PMS1
PMS1 postmeiotic segregation increased 1 (S. cerevisiae) | |||||||||||||
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File:PBB Protein PMS1 image.jpg PDB rendering based on 2cs1. | |||||||||||||
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Identifiers | |||||||||||||
Symbols | PMS1 ; DKFZp781M0253; HNPCC3; PMSL1; hPMS1 | ||||||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 449 | ||||||||||||
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RNA expression pattern | |||||||||||||
File:PBB GE PMS1 213677 s at tn.png | |||||||||||||
More reference expression data | |||||||||||||
Orthologs | |||||||||||||
Template:GNF Ortholog box | |||||||||||||
Species | Human | Mouse | |||||||||||
Entrez | n/a | n/a | |||||||||||
Ensembl | n/a | n/a | |||||||||||
UniProt | n/a | n/a | |||||||||||
RefSeq (mRNA) | n/a | n/a | |||||||||||
RefSeq (protein) | n/a | n/a | |||||||||||
Location (UCSC) | n/a | n/a | |||||||||||
PubMed search | n/a | n/a |
PMS1 postmeiotic segregation increased 1 (S. cerevisiae), also known as PMS1, is a human gene.[1]
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.[1]
References
Further reading
- Kolodner R (1996). "Biochemistry and genetics of eukaryotic mismatch repair". Genes Dev. 10 (12): 1433–42. 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.
- Nicolaides NC, Papadopoulos N, Liu B; et al. (1994). "Mutations of two PMS homologues in hereditary nonpolyposis colon cancer". Nature. 371 (6492): 75–80. doi:10.1038/371075a0. PMID 8072530.
- Papadopoulos N, Nicolaides NC, Wei YF; et al. (1994). "Mutation of a mutL homolog in hereditary colon cancer". Science. 263 (5153): 1625–9. PMID 8128251.
- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. 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. 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. 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. PMID 11292842.
- Plotz G, Raedle J, Brieger A; et al. (2002). "hMutSalpha forms an ATP-dependent complex with hMutLalpha and hMutLbeta on DNA". Nucleic Acids Res. 30 (3): 711–8. PMID 11809883.
- 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. 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. PMID 12477932.
- Plotz G, Raedle J, Brieger A; et al. (2003). "N-terminus of hMLH1 confers interaction of hMutLalpha and hMutLbeta with hMutSalpha". Nucleic Acids Res. 31 (12): 3217–26. 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. PMID 15226443.
- 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.
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