Langbahn Team – Weltmeisterschaft

PMS1

PMS1
Available structures
PDBHuman UniProt search: PDBe RCSB
Identifiers
AliasesPMS1, HNPCC3, PMSL1, hMLH2, PMS1 homolog 1, mismatch repair system component
External IDsOMIM: 600258; MGI: 1202302; HomoloGene: 449; GeneCards: PMS1; OMA:PMS1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_153556

RefSeq (protein)

n/a

Location (UCSC)Chr 2: 189.78 – 189.88 MbChr 1: 53.23 – 53.34 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

PMS1 protein homolog 1 is a protein that in humans is encoded by the PMS1 gene.[5][6]

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.[6]

Yeast studies

In the yeast Saccharomyces cerevisiae, the MSH2, MLH1 and PMS1 proteins are required for repair of DNA base pair mismatches, thus contributing to mutation avoidance.[7] The MLH1 and PMS1 proteins physically associate, likely forming a heterodimer which then interacts with the MSH2 protein to form a ternary complex that acts in the initiation of DNA mismatch repair.[7] The nucleotide sequence of the PMS1 gene from S. cerevisiae has a 2,712-base pair open reading frame and a predicted molecular mass of 103 kilodaltons.[8] The deduced amino acid sequence encoded by the PMS1 gene of S. cerevisiae exhibits homology to the sequences of the mutL gene of the bacteria Salmonella typimurium and the hexB gene of the bacteria Streptococcus pneumoniae, and these two genes are also required for DNA mismatch repair in their respective organisms.[8]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000064933Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026098Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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. Bibcode:1994Natur.371...75N. doi:10.1038/371075a0. PMID 8072530. S2CID 4244907.
  6. ^ a b "Entrez Gene: PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae)".
  7. ^ a b Prolla TA, Pang Q, Alani E, Kolodner RD, Liskay RM (August 1994). "MLH1, PMS1, and MSH2 interactions during the initiation of DNA mismatch repair in yeast". Science. 265 (5175): 1091–3. doi:10.1126/science.8066446. PMID 8066446.
  8. ^ a b Kramer W, Kramer B, Williamson MS, Fogel S (October 1989). "Cloning and nucleotide sequence of DNA mismatch repair gene PMS1 from Saccharomyces cerevisiae: homology of PMS1 to procaryotic MutL and HexB". J Bacteriol. 171 (10): 5339–46. doi:10.1128/jb.171.10.5339-5346.1989. PMC 210371. PMID 2676974.

Further reading