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Protein

Werner syndrome ATP-dependent helicase

Gene

WRN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Multifunctional enzyme that has both magnesium and ATP-dependent DNA-helicase activity and 3'->5' exonuclease activity towards double-stranded DNA with a 5'-overhang. Has no nuclease activity towards single-stranded DNA or blunt-ended double-stranded DNA. Binds preferentially to DNA substrates containing alternate secondary structures, such as replication forks and Holliday junctions. May play an important role in the dissociation of joint DNA molecules that can arise as products of homologous recombination, at stalled replication forks or during DNA repair. Alleviates stalling of DNA polymerases at the site of DNA lesions. Important for genomic integrity. Plays a role in the formation of DNA replication focal centers; stably associates with foci elements generating binding sites for RP-A (By similarity). Plays a role in double-strand break repair after gamma-irradiation.By similarity6 Publications

Catalytic activityi

ATP + H2O = ADP + phosphate.1 Publication

Cofactori

Mg2+1 Publication, Mn2+1 Publication, Zn2+1 PublicationNote: Binds 2 magnesium ions per subunit. Has high activity with manganese and zinc ions (in vitro).1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi82Magnesium 1; catalyticCombined sources1 Publication1
Metal bindingi82Magnesium 2; catalyticCombined sources1 Publication1
Metal bindingi84Magnesium 1; catalyticCombined sources1 Publication1
Metal bindingi216Magnesium 1; catalyticCombined sources1 Publication1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi571 – 578ATPPROSITE-ProRule annotation8

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding, Exonuclease, Helicase, Hydrolase, Multifunctional enzyme, Nuclease
Biological processDNA damage, DNA repair
LigandATP-binding, Magnesium, Metal-binding, Nucleotide-binding, Zinc

Enzyme and pathway databases

BRENDAi3.6.4.12 2681
ReactomeiR-HSA-3108214 SUMOylation of DNA damage response and repair proteins
R-HSA-5685938 HDR through Single Strand Annealing (SSA)
R-HSA-5685942 HDR through Homologous Recombination (HRR)
R-HSA-5693554 Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
R-HSA-5693568 Resolution of D-loop Structures through Holliday Junction Intermediates
R-HSA-5693579 Homologous DNA Pairing and Strand Exchange
R-HSA-5693607 Processing of DNA double-strand break ends
R-HSA-5693616 Presynaptic phase of homologous DNA pairing and strand exchange
R-HSA-6804756 Regulation of TP53 Activity through Phosphorylation
R-HSA-69473 G2/M DNA damage checkpoint
SIGNORiQ14191

Names & Taxonomyi

Protein namesi
Recommended name:
Werner syndrome ATP-dependent helicase (EC:3.6.4.121 Publication)
Alternative name(s):
DNA helicase, RecQ-like type 3
Short name:
RecQ3
Exonuclease WRN (EC:3.1.-.-)
RecQ protein-like 2
Gene namesi
Name:WRN
Synonyms:RECQ3, RECQL2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000165392.9
HGNCiHGNC:12791 WRN
MIMi604611 gene
neXtProtiNX_Q14191

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Werner syndrome (WRN)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare autosomal recessive progeroid syndrome characterized by the premature onset of multiple age-related disorders, including atherosclerosis, cancer, non-insulin-dependent diabetes mellitus, ocular cataracts and osteoporosis. The major cause of death, at a median age of 47, is myocardial infarction.
See also OMIM:277700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_026588125K → N in WRN. 1 PublicationCorresponds to variant dbSNP:rs387906337EnsemblClinVar.1
Natural variantiVAR_026589135K → E in WRN. 1 PublicationCorresponds to variant dbSNP:rs267607008EnsemblClinVar.1
Colorectal cancer (CRC)2 Publications
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionA complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.
See also OMIM:114500

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi84E → A: Abolishes exonuclease activity. 2 Publications1
Mutagenesisi88L → A: No effect on exonuclease activity. 1
Mutagenesisi145W → A: Reduces exonuclease activity. 1 Publication1
Mutagenesisi212Y → F: Strongly reduces exonuclease activity. 1 Publication1
Mutagenesisi987R → A: Reduces affinity for DNA about 8-fold. Loss of DNA binding; when associated with A-993. 1 Publication1
Mutagenesisi989S → A: Reduces affinity for DNA about 4-fold. 1 Publication1
Mutagenesisi993R → A: Reduces affinity for DNA about 20-fold. Loss of DNA binding; when associated with A-987. 1 Publication1
Mutagenesisi993R → E: Loss of DNA binding. 1 Publication1
Mutagenesisi1037F → A: Reduces affinity for DNA about 8-fold. 1 Publication1
Mutagenesisi1038M → A: Reduces affinity for DNA about 4-fold. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi7486
GeneReviewsiWRN
MalaCardsiWRN
MIMi114500 phenotype
277700 phenotype
OpenTargetsiENSG00000165392
Orphaneti902 Werner syndrome
PharmGKBiPA367

Chemistry databases

ChEMBLiCHEMBL2146312

Polymorphism and mutation databases

BioMutaiWRN
DMDMi322510082

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00002050452 – 1432Werner syndrome ATP-dependent helicaseAdd BLAST1431

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylserineCombined sources1
Cross-linki154Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki241Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki252Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei426PhosphoserineCombined sources1
Modified residuei440PhosphoserineCombined sources1
Modified residuei453PhosphoserineCombined sources1
Modified residuei467PhosphoserineCombined sources1
Modified residuei478PhosphoserineCombined sources1
Modified residuei1133PhosphoserineCombined sources1
Modified residuei1400PhosphoserineCombined sources1

Post-translational modificationi

Phosphorylated by PRKDC.1 Publication

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ14191
MaxQBiQ14191
PaxDbiQ14191
PeptideAtlasiQ14191
PRIDEiQ14191
ProteomicsDBi59913

PTM databases

iPTMnetiQ14191
PhosphoSitePlusiQ14191

Expressioni

Gene expression databases

BgeeiENSG00000165392 Expressed in 199 organ(s), highest expression level in sperm
CleanExiHS_WRN
GenevisibleiQ14191 HS

Organism-specific databases

HPAiHPA028661

Interactioni

Subunit structurei

Monomer, and homooligomer. May exist as homodimer, homotrimer, homotetramer and/or homohexamer. Homotetramer, or homohexamer, when bound to DNA. Interacts via its N-terminal domain with WRNIP1 (By similarity). Interacts with EXO1, PCNA and SUPV3L1. Interacts with PML (isoform PML-4).By similarity6 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei145Interaction with DNACurated1
Sitei1037Interaction with DNA1

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi113323, 57 interactors
CORUMiQ14191
DIPiDIP-31380N
ELMiQ14191
IntActiQ14191, 29 interactors
MINTiQ14191
STRINGi9606.ENSP00000298139

Chemistry databases

BindingDBiQ14191

Structurei

Secondary structure

11432
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

DisProtiDP00443
ProteinModelPortaliQ14191
SMRiQ14191
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ14191

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini60 – 2283'-5' exonucleaseAdd BLAST169
Repeati424 – 45011 PublicationAdd BLAST27
Repeati451 – 47721 PublicationAdd BLAST27
Domaini558 – 724Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST167
Domaini749 – 899Helicase C-terminalPROSITE-ProRule annotationAdd BLAST151
Domaini1150 – 1229HRDCPROSITE-ProRule annotationAdd BLAST80

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni2 – 277Interaction with WRNIP1By similarityAdd BLAST276
Regioni424 – 4772 X 27 AA tandem repeats of H-L-S-P-N-D-N-E-N-D-T-S-Y-V-I-E-S-D-E-D-L-E-M-E-M-L-KAdd BLAST54
Regioni987 – 993Interaction with DNA1 Publication7

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi668 – 671DEAH box4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi507 – 510Poly-Glu4

Sequence similaritiesi

Belongs to the helicase family. RecQ subfamily.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0351 Eukaryota
KOG4373 Eukaryota
COG0514 LUCA
GeneTreeiENSGT00550000074520
HOGENOMiHOG000146447
HOVERGENiHBG000325
InParanoidiQ14191
KOiK10900
OMAiHRFMRDE
OrthoDBiEOG091G0B07
PhylomeDBiQ14191
TreeFamiTF312852

Family and domain databases

CDDicd00079 HELICc, 1 hit
Gene3Di1.10.10.10, 1 hit
3.30.420.10, 1 hit
InterProiView protein in InterPro
IPR002562 3'-5'_exonuclease_dom
IPR011545 DEAD/DEAH_box_helicase_dom
IPR004589 DNA_helicase_ATP-dep_RecQ
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR029491 Helicase_HTH
IPR010997 HRDC-like_sf
IPR002121 HRDC_dom
IPR027417 P-loop_NTPase
IPR032284 RecQ_Zn-bd
IPR012337 RNaseH-like_sf
IPR036397 RNaseH_sf
IPR018982 RQC_domain
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf
PfamiView protein in Pfam
PF00270 DEAD, 1 hit
PF01612 DNA_pol_A_exo1, 1 hit
PF00271 Helicase_C, 1 hit
PF00570 HRDC, 1 hit
PF14493 HTH_40, 1 hit
PF16124 RecQ_Zn_bind, 1 hit
PF09382 RQC, 1 hit
SMARTiView protein in SMART
SM00474 35EXOc, 1 hit
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit
SM00341 HRDC, 1 hit
SM00956 RQC, 1 hit
SUPFAMiSSF46785 SSF46785, 1 hit
SSF47819 SSF47819, 1 hit
SSF52540 SSF52540, 1 hit
SSF53098 SSF53098, 1 hit
TIGRFAMsiTIGR00614 recQ_fam, 1 hit
PROSITEiView protein in PROSITE
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit
PS50967 HRDC, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q14191-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSEKKLETTA QQRKCPEWMN VQNKRCAVEE RKACVRKSVF EDDLPFLEFT
60 70 80 90 100
GSIVYSYDAS DCSFLSEDIS MSLSDGDVVG FDMEWPPLYN RGKLGKVALI
110 120 130 140 150
QLCVSESKCY LFHVSSMSVF PQGLKMLLEN KAVKKAGVGI EGDQWKLLRD
160 170 180 190 200
FDIKLKNFVE LTDVANKKLK CTETWSLNSL VKHLLGKQLL KDKSIRCSNW
210 220 230 240 250
SKFPLTEDQK LYAATDAYAG FIIYRNLEIL DDTVQRFAIN KEEEILLSDM
260 270 280 290 300
NKQLTSISEE VMDLAKHLPH AFSKLENPRR VSILLKDISE NLYSLRRMII
310 320 330 340 350
GSTNIETELR PSNNLNLLSF EDSTTGGVQQ KQIREHEVLI HVEDETWDPT
360 370 380 390 400
LDHLAKHDGE DVLGNKVERK EDGFEDGVED NKLKENMERA CLMSLDITEH
410 420 430 440 450
ELQILEQQSQ EEYLSDIAYK STEHLSPNDN ENDTSYVIES DEDLEMEMLK
460 470 480 490 500
HLSPNDNEND TSYVIESDED LEMEMLKSLE NLNSGTVEPT HSKCLKMERN
510 520 530 540 550
LGLPTKEEEE DDENEANEGE EDDDKDFLWP APNEEQVTCL KMYFGHSSFK
560 570 580 590 600
PVQWKVIHSV LEERRDNVAV MATGYGKSLC FQYPPVYVGK IGLVISPLIS
610 620 630 640 650
LMEDQVLQLK MSNIPACFLG SAQSENVLTD IKLGKYRIVY VTPEYCSGNM
660 670 680 690 700
GLLQQLEADI GITLIAVDEA HCISEWGHDF RDSFRKLGSL KTALPMVPIV
710 720 730 740 750
ALTATASSSI REDIVRCLNL RNPQITCTGF DRPNLYLEVR RKTGNILQDL
760 770 780 790 800
QPFLVKTSSH WEFEGPTIIY CPSRKMTQQV TGELRKLNLS CGTYHAGMSF
810 820 830 840 850
STRKDIHHRF VRDEIQCVIA TIAFGMGINK ADIRQVIHYG APKDMESYYQ
860 870 880 890 900
EIGRAGRDGL QSSCHVLWAP ADINLNRHLL TEIRNEKFRL YKLKMMAKME
910 920 930 940 950
KYLHSSRCRR QIILSHFEDK QVQKASLGIM GTEKCCDNCR SRLDHCYSMD
960 970 980 990 1000
DSEDTSWDFG PQAFKLLSAV DILGEKFGIG LPILFLRGSN SQRLADQYRR
1010 1020 1030 1040 1050
HSLFGTGKDQ TESWWKAFSR QLITEGFLVE VSRYNKFMKI CALTKKGRNW
1060 1070 1080 1090 1100
LHKANTESQS LILQANEELC PKKLLLPSSK TVSSGTKEHC YNQVPVELST
1110 1120 1130 1140 1150
EKKSNLEKLY SYKPCDKISS GSNISKKSIM VQSPEKAYSS SQPVISAQEQ
1160 1170 1180 1190 1200
ETQIVLYGKL VEARQKHANK MDVPPAILAT NKILVDMAKM RPTTVENVKR
1210 1220 1230 1240 1250
IDGVSEGKAA MLAPLLEVIK HFCQTNSVQT DLFSSTKPQE EQKTSLVAKN
1260 1270 1280 1290 1300
KICTLSQSMA ITYSLFQEKK MPLKSIAESR ILPLMTIGMH LSQAVKAGCP
1310 1320 1330 1340 1350
LDLERAGLTP EVQKIIADVI RNPPVNSDMS KISLIRMLVP ENIDTYLIHM
1360 1370 1380 1390 1400
AIEILKHGPD SGLQPSCDVN KRRCFPGSEE ICSSSKRSKE EVGINTETSS
1410 1420 1430
AERKRRLPVW FAKGSDTSKK LMDKTKRGGL FS
Length:1,432
Mass (Da):162,461
Last modified:February 8, 2011 - v2
Checksum:i63F10D19E90AA461
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01745332K → R1 PublicationCorresponds to variant dbSNP:rs34477820EnsemblClinVar.1
Natural variantiVAR_03631892G → V in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_017454114V → I Polymorphism; no effect on exonuclease activity. 3 PublicationsCorresponds to variant dbSNP:rs2230009EnsemblClinVar.1
Natural variantiVAR_026588125K → N in WRN. 1 PublicationCorresponds to variant dbSNP:rs387906337EnsemblClinVar.1
Natural variantiVAR_026589135K → E in WRN. 1 PublicationCorresponds to variant dbSNP:rs267607008EnsemblClinVar.1
Natural variantiVAR_017455172T → P Polymorphism; no effect on exonuclease activity. 2 PublicationsCorresponds to variant dbSNP:rs367991517EnsemblClinVar.1
Natural variantiVAR_017456240N → K1 PublicationCorresponds to variant dbSNP:rs148229804EnsemblClinVar.1
Natural variantiVAR_006904324T → A1 PublicationCorresponds to variant dbSNP:rs1800390EnsemblClinVar.1
Natural variantiVAR_020450329Q → R. Corresponds to variant dbSNP:rs4987237Ensembl.1
Natural variantiVAR_018941343E → K1 PublicationCorresponds to variant dbSNP:rs11574222EnsemblClinVar.1
Natural variantiVAR_020451383L → F. Corresponds to variant dbSNP:rs4987238EnsemblClinVar.1
Natural variantiVAR_017457383L → W1 Publication1
Natural variantiVAR_006905387M → I4 PublicationsCorresponds to variant dbSNP:rs1800391EnsemblClinVar.1
Natural variantiVAR_018942533N → S1 PublicationCorresponds to variant dbSNP:rs11574240Ensembl.1
Natural variantiVAR_018943612S → C1 PublicationCorresponds to variant dbSNP:rs11574250EnsemblClinVar.1
Natural variantiVAR_018944708S → F1 PublicationCorresponds to variant dbSNP:rs11574289EnsemblClinVar.1
Natural variantiVAR_057124711R → W. Corresponds to variant dbSNP:rs34560788EnsemblClinVar.1
Natural variantiVAR_017458724Q → L1 Publication1
Natural variantiVAR_014913834R → C1 PublicationCorresponds to variant dbSNP:rs3087425EnsemblClinVar.1
Natural variantiVAR_018945912I → S1 PublicationCorresponds to variant dbSNP:rs11574323EnsemblClinVar.1
Natural variantiVAR_0079031074L → F5 PublicationsCorresponds to variant dbSNP:rs1801195EnsemblClinVar.1
Natural variantiVAR_0149141079S → L1 PublicationCorresponds to variant dbSNP:rs3087414EnsemblClinVar.1
Natural variantiVAR_0189461133S → A1 PublicationCorresponds to variant dbSNP:rs11574358Ensembl.1
Natural variantiVAR_0541621141S → L1 PublicationCorresponds to variant dbSNP:rs139323683EnsemblClinVar.1
Natural variantiVAR_0174591269K → E1 PublicationCorresponds to variant dbSNP:rs746648510Ensembl.1
Natural variantiVAR_0189471339V → I1 PublicationCorresponds to variant dbSNP:rs11574395EnsemblClinVar.1
Natural variantiVAR_0069061367C → R Polymorphism associated with a higher risk of myocardial infarction. 4 PublicationsCorresponds to variant dbSNP:rs1346044EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L76937 Genomic DNA Translation: AAC41981.1
AY818673 mRNA Translation: AAX21098.1
AF091214 mRNA Translation: AAC63361.1
AF181897, AF181896 Genomic DNA Translation: AAF06162.1
AY442327 Genomic DNA Translation: AAR05448.1
AC084736 Genomic DNA No translation available.
CCDSiCCDS6082.1
RefSeqiNP_000544.2, NM_000553.4
UniGeneiHs.632050

Genome annotation databases

EnsembliENST00000298139; ENSP00000298139; ENSG00000165392
GeneIDi7486
KEGGihsa:7486
UCSCiuc003xio.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

WRN

WRN mutation db (Warner disease)

Atlas of Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L76937 Genomic DNA Translation: AAC41981.1
AY818673 mRNA Translation: AAX21098.1
AF091214 mRNA Translation: AAC63361.1
AF181897, AF181896 Genomic DNA Translation: AAF06162.1
AY442327 Genomic DNA Translation: AAR05448.1
AC084736 Genomic DNA No translation available.
CCDSiCCDS6082.1
RefSeqiNP_000544.2, NM_000553.4
UniGeneiHs.632050

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2AXLNMR-A949-1092[»]
2DGZNMR-A1140-1239[»]
2E1EX-ray2.30A1142-1242[»]
2E1FX-ray2.00A1142-1242[»]
2FBTX-ray2.05A38-236[»]
2FBVX-ray2.40A38-236[»]
2FBXX-ray2.20A38-236[»]
2FBYX-ray2.00A38-236[»]
2FC0X-ray2.00A38-236[»]
3AAFX-ray1.90A/B949-1079[»]
DisProtiDP00443
ProteinModelPortaliQ14191
SMRiQ14191
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113323, 57 interactors
CORUMiQ14191
DIPiDIP-31380N
ELMiQ14191
IntActiQ14191, 29 interactors
MINTiQ14191
STRINGi9606.ENSP00000298139

Chemistry databases

BindingDBiQ14191
ChEMBLiCHEMBL2146312

PTM databases

iPTMnetiQ14191
PhosphoSitePlusiQ14191

Polymorphism and mutation databases

BioMutaiWRN
DMDMi322510082

Proteomic databases

EPDiQ14191
MaxQBiQ14191
PaxDbiQ14191
PeptideAtlasiQ14191
PRIDEiQ14191
ProteomicsDBi59913

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000298139; ENSP00000298139; ENSG00000165392
GeneIDi7486
KEGGihsa:7486
UCSCiuc003xio.5 human

Organism-specific databases

CTDi7486
DisGeNETi7486
EuPathDBiHostDB:ENSG00000165392.9
GeneCardsiWRN
GeneReviewsiWRN
H-InvDBiHIX0007441
HGNCiHGNC:12791 WRN
HPAiHPA028661
MalaCardsiWRN
MIMi114500 phenotype
277700 phenotype
604611 gene
neXtProtiNX_Q14191
OpenTargetsiENSG00000165392
Orphaneti902 Werner syndrome
PharmGKBiPA367
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0351 Eukaryota
KOG4373 Eukaryota
COG0514 LUCA
GeneTreeiENSGT00550000074520
HOGENOMiHOG000146447
HOVERGENiHBG000325
InParanoidiQ14191
KOiK10900
OMAiHRFMRDE
OrthoDBiEOG091G0B07
PhylomeDBiQ14191
TreeFamiTF312852

Enzyme and pathway databases

BRENDAi3.6.4.12 2681
ReactomeiR-HSA-3108214 SUMOylation of DNA damage response and repair proteins
R-HSA-5685938 HDR through Single Strand Annealing (SSA)
R-HSA-5685942 HDR through Homologous Recombination (HRR)
R-HSA-5693554 Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
R-HSA-5693568 Resolution of D-loop Structures through Holliday Junction Intermediates
R-HSA-5693579 Homologous DNA Pairing and Strand Exchange
R-HSA-5693607 Processing of DNA double-strand break ends
R-HSA-5693616 Presynaptic phase of homologous DNA pairing and strand exchange
R-HSA-6804756 Regulation of TP53 Activity through Phosphorylation
R-HSA-69473 G2/M DNA damage checkpoint
SIGNORiQ14191

Miscellaneous databases

ChiTaRSiWRN human
EvolutionaryTraceiQ14191
GeneWikiiWerner_syndrome_ATP-dependent_helicase
GenomeRNAii7486
PROiPR:Q14191
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000165392 Expressed in 199 organ(s), highest expression level in sperm
CleanExiHS_WRN
GenevisibleiQ14191 HS

Family and domain databases

CDDicd00079 HELICc, 1 hit
Gene3Di1.10.10.10, 1 hit
3.30.420.10, 1 hit
InterProiView protein in InterPro
IPR002562 3'-5'_exonuclease_dom
IPR011545 DEAD/DEAH_box_helicase_dom
IPR004589 DNA_helicase_ATP-dep_RecQ
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR029491 Helicase_HTH
IPR010997 HRDC-like_sf
IPR002121 HRDC_dom
IPR027417 P-loop_NTPase
IPR032284 RecQ_Zn-bd
IPR012337 RNaseH-like_sf
IPR036397 RNaseH_sf
IPR018982 RQC_domain
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf
PfamiView protein in Pfam
PF00270 DEAD, 1 hit
PF01612 DNA_pol_A_exo1, 1 hit
PF00271 Helicase_C, 1 hit
PF00570 HRDC, 1 hit
PF14493 HTH_40, 1 hit
PF16124 RecQ_Zn_bind, 1 hit
PF09382 RQC, 1 hit
SMARTiView protein in SMART
SM00474 35EXOc, 1 hit
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit
SM00341 HRDC, 1 hit
SM00956 RQC, 1 hit
SUPFAMiSSF46785 SSF46785, 1 hit
SSF47819 SSF47819, 1 hit
SSF52540 SSF52540, 1 hit
SSF53098 SSF53098, 1 hit
TIGRFAMsiTIGR00614 recQ_fam, 1 hit
PROSITEiView protein in PROSITE
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit
PS50967 HRDC, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiWRN_HUMAN
AccessioniPrimary (citable) accession number: Q14191
Secondary accession number(s): A1KYY9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: February 8, 2011
Last modified: November 7, 2018
This is version 210 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
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