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

Gene ID: 7486, updated on 19-Jul-2014
Official Symbol
WRNprovided by HGNC
Official Full Name
Werner syndrome, RecQ helicase-likeprovided by HGNC
Primary source
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]
Location:
8p12
Exon count :
35
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 lysophosphatidylglycerol acyltransferase 1 pseudogene 1 Neighboring gene purine-rich element binding protein G Neighboring gene potassium channel tetramerization domain containing 9 pseudogene 6 Neighboring gene uncharacterized LOC101929492

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 Protein Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

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
ATP catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
ATP catabolic process IEA
Inferred from Electronic Annotation
more info
 
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 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
 
cellular response to starvation IDA
Inferred from Direct Assay
more info
PubMed 
double-strand break repair IMP
Inferred from Mutant Phenotype
more info
 
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 
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
PubMed 
Preferred Names
Werner syndrome ATP-dependent helicase
Names
Werner syndrome ATP-dependent helicase
exonuclease WRN
recQ protein-like 2
DNA helicase, RecQ-like type 3
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 

    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 proteins identical to 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
    Blast Score: 193
    HRDC; Helicase and RNase D C-terminal
    TIGR00614
    Location:5381010
    Blast Score: 2242
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    cd06129
    Location:61229
    Blast Score: 646
    RNaseD_like; DEDDy 3'-5' exonuclease domain of RNase D, WRN, and similar proteins
    smart00956
    Location:9581051
    Blast Score: 258
    RQC; This DNA-binding domain is found in the RecQ helicase among others and has a helix-turn-helix structure
    cd00046
    Location:565705
    Blast Score: 213
    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
    Blast Score: 296
    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
    Blast Score: 186
    HTH_40; Helix-turn-helix domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000008.11 

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

Alternate HuRef

Genomic

  1. AC_000140.1 

    Range
    29435610..29576278
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 

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

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