PMS1

From Wikipedia, the free encyclopedia

PMS1 postmeiotic segregation increased 1 (S. cerevisiae)

PDB rendering based on 2cs1.

Available structures

Ortholog search: PDBe, RCSB

List of PDB id codes
2CS1

Identifiers

PMS1; HNPCC3; 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 • MutSalpha complex binding
Cellular component	• nucleus • mismatch repair complex • 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

ENSG00000064933

ENSMUSG00000026098

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 2:
190.65 – 190.74 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]

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 (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 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.
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.
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.
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.
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 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.

PDB gallery

2cs1: Solution structure of the HMG domain of human DNA mismatch repair protein

This article is issued from Wikipedia. The text is available under the Creative Commons Attribution/Share Alike; additional terms may apply for the media files.