PMS1

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PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
Protein PMS1 PDB 2cs1.png
PDB rendering based on 2cs1.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols PMS1 ; HNPCC3; PMSL1; hPMS1
External IDs OMIM600258 MGI1202302 HomoloGene449 GeneCards: PMS1 Gene
RNA expression pattern
PBB GE PMS1 213677 s at tn.png
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:
190.65 – 190.74 Mb
Chr 1:
53.19 – 53.3 Mb
PubMed search [1] [2]

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

Function[edit]

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[edit]

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

Further reading[edit]