Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.
| RefSeq Version | NM_000553.4, 182507163 |
| Length | 5765 bp |
| Structure | linear |
| Update Date | 27-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA. |
| Product | Werner syndrome ATP-dependent helicase |
| Comment | 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments and orthologous data. |
| RefSeq | NP_000544.2 |
| CDS | 789..5087 | Exon (1) | 1..712 | Exon (2) | 1..712 | Exon (3) | 713..884 | Exon (4) | 885..997 | Exon (5) | 998..1143 | Exon (6) | 1144..1292 | Exon (7) | 1293..1442 | Exon (8) | 1443..1512 | Exon (9) | 1513..1627 | Exon (10) | 1628..2057 | Exon (11) | 2058..2138 | Exon (12) | 2139..2219 | Exon (13) | 2220..2364 | Exon (14) | 2365..2440 | Exon (15) | 2441..2508 | Exon (16) | 2509..2617 | Exon (17) | 2618..2686 | Exon (18) | 2687..2769 | Exon (19) | 2770..2876 | Exon (20) | 2877..3061 | Exon (21) | 3062..3236 | Exon (22) | 3237..3418 | Exon (23) | 3419..3520 | Exon (24) | 3521..3613 | Exon (25) | 3614..3755 | Exon (26) | 3756..3926 | Exon (27) | 3927..4021 | Exon (28) | 4022..4097 | Exon (29) | 4098..4171 | Exon (30) | 4172..4247 | Exon (31) | 4248..4360 | Exon (32) | 4361..4475 | Exon (33) | 4476..4607 | Exon (34) | 4608..4770 | Exon (35) | 4771..4979 | Exon (36) | 4980..5746 |
| Translation | MSEKKLETTAQQRKCPEWMNVQNKRCAVEERKACVRKSVFEDDLPFLEFTGSIVYSYDAS
DCSFLSEDISMSLSDGDVVGFDMEWPPLYNRGKLGKVALIQLCVSESKCYLFHVSSMSVF
PQGLKMLLENKAVKKAGVGIEGDQWKLLRDFDIKLKNFVELTDVANKKLKCTETWSLNSL
VKHLLGKQLLKDKSIRCSNWSKFPLTEDQKLYAATDAYAGFIIYRNLEILDDTVQRFAIN
KEEEILLSDMNKQLTSISEEVMDLAKHLPHAFSKLENPRRVSILLKDISENLYSLRRMII
GSTNIETELRPSNNLNLLSFEDSTTGGVQQKQIREHEVLIHVEDETWDPTLDHLAKHDGE
DVLGNKVERKEDGFEDGVEDNKLKENMERACLMSLDITEHELQILEQQSQEEYLSDIAYK
STEHLSPNDNENDTSYVIESDEDLEMEMLKHLSPNDNENDTSYVIESDEDLEMEMLKSLE
NLNSGTVEPTHSKCLKMERNLGLPTKEEEEDDENEANEGEEDDDKDFLWPAPNEEQVTCL
KMYFGHSSFKPVQWKVIHSVLEERRDNVAVMATGYGKSLCFQYPPVYVGKIGLVISPLIS
LMEDQVLQLKMSNIPACFLGSAQSENVLTDIKLGKYRIVYVTPEYCSGNMGLLQQLEADI
GITLIAVDEAHCISEWGHDFRDSFRKLGSLKTALPMVPIVALTATASSSIREDIVRCLNL
RNPQITCTGFDRPNLYLEVRRKTGNILQDLQPFLVKTSSHWEFEGPTIIYCPSRKMTQQV
TGELRKLNLSCGTYHAGMSFSTRKDIHHRFVRDEIQCVIATIAFGMGINKADIRQVIHYG
APKDMESYYQEIGRAGRDGLQSSCHVLWAPADINLNRHLLTEIRNEKFRLYKLKMMAKME
KYLHSSRCRRQIILSHFEDKQVQKASLGIMGTEKCCDNCRSRLDHCYSMDDSEDTSWDFG
PQAFKLLSAVDILGEKFGIGLPILFLRGSNSQRLADQYRRHSLFGTGKDQTESWWKAFSR
QLITEGFLVEVSRYNKFMKICALTKKGRNWLHKANTESQSLILQANEELCPKKLLLPSSK
TVSSGTKEHCYNQVPVELSTEKKSNLEKLYSYKPCDKISSGSNISKKSIMVQSPEKAYSS
SQPVISAQEQETQIVLYGKLVEARQKHANKMDVPPAILATNKILVDMAKMRPTTVENVKR
IDGVSEGKAAMLAPLLEVIKHFCQTNSVQTDLFSSTKPQEEQKTSLVAKNKICTLSQSMA
ITYSLFQEKKMPLKSIAESRILPLMTIGMHLSQAVKAGCPLDLERAGLTPEVQKIIADVI
RNPPVNSDMSKISLIRMLVPENIDTYLIHMAIEILKHGPDSGLQPSCDVNKRRCFPGSEE
ICSSSKRSKEEVGINTETSSAERKRRLPVWFAKGSDTSKKLMDKTKRGGLFS
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| Gene Symbol | WRN |
| Gene Synonym | DKFZp686C2056; RECQ3; RECQL2; RECQL3 |
| Chromosome | 8 |
| Locus Map | 8p12 |
| All Transcripts | NM_000553 |
| Title | Molecular cooperation between the Werner syndrome protein and replication protein A in relation to replication fork blockage . |
| Author | Machwe,A., Lozada,E., Wold,M.S., Li,G.M. and Orren,D.K. |
| Journal | J. Biol. Chem. 286 (5), 3497-3508 (2011) |
| Title | Aging is accompanied by a progressive decrease of expression of the . |
| Author | Polosak,J., Kurylowicz,A., Roszkowska-Gancarz,M., Owczarz,M. and Puzianowska-Kuznicka,M. |
| Journal | J. Gerontol. A Biol. Sci. Med. Sci. 66 (1), 19-25 (2011) |
| Title | Polymorphisms in DNA repair genes and risk of non-Hodgkin lymphoma in a pooled analysis of three studies . |
| Author | Shen,M., Menashe,I., Morton,L.M., Zhang,Y., Armstrong,B., Wang,S.S., Lan,Q., Hartge,P., Purdue,M.P., Cerhan,J.R., Grulich,A., Cozen,W., Yeager,M., Holford,T.R., Vajdic,C.M., Davis,S., Leaderer,B., Kricker,A., Severson,R.K., Zahm,S.H., Chatterjee,N., Rothman,N., Chanock,S.J. and Zheng,T. |
| Journal | Br. J. Haematol. 151 (3), 239-244 (2010) |
| Title | Depletion of Werner helicase results in mitotic hyperrecombination and pleiotropic homologous and nonhomologous recombination phenotypes . |
| Author | Rahn,J.J., Lowery,M.P., Della-Coletta,L., Adair,G.M. and Nairn,R.S. |
| Journal | Mech. Ageing Dev. 131 (9), 562-573 (2010) |
| Title | Lack of association of the WRN C1367T polymorphism with senile cataract in the Israeli population . |
| Author | Ehrenberg,M., Dratviman-Storobinsky,O., Avraham-Lubin,B.R. and Goldenberg-Cohen,N. |
| Journal | Mol. Vis. 16, 1771-1775 (2010) |
| Title | The Werner syndrome protein is a DNA helicase . |
| Author | Gray,M.D., Shen,J.C., Kamath-Loeb,A.S., Blank,A., Sopher,B.L., Martin,G.M., Oshima,J. and Loeb,L.A. |
| Journal | Nat. Genet. 17 (1), 100-103 (1997) |
| Title | Mutation and haplotype analyses of the Werner's syndrome gene based on its genomic structure: genetic epidemiology in the Japanese population . |
| Author | Matsumoto,T., Imamura,O., Yamabe,Y., Kuromitsu,J., Tokutake,Y., Shimamoto,A., Suzuki,N., Satoh,M., Kitao,S., Ichikawa,K., Kataoka,H., Sugawara,K., Thomas,W., Mason,B., Tsuchihashi,Z., Drayna,D., Sugawara,M., Sugimoto,M., Furuichi,Y. and Goto,M. |
| Journal | Hum. Genet. 100 (1), 123-130 (1997) |
| Title | Association of a polymorphic variant of the Werner helicase gene with myocardial infarction in a Japanese population . |
| Author | Ye,L., Miki,T., Nakura,J., Oshima,J., Kamino,K., Rakugi,H., Ikegami,H., Higaki,J., Edland,S.D., Martin,G.M. and Ogihara,T. |
| Journal | Am. J. Med. Genet. 68 (4), 494-498 (1997) |
| Title | Positional cloning of the Werner's syndrome gene . |
| Author | Yu,C.E., Oshima,J., Fu,Y.H., Wijsman,E.M., Hisama,F., Alisch,R., Matthews,S., Nakura,J., Miki,T., Ouais,S., Martin,G.M., Mulligan,J. and Schellenberg,G.D. |
| Journal | Science 272 (5259), 258-262 (1996) |
| Title | Genetic linkage of Werner's syndrome to five markers on chromosome 8 . |
| Author | Goto,M., Rubenstein,M., Weber,J., Woods,K. and Drayna,D. |
| Journal | Nature 355 (6362), 735-738 (1992) |
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