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

Gene ID: 7486, updated on 27-Nov-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
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Genomic context

See WRN in Genome Data Viewer
Location:
8p12
Exon count:
37
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (31033810..31176138)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (31314935..31457266)
RS_2024_09 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 ATP-dependent H2AZ histone chaperone activity IEA
Inferred from Electronic Annotation
more info
 
enables ATP-dependent H3-H4 histone complex chaperone activity IEA
Inferred from Electronic Annotation
more info
 
enables DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA clamp loader activity IEA
Inferred from Electronic Annotation
more info
 
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 chromatin extrusion motor activity IEA
Inferred from Electronic Annotation
more info
 
enables cohesin loader activity IEA
Inferred from Electronic Annotation
more info
 
enables double-stranded DNA helicase activity 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 single-stranded 3'-5' DNA helicase activity IEA
Inferred from Electronic Annotation
more info
 
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 chromatin looping IEA
Inferred from Electronic Annotation
more info
 
involved_in chromatin remodeling IEA
Inferred from Electronic Annotation
more info
 
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_2024_08

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

RNA

  1. XR_008487880.1 RNA Sequence

  2. XR_008487879.1 RNA Sequence

  3. XR_008487878.1 RNA Sequence