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Index > Protein center > PMS2(Gene name) > Human
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  • PMS2 (Gene name),
  • Mismatch repair endonuclease PMS2 (Protein name ),  PMS2_HUMAN from NCBI database.
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  • General Annotation
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  • Gene name:
    PMS2(PMSL2);
    Protein name:
    Mismatch repair endonuclease PMS2;
    Alternative:
    PMS1 protein homolog 2;DNA mismatch repair protein PMS2;
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    Heterodimer of PMS2 and MLH1 (MutL alpha). Forms a ternary complex with MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3). Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBS1 protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts with MTMR15/FAN1.
    Function:
    Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MLH1 to form MutL alpha. DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH6) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing the mismatch. DNA methylation would prevent cleavage and therefore assure that only the newly mutated DNA strand is going to be corrected. MulL alpha (MLH1-PMS2) interacts physically with the clamp loader subunits of DNA polymerase III, suggesting that it may play a role to recruit the DNA polymerase III to the site of the MMR. Also implicated in DNA damage signaling, a process which induces cell cycle arrest and can lead to apoptosis in case of major DNA damages.
    Subcellular Location:
    Nucleus
    Protein Attributes:
    Sequence length:
    862
    Sequence:
    50:
    MERAESSSTE | PAKAIKPIDR | KSVHQICSGQ | VVLSLSTAVK | ELVENSLDAG | 
    100:
    ATNIDLKLKD | YGVDLIEVSD | NGCGVEEENF | EGLTLKHHTS | KIQEFADLTQ | 
    150:
    VETFGFRGEA | LSSLCALSDV | TISTCHASAK | VGTRLMFDHN | GKIIQKTPYP | 
    200:
    RPRGTTVSVQ | QLFSTLPVRH | KEFQRNIKKE | YAKMVQVLHA | YCIISAGIRV | 
    250:
    SCTNQLGQGK | RQPVVCTGGS | PSIKENIGSV | FGQKQLQSLI | PFVQLPPSDS | 
    300:
    VCEEYGLSCS | DALHNLFYIS | GFISQCTHGV | GRSSTDRQFF | FINRRPCDPA | 
    350:
    KVCRLVNEVY | HMYNRHQYPF | VVLNISVDSE | CVDINVTPDK | RQILLQEEKL | 
    400:
    LLAVLKTSLI | GMFDSDVNKL | NVSQQPLLDV | EGNLIKMHAA | DLEKPMVEKQ | 
    450:
    DQSPSLRTGE | EKKDVSISRL | REAFSLRHTT | ENKPHSPKTP | EPRRSPLGQK | 
    500:
    RGMLSSSTSG | AISDKGVLRP | QKEAVSSSHG | PSDPTDRAEV | EKDSGHGSTS | 
    550:
    VDSEGFSIPD | TGSHCSSEYA | ASSPGDRGSQ | EHVDSQEKAP | KTDDSFSDVD | 
    600:
    CHSNQEDTGC | KFRVLPQPTN | LATPNTKRFK | KEEILSSSDI | CQKLVNTQDM | 
    650:
    SASQVDVAVK | INKKVVPLDF | SMSSLAKRIK | QLHHEAQQSE | GEQNYRKFRA | 
    700:
    KICPGENQAA | EDELRKEISK | TMFAEMEIIG | QFNLGFIITK | LNEDIFIVDQ | 
    750:
    HATDEKYNFE | MLQQHTVLQG | QRLIAPQTLN | LTAVNEAVLI | ENLEIFRKNG | 
    800:
    FDFVIDENAP | VTERAKLISL | PTSKNWTFGP | QDVDELIFML | SDSPGVMCRP | 
    850:
    SRVKQMFASR | ACRKSVMIGT | ALNTSEMKKL | ITHMGEMDHP | WNCPHGRPTM | 
    862:
    RHIANLGVIS | QN
    3D Structure:
    N/A
    Predicted Eptitope:
    Please Sign in.
    EIAab Sequence  Vaild Sequence:
    Please Sign in.
    Related Databases
    Pfam:
    String:
    SMR:
    KEGG:
    MIM:
    UniGene:
    Uniprot:
     
    FOR
    ELISA Kit for Human Mismatch repair endonuclease PMS2
    Cat.:
    E3164h
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    MSDS:
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    Packing:
    96T
    ELISA Kit for Human Mismatch repair endonuclease PMS2
    Cat.:
    E3164m
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    MSDS:
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    Packing:
    96T
    CLIA Kit for Human Mismatch repair endonuclease PMS2
    Cat.:
    U3164h
    Price:
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    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human Mismatch repair endonuclease PMS2
    Cat.:
    U3164m
    Price:
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    MSDS:
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    Packing:
    96T
    Polyclonal Antibody for Human Mismatch repair endonuclease PMS2
    Cat.:
    P3164Rb-m
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    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Mismatch repair endonuclease PMS2
    Cat.:
    P3164Rb-h
    Price:
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    Packing:
    40ug/0.2ml
    Monoclonal Antibody for Human Mismatch repair endonuclease PMS2
    Monoclonal Antibody for Human Mismatch repair endonuclease PMS2
    Protein for Human Mismatch repair endonuclease PMS2
    Protein for Human Mismatch repair endonuclease PMS2

    R&D Technical Data
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    Precision
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    Recovery
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    Linearity
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    References
    1. 1.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANTS GLN-20 AND GLU-541
      tissue: Endometrial tumor.
    2. 2.
      "PMS2 mRNA, nirs splice variants."
      Tabata Y. , Sameshima E. , Hayashi A. , Iida K. , Mitsuyama M. , Kanai S. , Furuya T. , Saito T.
      Submitted (2003-02) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 4);VARIANT GLU-541
    3. 3.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1);VARIANTS SER-470 AND GLU-541
    4. 4.
      "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , more...
      Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1);VARIANTS SER-470 AND GLU-541
      tissue: Amygdala.
    5. 5.
      "The DNA sequence of human chromosome 7."
      Hillier L.W. , Fulton R.S. , Fulton L.A. , Graves T.A. , Pepin K.H. , Wagner-McPherson C. , Layman D. , Maas J. , Jaeger S. , Walker R. , Wylie K. , Sekhon M. , Becker M.C. , O'Laughlin M.D. , Schaller M.E. , Fewell G.A. , Delehaunty K.D. , Miner T.L. , more...
      Nature424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    6. 6.
      "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1);VARIANTS GLU-541 AND ILE-622
      tissue: Brain.
    7. 7.
      "BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures."
      Wang Y. , Cortez D. , Yazdi P. , Neff N. , Elledge S.J. , Qin J.
      Genes Dev.14:927-939(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION OF PMS2 AS MEMBER OF BASC
    8. 8.
      "Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer."
      Worthley D.L. , Walsh M.D. , Barker M. , Ruszkiewicz A. , Bennett G. , Phillips K. , Suthers G.
      Gastroenterology128:1431-1436(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN HNPCC4
    9. 9.
      "Endonucleolytic function of MutLalpha in human mismatch repair."
      Kadyrov F.A. , Dzantiev L. , Constantin N. , Modrich P.
      Cell126:297-308(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION AS AN ENDONUCLEASE
    10. 10.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN HNPCC4
    11. 11.
      "Direct visualization of asymmetric adenine nucleotide-induced conformational changes in MutL alpha."
      Sacho E.J. , Kadyrov F.A. , Modrich P. , Kunkel T.A. , Erie D.A.
      Mol. Cell29:112-121(2008) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION
    12. 12.
      "Human mismatch repair: reconstitution of a nick-directed bidirectional reaction."
      Constantin N. , Dzantiev L. , Kadyrov F.A. , Modrich P.
      J. Biol. Chem.280:39752-39761(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW
    13. 13.
      "MutLalpha: at the cutting edge of mismatch repair."
      Jiricny J.
      Cell126:239-241(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW
    14. 14.
      "Mechanisms and functions of DNA mismatch repair."
      Li G.M.
      Cell Res.18:85-98(2008) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW
    15. 15.
      "A genetic screen identifies FAN1, a Fanconi anemia-associated nuclease necessary for DNA interstrand crosslink repair."
      Smogorzewska A. , Desetty R. , Saito T.T. , Schlabach M. , Lach F.P. , Sowa M.E. , Clark A.B. , Kunkel T.A. , Harper J.W. , Colaiacovo M.P. , Elledge S.J.
      Mol. Cell39:36-47(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH MTMR15
    16. 16.
      "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V. , Vermeulen M. , Santamaria A. , Kumar C. , Miller M.L. , Jensen L.J. , Gnad F. , Cox J. , Jensen T.S. , Nigg E.A. , Brunak S. , Mann M.
      Sci. Signal.3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-597;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
      tissue: Cervix carcinoma.
    17. 17.
      "Structure and function of the N-terminal 40 kDa fragment of human PMS2: a monomeric GHL ATPase."
      Guarne A. , Junop M.S. , Yang W.
      EMBO J.20:5521-5531(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (2.7 ANGSTROMS) OF 1-364
    18. 18.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN MMRCS
    19. 19.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT MMRCS LYS-705
    20. 20.
      "Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer."
      Wang Q. , Lasset C. , Desseigne F. , Saurin J.-C. , Maugard C. , Navarro C. , Ruano E. , Descos L. , Trillet-Lenoir V. , Bosset J.-F. , Puisieux A.
      Hum. Genet.105:79-85(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GLN-479; LYS-485; ALA-511; SER-597 AND ILE-622
    21. 21.
      "Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms."
      Yuan Z.Q. , Gottlieb B. , Beitel L.K. , Wong N. , Gordon P.H. , Wang Q. , Puisieux A. , Foulkes W.D. , Trifiro M.
      Hum. Mutat.19:108-113(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: CHARACTERIZATION OF VARIANTS SER-597 AND ILE-622
    22. 22.
      "Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome."
      De Vos M. , Hayward B.E. , Picton S. , Sheridan E. , Bonthron D.T.
      Am. J. Hum. Genet.74:954-964(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN MMRCS
    23. 23.
      "Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation."
      Auclair J. , Leroux D. , Desseigne F. , Lasset C. , Saurin J.C. , Joly M.O. , Pinson S. , Xu X.L. , Montmain G. , Ruano E. , Navarro C. , Puisieux A. , Wang Q.
      Hum. Mutat.28:1084-1090(2007) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT MMRCS ILE-46
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