PMS1 (PMS1 postmeiotic segregation increased 1 (S. cerevisiae))

2005-12-01   Enric Domingo , Simo Schwartz Jr 

Oncologia Molecular i Envelliment, Centre dInvestigacions en Bioqumica i Biologia Molecular (CIBBIM) Hospital Universitari Vall dHebron Passeig Vall dHebron 119-129 Barcelona 08035, Catalonia, Spain

Identity

HGNC
LOCATION
2q32.2
LOCUSID
ALIAS
HNPCC3,MLH2,PMSL1,hPMS1
FUSION GENES

DNA/RNA

Atlas Image
Diagram of the PMS1 gene. Exons are represented by boxes (in scale) transcribed and untranscribed sequences in blue and yellow, with exon numbers on top and number of base pairs at the bottom. Introns are represented by black bars (not in scale) and the number of base pairs indicated. The arrows show the ATG and the stop codons respectively.

Description

The PMS1 gene is composed of 13 exons spanning in a region of 93056 bp.

Transcription

The transcribed mRNA has 3032 bp

Proteins

Description

Amino acids: 932. Molecular Weight: 105830 Daltons. PMS1 is a protein involved in the mismatch repair process after DNA replication.

Function

PMS1 binds to MLH1 to form a heterodimer, although MLH1 can also bind to PMS2 or MLH3. Although MLH1/PMS2 binds to the heteroduplexes MutSa (composed of MSH2 and MSH6) or MutSβ (composed of MSH2 and MSH3), which recognize DNA lesions, it remains to be demonstrated the involvement of the MLH1/PMS1 heterodimer in the mismatch repair process, despite that the heterodimer MLH1/PMS2 is responsible for the recruitment of the proteins needed for the excision and repair synthesis.

Homology

PMS1 is homologue to the bacterial MutL gene and to the Mlh2 gene in yeasts.

Mutations

Germinal

A truncating germline mutation of PMS1 was found in one HNPCC patient. Nevertheless, a MSH2 mutation was found in this family, which was the only one that co-segregated with colon cancer. In addition, no more HNPCC patients have been found with mutations in this gene, and PMS1 -/- mice show no discernible phenotype. So there is no evidence that PMS1 mutations predispose to HNPCC.

Implicated in

Bibliography

Pubmed IDLast YearTitleAuthors
119008752002DNA mismatch repair defects: role in colorectal carcinogenesis.Jacob S et al
112928422001The interacting domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2.Kondo E et al
116917952001The role of hPMS1 and hPMS2 in predisposing to colorectal cancer.Liu T et al
80725301994Mutations of two PMS homologues in hereditary nonpolyposis colon cancer.Nicolaides NC et al
161363822005Lynch syndrome genes.Peltomäki P et al
95005521998Tumour susceptibility and spontaneous mutation in mice deficient in Mlh1, Pms1 and Pms2 DNA mismatch repair.Prolla TA et al
105422781999Identification of hMutLbeta, a heterodimer of hMLH1 and hPMS1.Räschle M et al
95009941998Isolation and characterization of the 5' region of the human mismatch repair gene hPMS1.Yanagisawa Y et al

Other Information

Locus ID:

NCBI: 5378
MIM: 600258
HGNC: 9121
Ensembl: ENSG00000064933

Variants:

dbSNP: 5378
ClinVar: 5378
TCGA: ENSG00000064933
COSMIC: PMS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000064933ENST00000342075F8W8L1
ENSG00000064933ENST00000374826Q5XG96
ENSG00000064933ENST00000409593P54277
ENSG00000064933ENST00000409823P54277
ENSG00000064933ENST00000409985E9PC40
ENSG00000064933ENST00000418224Q5FBZ9
ENSG00000064933ENST00000420421C9J4L1
ENSG00000064933ENST00000424307E9PC65
ENSG00000064933ENST00000424766C9JF76
ENSG00000064933ENST00000432292B7ZAA0
ENSG00000064933ENST00000441310P54277
ENSG00000064933ENST00000446877C9JKP0
ENSG00000064933ENST00000447232P54277
ENSG00000064933ENST00000447734Q5FBZ7
ENSG00000064933ENST00000450931Q3BDU3
ENSG00000064933ENST00000452382E9PH88
ENSG00000064933ENST00000618056Q5FBZ4
ENSG00000064933ENST00000624204B7ZAA0
ENSG00000064933ENST00000639501Q3BDU3

Expression (GTEx)

0
5
10
15
20
25
30
35

References

Pubmed IDYearTitleCitations
194304792009Genome-wide association study of blood pressure and hypertension.542
196093472009A genome-wide association study of hypertension and blood pressure in African Americans.185
171484522007Characterization of the interactome of the human MutL homologues MLH1, PMS1, and PMS2.59
190124932009Common variants in immune and DNA repair genes and risk for human papillomavirus persistence and progression to cervical cancer.41
167749462006Common variants in mismatch repair genes and risk of invasive ovarian cancer.36
174940522007Polymorphism discovery in 62 DNA repair genes and haplotype associations with risks for lung and head and neck cancers.36
186766802008Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.32
204142542010Recapitulation of two genomewide association studies on blood pressure and essential hypertension in the Korean population.29
196921682010Genetic susceptibility to distinct bladder cancer subphenotypes.25
242042932013Dominant mutations in S. cerevisiae PMS1 identify the Mlh1-Pms1 endonuclease active site and an exonuclease 1-independent mismatch repair pathway.25

Citation

Enric Domingo ; Simo Schwartz Jr

PMS1 (PMS1 postmeiotic segregation increased 1 (S. cerevisiae))

Atlas Genet Cytogenet Oncol Haematol. 2005-12-01

Online version: http://atlasgeneticsoncology.org/gene/345/pms1id345ch2q31