PMS1

PMS1 homolog 1, mismatch repair system component
PDB rendering based on 2cs1.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 2CS1​
Identifiers
Symbols	PMS1 ; HNPCC3; MLH2; PMSL1; hPMS1
External IDs	OMIM: 600258 MGI: 1202302 HomoloGene: 449 GeneCards: PMS1 Gene
Gene ontology Molecular function • DNA binding • single-stranded DNA binding • ATP binding • ATPase activity • mismatched DNA binding Cellular component • nucleus • MutLalpha complex Biological process • mismatch repair Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	5378	227099
Ensembl	ENSG00000064933	ENSMUSG00000026098
UniProt	P54277	Q8K119
RefSeq (mRNA)	NM_000534	NM_153556
RefSeq (protein)	NP_000525	NP_705784
Location (UCSC)	Chr 2: 189.78 – 189.88 Mb	Chr 1: 53.19 – 53.3 Mb
PubMed search

PMS1 protein homolog 1 is a protein that in humans is encoded by the PMS1 gene.^[1][2]

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.^[2]

References

1. Nicolaides NC, Papadopoulos N, Liu B, Wei YF, Carter KC, Ruben SM, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM (Sep 1994). "Mutations of two PMS homologues in hereditary nonpolyposis colon cancer". Nature 371 (6492): 75–80. doi:10.1038/371075a0. PMID 8072530.
2. "Entrez Gene: PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae)".

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, Shimada M, Nakamura Y (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, Ruben SM, Carter KC, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM, Adams MD (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, Akiyama Y, Yuasa Y, Maruyama K (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, Dengler H, Droese M, Berger H (1999). "Expression of DNA mismatch repair genes in naevi". In Vivo 13 (3): 251–4. PMID 10459502.
• Wang Q, Lasset C, Desseigne F, Saurin JC, Maugard C, Navarro C, Ruano E, Descos L, Trillet-Lenoir V, Bosset JF, Puisieux A (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.
• Plotz G, Raedle J, Brieger A, Trojan J, Zeuzem S (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.
• Kotoula V, Hytiroglou P, Kaloutsi V, Barbanis S, Kouidou S, Papadimitriou CS (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.
• Plotz G, Raedle J, Brieger A, Trojan J, Zeuzem S (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.
• 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.
• Okada T, Noji S, Goto Y, Iwata T, Fujita T, Okada T, Matsuzaki Y, Kuwana M, Hirakata M, Horii A, Matsuno S, Sunamura M, Kawakami Y (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, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (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, Schlapbach R, Jiricny J (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.