PMS1

PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PDB rendering based on 2cs1.
Available structures PDB 2cs1
Identifiers
Symbols	PMS1; DKFZp781M0253; FLJ98259; HNPCC3; PMSL1; hPMS1
External IDs	OMIM: 600258 MGI: 1202302 HomoloGene: 449 GeneCards: PMS1 Gene
Gene Ontology Molecular function • DNA binding • ATP binding • ATPase activity • mismatched DNA binding Cellular component • nucleus • MutLalpha complex Biological process • ATP catabolic process • mismatch repair • reciprocal meiotic recombination Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	5378	227099
Ensembl	ENSG00000064933	ENSMUSG00000026098
UniProt	P54277	n/a
RefSeq (mRNA)	NM_000534.4	NM_153556.1
RefSeq (protein)	NP_000525.1	NP_705784.1
Location (UCSC)	Chr 2: 190.65 – 190.74 Mb	Chr 1: 53.25 – 53.35 Mb
PubMed search	[1]	[2]

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

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

• Kolodner R (1996). "Biochemistry and genetics of eukaryotic mismatch repair". Genes Dev. 10 (12): 1433–42. doi:10.1101/gad.10.12.1433. PMID 8666228. 
• Horii A, Han HJ, Sasaki S et al. (1994). "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. doi:10.1006/bbrc.1994.2598. PMID 7980603. 
• Papadopoulos N, Nicolaides NC, Wei YF et al. (1994). "Mutation of a mutL homolog in hereditary colon cancer". Science 263 (5153): 1625–9. doi:10.1126/science.8128251. PMID 8128251. 
• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548. 
• Yanagisawa Y, Ito E, Iwahashi Y et al. (1998). "Isolation and characterization of the 5' region of the human mismatch repair gene hPMS1". Biochem. Biophys. Res. Commun. 243 (3): 738–43. doi:10.1006/bbrc.1998.8165. PMID 9500994. 
• Korabiowska M, Brinck U, Ruschenburg I et al. (1999). "Expression of DNA mismatch repair genes in naevi". In Vivo 13 (3): 251–4. PMID 10459502. 
• Wang Q, Lasset C, Desseigne F et al. (1999). "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. doi:10.1007/s004390051067. PMID 10480359. 
• Matton N, Simonetti J, Williams K (2000). "Identification of mismatch repair protein complexes in HeLa nuclear extracts and their interaction with heteroduplex DNA". J. Biol. Chem. 275 (23): 17808–13. doi:10.1074/jbc.M909794199. PMID 10748159. 
• Alvarez Soria MA, Justesen J, Hansen LL (2000). "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. doi:10.1159/000015546. PMID 10828585. 
• Kondo E, Horii A, Fukushige S (2001). "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. doi:10.1093/nar/29.8.1695. PMC 31313. PMID 11292842. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=31313. 
• Plotz G, Raedle J, Brieger A et al. (2002). "hMutSα forms an ATP-dependent complex with hMutLα and hMutLβ on DNA". Nucleic Acids Res. 30 (3): 711–8. doi:10.1093/nar/30.3.711. PMC 100294. PMID 11809883. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=100294. 
• Kotoula V, Hytiroglou P, Kaloutsi V et al. (2003). "Mismatch repair gene expression in malignant lymphoproliferative disorders of B-cell origin". Leuk. Lymphoma 43 (2): 393–9. doi:10.1080/10428190290006215. PMID 11999575. 
• Strausberg RL, Feingold EA, Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• Plotz G, Raedle J, Brieger A et al. (2003). "N-terminus of hMLH1 confers interaction of hMutLα and hMutLβ with hMutSα". Nucleic Acids Res. 31 (12): 3217–26. doi:10.1093/nar/gkg420. PMC 162253. PMID 12799449. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=162253. 
• Luo Y, Lin FT, Lin WC (2004). "ATM-Mediated Stabilization of hMutL DNA Mismatch Repair Proteins Augments p53 Activation during DNA Damage". Mol. Cell. Biol. 24 (14): 6430–44. doi:10.1128/MCB.24.14.6430-6444.2004. PMC 434232. PMID 15226443. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=434232. 
• Okada T, Noji S, Goto Y et al. (2005). "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. doi:10.1002/ijc.21118. PMID 15856462. 
• Rual JF, Venkatesan K, Hao T et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514. 
• Cannavo E, Gerrits B, Marra G et al. (2007). "Characterization of the interactome of the human MutL homologues MLH1, PMS1, and PMS2". J. Biol. Chem. 282 (5): 2976–86. doi:10.1074/jbc.M609989200. PMID 17148452.