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

Gene ID: 7486, updated on 1-Jun-2020

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
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

Genomic context

See WRN in Genome Data Viewer
Location:
8p12
Exon count:
38
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (31033749..31176138)
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 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

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

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

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

Homology

Clone Names

  • DKFZp686C2056

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3'-5' DNA helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
3'-flap-structured DNA binding IDA
Inferred from Direct Assay
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
 
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 
MutLalpha complex 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 
exonuclease activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
forked DNA-dependent helicase activity IDA
Inferred from Direct Assay
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 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 homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex binding IDA
Inferred from Direct Assay
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 IDA
Inferred from Direct Assay
more info
PubMed 
DNA unwinding involved in DNA replication IBA
Inferred from Biological aspect of Ancestor
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 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 
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 IDA
Inferred from Direct Assay
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 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 
t-circle formation TAS
Traceable Author Statement
more info
PubMed 
telomere maintenance IBA
Inferred from Biological aspect of Ancestor
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 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
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
chromosome 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 
replication fork ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
Werner syndrome ATP-dependent helicase
Names
DNA helicase, RecQ-like type 3
Werner syndrome RecQ like helicase
Werner syndrome, RecQ helicase-like
exonuclease WRN
recQ protein-like 2
NP_000544.2
XP_011542941.1
XP_011542942.1
XP_024303033.1

NCBI Reference Sequences (RefSeq)

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  Werner syndrome ATP-dependent helicase

    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
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    31033749..31176138
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544639.3XP_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: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_024447265.1XP_024303033.1  Werner syndrome ATP-dependent helicase isoform X2

    Conserved Domains (5) summary
    smart00341
    Location:10861159
    HRDC; Helicase and RNase D C-terminal
    TIGR00614
    Location:468940
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    cd06129
    Location:4159
    RNaseD_like; DEDDy 3'-5' exonuclease domain of RNase D, WRN, and similar proteins
    pfam14493
    Location:11881282
    HTH_40; Helix-turn-helix domain
    cl28246
    Location:86410
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
  3. XM_011544640.1XP_011542942.1  Werner syndrome ATP-dependent helicase isoform X3

    Related
    ENST00000521620.5
    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_949472.3 RNA Sequence

  2. XR_949471.3 RNA Sequence

  3. XR_949470.3 RNA Sequence

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