Biology:PMS1

Short description: Protein-coding gene in the species Homo sapiens

Generic protein structure example

PMS1 protein homolog 1 is a protein that in humans is encoded by the PMS1 gene.

Function

The protein encoded by this gene was identified by its homology to a yeast protein involved in DNA mismatch repair. A role for this protein in mismatch repair has not been proven. However, the protein forms heterodimers with MLH1, a DNA mismatch repair protein, and some cases of hereditary nonpolyposis colorectal cancer have been found to have mutations in this gene.

Further reading

• "Biochemistry and genetics of eukaryotic mismatch repair". Genes Dev. 10 (12): 1433–42. 1996. doi:10.1101/gad.10.12.1433. PMID 8666228. 
• "Cloning, characterization and chromosomal assignment of the human genes homologous to yeast PMS1, a member of mismatch repair genes". Biochem. Biophys. Res. Commun. 204 (3): 1257–64. 1994. doi:10.1006/bbrc.1994.2598. PMID 7980603. 
• "Mutation of a mutL homolog in hereditary colon cancer". Science 263 (5153): 1625–9. 1994. doi:10.1126/science.8128251. PMID 8128251. Bibcode: 1994Sci...263.1625P. 
• "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. 1997. doi:10.1101/gr.6.9.791. PMID 8889548. 
• "Isolation and characterization of the 5' region of the human mismatch repair gene hPMS1". Biochem. Biophys. Res. Commun. 243 (3): 738–43. 1998. doi:10.1006/bbrc.1998.8165. PMID 9500994. 
• "Expression of DNA mismatch repair genes in naevi". In Vivo 13 (3): 251–4. 1999. PMID 10459502. 
• "Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer". Hum. Genet. 105 (1–2): 79–85. 1999. doi:10.1007/s004390051067. PMID 10480359. 
• "Identification of mismatch repair protein complexes in HeLa nuclear extracts and their interaction with heteroduplex DNA". J. Biol. Chem. 275 (23): 17808–13. 2000. doi:10.1074/jbc.M909794199. PMID 10748159. 
• "Assignment of the human postmeiotic segregation increased (S. cerevisiae) 1 (PMS1) to chromosome 2q31.1 by radiation hybrid mapping". Cytogenet. Cell Genet. 88 (3–4): 200–1. 2000. doi:10.1159/000015546. PMID 10828585. 
• "The interacting domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2". Nucleic Acids Res. 29 (8): 1695–702. 2001. doi:10.1093/nar/29.8.1695. PMID 11292842. 
• "hMutSα forms an ATP-dependent complex with hMutLα and hMutLβ on DNA". Nucleic Acids Res. 30 (3): 711–8. 2002. doi:10.1093/nar/30.3.711. PMID 11809883. 
• "Mismatch repair gene expression in malignant lymphoproliferative disorders of B-cell origin". Leuk. Lymphoma 43 (2): 393–9. 2003. doi:10.1080/10428190290006215. PMID 11999575. 
• "N-terminus of hMLH1 confers interaction of hMutLα and hMutLβ with hMutSα". Nucleic Acids Res. 31 (12): 3217–26. 2003. doi:10.1093/nar/gkg420. PMID 12799449. 
• "ATM-Mediated Stabilization of hMutL DNA Mismatch Repair Proteins Augments p53 Activation during DNA Damage". Mol. Cell. Biol. 24 (14): 6430–44. 2004. doi:10.1128/MCB.24.14.6430-6444.2004. PMID 15226443. 
• "Immune responses to DNA mismatch repair enzymes hMSH2 and hPMS1 in patients with pancreatic cancer, dermatomyositis and polymyositis". Int. J. Cancer 116 (6): 925–33. 2005. doi:10.1002/ijc.21118. PMID 15856462. 
• "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. 2005. doi:10.1038/nature04209. PMID 16189514. Bibcode: 2005Natur.437.1173R. 
• "Characterization of the interactome of the human MutL homologues MLH1, PMS1, and PMS2". J. Biol. Chem. 282 (5): 2976–86. 2007. doi:10.1074/jbc.M609989200. PMID 17148452.