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

Identity

Other namesHNPCC3
PMSL1
HGNC (Hugo) PMS1
LocusID (NCBI) 5378
Location 2q32.2
Location_base_pair Starts at 190648811 and ends at 190742355 bp from pter ( according to hg19-Feb_2009)  [Mapping]

DNA/RNA

 
  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

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 MutSß (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.

External links

Nomenclature
HGNC (Hugo)PMS1   9121
Cards
AtlasPMS1ID345ch2q31
Entrez_Gene (NCBI)PMS1  5378  PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
GeneCards (Weizmann)PMS1
Ensembl (Hinxton)ENSG00000064933 [Gene_View]  chr2:190648811-190742355 [Contig_View]  PMS1 [Vega]
ICGC DataPortalENSG00000064933
cBioPortalPMS1
AceView (NCBI)PMS1
Genatlas (Paris)PMS1
WikiGenes5378
SOURCE (Princeton)NM_000534 NM_001128143 NM_001128144 NM_001289408 NM_001289409
Genomic and cartography
GoldenPath (UCSC)PMS1  -  2q32.2   chr2:190648811-190742355 +  2q31.1   [Description]    (hg19-Feb_2009)
EnsemblPMS1 - 2q31.1 [CytoView]
Mapping of homologs : NCBIPMS1 [Mapview]
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
RefSeq genomic (Entrez)AC_000134 NC_000002 NC_018913 NG_008648 NT_005403 NW_001838863 NW_004929305
Consensus coding sequences : CCDS (NCBI)PMS1
Cluster EST : UnigeneHs.111749 [ NCBI ]
CGAP (NCI)Hs.111749
Alternative Splicing : Fast-db (Paris)GSHG0017062
Alternative Splicing GalleryENSG00000064933
Gene ExpressionPMS1 [ NCBI-GEO ]     PMS1 [ SEEK ]   PMS1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP54277 (Uniprot)
NextProtP54277  [Medical]
With graphics : InterProP54277
Splice isoforms : SwissVarP54277 (Swissvar)
Domaine pattern : Prosite (Expaxy)DNA_MISMATCH_REPAIR_1 (PS00058)    HMG_BOX_2 (PS50118)   
Domains : Interpro (EBI)DNA_mismatch_repair_C [organisation]   DNA_mismatch_repair_CS [organisation]   DNA_mismatch_repair_fam [organisation]   HATPase_ATP-bd [organisation]   HMG_box_dom [organisation]   Ribosomal_S5_D2-typ_fold [organisation]   Ribosomal_S5_D2-typ_fold_subgr [organisation]  
Related proteins : CluSTrP54277
Domain families : Pfam (Sanger)DNA_mis_repair (PF01119)    HATPase_c (PF02518)    HMG_box (PF00505)   
Domain families : Pfam (NCBI)pfam01119    pfam02518    pfam00505   
Domain families : Smart (EMBL)HATPase_c (SM00387)  HMG (SM00398)  
DMDM Disease mutations5378
Blocks (Seattle)P54277
PDB (SRS)2CS1   
PDB (PDBSum)2CS1   
PDB (IMB)2CS1   
PDB (RSDB)2CS1   
Human Protein AtlasENSG00000064933 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP54277
HPRD02597
IPIIPI00005541   IPI00917781   IPI01017921   IPI00916801   IPI00916989   IPI00896518   IPI00386764   IPI00917668   IPI00873522   IPI00479899   IPI00916664   IPI00654710   IPI00917284   IPI00916421   IPI01013621   IPI00917898   
Protein Interaction databases
DIP (DOE-UCLA)P54277
IntAct (EBI)P54277
FunCoupENSG00000064933
BioGRIDPMS1
InParanoidP54277
Interologous Interaction database P54277
IntegromeDBPMS1
STRING (EMBL)PMS1
Ontologies - Pathways
Ontology : AmiGODNA binding  single-stranded DNA binding  ATP binding  nucleus  ATP catabolic process  mismatch repair  ATPase activity  mismatched DNA binding  MutLalpha complex  response to drug  
Ontology : EGO-EBIDNA binding  single-stranded DNA binding  ATP binding  nucleus  ATP catabolic process  mismatch repair  ATPase activity  mismatched DNA binding  MutLalpha complex  response to drug  
Protein Interaction DatabasePMS1
Wikipedia pathwaysPMS1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)PMS1
snp3D : Map Gene to Disease5378
SNP (GeneSNP Utah)PMS1
SNP : HGBasePMS1
Genetic variants : HAPMAPPMS1
Exome VariantPMS1
1000_GenomesPMS1 
ICGC programENSG00000064933 
Cancer Gene: CensusPMS1 
Somatic Mutations in Cancer : COSMICPMS1 
CONAN: Copy Number AnalysisPMS1 
Mutations and Diseases : HGMDPMS1
Mutations and Diseases : intOGenPMS1
Genomic VariantsPMS1  PMS1 [DGVbeta]
dbVarPMS1
ClinVarPMS1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM120435    600258   
MedgenPMS1
GENETestsPMS1
Disease Genetic AssociationPMS1
Huge Navigator PMS1 [HugePedia]  PMS1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGenePMS1
Homology/Alignments : Family Browser (UCSC)PMS1
Phylogenetic Trees/Animal Genes : TreeFamPMS1
Chemical/Protein Interactions : CTD5378
Chemical/Pharm GKB GenePA33447
Clinical trialPMS1
Cancer Resource (Charite)ENSG00000064933
Other databases
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
CoreMinePMS1
iHOPPMS1
OncoSearchPMS1

Bibliography

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
 
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
 
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
 
Identification of hMutLbeta, a heterodimer of hMLH1 and hPMS1.
Rˆ§schle M, Marra G, Nystrˆm-Lahti M, Schˆ§r P, Jiricny J
The Journal of biological chemistry. 1999 ; 274 (45) : 32368-32375.
PMID 10542278
 
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, Peltomˆ§ki P, Lindblom A
Cancer research. 2001 ; 61 (21) : 7798-7802.
PMID 11691795
 
DNA mismatch repair defects: role in colorectal carcinogenesis.
Jacob S, Praz F
Biochimie. 2002 ; 84 (1) : 27-47.
PMID 11900875
 
Lynch syndrome genes.
Peltomˆ§ki P
Familial cancer. 2005 ; 4 (3) : 227-232.
PMID 16136382
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written12-2005Enric Domingo, Simo Schwartz Jr

Citation

This paper should be referenced as such :
Domingo, E ; Schwartz, S Jr. PMS1 (PMS1 postmeiotic segregation increased 1 (S
cerevisiae))
Atlas Genet Cytogenet Oncol Haematol. 2006;10(3):157-158.
Free online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/PMS1ID345ch2q31.html

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indexed on : Tue Aug 26 15:29:39 CEST 2014

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