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

Written2005-12Enric Domingo, Simo Schwartz Jr
Oncologia Molecular i Envelliment, Centre d'Investigacions en Bioqumica i Biologia Molecular (CIBBIM) Hospital Universitari Vall d'Hebron Passeig Vall d'Hebron 119-129 Barcelona 08035, Catalonia, Spain

(Note : for Links provided by Atlas : click)

1. Identity

General Information
postmeiotic segregation increased (S. cerevisiae) 1
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
Alias_symbol (synonym)MLH2
Other aliasHNPCC3
HGNC (Hugo) PMS1
LocusID (NCBI) 5378
Atlas_Id 345
Location 2q32.2  [Link to chromosome band 2q32]
Location_base_pair Starts at 189784085 and ends at 189806846 bp from pter ( according to hg19-Feb_2009)  [Mapping PMS1.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
EEF1A1 (6q13) / PMS1 (2q32.2)MYO9A (15q23) / PMS1 (2q32.2)PMS1 (2q32.2) / FN1 (2q35)
PMS1 (2q32.2) / GCG (2q24.2)


  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

3. Protein

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.

4. 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.

5. Bibliography

DNA mismatch repair defects: role in colorectal carcinogenesis.
Jacob S, Praz F
Biochimie. 2002 ; 84 (1) : 27-47.
PMID 11900875
The interacting domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2.
Kondo E, Horii A, Fukushige S
Nucleic acids research. 2001 ; 29 (8) : 1695-1702.
PMID 11292842
The role of hPMS1 and hPMS2 in predisposing to colorectal cancer.
Liu T, Yan H, Kuismanen S, Percesepe A, Bisgaard ML, Pedroni M, Benatti P, Kinzler KW, Vogelstein B, Ponz de Leon M, Peltomäki P, Lindblom A
Cancer research. 2001 ; 61 (21) : 7798-7802.
PMID 11691795
Mutations of two PMS homologues in hereditary nonpolyposis colon cancer.
Nicolaides NC, Papadopoulos N, Liu B, Wei YF, Carter KC, Ruben SM, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM
Nature. 1994 ; 371 (6492) : 75-80.
PMID 8072530
Lynch syndrome genes.
Peltomä P
Familial cancer. 2005 ; 4 (3) : 227-232.
PMID 16136382
Tumour susceptibility and spontaneous mutation in mice deficient in Mlh1, Pms1 and Pms2 DNA mismatch repair.
Prolla TA, Baker SM, Harris AC, Tsao JL, Yao X, Bronner CE, Zheng B, Gordon M, Reneker J, Arnheim N, Shibata D, Bradley A, Liskay RM
Nature genetics. 1998 ; 18 (3) : 276-279.
PMID 9500552
Identification of hMutLbeta, a heterodimer of hMLH1 and hPMS1.
Räschle M, Marra G, Nyström-Lahti M, Schär P, Jiricny J
The Journal of biological chemistry. 1999 ; 274 (45) : 32368-32375.
PMID 10542278
Isolation and characterization of the 5' region of the human mismatch repair gene hPMS1.
Yanagisawa Y, Ito E, Iwahashi Y, Akiyama Y, Yuasa Y, Maruyama K
Biochemical and biophysical research communications. 1998 ; 243 (3) : 738-743.
PMID 9500994

6. Citation

This paper should be referenced as such :
Domingo, E ; Schwartz, S Jr. PMS1 (PMS1 postmeiotic segregation increased 1 (S
Atlas Genet Cytogenet Oncol Haematol. 2006;10(3):157-158.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(2;2)(q24;q32) PMS1/GCG
t(2;15)(q32;q23) MYO9A/PMS1

7. External links

HGNC (Hugo)PMS1   9121
LRG (Locus Reference Genomic)LRG_221
Entrez_Gene (NCBI)PMS1  5378  PMS1 homolog 1, mismatch repair system component
AliasesHNPCC3; MLH2; PMSL1; hPMS1
GeneCards (Weizmann)PMS1
Ensembl hg19 (Hinxton)ENSG00000064933 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000064933 [Gene_View] &nbspENSG00000064933 [Sequence]  chr2:189784085-189806846 [Contig_View]  PMS1 [Vega]
ICGC DataPortalENSG00000064933
TCGA cBioPortalPMS1
AceView (NCBI)PMS1
Genatlas (Paris)PMS1
SOURCE (Princeton)PMS1
Genetics Home Reference (NIH)PMS1
Genomic and cartography
GoldenPath hg38 (UCSC)PMS1  -     chr2:189784085-189806846 +  2q32.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PMS1  -     2q32.2   [Description]    (hg19-Feb_2009)
EnsemblPMS1 - 2q32.2 [CytoView hg19]  PMS1 - 2q32.2 [CytoView hg38]
Mapping of homologs : NCBIPMS1 [Mapview hg19]  PMS1 [Mapview hg38]
OMIM120435   600258   
Gene and transcription
Genbank (Entrez)AB102869 AB102870 AB102871 AB102872 AB102873
RefSeq transcript (Entrez)NM_000534 NM_001128143 NM_001128144 NM_001289408 NM_001289409 NM_001321044 NM_001321045 NM_001321046 NM_001321047 NM_001321048 NM_001321049 NM_001321051
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PMS1
Cluster EST : UnigeneHs.111749 [ NCBI ]
CGAP (NCI)Hs.111749
Alternative Splicing GalleryENSG00000064933
Gene ExpressionPMS1 [ NCBI-GEO ]   PMS1 [ EBI - ARRAY_EXPRESS ]   PMS1 [ SEEK ]   PMS1 [ MEM ]
Gene Expression Viewer (FireBrowse)PMS1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets] &nbsp [Normal Tissue Atlas] &nbsp[carcinoma Classsification] &nbsp[NCI60]
GenevestigatorExpression in : [tissues] &nbsp[cell-lines] &nbsp[cancer] &nbsp[perturbations] &nbsp
BioGPS (Tissue expression)5378
GTEX Portal (Tissue expression)PMS1
Human Protein AtlasENSG00000064933-PMS1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP54277   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP54277  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP54277
Splice isoforms : SwissVarP54277
Domaine pattern : Prosite (Expaxy)DNA_MISMATCH_REPAIR_1 (PS00058)    HMG_BOX_2 (PS50118)   
Domains : Interpro (EBI)DNA_mismatch_repair_C    DNA_mismatch_repair_CS    DNA_mismatch_repair_fam    HATPase_C    HATPase_C_sf    HMG_box_dom    HMG_box_dom_sf    PMS1_hom    Ribosomal_S5_D2-typ_fold    Ribosomal_S5_D2-typ_fold_subgr   
Domain families : Pfam (Sanger)DNA_mis_repair (PF01119)    HMG_box (PF00505)   
Domain families : Pfam (NCBI)pfam01119    pfam00505   
Domain families : Smart (EMBL)DNA_mis_repair (SM01340)  HMG (SM00398)  
Conserved Domain (NCBI)PMS1
DMDM Disease mutations5378
Blocks (Seattle)PMS1
PDB Europe2CS1   
PDB (PDBSum)2CS1   
PDB (IMB)2CS1   
Structural Biology KnowledgeBase2CS1   
SCOP (Structural Classification of Proteins)2CS1   
CATH (Classification of proteins structures)2CS1   
Human Protein Atlas [tissue]ENSG00000064933-PMS1 [tissue]
Peptide AtlasP54277
IPIIPI00005541   IPI00917781   IPI01017921   IPI00916801   IPI00916989   IPI00896518   IPI00386764   IPI00917668   IPI00873522   IPI00479899   IPI00916664   IPI00654710   IPI00917284   IPI00916421   IPI01013621   IPI00917898   
Protein Interaction databases
IntAct (EBI)P54277
Ontologies - Pathways
Ontology : AmiGODNA binding  ATP binding  nucleus  mismatch repair  ATPase activity  enzyme binding  mismatched DNA binding  mismatch repair complex  MutLalpha complex  response to drug  
Ontology : EGO-EBIDNA binding  ATP binding  nucleus  mismatch repair  ATPase activity  enzyme binding  mismatched DNA binding  mismatch repair complex  MutLalpha complex  response to drug  
NDEx NetworkPMS1
Atlas of Cancer Signalling NetworkPMS1
Wikipedia pathwaysPMS1
Orthology - Evolution
GeneTree (enSembl)ENSG00000064933
Phylogenetic Trees/Animal Genes : TreeFamPMS1
Homologs : HomoloGenePMS1
Homology/Alignments : Family Browser (UCSC)PMS1
Gene fusions - Rearrangements
Fusion : MitelmanPMS1/GCG [2q32.2/2q24.2] &nbsp
Fusion PortalPMS1 2q32.2 GCG 2q24.2 BRCA
Fusion : QuiverPMS1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPMS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PMS1
Exome Variant ServerPMS1
ExAC (Exome Aggregation Consortium)ENSG00000064933
GNOMAD BrowserENSG00000064933
Varsome BrowserPMS1
Genetic variants : HAPMAP5378
Genomic Variants (DGV)PMS1 [DGVbeta]
DECIPHERPMS1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPMS1 
ICGC Data PortalPMS1 
TCGA Data PortalPMS1 
Broad Tumor PortalPMS1
OASIS PortalPMS1 [ Somatic mutations - Copy number]
Cancer Gene: CensusPMS1 
Somatic Mutations in Cancer : COSMICPMS1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPMS1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Colon cancer gene variant databases
LOVD (Leiden Open Variation Database)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
BioMutasearch PMS1
DgiDB (Drug Gene Interaction Database)PMS1
DoCM (Curated mutations)PMS1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PMS1 (select a term)
NCG5 (London)PMS1
Cancer3DPMS1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
OMIM120435    600258   
Genetic Testing Registry PMS1
NextProtP54277 [Medical]
Target ValidationPMS1
Huge Navigator PMS1 [HugePedia]
snp3D : Map Gene to Disease5378
BioCentury BCIQPMS1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5378
Chemical/Pharm GKB GenePA33447
Clinical trialPMS1
canSAR (ICR)PMS1 (select the gene name)
DataMed IndexPMS1
PubMed58 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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