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RECQL2 (WRN) |
Protein FULL name:
Werner syndrome ATP-dependent helicase [Homo sapiens].
Protein SHORT name:
RECQL2, RECQ3, WRN
RECQL2 (WRN) (Homo sapiens) is product of expression of WRN gene.
Human diseases related to this protein:
RECQL2 (WRN) is involved in:
NHEJ in Homo sapiens
FUNCTION: Essential for the formation of DNA replication focal centers; stably associates with foci elements generating binding sites for RP-A. Exhibits a magnesium-dependent ATP-dependent DNA- helicase activity. May be involved in the control of genomic stability (By similarity).
CATALYTIC ACTIVITY: ATP + H(2)O = ADP + phosphate.
SUBUNIT: Interacts via its N-terminal domain with WRNIP1 (By similarity). Interacts with EXO1.
INTERACTION: P54132:BLM; NbExp=4; IntAct=EBI-368417, EBI-621372; P39748:FEN1; NbExp=7; IntAct=EBI-368417, EBI-707816; P09874:PARP1; NbExp=2; IntAct=EBI-368417, EBI-355676; P43351:RAD52; NbExp=4; IntAct=EBI-368417, EBI-706448; P27694:RPA1; NbExp=4; IntAct=EBI-368417, EBI-621389; Q15554:TERF2; NbExp=4; IntAct=EBI-368417, EBI-706637; P04637:TP53; NbExp=2; IntAct=EBI-368417, EBI-366083; P55072:VCP; NbExp=1; IntAct=EBI-368417, EBI-355164; Q3ZBT1:VCP (xeno); NbExp=1; IntAct=EBI-368417, EBI-706432;
SUBCELLULAR LOCATION: Nucleus, nucleolus.
PTM: Phosphorylated by PRKDC. Phosphorylated upon DNA damage, probably by ATM or ATR.
DISEASE: Defects in WRN are a cause of Werner syndrome (WRN) [MIM:277700]. WRN is a 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. Currently all known WS mutations produces prematurely terminated proteins.
DISEASE: Defects in WRN may be a cause of colorectal cancer (CRC) [MIM:114500].
SIMILARITY: Belongs to the helicase family. RecQ subfamily.
SIMILARITY: Contains 1 3'-5' exonuclease domain.
SIMILARITY: Contains 1 helicase ATP-binding domain.
SIMILARITY: Contains 1 helicase C-terminal domain.
SIMILARITY: Contains 1 HRDC domain.
WEB RESOURCE: Name=WRN; Note=WRN mutation db (Warner disease); [LINK]
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; [LINK]
WEB RESOURCE: Name=GeneReviews; [LINK]
WEB RESOURCE: Name=NIEHS-SNPs; [LINK]
| NCBI GenPept GI number(s): |
110735439 |
| Species: | Homo sapiens |
Links to other databases:
| Database | ID | Link |
| Uniprot | Q14191 |
Q14191 |
| PFAM: | - |
Q14191 (Link - using uniprot id) |
| InterPro: | - |
Q14191 (Link - using uniprot id) |
| CATH: | None | |
| SCOP: | None | |
| PDB: | - | - |
Protein sequence:
|
MSEKKLETTAQQRKCPEWMNVQNKRCAVEERKACVRKSVFEDDLPFLEFT GSIVYSYDASDCSFLSEDISMSLSDGDVVGFDMEWPPLYNRGKLGKVALI QLCVSESKCYLFHVSSMSVFPQGLKMLLENKAVKKAGVGIEGDQWKLLRD FDIKLKNFVELTDVANKKLKCTETWSLNSLVKHLLGKQLLKDKSIRCSNW SKFPLTEDQKLYAATDAYAGFIIYRNLEILDDTVQRFAINKEEEILLSDM NKQLTSISEEVMDLAKHLPHAFSKLENPRRVSILLKDISENLYSLRRMII GSTNIETELRPSNNLNLLSFEDSTTGGVQQKQIREHEVLIHVEDETWDPT LDHLAKHDGEDVLGNKVERKEDGFEDGVEDNKLKENMERACLMSLDITEH ELQILEQQSQEEYLSDIAYKSTEHLSPNDNENDTSYVIESDEDLEMEMLK HLSPNDNENDTSYVIESDEDLEMEMLKSLENLNSGTVEPTHSKCLKMERN LGLPTKEEEEDDENEANEGEEDDDKDFLWPAPNEEQVTCLKMYFGHSSFK PVQWKVIHSVLEERRDNVAVMATGYGKSLCFQYPPVYVGKIGLVISPLIS LMEDQVLQLKMSNIPACFLGSAQSENVLTDIKLGKYRIVYVTPEYCSGNM GLLQQLEADIGITLIAVDEAHCISEWGHDFRDSFRKLGSLKTALPMVPIV ALTATASSSIREDIVRCLNLRNPQITCTGFDRPNLYLEVRRKTGNILQDL QPFLVKTSSHWEFEGPTIIYCPSRKMTQQVTGELRKLNLSCGTYHAGMSF STRKDIHHRFVRDEIQCVIATIAFGMGINKADIRQVIHYGAPKDMESYYQ EIGRAGRDGLQSSCHVLWAPADINLNRHLLTEIRNEKFRLYKLKMMAKME KYLHSSRCRRQIILSHFEDKQVQKASLGIMGTEKCCDNCRSRLDHCYSMD DSEDTSWDFGPQAFKLLSAVDILGEKFGIGLPILFLRGSNSQRLADQYRR HSLFGTGKDQTESWWKAFSRQLITEGFLVEVSRYNKFMKICALTKKGRNW LHKANTESQSLILQANEELCPKKLLLPSSKTVSSGTKEHCYNQVPVELST EKKSNLEKLYSYKPCDKISSGSNISKKSIMVQSPEKAYSSSQPVISAQEQ ETQIVLYGKLVEARQKHANKMDVPPAILATNKILVDMAKMRPTTVENVKR IDGVSEGKAAMLAPLLEVIKHFCQTNSVQTDLFSSTKPQEEQKTSLVAKN KICTLSQSMAITYSLFQEKKMPLKSIAESRILPLMTIGMHLSQAVKAGCP LDLERAGLTPEVQKIIADVIRNPPVNSDMSKISLIRMLVPENIDTYLIHM AIEILKHGPDSGLQPSCDVNKRRCFPGSEEICSSSKRSKEEVGINTETSS AERKRRLPVWFAKGSDTSKKLMDKTKRGGLFS |
RECQL2 (WRN) (Homo sapiens) is able to recognize following damages:
RECQL2 (WRN) (Homo sapiens) belongs to following protein families:
References:
| Title | Authors | Journal |
| Positional cloning of the Werner's syndrome gene. | Yu CE, Oshima J, Fu YH, Wijsman EM, Hisama F, Alisch R, Matthews S, Nakura J, Miki T, Ouais S, Martin GM, Mulligan J, Schellenberg GD | Science April 12, 1996 |
| Werner syndrome: characterization of mutations in the WRN gene in an affected family. | Meisslitzer C, Ruppitsch W, Weirich-Schwaiger H, Weirich HG, Jabkowsky J, Klein G, Schweiger M, Hirsch-Kauffmann M | Eur J Hum Genet Jan. 1, 1997 |
| Association of a polymorphic variant of the Werner helicase gene with myocardial infarction in a Japanese population. | Ye L, Miki T, Nakura J, Oshima J, Kamino K, Rakugi H, Ikegami H, Higaki J, Edland SD, Martin GM, Ogihara T | Am J Med Genet Jan. 11, 1997 |
| The 1396del A mutation and a missense mutation or a rare polymorphism of the WRN gene detected in a French Werner family with a severe phenotype and a case of an unusual vulvar cancer. Mutations in brief no. 136. Online. | Vidal V, Bay JO, Champomier F, Grancho M, Beauville L, Glowaczower C, Lemery D, Ferrara M, Bignon YJ | Hum Mutat Jan. 1, 1998 |
| Nucleolar localization of the Werner syndrome protein in human cells. | Marciniak RA, Lombard DB, Johnson FB, Guarente L | Proc Natl Acad Sci U S A June 9, 1998 |
| WRN mutations in Werner syndrome. | Moser MJ, Oshima J, Monnat RJ Jr | Hum Mutat Jan. 1, 1999 |
| Polymorphisms at the Werner locus: I. Newly identified polymorphisms, ethnic variability of 1367Cys/Arg, and its stability in a population of Finnish centenarians. | Castro E, Ogburn CE, Hunt KE, Tilvis R, Louhija J, Penttinen R, Erkkola R, Panduro A, Riestra R, Piussan C, Deeb SS, Wang L, Edland SD, Martin GM, Oshima J | Am J Med Genet Jan. 19, 1999 |
| Evolution of the RECQ family of helicases: A drosophila homolog, Dmblm, is similar to the human bloom syndrome gene. | Kusano K, Berres ME, Engels WR | Genetics March 1, 1999 |
| The Werner syndrome gene and global sequence variation. | Passarino G, Shen P, Van Kirk JB, Lin AA, De Benedictis G, Cavalli Sforza LL, Oefner PJ, Underhill PA | Genomics Feb. 1, 2001 |
| Werner protein is a target of DNA-dependent protein kinase in vivo and in vitro, and its catalytic activities are regulated by phosphorylation. | Karmakar P, Piotrowski J, Brosh RM Jr, Sommers JA, Miller SP, Cheng WH, Snowden CM, Ramsden DA, Bohr VA | J Biol Chem May 24, 2002 |
| The exonucleolytic and endonucleolytic cleavage activities of human exonuclease 1 are stimulated by an interaction with the carboxyl-terminal region of the Werner syndrome protein. | Sharma S, Sommers JA, Driscoll HC, Uzdilla L, Wilson TM, Brosh RM Jr | J Biol Chem June 27, 2003 |
| Solution structure of a multifunctional DNA- and protein-binding motif of human Werner syndrome protein. | Hu JS, Feng H, Zeng W, Lin GX, Xi XG | Proc Natl Acad Sci U S A Dec. 20, 2005 |
| WRN exonuclease structure and molecular mechanism imply an editing role in DNA end processing. | Perry JJ, Yannone SM, Holden LG, Hitomi C, Asaithamby A, Han S, Cooper PK, Chen DJ, Tainer JA | Nat Struct Mol Biol May 1, 2006 |
| The spectrum of WRN mutations in Werner syndrome patients. | Huang S, Lee L, Hanson NB, Lenaerts C, Hoehn H, Poot M, Rubin CD, Chen DF, Yang CC, Juch H, Dorn T, Spiegel R, Oral EA, Abid M, Battisti C, Lucci-Cordisco E, Neri G, Steed EH, Kidd A, Isley W, Showalter D, Vittone JL, Konstantinow A, Ring J, Meyer P, Wenger SL, von Herbay A, Wollina U, Schuelke M, Huizenga CR, Leistritz DF, Martin GM, Mian IS, Oshima J | Hum Mutat June 1, 2006 |
| Epigenetic inactivation of the premature aging Werner syndrome gene in human cancer. | Agrelo R, Cheng WH, Setien F, Ropero S, Espada J, Fraga MF, Herranz M, Paz MF, Sanchez-Cespedes M, Artiga MJ, Guerrero D, Castells A, von Kobbe C, Bohr VA, Esteller M | Proc Natl Acad Sci U S A June 6, 2006 |
| The consensus coding sequences of human breast and colorectal cancers. | Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE | Science Oct. 13, 2006 |
| ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. | Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER 3rd, Hurov KE, Luo J, Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ | Science May 25, 2007 |
| A quantitative atlas of mitotic phosphorylation. | Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP | Proc Natl Acad Sci U S A Aug. 5, 2008 |
| DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. | Ley TJ, Mardis ER, Ding L, Fulton B, McLellan MD, Chen K, Dooling D, Dunford-Shore BH, McGrath S, Hickenbotham M, Cook L, Abbott R, Larson DE, Koboldt DC, Pohl C, Smith S, Hawkins A, Abbott S, Locke D, Hillier LW, Miner T, Fulton L, Magrini V, Wylie T, Glasscock J, Conyers J, Sander N, Shi X, Osborne JR, Minx P, Gordon D, Chinwalla A, Zhao Y, Ries RE, Payton JE, Westervelt P, Tomasson MH, Watson M, Baty J, Ivanovich J, Heath S, Shannon WD, Nagarajan R, Walter MJ, Link DC, Graubert TA, DiPersio JF, Wilson RK | Nature Nov. 6, 2008 |
| Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. | Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK | Sci Signal Jan. 1, 2009 |
| Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. | Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S | Anal Chem June 1, 2009 |
Last modification of this entry: Oct. 12, 2010.
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