNA Repair, organism-specific biosystem (from REACTOME)
DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
G2/M Checkpoints, organism-specific biosystem (from REACTOME)
G2/M Checkpoints, organism-specific biosystemG2/M checkpoints include the checks for damaged DNA, unreplicated DNA, and checks that ensure that the genome is replicated once and only once per cell cycle. If cells pass these checkpoints, they f...
G2/M DNA damage checkpoint, organism-specific biosystem (from REACTOME)
G2/M DNA damage checkpoint, organism-specific biosystemThroughout the cell cycle, the genome is constantly monitored for damage, resulting either from errors of replication, by-products of metabolism or through extrinsic sources such as ultra-violet or i...
Gene Expression, organism-specific biosystem (from REACTOME)
Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) of replication-independent DNA double strand breaks (DSBs) via homologous recombination repair (HRR) or single strand annealing (SSA) requires the activation of ATM fol...
HDR through Homologous Recombination (HRR), organism-specific biosystem (from REACTOME)
HDR through Homologous Recombination (HRR), organism-specific biosystemHomology directed repair (HDR) through homologous recombination is known as homologous recombination repair (HRR). HRR occurs after extensive resection of DNA double strand break (DSB) ends, which cr...
HDR through Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
HDR through Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) through single strand annealing (SSA), similar to HDR through homologous recombination repair (HRR), involves extensive resection of DNA double strand break ends (DSBs)...
Homologous DNA Pairing and Strand Exchange, organism-specific biosystem (from REACTOME)
Homologous DNA Pairing and Strand Exchange, organism-specific biosystemThe presynaptic phase of homologous DNA pairing and strand exchange begins with the displacement of RPA from 3'-ssDNA overhangs created by extensive resection of DNA double strand break (DSB) ends. R...
Homology Directed Repair, organism-specific biosystem (from REACTOME)
Homology Directed Repair, organism-specific biosystemHomology directed repair (HDR) of DNA double strand breaks (DSBs) requires resection of DNA DSB ends. Resection creates 3'-ssDNA overhangs which then anneal with a homologous DNA sequence. This homol...
Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
Metabolism of proteins, organism-specific biosystem (from REACTOME)
Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
Post-translational protein modification, organism-specific biosystem (from REACTOME)
Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
Presynaptic phase of homologous DNA pairing and strand exchange, organism-specific biosystem (from REACTOME)
Presynaptic phase of homologous DNA pairing and strand exchange, organism-specific biosystemThe presynaptic phase of homologous DNA pairing and strand exchange during homologous recombination repair (HRR) begins with the displacement of RPA from ssDNA (Thompson and Limoli 2003) by the joint...
Processing of DNA double-strand break ends, organism-specific biosystem (from REACTOME)
Processing of DNA double-strand break ends, organism-specific biosystemHomology directed repair (HDR) through homologous recombination (HRR) or single strand annealing (SSA) requires extensive resection of DNA double strand break (DSB) ends (Thompson and Limoli 2003, Ci...
Regulation of TP53 Activity, organism-specific biosystem (from REACTOME)
Regulation of TP53 Activity, organism-specific biosystemProtein stability and transcriptional activity of TP53 (p53) tumor suppressor are regulated by post-translational modifications that include ubiquitination, phosphorylation, acetylation, methylation,...
Regulation of TP53 Activity through Phosphorylation, organism-specific biosystem (from REACTOME)
Regulation of TP53 Activity through Phosphorylation, organism-specific biosystemPhosphorylation of TP53 (p53) at the N-terminal serine residues S15 and S20 plays a critical role in protein stabilization as phosphorylation at these sites interferes with binding of the ubiquitin l...
Regulation of Telomerase, organism-specific biosystem (from Pathway Interaction Database)
Regulation of Telomerase, organism-specific biosystem
Regulation of Telomerase
Resolution of D-Loop Structures, organism-specific biosystem (from REACTOME)
Resolution of D-Loop Structures, organism-specific biosystemOnce repair synthesis has occurred, the D-loop structure may be resolved either through Holliday junction intermediates or through synthesis-dependent strand-annealing (SDSA) (Prado and Aguilera 2003...
Resolution of D-loop Structures through Holliday Junction Intermediates, organism-specific biosystem (from REACTOME)
Resolution of D-loop Structures through Holliday Junction Intermediates, organism-specific biosystemD-loops generated after strand invasion and DNA repair synthesis during homologous recombination repair (HRR) can be resolved through Holliday junction intermediates.A D-loop can be cleaved by the co...
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA), organism-specific biosystem (from REACTOME)
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA), organism-specific biosystemIn the synthesis-dependent strand-annealing (SDSA) model of D-loop resolution, D-loop strands extended by DNA repair synthesis dissociate from their sister chromatid complements and reanneal with the...
SUMO E3 ligases SUMOylate target proteins, organism-specific biosystem (from REACTOME)
SUMO E3 ligases SUMOylate target proteins, organism-specific biosystemSUMO proteins are conjugated to lysine residues of target proteins via an isopeptide bond with the C-terminal glycine of SUMO (reviewed in Zhao 2007, Gareau and Lima 2010, Hannoun et al. 2010, Citro ...
SUMOylation, organism-specific biosystem (from REACTOME)
SUMOylation, organism-specific biosystemSmall Ubiquitin-like MOdifiers (SUMOs) are a family of 3 proteins (SUMO1,2,3) that are reversibly conjugated to lysine residues of target proteins via a glycine-lysine isopeptide bond (reviewed in Ha...
SUMOylation of DNA damage response and repair proteins, organism-specific biosystem (from REACTOME)
SUMOylation of DNA damage response and repair proteins, organism-specific biosystemSeveral factors that participate in DNA damage response and repair are SUMOylated (reviewed in Dou et al. 2011, Bekker-Jensen and Mailand 2011, Ulrich 2012, Psakhye and Jentsch 2012, Bologna and Ferr...
Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH64913 (e-PCR)
- UniSTS:86304

PMC109206P1 (e-PCR)
- UniSTS:270155

WI-17945 (e-PCR)
- UniSTS:23392

SHGC-111489 (e-PCR)
- UniSTS:184679

SHGC-106496 (e-PCR)
- UniSTS:169897

D8S2234 (e-PCR)
- UniSTS:473787

D8S2233 (e-PCR)
- UniSTS:473788

csnpwrn-pcr13-1 (e-PCR)
- UniSTS:243166

csnpwrn-pcr14-1 (e-PCR)
- UniSTS:243167

csnpwrn-pcr15-1 (e-PCR)
- UniSTS:243168

csnpwrn-pcr18-1 (e-PCR)
- UniSTS:243169

csnpwrn-pcr2-1 (e-PCR)
- UniSTS:243170

csnpwrn-pcr20-1 (e-PCR)
- UniSTS:243171

csnpwrn-pcr21-1 (e-PCR)
- UniSTS:243172

csnpwrn-pcr22-1 (e-PCR)
- UniSTS:243173

csnpwrn-pcr23-1 (e-PCR)
- UniSTS:243174

csnpwrn-pcr25-1 (e-PCR)
- UniSTS:243175

csnpwrn-pcr26-1 (e-PCR)
- UniSTS:243176

csnpwrn-pcr27-1 (e-PCR)
- UniSTS:243177

csnpwrn-pcr29-1 (e-PCR)
- UniSTS:243178

csnpwrn-pcr30-1 (e-PCR)
- UniSTS:243179

csnpwrn-pcr31-1 (e-PCR)
- UniSTS:243180

csnpwrn-pcr34-1 (e-PCR)
- UniSTS:243181

csnpwrn-pcr4-1 (e-PCR)
- UniSTS:243182

PMC117198P1 (e-PCR)
- UniSTS:270319

csnpwrn-pcr5-1 (e-PCR)
- UniSTS:243183

csnpwrn-pcr6-1 (e-PCR)
- UniSTS:243184

csnpwrn-pcr7-1 (e-PCR)
- UniSTS:243185

G63421 (e-PCR)
- UniSTS:140533

SHGC-37564 (e-PCR)
- UniSTS:77823

Homology

Homologs of the WRN gene: The WRN gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, C.elegans, rice, and frog.
Orthologs from Annotation Pipeline: 227 organisms have orthologs with human gene WRN
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
3'-5' DNA helicase activity	IDA Inferred from Direct Assay more info	PubMed
3'-5' exonuclease activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
3'-5' exonuclease activity	IDA Inferred from Direct Assay more info	PubMed
3'-flap-structured DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
3'-flap-structured DNA binding	IDA Inferred from Direct Assay more info	PubMed
8-hydroxy-2'-deoxyguanosine DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
8-hydroxy-2'-deoxyguanosine DNA binding	IDA Inferred from Direct Assay more info	PubMed
ATP binding	IEA Inferred from Electronic Annotation more info
ATP-dependent 3'-5' DNA helicase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
ATP-dependent DNA helicase activity	IDA Inferred from Direct Assay more info	PubMed
ATPase activity	IDA Inferred from Direct Assay more info	PubMed
DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
DNA binding	IDA Inferred from Direct Assay more info	PubMed
DNA helicase activity	IDA Inferred from Direct Assay more info	PubMed
DNA helicase activity	IMP Inferred from Mutant Phenotype more info	PubMed
G-quadruplex DNA binding	IDA Inferred from Direct Assay more info	PubMed
MutLalpha complex binding	IDA Inferred from Direct Assay more info	PubMed
Y-form DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
Y-form DNA binding	IDA Inferred from Direct Assay more info	PubMed
bubble DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
bubble DNA binding	IDA Inferred from Direct Assay more info	PubMed
chromatin binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
exonuclease activity	IDA Inferred from Direct Assay more info	PubMed
exonuclease activity	IMP Inferred from Mutant Phenotype more info	PubMed
forked DNA-dependent helicase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
forked DNA-dependent helicase activity	IDA Inferred from Direct Assay more info	PubMed
four-way junction DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
four-way junction DNA binding	IDA Inferred from Direct Assay more info	PubMed
four-way junction helicase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
four-way junction helicase activity	IDA Inferred from Direct Assay more info	PubMed
helicase activity	IDA Inferred from Direct Assay more info	PubMed
magnesium ion binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
magnesium ion binding	IDA Inferred from Direct Assay more info	PubMed
manganese ion binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
manganese ion binding	IDA Inferred from Direct Assay more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein homodimerization activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
protein-containing complex binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
protein-containing complex binding	IDA Inferred from Direct Assay more info	PubMed
telomeric D-loop binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
telomeric D-loop binding	IDA Inferred from Direct Assay more info	PubMed
telomeric G-quadruplex DNA binding	IC Inferred by Curator more info	PubMed

Process	Evidence Code	Pubs
DNA duplex unwinding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
DNA duplex unwinding	IDA Inferred from Direct Assay more info	PubMed
DNA metabolic process	IDA Inferred from Direct Assay more info	PubMed
DNA recombination	IBA Inferred from Biological aspect of Ancestor more info	PubMed
DNA repair	IBA Inferred from Biological aspect of Ancestor more info	PubMed
DNA replication	IMP Inferred from Mutant Phenotype more info	PubMed
DNA replication	ISS Inferred from Sequence or Structural Similarity more info
DNA replication	TAS Traceable Author Statement more info
DNA synthesis involved in DNA repair	IBA Inferred from Biological aspect of Ancestor more info	PubMed
DNA synthesis involved in DNA repair	IDA Inferred from Direct Assay more info	PubMed
G-quadruplex DNA unwinding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
G-quadruplex DNA unwinding	IDA Inferred from Direct Assay more info	PubMed
G-quadruplex DNA unwinding	ISS Inferred from Sequence or Structural Similarity more info
aging	NAS Non-traceable Author Statement more info	PubMed
base-excision repair	IBA Inferred from Biological aspect of Ancestor more info	PubMed
base-excision repair	IDA Inferred from Direct Assay more info	PubMed
brain development	IEA Inferred from Electronic Annotation more info
cell aging	IBA Inferred from Biological aspect of Ancestor more info	PubMed
cell aging	IMP Inferred from Mutant Phenotype more info	PubMed
cellular response to DNA damage stimulus	IDA Inferred from Direct Assay more info	PubMed
cellular response to gamma radiation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
cellular response to gamma radiation	IDA Inferred from Direct Assay more info	PubMed
cellular response to starvation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
cellular response to starvation	IDA Inferred from Direct Assay more info	PubMed
determination of adult lifespan	IBA Inferred from Biological aspect of Ancestor more info	PubMed
double-strand break repair	IMP Inferred from Mutant Phenotype more info	PubMed
double-strand break repair via homologous recombination	IBA Inferred from Biological aspect of Ancestor more info	PubMed
multicellular organism aging	IBA Inferred from Biological aspect of Ancestor more info	PubMed
multicellular organism aging	IMP Inferred from Mutant Phenotype more info	PubMed
nucleic acid phosphodiester bond hydrolysis	IEA Inferred from Electronic Annotation more info
positive regulation of hydrolase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
positive regulation of hydrolase activity	IDA Inferred from Direct Assay more info	PubMed
positive regulation of strand invasion	IBA Inferred from Biological aspect of Ancestor more info	PubMed
positive regulation of strand invasion	IDA Inferred from Direct Assay more info	PubMed
protein localization to nucleolus	IDA Inferred from Direct Assay more info	PubMed
regulation of apoptotic process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
regulation of apoptotic process	IGI Inferred from Genetic Interaction more info	PubMed
regulation of growth rate	IEA Inferred from Electronic Annotation more info
replication fork processing	IBA Inferred from Biological aspect of Ancestor more info	PubMed
replication fork processing	IDA Inferred from Direct Assay more info	PubMed
replication fork processing	IMP Inferred from Mutant Phenotype more info	PubMed
replicative cell aging	IBA Inferred from Biological aspect of Ancestor more info	PubMed
response to UV-C	IBA Inferred from Biological aspect of Ancestor more info	PubMed
response to UV-C	IDA Inferred from Direct Assay more info	PubMed
response to oxidative stress	IBA Inferred from Biological aspect of Ancestor more info	PubMed
response to oxidative stress	IDA Inferred from Direct Assay more info	PubMed
t-circle formation	TAS Traceable Author Statement more info	PubMed
telomere maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
telomere maintenance	TAS Traceable Author Statement more info	PubMed
telomeric D-loop disassembly	IBA Inferred from Biological aspect of Ancestor more info	PubMed
telomeric D-loop disassembly	IDA Inferred from Direct Assay more info	PubMed
telomeric D-loop disassembly	IGI Inferred from Genetic Interaction more info	PubMed
telomeric D-loop disassembly	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
colocalizes_with DNA replication factor A complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed
centrosome	IBA Inferred from Biological aspect of Ancestor more info	PubMed
centrosome	IDA Inferred from Direct Assay more info	PubMed
chromosome	IBA Inferred from Biological aspect of Ancestor more info	PubMed
chromosome, telomeric region	IBA Inferred from Biological aspect of Ancestor more info	PubMed
chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IBA Inferred from Biological aspect of Ancestor more info	PubMed
neuron projection	IEA Inferred from Electronic Annotation more info
nuclear speck	IDA Inferred from Direct Assay more info
nucleolus	IDA Inferred from Direct Assay more info	PubMed
nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info	PubMed
nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
nucleoplasm	TAS Traceable Author Statement more info
nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
colocalizes_with replication fork	IBA Inferred from Biological aspect of Ancestor more info	PubMed
replication fork	ISS Inferred from Sequence or Structural Similarity more info
site of double-strand break	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

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Preferred Names: Werner syndrome ATP-dependent helicase

Names: DNA helicase, RecQ-like type 3; Werner syndrome, RecQ helicase-like; exonuclease WRN; recQ protein-like 2

NP_000544.2

EC 3.6.4.12

XP_011542941.1

EC 3.6.4.12

XP_011542942.1

EC 3.6.4.12

XP_024303033.1

EC 3.6.4.12

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008870.1 RefSeqGene

Range

5001..145500

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_524

mRNA and Protein(s)

NM_000553.5 → NP_000544.2 Werner syndrome ATP-dependent helicase

See identical proteins and their annotated locations for NP_000544.2

Status: REVIEWED

Source sequence(s)

AB209652, AC009563, AC084736, AF091214, BP279291

Consensus CDS

CCDS6082.1

UniProtKB/Swiss-Prot

Q14191

Related

ENSP00000298139.5, ENST00000298139.5

Conserved Domains (8) summary

smart00341
Location:1156 → 1229

HRDC; Helicase and RNase D C-terminal

TIGR00614
Location:538 → 1010

recQ_fam; ATP-dependent DNA helicase, RecQ family

cd06129
Location:61 → 229

RNaseD_like; DEDDy 3'-5' exonuclease domain of RNase D, WRN, and similar proteins

smart00956
Location:958 → 1051

RQC; This DNA-binding domain is found in the RecQ helicase among others and has a helix-turn-helix structure

cd00079
Location:759 → 867

HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...

pfam00270
Location:551 → 712

DEAD; DEAD/DEAH box helicase

pfam14493
Location:1261 → 1351

HTH_40; Helix-turn-helix domain

pfam16124
Location:872 → 939

RecQ_Zn_bind; RecQ zinc-binding

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p12 Primary Assembly

Range

31033262..31175871

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011544639.3 → XP_011542941.1 Werner syndrome ATP-dependent helicase isoform X1

See identical proteins and their annotated locations for XP_011542941.1

Conserved Domains (8) summary

smart00341
Location:1129 → 1202

HRDC; Helicase and RNase D C-terminal

TIGR00614
Location:511 → 983

recQ_fam; ATP-dependent DNA helicase, RecQ family

cd06129
Location:61 → 229

RNaseD_like; DEDDy 3'-5' exonuclease domain of RNase D, WRN, and similar proteins

smart00956
Location:931 → 1024

RQC; This DNA-binding domain is found in the RecQ helicase among others and has a helix-turn-helix structure

cd00079
Location:732 → 840

HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...

pfam00270
Location:524 → 685

DEAD; DEAD/DEAH box helicase

pfam14493
Location:1234 → 1324

HTH_40; Helix-turn-helix domain

pfam16124
Location:845 → 912

RecQ_Zn_bind; RecQ zinc-binding
XM_024447265.1 → XP_024303033.1 Werner syndrome ATP-dependent helicase isoform X2

Conserved Domains (5) summary

smart00341
Location:1086 → 1159

HRDC; Helicase and RNase D C-terminal

TIGR00614
Location:468 → 940

recQ_fam; ATP-dependent DNA helicase, RecQ family

cd06129
Location:4 → 159

RNaseD_like; DEDDy 3'-5' exonuclease domain of RNase D, WRN, and similar proteins

pfam14493
Location:1188 → 1282

HTH_40; Helix-turn-helix domain

cl28246
Location:86 → 410

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
XM_011544640.1 → XP_011542942.1 Werner syndrome ATP-dependent helicase isoform X3

Conserved Domains (7) summary

smart00341
Location:623 → 696

HRDC; Helicase and RNase D C-terminal

TIGR00614
Location:42 → 477

recQ_fam; ATP-dependent DNA helicase, RecQ family

smart00956
Location:425 → 518

RQC; This DNA-binding domain is found in the RecQ helicase among others and has a helix-turn-helix structure

cd00079
Location:226 → 334

HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...

pfam00270
Location:42 → 179

DEAD; DEAD/DEAH box helicase

pfam14493
Location:728 → 818

HTH_40; Helix-turn-helix domain

pfam16124
Location:339 → 406

RecQ_Zn_bind; RecQ zinc-binding