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{{ | '''PMS1 protein homolog 1''' is a [[protein]] that in humans is encoded by the ''PMS1'' [[gene]].<ref name="pmid8072530">{{cite journal | vauthors = Nicolaides NC, Papadopoulos N, Liu B, Wei YF, Carter KC, Ruben SM, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM | title = Mutations of two PMS homologues in hereditary nonpolyposis colon cancer | journal = Nature | volume = 371 | issue = 6492 | pages = 75–80 | date = Sep 1994 | pmid = 8072530 | pmc = | doi = 10.1038/371075a0 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5378| accessdate = }}</ref> | ||
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== 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 [[protein dimer|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.<ref name="entrez" /> | |||
==References== | == References == | ||
{{reflist | {{reflist}} | ||
==Further reading== | |||
== Further reading == | |||
{{refbegin | 2}} | {{refbegin | 2}} | ||
* {{cite journal | vauthors = Kolodner R | title = Biochemistry and genetics of eukaryotic mismatch repair | journal = Genes Dev. | volume = 10 | issue = 12 | pages = 1433–42 | year = 1996 | pmid = 8666228 | doi = 10.1101/gad.10.12.1433 }} | |||
* {{cite journal | vauthors = Horii A, Han HJ, Sasaki S, Shimada M, Nakamura Y | title = Cloning, characterization and chromosomal assignment of the human genes homologous to yeast PMS1, a member of mismatch repair genes | journal = Biochem. Biophys. Res. Commun. | volume = 204 | issue = 3 | pages = 1257–64 | year = 1994 | pmid = 7980603 | doi = 10.1006/bbrc.1994.2598 }} | |||
*{{cite journal | * {{cite journal | vauthors = Papadopoulos N, Nicolaides NC, Wei YF, Ruben SM, Carter KC, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM, Adams MD | title = Mutation of a mutL homolog in hereditary colon cancer | journal = Science | volume = 263 | issue = 5153 | pages = 1625–9 | year = 1994 | pmid = 8128251 | doi = 10.1126/science.8128251 }} | ||
*{{cite journal | * {{cite journal | vauthors = Bonaldo MF, Lennon G, Soares MB | title = Normalization and subtraction: two approaches to facilitate gene discovery | journal = Genome Res. | volume = 6 | issue = 9 | pages = 791–806 | year = 1997 | pmid = 8889548 | doi = 10.1101/gr.6.9.791 }} | ||
*{{cite journal | * {{cite journal | vauthors = Yanagisawa Y, Ito E, Iwahashi Y, Akiyama Y, Yuasa Y, Maruyama K | title = Isolation and characterization of the 5' region of the human mismatch repair gene hPMS1 | journal = Biochem. Biophys. Res. Commun. | volume = 243 | issue = 3 | pages = 738–43 | year = 1998 | pmid = 9500994 | doi = 10.1006/bbrc.1998.8165 }} | ||
* {{cite journal | vauthors = Korabiowska M, Brinck U, Ruschenburg I, Dengler H, Droese M, Berger H | title = Expression of DNA mismatch repair genes in naevi | journal = In Vivo | volume = 13 | issue = 3 | pages = 251–4 | year = 1999 | pmid = 10459502 | doi = }} | |||
*{{cite journal | * {{cite journal | vauthors = Wang Q, Lasset C, Desseigne F, Saurin JC, Maugard C, Navarro C, Ruano E, Descos L, Trillet-Lenoir V, Bosset JF, Puisieux A | title = Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer | journal = Hum. Genet. | volume = 105 | issue = 1–2 | pages = 79–85 | year = 1999 | pmid = 10480359 | doi = 10.1007/s004390051067 }} | ||
*{{cite journal | * {{cite journal | vauthors = Matton N, Simonetti J, Williams K | title = Identification of mismatch repair protein complexes in HeLa nuclear extracts and their interaction with heteroduplex DNA | journal = J. Biol. Chem. | volume = 275 | issue = 23 | pages = 17808–13 | year = 2000 | pmid = 10748159 | doi = 10.1074/jbc.M909794199 }} | ||
*{{cite journal | * {{cite journal | vauthors = Alvarez Soria MA, Justesen J, Hansen LL | title = Assignment of the human postmeiotic segregation increased (S. cerevisiae) 1 (PMS1) to chromosome 2q31.1 by radiation hybrid mapping | journal = Cytogenet. Cell Genet. | volume = 88 | issue = 3–4 | pages = 200–1 | year = 2000 | pmid = 10828585 | doi = 10.1159/000015546 }} | ||
*{{cite journal | * {{cite journal | vauthors = Kondo E, Horii A, Fukushige S | title = The interacting domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2 | journal = Nucleic Acids Res. | volume = 29 | issue = 8 | pages = 1695–702 | year = 2001 | pmid = 11292842 | pmc = 31313 | doi = 10.1093/nar/29.8.1695 }} | ||
*{{cite journal | * {{cite journal | vauthors = Plotz G, Raedle J, Brieger A, Trojan J, Zeuzem S | title = hMutSα forms an ATP-dependent complex with hMutLα and hMutLβ on DNA | journal = Nucleic Acids Res. | volume = 30 | issue = 3 | pages = 711–8 | year = 2002 | pmid = 11809883 | pmc = 100294 | doi = 10.1093/nar/30.3.711 }} | ||
*{{cite journal | * {{cite journal | vauthors = Kotoula V, Hytiroglou P, Kaloutsi V, Barbanis S, Kouidou S, Papadimitriou CS | title = Mismatch repair gene expression in malignant lymphoproliferative disorders of B-cell origin | journal = Leuk. Lymphoma | volume = 43 | issue = 2 | pages = 393–9 | year = 2003 | pmid = 11999575 | doi = 10.1080/10428190290006215 }} | ||
*{{cite journal | * {{cite journal | vauthors = Plotz G, Raedle J, Brieger A, Trojan J, Zeuzem S | title = N-terminus of hMLH1 confers interaction of hMutLα and hMutLβ with hMutSα | journal = Nucleic Acids Res. | volume = 31 | issue = 12 | pages = 3217–26 | year = 2003 | pmid = 12799449 | pmc = 162253 | doi = 10.1093/nar/gkg420 }} | ||
*{{cite journal | * {{cite journal | vauthors = Luo Y, Lin FT, Lin WC | title = ATM-Mediated Stabilization of hMutL DNA Mismatch Repair Proteins Augments p53 Activation during DNA Damage | journal = Mol. Cell. Biol. | volume = 24 | issue = 14 | pages = 6430–44 | year = 2004 | pmid = 15226443 | pmc = 434232 | doi = 10.1128/MCB.24.14.6430-6444.2004 }} | ||
*{{cite journal | * {{cite journal | vauthors = 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 | title = Immune responses to DNA mismatch repair enzymes hMSH2 and hPMS1 in patients with pancreatic cancer, dermatomyositis and polymyositis | journal = Int. J. Cancer | volume = 116 | issue = 6 | pages = 925–33 | year = 2005 | pmid = 15856462 | doi = 10.1002/ijc.21118 }} | ||
* {{cite journal | vauthors = 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 | title = Towards a proteome-scale map of the human protein-protein interaction network | journal = Nature | volume = 437 | issue = 7062 | pages = 1173–8 | year = 2005 | pmid = 16189514 | doi = 10.1038/nature04209 }} | |||
*{{cite journal | * {{cite journal | vauthors = Cannavo E, Gerrits B, Marra G, Schlapbach R, Jiricny J | title = Characterization of the interactome of the human MutL homologues MLH1, PMS1, and PMS2 | journal = J. Biol. Chem. | volume = 282 | issue = 5 | pages = 2976–86 | year = 2007 | pmid = 17148452 | doi = 10.1074/jbc.M609989200 }} | ||
*{{cite journal | |||
*{{cite journal | |||
*{{cite journal | |||
*{{cite journal | |||
}} | |||
{{refend}} | {{refend}} | ||
{{ | {{PDB Gallery|geneid=5378}} | ||
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{{gene-2-stub}} |
Latest revision as of 18:21, 7 September 2017
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External IDs | GeneCards: [1] | ||||||
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Species | Human | Mouse | |||||
Entrez |
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Ensembl |
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UniProt |
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RefSeq (mRNA) |
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RefSeq (protein) |
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Location (UCSC) | n/a | n/a | |||||
PubMed search | n/a | n/a | |||||
Wikidata | |||||||
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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
- ↑ 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.
- ↑ 2.0 2.1 "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.
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