Names & Taxonomy
- Uniprot ID:
- P54278
- Entry Name:
- PMS2_HUMAN
- Status:
- reviewed
- Protein Names:
- Mismatch repair endonuclease PMS2 (EC 3.1.-.-) (DNA mismatch repair protein PMS2) (PMS1 protein homolog 2)
- Gene Names:
- PMS2 PMSL2
- Gene Names Primary:
- PMS2
- Organism:
- Homo sapiens (Human)
Structure
- Length:
- 862
- Sequence:
- MERAESSSTEPAKAIKPIDRKSVHQICSGQVVLSLSTAVKELVENSLDAGATNIDLKLKDYGVDLIEVSDNGCGVEEENFEGLTLKHHTSKIQEFADLTQVETFGFRGEALSSLCALSDVTISTCHASAKVGTRLMFDHNGKIIQKTPYPRPRGTTVSVQQLFSTLPVRHKEFQRNIKKEYAKMVQVLHAYCIISAGIRVSCTNQLGQGKRQPVVCTGGSPSIKENIGSVFGQKQLQSLIPFVQLPPSDSVCEEYGLSCSDALHNLFYISGFISQCTHGVGRSSTDRQFFFINRRPCDPAKVCRLVNEVYHMYNRHQYPFVVLNISVDSECVDINVTPDKRQILLQEEKLLLAVLKTSLIGMFDSDVNKLNVSQQPLLDVEGNLIKMHAADLEKPMVEKQDQSPSLRTGEEKKDVSISRLREAFSLRHTTENKPHSPKTPEPRRSPLGQKRGMLSSSTSGAISDKGVLRPQKEAVSSSHGPSDPTDRAEVEKDSGHGSTSVDSEGFSIPDTGSHCSSEYAASSPGDRGSQEHVDSQEKAPKTDDSFSDVDCHSNQEDTGCKFRVLPQPTNLATPNTKRFKKEEILSSSDICQKLVNTQDMSASQVDVAVKINKKVVPLDFSMSSLAKRIKQLHHEAQQSEGEQNYRKFRAKICPGENQAAEDELRKEISKTMFAEMEIIGQFNLGFIITKLNEDIFIVDQHATDEKYNFEMLQQHTVLQGQRLIAPQTLNLTAVNEAVLIENLEIFRKNGFDFVIDENAPVTERAKLISLPTSKNWTFGPQDVDELIFMLSDSPGVMCRPSRVKQMFASRACRKSVMIGTALNTSEMKKLITHMGEMDHPWNCPHGRPTMRHIANLGVISQN
- Proteomes:
- UP000005640
Subcellular location
- Subcellular Location:
- Nucleus
Function
- 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.
- Gene Ontology Go:
- cytoplasm
microtubule cytoskeleton
MutLalpha complex
nucleoplasm
nucleus
ATP binding
ATPase activity
DNA binding
endonuclease activity
single base insertion or deletion binding
DNA repair
mismatch repair
nucleic acid phosphodiester bond hydrolysis
response to drug
somatic hypermutation of immunoglobulin genes - Gene Ontology Biological Process:
- DNA repair
mismatch repair
nucleic acid phosphodiester bond hydrolysis
response to drug
somatic hypermutation of immunoglobulin genes - Gene Ontology Molecular Function:
- ATPase activity
ATP binding
DNA binding
endonuclease activity
single base insertion or deletion binding - Gene Ontology Cellular Component:
- cytoplasm
microtubule cytoskeleton
MutLalpha complex
nucleoplasm
nucleus - Keywords:
- 3D-structure
Alternative splicing
Complete proteome
DNA damage
DNA repair
Disease mutation
Endonuclease
Hereditary nonpolyposis colorectal cancer
Hydrolase
Nuclease
Nucleus
Phosphoprotein
Polymorphism
Reference proteome
Tumor suppressor - Interacts With:
- P40692