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:
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 |
Vaild Sequence:
Related Databases
Uniprot:
ELISA Kit
CLIA Kit
Polyclonal Antibody
Monoclonal Antibody
Protein
FOR
Human
Mouse
ELISA Kit for Human Mismatch repair endonuclease PMS2
ELISA Kit for Human Mismatch repair endonuclease PMS2
CLIA Kit for Human Mismatch repair endonuclease PMS2
CLIA Kit for Human Mismatch repair endonuclease PMS2
Polyclonal Antibody for Human Mismatch repair endonuclease PMS2
Polyclonal Antibody for Human Mismatch repair endonuclease PMS2
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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[
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[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
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Endometrial tumor .
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[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
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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 .
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[
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.
[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.
[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.
[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
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[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
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[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
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[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.
[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.
[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.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : REVIEW
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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.
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Sci. Signal.3:RA3-RA3(2010)
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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.
[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
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PubMed ]
[
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[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
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[
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[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.
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[
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.
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Cited for : CHARACTERIZATION OF VARIANTS SER-597 AND ILE-622
22.
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Cited for : INVOLVEMENT IN MMRCS
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 ]
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Cited for : VARIANT MMRCS ILE-46