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

    Gene ID: 7486, updated on 26-Jun-2015
    Official Symbol
    WRNprovided by HGNC
    Official Full Name
    Werner syndrome, RecQ helicase-likeprovided 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
    107 current GRCh38.p2 (GCF_000001405.28) 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 uncharacterized LOC105379359 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

    • 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...
    • Regulation of Telomerase, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of Telomerase, organism-specific biosystem
      Regulation of Telomerase
    • 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...
    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 IEA
    Inferred from Electronic Annotation
    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 
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA duplex unwinding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA duplex unwinding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    DNA metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA recombination IEA
    Inferred from Electronic Annotation
    more info
     
    DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    DNA synthesis involved in DNA repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    aging NAS
    Non-traceable Author Statement
    more info
    PubMed 
    base-excision repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell aging IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular protein metabolic process TAS
    Traceable Author Statement
    more info
     
    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 organismal aging IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nucleic acid phosphodiester bond hydrolysis IDA
    Inferred from Direct Assay
    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 
    post-translational protein modification TAS
    Traceable Author Statement
    more info
     
    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
     
    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 
    telomere maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 
    nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    Werner syndrome ATP-dependent helicase
    Names
    Werner syndrome ATP-dependent helicase
    DNA helicase, RecQ-like type 3
    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
      Werner_syndrome_ATP-dependent_helicase; 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 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p2 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011544639.1XP_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
      Werner_syndrome_ATP-dependent_helicase; 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_949472.1 RNA Sequence

    2. XR_949471.1 RNA Sequence

    3. XR_949470.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018919.2 Alternate CHM1_1.1

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