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

Gene ID: 7486, updated on 19-Jul-2016
Official Symbol
WRNprovided by HGNC
Official Full Name
Werner syndrome RecQ like helicaseprovided by HGNC
Primary source
HGNC:HGNC:12791
See related
Ensembl:ENSG00000165392 HPRD:05212; MIM:604611; Vega:OTTHUMG00000163894
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 and the DEAH (Asp-Glu-Ala-His) subfamily of DNA and RNA helicases. DNA helicases are involved in many aspects of DNA metabolism, including transcription, replication, recombination, and repair. This protein contains a nuclear localization signal in the C-terminus and shows a predominant nucleolar localization. It possesses an intrinsic 3' to 5' DNA helicase activity, and is also a 3' to 5' exonuclease. Based on interactions between this protein and Ku70/80 heterodimer in DNA end processing, this protein may be involved in the repair of double strand DNA breaks. Defects in this gene are the cause of Werner syndrome, an autosomal recessive disorder characterized by premature aging. [provided by RefSeq, Jul 2008]
Orthologs
Location:
8p12
Exon count:
37
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 8 NC_000008.11 (31033262..31173761)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (30890778..31031277)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene testis expressed 15 Neighboring gene uncharacterized LOC105379357 Neighboring gene lysophosphatidylglycerol acyltransferase 1 pseudogene 1 Neighboring gene purine rich element binding protein G Neighboring gene SUMO2 pseudogene 16 Neighboring gene uncharacterized LOC105379358 Neighboring gene potassium channel tetramerization domain containing 9 pseudogene 6

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

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

  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • DKFZp686C2056

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 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
 
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 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 
Y-form DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
bubble DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
chromatin binding IEA
Inferred from Electronic Annotation
more info
 
exonuclease activity IDA
Inferred from Direct Assay
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 IDA
Inferred from Direct Assay
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 complex binding IDA
Inferred from Direct Assay
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
DNA duplex unwinding IEA
Inferred from Electronic Annotation
more info
 
DNA metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
DNA replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA replication TAS
Traceable Author Statement
more info
 
DNA synthesis involved in DNA repair IDA
Inferred from Direct Assay
more info
PubMed 
DNA synthesis involved in DNA repair TAS
Traceable Author Statement
more info
 
aging NAS
Non-traceable Author Statement
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 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 IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to starvation IDA
Inferred from Direct Assay
more info
PubMed 
double-strand break repair IMP
Inferred from Mutant Phenotype
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
 
nucleolus to nucleoplasm transport IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of hydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein sumoylation TAS
Traceable Author Statement
more info
 
regulation of apoptotic process IGI
Inferred from Genetic Interaction
more info
PubMed 
regulation of growth rate IEA
Inferred from Electronic Annotation
more info
 
regulation of signal transduction by p53 class mediator TAS
Traceable Author Statement
more info
 
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 IEA
Inferred from Electronic Annotation
more info
 
response to UV-C IDA
Inferred from Direct Assay
more info
PubMed 
response to oxidative stress IDA
Inferred from Direct Assay
more info
PubMed 
strand displacement TAS
Traceable Author Statement
more info
 
telomere maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
telomere maintenance via recombination IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
colocalizes_with MutLalpha complex IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
neuron projection IEA
Inferred from Electronic Annotation
more info
 
nuclear chromosome, telomeric region IBA
Inferred from Biological aspect of Ancestor
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
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

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

  1. NG_008870.1 RefSeqGene

    Range
    5001..145500
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_524

mRNA and Protein(s)

  1. NM_000553.4NP_000544.2  Werner syndrome ATP-dependent helicase

    See identical proteins and their annotated locations for NP_000544.2

    Status: REVIEWED

    Source sequence(s)
    AB209652, AC084736, AF091214, BP279291
    Consensus CDS
    CCDS6082.1
    UniProtKB/Swiss-Prot
    Q14191
    UniProtKB/TrEMBL
    Q59F09
    Related
    ENSP00000298139, OTTHUMP00000225301, ENST00000298139, OTTHUMT00000376248
    Conserved Domains (7) summary
    smart00341
    Location:11561229
    HRDC; Helicase and RNase D C-terminal
    TIGR00614
    Location:5381010
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    cd06129
    Location:61229
    RNaseD_like; DEDDy 3'-5' exonuclease domain of RNase D, WRN, and similar proteins
    smart00956
    Location:9581051
    RQC; This DNA-binding domain is found in the RecQ helicase among others and has a helix-turn-helix structure
    cd00046
    Location:565705
    DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
    cd00079
    Location:759867
    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 ...
    pfam14493
    Location:12571352
    HTH_40; Helix-turn-helix domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p7 Primary Assembly

    Range
    31033262..31173761
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544639.2XP_011542941.1  

    See identical proteins and their annotated locations for XP_011542941.1

    Conserved Domains (7) summary
    smart00341
    Location:11291202
    HRDC; Helicase and RNase D C-terminal
    TIGR00614
    Location:511983
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    cd06129
    Location:61229
    RNaseD_like; DEDDy 3'-5' exonuclease domain of RNase D, WRN, and similar proteins
    smart00956
    Location:9311024
    RQC; This DNA-binding domain is found in the RecQ helicase among others and has a helix-turn-helix structure
    cd00046
    Location:538678
    DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
    cd00079
    Location:732840
    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 ...
    pfam14493
    Location:12301325
    HTH_40; Helix-turn-helix domain
  2. XM_011544640.1XP_011542942.1  

    Conserved Domains (6) summary
    smart00341
    Location:623696
    HRDC; Helicase and RNase D C-terminal
    TIGR00614
    Location:42477
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    smart00956
    Location:425518
    RQC; This DNA-binding domain is found in the RecQ helicase among others and has a helix-turn-helix structure
    cd00046
    Location:43172
    DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
    cd00079
    Location:226334
    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 ...
    pfam14493
    Location:724819
    HTH_40; Helix-turn-helix domain

RNA

  1. XR_949472.2 RNA Sequence

  2. XR_949471.2 RNA Sequence

  3. XR_949470.2 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 Alternate CHM1_1.1

    Range
    31092222..31232737
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)