PMS1

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

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
Gene location (Human)
Chr.Chromosome 2 (human)[1]
Band2q32.2Start189,784,085 bp[1]
End189,877,629 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

5378

227099

Ensembl

ENSG00000064933

ENSMUSG00000026098

UniProt

P54277
Q5FBZ4

n/a

RefSeq (mRNA)

NM_153556

RefSeq (protein)

n/a

Location (UCSC)Chr 2: 189.78 – 189.88 MbChr 1: 53.19 – 53.3 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

References

  1. GRCh38: Ensembl release 89: ENSG00000064933 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000026098 - Ensembl, 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. doi:10.1038/371075a0. PMID 8072530. S2CID 4244907.
  6. "Entrez Gene: PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae)".

Further reading


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