PMS1

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PMS1
Protein PMS1 PDB 2cs1.png
Available structures
PDB Human UniProt search: PDBe RCSB
Identifiers
Aliases PMS1, HNPCC3, PMSL1, hMLH2, PMS1 homolog 1, mismatch repair system component
External IDs MGI: 1202302 HomoloGene: 449 GeneCards: 5378
RNA expression pattern
PBB GE PMS1 213677 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_153556

RefSeq (protein)

NP_000525.1
NP_001121615.1
NP_001121616.1
NP_001276337.1

n/a

Location (UCSC) Chr 2: 189.78 – 189.88 Mb Chr 1: 53.19 – 53.3 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

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, 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. ^ a b "Entrez Gene: PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae)". 

Further reading[edit]