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

    Gene ID: 7486, updated on 17-Jun-2024

    Summary

    Official Symbol
    WRNprovided by HGNC
    Official Full Name
    WRN RecQ like helicaseprovided by HGNC
    Primary source
    HGNC:HGNC:12791
    See related
    Ensembl:ENSG00000165392 MIM:604611; AllianceGenome:HGNC:12791
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See WRN in Genome Data Viewer
    Location:
    8p12
    Exon count:
    37
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (31033810..31176138)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (31314935..31457266)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (30891326..31033654)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene lysophosphatidylglycerol acyltransferase 1 pseudogene 1 Neighboring gene MPRA-validated peak6979 silencer Neighboring gene purine rich element binding protein G Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19091 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:30891079-30891600 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19093 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27216 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:30914375-30914876 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:30914877-30915376 Neighboring gene SUMO2 pseudogene 16 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:31029565-31030764 Neighboring gene uncharacterized LOC105379358 Neighboring gene potassium channel tetramerization domain containing 9 pseudogene 6

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

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

    EBI GWAS Catalog

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

    HIV-1 interactions

    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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp686C2056

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3'-5' DNA helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables 3'-5' DNA helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables 3'-5' DNA helicase activity TAS
    Traceable Author Statement
    more info
     
    enables 3'-5' exonuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables 3'-flap-structured DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables 8-hydroxy-2'-deoxyguanosine DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA helicase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables G-quadruplex DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables MutLalpha complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables Y-form DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables bubble DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables exonuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables exonuclease activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables forked DNA-dependent helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables four-way junction DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables four-way junction helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables four-way junction helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables isomerase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables magnesium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables manganese ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein-containing complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables telomeric D-loop binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables telomeric G-quadruplex DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in DNA duplex unwinding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in DNA metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in DNA replication ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in DNA synthesis involved in DNA repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in DNA unwinding involved in DNA replication IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in G-quadruplex DNA unwinding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in G-quadruplex DNA unwinding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in G-quadruplex DNA unwinding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in base-excision repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to gamma radiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within cellular response to starvation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular senescence IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in determination of adult lifespan IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in double-strand break repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of hydrolase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of strand invasion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within protein localization to nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of growth rate IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in replication fork processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in replication fork processing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in replicative senescence IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to UV-C IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to oxidative stress IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in t-circle formation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in telomere maintenance IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in telomere maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in telomere maintenance TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in telomere maintenance via semi-conservative replication TAS
    Traceable Author Statement
    more info
     
    involved_in telomeric D-loop disassembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in telomeric D-loop disassembly IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in telomeric D-loop disassembly TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in chromosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in replication fork ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    bifunctional 3'-5' exonuclease/ATP-dependent helicase WRN
    Names
    DNA helicase, RecQ-like type 3
    Werner syndrome ATP-dependent helicase
    Werner syndrome RecQ like helicase
    Werner syndrome protein
    Werner syndrome, RecQ helicase-like
    exonuclease WRN
    recQ protein-like 2
    NP_000544.2
    XP_011542941.1
    XP_011542942.1
    XP_054217155.1
    XP_054217156.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_000553.6NP_000544.2  bifunctional 3'-5' exonuclease/ATP-dependent helicase WRN

      See identical proteins and their annotated locations for NP_000544.2

      Status: REVIEWED

      Source sequence(s)
      AC009563, AC084736
      Consensus CDS
      CCDS6082.1
      UniProtKB/Swiss-Prot
      A1KYY9, Q14191
      Related
      ENSP00000298139.5, ENST00000298139.7
      Conserved Domains (8) 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
      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 ...
      pfam00270
      Location:551712
      DEAD; DEAD/DEAH box helicase
      pfam14493
      Location:12611351
      HTH_40; Helix-turn-helix domain
      pfam16124
      Location:872939
      RecQ_Zn_bind; RecQ zinc-binding

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      31033810..31176138
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011544639.4XP_011542941.1  bifunctional 3'-5' exonuclease/ATP-dependent helicase WRN isoform X1

      See identical proteins and their annotated locations for XP_011542941.1

      Conserved Domains (8) 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
      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 ...
      pfam00270
      Location:524685
      DEAD; DEAD/DEAH box helicase
      pfam14493
      Location:12341324
      HTH_40; Helix-turn-helix domain
      pfam16124
      Location:845912
      RecQ_Zn_bind; RecQ zinc-binding
    2. XM_011544640.2XP_011542942.1  bifunctional 3'-5' exonuclease/ATP-dependent helicase WRN isoform X2

      UniProtKB/TrEMBL
      Q59F09
      Conserved Domains (7) 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
      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 ...
      pfam00270
      Location:42179
      DEAD; DEAD/DEAH box helicase
      pfam14493
      Location:728818
      HTH_40; Helix-turn-helix domain
      pfam16124
      Location:339406
      RecQ_Zn_bind; RecQ zinc-binding

    RNA

    1. XR_949472.4 RNA Sequence

    2. XR_949471.4 RNA Sequence

    3. XR_949470.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      31314935..31457266
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361180.1XP_054217155.1  bifunctional 3'-5' exonuclease/ATP-dependent helicase WRN isoform X1

    2. XM_054361181.1XP_054217156.1  bifunctional 3'-5' exonuclease/ATP-dependent helicase WRN isoform X2

      UniProtKB/TrEMBL
      Q59F09

    RNA

    1. XR_008487880.1 RNA Sequence

    2. XR_008487879.1 RNA Sequence

    3. XR_008487878.1 RNA Sequence