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PMS1 Gene

protein-coding   GIFtS: 60
GCID: GC02P190648

PMS1 Postmeiotic Segregation Increased 1 (S. Cerevisiae)

(Previous name: postmeiotic segregation increased (S. cerevisiae) 1)
(Previous symbol: PMSL1)
  See PMS1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
PMS1 Postmeiotic Segregation Increased 1 (S. Cerevisiae)1 2     Human Homolog Of Yeast MutL2
PMSL11 2 3 5     Mismatch Repair Gene PMSL12
DNA Mismatch Repair Protein PMS12 3     PMS1 Protein Homolog 12
HNPCC32 5     Rhabdomyosarcoma Antigen MU-RMS-40.10B2
Postmeiotic Segregation Increased (S. Cerevisiae) 11     Rhabdomyosarcoma Antigen MU-RMS-40.10E2
hPMS12     

External Ids:    HGNC: 91211   Entrez Gene: 53782   Ensembl: ENSG000000649337   OMIM: 6002585   UniProtKB: P542773   

Export aliases for PMS1 gene to outside databases

Previous GC identifers: GC02P188823 GC02P189331 GC02P190612 GC02P190851 GC02P190474 GC02P190357 GC02P182508


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PMS1 Gene:
This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be
involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a known DNA mismatch repair
protein. Mutations in this gene cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3) either alone or
in combination with mutations in other genes involved in the HNPCC phenotype, which is also known as Lynch
syndrome. (provided by RefSeq, Jul 2008)

GeneCards Summary for PMS1 Gene:
PMS1 (PMS1 postmeiotic segregation increased 1 (S. cerevisiae)) is a protein-coding gene. Diseases associated with PMS1 include lynch syndrome, and pms1-related lynch syndrome. GO annotations related to this gene include mismatched DNA binding and ATPase activity. An important paralog of this gene is PMS2.

UniProtKB/Swiss-Prot: PMS1_HUMAN, P54277
Function: Probably involved in the repair of mismatches in DNA

Gene Wiki entry for PMS1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PMS1 gene promoter:
         STAT5B   STAT1   GATA-3   STAT6   STAT1beta   STAT1alpha   GATA-2   GATA-1   STAT2   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PMS1 promoter sequence
   Search Chromatin IP Primers for PMS1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PMS1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q31.1   Ensembl cytogenetic band:  2q32.2   HGNC cytogenetic band: 2q31-q33

PMS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PMS1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P190648:  view genomic region     (about GC identifiers)

Start:
190,648,811 bp from pter      End:
190,742,355 bp from pter
Size:
93,545 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PMS1_HUMAN, P54277 (See protein sequence)
Recommended Name: PMS1 protein homolog 1  
Size: 932 amino acids; 105830 Da
Subunit: The MutL-beta complex is a heterodimer of PMS1 and MLH1
1 PDB 3D structure from and Proteopedia for PMS1:
2CS1 (3D)    
Secondary accessions: D3DPI1 Q4VAL4 Q5FBZ3 Q5FBZ6 Q5FBZ8
Alternative splicing: 4 isoforms:  P54277-1   P54277-2   P54277-3   P54277-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PMS1: NX_P54277

Explore proteomics data for PMS1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PMS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_000525.1  NP_001121615.1  NP_001121616.1  NP_001276337.1  NP_001276338.1  

    ENSEMBL proteins: 
     ENSP00000406490   ENSP00000386623   ENSP00000413837   ENSP00000343888   ENSP00000387125  
     ENSP00000363959   ENSP00000406225   ENSP00000410082   ENSP00000401064   ENSP00000411151  
     ENSP00000391136   ENSP00000389938   ENSP00000387169   ENSP00000396232   ENSP00000404492  
     ENSP00000398378  

    PMS1 Human Recombinant Protein Products:

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    Novus Biologicals PMS1 Proteins
    Novus Biologicals PMS1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PMS1

     
    Search eBioscience for Proteins for PMS1 

    PMS1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for PMS1
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    LSBio Antibodies in human, mouse, rat for PMS1

    PMS1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PMS1
    Cloud-Clone Corp. CLIAs for PMS1
    Search eBioscience for ELISAs for PMS1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR002099 DNA_mismatch_repair_fam
     IPR020568 Ribosomal_S5_D2-typ_fold
     IPR009071 HMG_box_dom
     IPR014762 DNA_mismatch_repair_CS
     IPR003594 HATPase_ATP-bd

    Graphical View of Domain Structure for InterPro Entry P54277

    ProtoNet protein and cluster: P54277

    1 Blocks protein domain: IPB002099 DNA mismatch repair protein

    UniProtKB/Swiss-Prot: PMS1_HUMAN, P54277
    Similarity: Belongs to the DNA mismatch repair MutL/HexB family
    Similarity: Contains 1 HMG box DNA-binding domain


    Find genes that share domains with PMS1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PMS1_HUMAN, P54277
    Function: Probably involved in the repair of mismatches in DNA

         Genatlas biochemistry entry for PMS1:
    postmeiotic segregation increased (S cerevisiae) 1, yeast mutator gene homolog (bacterial mutL) heterodimerizing
    with MLH1,involved in mismatch repair

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding TAS8072530
    GO:0003697single-stranded DNA binding IBA--
    GO:0005524ATP binding IEA--
    GO:0016887ATPase activity IBA--
    GO:0030983mismatched DNA binding IEA--
         
    Find genes that share ontologies with PMS1           About GenesLikeMe


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Pms1):
     tumorigenesis 

    Find genes that share phenotypes with PMS1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Pms1tm1Lisk for PMS1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PMS1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PMS1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PMS1

    miRNA
    Products:
        
    miRTarBase miRNAs that target PMS1:
    hsa-mir-15a-5p (MIRT000892), hsa-mir-16-5p (MIRT000891)

    Block miRNA regulation of human, mouse, rat PMS1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate PMS1
    SwitchGear 3'UTR luciferase reporter plasmidPMS1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PMS1
    Predesigned siRNA for gene silencing in human, mouse, rat PMS1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 3): PMS1 (NM_000534)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PMS1
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PMS1_HUMAN, P54277: Nucleus (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    mitochondrion1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus TAS8072530
    GO:0032300mismatch repair complex IBA--
    GO:0032389MutLalpha complex IBA--

    Find genes that share ontologies with PMS1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PMS1 About    
    See pathways by source

    SuperPathContained pathways About
    1Telomere C-strand (Lagging Strand) Synthesis
    Mismatch Repair in Eukaryotes0.54

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for PMS1
        Mismatch Repair in Eukaryotes


        Pathway & Disease-focused RT2 Profiler PCR Arrays including PMS1: 
              DNA Damage Signaling Pathway in human mouse rat
              DNA Repair in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PMS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PMS1 (P542773 ENSP000004064904) via UniProtKB, MINT, STRING, and/or I2D (see all 85)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MLH1P406923, ENSP000002317904I2D: score=4 STRING: ENSP00000231790
    AKAP9Q999963, ENSP000003485734I2D: score=1 STRING: ENSP00000348573
    BRCA2P515873, ENSP000003694974I2D: score=1 STRING: ENSP00000369497
    BRIP1Q9BX633, ENSP000002590084I2D: score=1 STRING: ENSP00000259008
    CCNT1O605633, ENSP000002619004I2D: score=1 STRING: ENSP00000261900
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006200ATP catabolic process IBA--
    GO:0006298mismatch repair IBA--
    GO:0007131reciprocal meiotic recombination IBA--
    GO:0042493response to drug IEA--

    Find genes that share ontologies with PMS1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PMS1

    2 Novoseek inferred chemical compound relationships for PMS1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mhs-2 87.9 2 9616736 (1), 7576988 (1)
    5-aza-2'deoxycytidine 39.1 4 15682421 (1), 11479923 (1)



    Find genes that share compounds with PMS1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PMS1 gene (5 alternative transcripts): 
    NM_000534.4  NM_001128143.1  NM_001128144.1  NM_001289408.1  NM_001289409.1  

    Unigene Cluster for PMS1:

    PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
    Hs.111749  [show with all ESTs]
    Unigene Representative Sequence: NM_000534
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000441310(uc010zga.1 uc010zgb.1 uc002urh.4 uc002urk.4 uc002uri.4 uc010zgc.2 uc010zgd.2 uc002urm.3)
    ENST00000409985(uc010zfz.1) ENST00000446877 ENST00000342075 ENST00000409823(uc010fry.1)
    ENST00000374826 ENST00000450931(uc002urj.3) ENST00000421722 ENST00000424766
    ENST00000447232(uc010frz.3 uc002url.3) ENST00000447734 ENST00000420421
    ENST00000424307(uc002urn.1) ENST00000424059 ENST00000409593 ENST00000483293
    ENST00000452382 ENST00000418224
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat PMS1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate PMS1
    SwitchGear 3'UTR luciferase reporter plasmidPMS1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for PMS1
    Predesigned siRNA for gene silencing in human, mouse, rat PMS1
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): PMS1 (NM_000534)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PMS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PMS1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for PMS1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PMS1
      QuantiTect SYBR Green Assays in human, mouse, rat PMS1
      QuantiFast Probe-based Assays in human, mouse, rat PMS1

    Additional mRNA sequence: 

    AB102869.1 AB102870.1 AB102871.1 AB102872.1 AB102873.1 AB102874.1 AB102875.1 AB102876.1 
    AB102877.1 AK295602.1 AK297440.1 AK304634.1 AK308311.1 AK316215.1 BC008410.1 BC036376.1 
    BC066989.1 BC084548.1 BC096330.1 BC096332.1 BT006947.1 EF491797.1 

    22 DOTS entries:

    DT.100845863  DT.95268270  DT.120935947  DT.92429421  DT.99950261  DT.120936030  DT.95268272  DT.120936018 
    DT.97846820  DT.120936035  DT.40254979  DT.95214703  DT.100029520  DT.101968479  DT.120935969  DT.120936008 
    DT.120935923  DT.120935933  DT.95282745  DT.120935998  DT.40211974  DT.40248115 

    Selected AceView cDNA sequences (see all 179):

    CB157373 BI438347 BQ881144 AL043785 AI563888 BE467223 AL705101 BE217937 
    AL043808 BQ771615 AI693213 BM723144 BF056020 AW207251 BM800196 BE466354 
    BE326943 AA419336 CB161021 BM677668 BX117693 CR610658 BG827501 CB131671 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PMS1 (see all 19)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a ·
    SP1:                    -     -                                               -     -                 -     -     -                                   -     -   
    SP2:                          -     -                                         -     -                 -                                               -     -   
    SP3:                          -     -                                         -     -                 -                                               -     -   
    SP4:                                                                          -     -                 -     -     -                                   -     -   
    SP5:                                                                          -     -                 -     -     -                                   -     -   

    ExUns: 16b ^ 17a · 17b · 17c ^ 18a · 18b ^ 19a · 19b · 19c · 19d ^ 20a · 20b · 20c · 20d
    SP1:  -           -     -     -                                                         
    SP2:  -                       -                                                         
    SP3:  -     -     -     -     -                                                         
    SP4:  -                       -                                                         
    SP5:  -           -     -     -     -                                                   


    ECgene alternative splicing isoforms for PMS1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PMS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTATTTTTT
    PMS1 Expression
    About this image


    PMS1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Testis (Reproductive System)
             XY Germ Cells Testis Cord
     
     Gonad
             XY Germ Cells Testis Cord
    PMS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PMS1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.111749
        Pathway & Disease-focused RT2 Profiler PCR Arrays including PMS1: 
              DNA Damage Signaling Pathway in human mouse rat
              DNA Repair in human mouse rat

    Primer
    Products:
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PMS1
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    QuantiFast Probe-based Assays in human, mouse, rat PMS1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PMS1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PMS1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pms11 , 5 postmeiotic segregation increased 1 (S. cerevisiae)1, 5 82.22(n)1
    76.01(a)1
      1 (26.99 cM)5
    2270991  NM_153556.11  NP_705784.11 
     531891875 
    chicken
    (Gallus gallus)
    Aves PMS11 PMS1 postmeiotic segregation increased 1 (S. cerevisiae) 69.02(n)
    59.8(a)
      423980  NM_001006508.1  NP_001006508.1 
    lizard
    (Anolis carolinensis)
    Reptilia PMS16
    PMS1 postmeiotic segregation increased 1 (S. cerev...
    52(a)
    1 ↔ 1
    2(134909793-134953263)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC527792 similar to PMS1 postmeiotic segregation increased 1 more 72.67(n)    BC044098.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pms12 PMS1 postmeiotic segregation increased 1 (S. cerevisiae) 74.08(n)   368631  BC055651.1 
    worm
    (Caenorhabditis elegans)
    Secernentea pms-26
    Protein PMS-2, isoform a (pms-2) mRNA, complete cd...
    22(a)
    1 ↔ 1
    V(11566801-11573091) WBGene00004064
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PMS16
    ATP-binding protein required for mismatch repair i...
    20(a)
    1 → many
    XIV(473391-476012) YNL082W


    ENSEMBL Gene Tree for PMS1 (if available)
    TreeFam Gene Tree for PMS1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PMS1 gene
    PMS22  
    12 SIMAP similar genes for PMS1 using alignment to 19 protein entries:     PMS1_HUMAN (see all proteins):
    DKFZp781M0253    FAM175A    PMS2P3    DKFZp686J1569    PMS8    PMS2L5
    PMS2P1    PMS5    MLH1    LOC389527    MLH3    HMGB1

    Find genes that share paralogs with PMS1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PMS1 (see all 1911)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1214346281,2
    Cuntested1190095292(+) AATCTC/TAGGTA 5 Q * stg1 int10--------
    rs57429411,2
    C,F--182510115(+) GGCTTTCTT/-  
            
    GAAGA
    3 -- int12Minor allele frequency- -:0.01NS NA 166
    rs2007043971,2
    --182511990(+) TTTTT-/ATTTTT 3 -- int10--------
    rs2021703531,2
    C--182533829(+) CATTTC/TTTTTT 3 -- int10--------
    rs1465993451,2
    C--190033341(+) GTAGAA/GATGAG 3 -- us2k10--------
    rs101683871,2
    C,F,H--190033594(+) TAAACC/TTAAAA 3 -- us2k124Minor allele frequency- T:0.02NS EA NA WA CSA 2003
    rs1450868491,2
    F--190033726(+) TCCCAA/GTGCAT 3 -- us2k11Minor allele frequency- G:0.00NA 4550
    rs2009115311,2
    --190033807(+) GTTCAC/TGTTTG 3 -- us2k10--------
    rs1116769051,2
    C--190033818(+) CTCTGC/TAGGAA 3 -- us2k10--------
    rs1888776151,2
    --190033819(+) TCTGTA/GGGAAG 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for PMS1 (190648811 - 190742355 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for PMS1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv213327CNV Loss16902084
    nsv875616CNV Loss21882294
    nsv875617CNV Loss21882294
    nsv3080CNV Loss18451855

    Human Gene Mutation Database (HGMD): PMS1
    Locus Specific Mutation Databases (LSDB): PMS1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PMS1
    DNA2.0 Custom Variant and Variant Library Synthesis for PMS1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600258    OMIM disorders: --

    8 diseases for PMS1:    
    About MalaCards
    lynch syndrome    pms1-related lynch syndrome    peutz-jeghers syndrome    colorectal cancer, hereditary nonpolyposis, type 1
    turcot syndrome    rhabdomyosarcoma    colorectal cancer    colon cancer

    2 diseases from the University of Copenhagen DISEASES database for PMS1:
    Lynch syndrome     Colorectal cancer

    Find genes that share disorders with PMS1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for PMS1 gene (see all 31)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    microsatellite instability 86.8 8 8766523 (1), 10748105 (1), 9082661 (1), 9650548 (1) (see all 8)
    hereditary nonpolyposis colon cancer 82.6 3 8895729 (1), 9491849 (1), 10712226 (1)
    colorectal cancer 80.6 58 10480359 (3), 11691795 (3), 9500994 (2), 9419392 (2) (see all 46)
    lynch syndrome 80.2 2 7491839 (1), 16136382 (1)
    germ-line mutation 76.8 5 10660333 (1), 9709044 (1), 7726159 (1), 9311737 (1) (see all 5)
    turcot syndrome 63.6 1 11691795 (1)
    colon cancer 56.1 3 9110401 (1), 8880570 (1), 9491849 (1)
    somatic mutations 55.6 1 9500994 (1)
    colorectal tumors 55.5 2 7491839 (1), 10480359 (1)
    colorectal carcinoma 54.2 3 7812952 (1), 9855004 (1), 7585634 (1)

    Genetic Association Database (GAD): PMS1
    Human Genome Epidemiology (HuGE) Navigator: PMS1 (19 documents)

    Export disorders for PMS1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PMS1 gene, integrated from 10 sources (see all 167):
    (articles sorted by number of sources associating them with PMS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. (PubMed id 8072530)1, 2, 3 Nicolaides N.C.... Kinzler K.W. (Nature 1994)
    2. Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer. (PubMed id 10480359)1, 2, 9 Wang Q....Puisieux A. (Hum. Genet. 1999)
    3. Common variants in mismatch repair genes and risk of colorectal cancer. (PubMed id 18364438)1, 4, 9 Koessler T....Pharoah P.D. (Gut 2008)
    4. Mismatch repair gene polymorphisms and survival in invasive ovarian cancer patients. (PubMed id 18723338)1, 4, 9 Mann A....Song H. (Eur. J. Cancer 2008)
    5. Common variants in mismatch repair genes and risk of invasive ovarian cancer. (PubMed id 16774946)1, 4, 9 Song H....Gayther S.A. (Carcinogenesis 2006)
    6. Common germline variation in mismatch repair genes and survival after a diagnosis of colorectal cancer. (PubMed id 19115210)1, 4, 9 Koessler T....Pharoah P.D. (Int. J. Cancer 2009)
    7. Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk. (PubMed id 20496165)1, 4 Monsees G.M....Han J. (Breast Cancer Res. Treat. 2011)
    8. Recapitulation of two genomewide association studies on blood pressure and essential hypertension in the Korean population. (PubMed id 20414254)1, 4 Hong K.W....Oh B. (J. Hum. Genet. 2010)
    9. Genetic susceptibility to distinct bladder cancer subphenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (Eur. Urol. 2010)
    10. PTEN identified as important risk factor of chronic obstructive pulmonary disease. (PubMed id 19625176)1, 4 Hosgood H.D....Lan Q. (Respir Med 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5378 HGNC: 9121 AceView: PMS1 Ensembl:ENSG00000064933 euGenes: HUgn5378
    ECgene: PMS1 H-InvDB: PMS1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for PMS1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PMS1 Genetics and Cytogenetics in Oncology and Haematology
    Hereditary non-polyposis colorectal cancer dbhttp://www.nfdht.nl/
    NIEHS-SNPshttp://egp.gs.washington.edu/data/pms1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PMS1 gene:
    Search GeneIP for patents involving PMS1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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