Mismatch repair endonuclease PMS2

Details

Name
Mismatch repair endonuclease PMS2
Synonyms
  • 3.1.-.-
  • DNA mismatch repair protein PMS2
  • PMS1 protein homolog 2
  • PMSL2
Gene Name
PMS2
Organism
Humans
Amino acid sequence
>lcl|BSEQ0037213|Mismatch repair endonuclease PMS2
MERAESSSTEPAKAIKPIDRKSVHQICSGQVVLSLSTAVKELVENSLDAGATNIDLKLKD
YGVDLIEVSDNGCGVEEENFEGLTLKHHTSKIQEFADLTQVETFGFRGEALSSLCALSDV
TISTCHASAKVGTRLMFDHNGKIIQKTPYPRPRGTTVSVQQLFSTLPVRHKEFQRNIKKE
YAKMVQVLHAYCIISAGIRVSCTNQLGQGKRQPVVCTGGSPSIKENIGSVFGQKQLQSLI
PFVQLPPSDSVCEEYGLSCSDALHNLFYISGFISQCTHGVGRSSTDRQFFFINRRPCDPA
KVCRLVNEVYHMYNRHQYPFVVLNISVDSECVDINVTPDKRQILLQEEKLLLAVLKTSLI
GMFDSDVNKLNVSQQPLLDVEGNLIKMHAADLEKPMVEKQDQSPSLRTGEEKKDVSISRL
REAFSLRHTTENKPHSPKTPEPRRSPLGQKRGMLSSSTSGAISDKGVLRPQKEAVSSSHG
PSDPTDRAEVEKDSGHGSTSVDSEGFSIPDTGSHCSSEYAASSPGDRGSQEHVDSQEKAP
KTDDSFSDVDCHSNQEDTGCKFRVLPQPTNLATPNTKRFKKEEILSSSDICQKLVNTQDM
SASQVDVAVKINKKVVPLDFSMSSLAKRIKQLHHEAQQSEGEQNYRKFRAKICPGENQAA
EDELRKEISKTMFAEMEIIGQFNLGFIITKLNEDIFIVDQHATDEKYNFEMLQQHTVLQG
QRLIAPQTLNLTAVNEAVLIENLEIFRKNGFDFVIDENAPVTERAKLISLPTSKNWTFGP
QDVDELIFMLSDSPGVMCRPSRVKQMFASRACRKSVMIGTALNTSEMKKLITHMGEMDHP
WNCPHGRPTMRHIANLGVISQN
Number of residues
862
Molecular Weight
95795.875
Theoretical pI
6.72
GO Classification
Functions
ATP binding / ATPase activity / DNA binding / endonuclease activity / single base insertion or deletion binding
Processes
DNA repair / mismatch repair / nucleic acid phosphodiester bond hydrolysis / somatic hypermutation of immunoglobulin genes / somatic recombination of immunoglobulin gene segments
Components
cytoplasm / microtubule cytoskeleton / MutLalpha complex / nucleoplasm / nucleus
General Function
Single base insertion or deletion binding
Specific 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. MutL 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.
Pfam Domain Function
Transmembrane Regions
Not Available
Cellular Location
Nucleus
Gene sequence
>lcl|BSEQ0016910|Mismatch repair endonuclease PMS2 (PMS2)
ATGGAGCGAGCTGAGAGCTCGAGTACAGAACCTGCTAAGGCCATCAAACCTATTGATCGG
AAGTCAGTCCATCAGATTTGCTCTGGGCAGGTGGTACTGAGTCTAAGCACTGCGGTAAAG
GAGTTAGTAGAAAACAGTCTGGATGCTGGTGCCACTAATATTGATCTAAAGCTTAAGGAC
TATGGAGTGGATCTTATTGAAGTTTCAGACAATGGATGTGGGGTAGAAGAAGAAAACTTC
GAAGGCTTAACTCTGAAACATCACACATCTAAGATTCAAGAGTTTGCCGACCTAACTCAG
GTTGAAACTTTTGGCTTTCGGGGGGAAGCTCTGAGCTCACTTTGTGCACTGAGCGATGTC
ACCATTTCTACCTGCCACGCATCGGCGAAGGTTGGAACTCGACTGATGTTTGATCACAAT
GGGAAAATTATCCAGAAAACCCCCTACCCCCGCCCCAGAGGGACCACAGTCAGCGTGCAG
CAGTTATTTTCCACACTACCTGTGCGCCATAAGGAATTTCAAAGGAATATTAAGAAGGAG
TATGCCAAAATGGTCCAGGTCTTACATGCATACTGTATCATTTCAGCAGGCATCCGTGTA
AGTTGCACCAATCAGCTTGGACAAGGAAAACGACAGCCTGTGGTATGCACAGGTGGAAGC
CCCAGCATAAAGGAAAATATCGGCTCTGTGTTTGGGCAGAAGCAGTTGCAAAGCCTCATT
CCTTTTGTTCAGCTGCCCCCTAGTGACTCCGTGTGTGAAGAGTACGGTTTGAGCTGTTCC
GATGCTCTGCATAATCTTTTTTACATCTCAGGTTTCATTTCACAATGCACGCATGGAGTT
GGAAGGAGTTCAACAGACAGACAGTTTTTCTTTATCAACCGGCGGCCTTGTGACCCAGCA
AAGGTCTGCAGACTCGTGAATGAGGTCTACCACATGTATAATCGACACCAGTATCCATTT
GTTGTTCTTAACATTTCTGTTGATTCAGAATGCGTTGATATCAATGTTACTCCAGATAAA
AGGCAAATTTTGCTACAAGAGGAAAAGCTTTTGTTGGCAGTTTTAAAGACCTCTTTGATA
GGAATGTTTGATAGTGATGTCAACAAGCTAAATGTCAGTCAGCAGCCACTGCTGGATGTT
GAAGGTAACTTAATAAAAATGCATGCAGCGGATTTGGAAAAGCCCATGGTAGAAAAGCAG
GATCAATCCCCTTCATTAAGGACTGGAGAAGAAAAAAAAGACGTGTCCATTTCCAGACTG
CGAGAGGCCTTTTCTCTTCGTCACACAACAGAGAACAAGCCTCACAGCCCAAAGACTCCA
GAACCAAGAAGGAGCCCTCTAGGACAGAAAAGGGGTATGCTGTCTTCTAGCACTTCAGGT
GCCATCTCTGACAAAGGCGTCCTGAGACCTCAGAAAGAGGCAGTGAGTTCCAGTCACGGA
CCCAGTGACCCTACGGACAGAGCGGAGGTGGAGAAGGACTCGGGGCACGGCAGCACTTCC
GTGGATTCTGAGGGGTTCAGCATCCCAGACACGGGCAGTCACTGCAGCAGCGAGTATGCG
GCCAGCTCCCCAGGGGACAGGGGCTCGCAGGAACATGTGGACTCTCAGGAGAAAGCGCCT
GAAACTGACGACTCTTTTTCAGATGTGGACTGCCATTCAAACCAGGAAGATACCGGATGT
AAATTTCGAGTTTTGCCTCAGCCAACTAATCTCGCAACCCCAAACACAAAGCGTTTTAAA
AAAGAAGAAATTCTTTCCAGTTCTGACATTTGTCAAAAGTTAGTAAATACTCAGGACATG
TCAGCCTCTCAGGTTGATGTAGCTGTGAAAATTAATAAGAAAGTTGTGCCCCTGGACTTT
TCTATGAGTTCTTTAGCTAAACGAATAAAGCAGTTACATCATGAAGCACAGCAAAGTGAA
GGGGAACAGAATTACAGGAAGTTTAGGGCAAAGATTTGTCCTGGAGAAAATCAAGCAGCC
GAAGATGAACTAAGAAAAGAGATAAGTAAAACGATGTTTGCAGAAATGGAAATCATTGGT
CAGTTTAACCTGGGATTTATAATAACCAAACTGAATGAGGATATCTTCATAGTGGACCAG
CATGCCACGGACGAGAAGTATAACTTCGAGATGCTGCAGCAGCACACCGTGCTCCAGGGG
CAGAGGCTCATAGCACCTCAGACTCTCAACTTAACTGCTGTTAATGAAGCTGTTCTGATA
GAAAATCTGGAAATATTTAGAAAGAATGGCTTTGATTTTGTTATCGATGAAAATGCTCCA
GTCACTGAAAGGGCTAAACTGATTTCCTTGCCAACTAGTAAAAACTGGACCTTCGGACCC
CAGGACGTCGATGAACTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCT
TCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTGATGATTGGGACT
GCTCTTAACACAAGCGAGATGAAGAAACTGATCACCCACATGGGGGAGATGGACCACCCC
TGGAACTGTCCCCATGGAAGGCCAACCATGAGACACATCGCCAACCTGGGTGTCATTTCT
CAGAACTGA
Chromosome Location
7
Locus
7p22.2
External Identifiers
ResourceLink
UniProtKB IDP54278
UniProtKB Entry NamePMS2_HUMAN
GenBank Gene IDU13696
GenAtlas IDPMS2
HGNC IDHGNC:9122
General References
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  19. Yuan ZQ, Gottlieb B, Beitel LK, Wong N, Gordon PH, Wang Q, Puisieux A, Foulkes WD, Trifiro M: Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms. Hum Mutat. 2002 Feb;19(2):108-13. [Article]
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Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB02930Adenosine 5'-[gamma-thio]triphosphateexperimentalunknownDetails