Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA
Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret
Donations are also welcome
If each casual visitor gives 3 Euros or Dollars, the Atlas is saved in a week !
If each professional gives 100 Euros or Dollars once a year (now), the Atlas is saved in 2 weeks !
Don't let the Atlas imminent demise
Note: we send fiscal receipts for donations equal or above 50 Euros or Dollars

Donate (in Euros)

Donate (in US Dollars)

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


Other namesHNPCC3
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]


  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


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.


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

HGNC (Hugo)PMS1   9121
Entrez_Gene (NCBI)PMS1  5378  PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
GeneCards (Weizmann)PMS1
Ensembl hg19 (Hinxton)ENSG00000064933 [Gene_View]  chr2:190648811-190742355 [Contig_View]  PMS1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000064933 [Gene_View]  chr2:190648811-190742355 [Contig_View]  PMS1 [Vega]
ICGC DataPortalENSG00000064933
AceView (NCBI)PMS1
Genatlas (Paris)PMS1
SOURCE (Princeton)PMS1
Genomic and cartography
GoldenPath hg19 (UCSC)PMS1  -     chr2:190648811-190742355 +  2q31.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PMS1  -     2q31.1   [Description]    (hg38-Dec_2013)
EnsemblPMS1 - 2q31.1 [CytoView hg19]  PMS1 - 2q31.1 [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
RefSeq genomic (Entrez)NC_000002 NC_018913 NG_008648 NT_005403 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 ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
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    DNA_mismatch_repair_CS    DNA_mismatch_repair_fam    HATPase_C    HMG_box_dom    Ribosomal_S5_D2-typ_fold    Ribosomal_S5_D2-typ_fold_subgr   
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   
Human Protein AtlasENSG00000064933
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  single-stranded DNA binding  ATP binding  nucleus  mismatch repair  ATPase activity  mismatched DNA binding  MutLalpha complex  response to drug  
Ontology : EGO-EBIDNA binding  single-stranded DNA binding  ATP binding  nucleus  mismatch repair  ATPase activity  mismatched DNA binding  MutLalpha complex  response to drug  
Protein Interaction DatabasePMS1
DoCM (Curated mutations)PMS1
Wikipedia pathwaysPMS1
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerPMS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PMS1
Exome Variant ServerPMS1
SNP (GeneSNP Utah)PMS1
Genetic variants : HAPMAPPMS1
Genomic Variants (DGV)PMS1 [DGVbeta]
ICGC Data PortalENSG00000064933 
Cancer Gene: CensusPMS1 
Somatic Mutations in Cancer : COSMICPMS1 
CONAN: Copy Number AnalysisPMS1 
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)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
DECIPHER (Syndromes)2:190648811-190742355
Mutations and Diseases : HGMDPMS1
OMIM120435    600258   
NextProtP54277 [Medical]
Disease Genetic AssociationPMS1
Huge Navigator PMS1 [HugePedia]  PMS1 [HugeCancerGEM]
snp3D : Map Gene to Disease5378
DGIdb (Drug Gene Interaction db)PMS1
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
PubMed46 Pubmed reference(s) in Entrez


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

Search in all EBI   NCBI


Written12-2005Enric Domingo, Simo Schwartz Jr


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 ]

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Mar 28 12:54:56 CET 2015

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us