Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PMS1 Gene

protein-coding   GIFtS: 59
GCID: GC02P190648

PMS1 Postmeiotic Segregation Increased 1 (S. Cerevisiae)

(Previous name: postmeiotic segregation increased (S. cerevisiae) 1)
(Previous symbol: PMSL1)
Microbiology & Infectious Diseases Congress
  See 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Mismatch repair. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_005403.17  NC_018913.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PMS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Nucleus (Potential)
1 PDB 3D structure from and Proteopedia for PMS1:
2CS1 (3D)    
Secondary accessions: D3DPI1 Q4VAL4 Q5FBZ3 Q5FBZ8
Alternative splicing: 3 isoforms:  P54277-1   P54277-2   P54277-3   (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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P54277

  • PMS1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PMS1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_000525.1  NP_001121615.1  NP_001121616.1  

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

    Human Recombinant Protein Products for PMS1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for PMS1
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for PMS1
    GenScript Custom Purified and Recombinant Proteins Services for PMS1
    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 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    PMS1 for ontologies           About GeneDecksing



    PMS1 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for PMS1
    OriGene Custom Antibody Services for PMS1
    GenScript Custom Superior Antibodies Services for PMS1
    Novus Biologicals PMS1 Antibodies
    Abcam antibodies for PMS1
    Cloud-Clone Corp. Antibodies for PMS1 
    Search ThermoFisher Antibodies for PMS1
    LSBio Antibodies in human, mouse, rat for PMS1 

    Assay Products for PMS1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for PMS1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PMS1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PMS1 
    Cloud-Clone Corp. CLIAs for PMS1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/8 InterPro protein domains (see all 8):
     IPR002099 DNA_mismatch_repair
     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


    PMS1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/6 molecular function terms (GO ID links to tree view) (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--
         
    PMS1 for ontologies           About GeneDecksing


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

    PMS1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pms1tm1Lisk for PMS1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PMS1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PMS1

       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:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PMS1
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate PMS1
    SwitchGear 3'UTR luciferase reporter plasmidPMS1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for PMS1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PMS1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PMS1
    Sirion Biotech Customized adenovirus for overexpression of PMS1

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for PMS1 (see all 17)
    OriGene ORF clones in mouse, rat for PMS1
    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)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PMS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PMS1
    Sirion Biotech Customized lentivirus for stable overexpression of PMS1 
                         Customized lentivirus expression plasmids for stable overexpression of PMS1 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for PMS1
    Search LifeMap BioReagents cell lines for PMS1
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PMS1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PMS1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Lagging Strand Synthesis
    Mismatch Repair in Eukaryotes0.54

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


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PMS1

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

    5/57 Interacting proteins for PMS1 (P542773 ENSP000004064904) via UniProtKB, MINT, STRING, and/or I2D (see all 57)
    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): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006200ATP catabolic process IBA--
    GO:0006298mismatch repair IBA--
    GO:0007131reciprocal meiotic recombination IBA--

    PMS1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PMS1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about PMS1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PMS1 gene (3 alternative transcripts): 
    NM_000534.4  NM_001128143.1  NM_001128144.1  

    Unigene Cluster for PMS1:

    PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
    Hs.111749  [show with all ESTs]
    Unigene Representative Sequence: NM_000534
    18/19 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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PMS1
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate PMS1
    SwitchGear 3'UTR luciferase reporter plasmidPMS1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for PMS1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PMS1
    Clone
    Products:
         
    OriGene clones in human, mouse for PMS1 (see all 17)
    OriGene ORF clones in mouse, rat for PMS1
    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
    Sirion Biotech Customized lentivirus for stable overexpression of PMS1 
                         Customized lentivirus expression plasmids for stable overexpression of PMS1 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for PMS1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PMS1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PMS1
      QIAGEN 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 

    24/179 AceView cDNA sequences (see all 179):

    AL705101 BF056020 BQ771615 AA419336 BE467223 CR610658 BX117693 AW207251 
    AA770316 AI381585 BU623174 AI568389 AA297925 BM697706 CA396728 BF061313 
    AA411161 AI076038 AI348556 BE217937 AA282075 BE466354 BQ881144 AI693213 

    GeneLoc Exon Structure

    5/19 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PMS1 expression in normal human tissues (normalized intensities)      PMS1 embryonic expression: see
    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 
     5/3 selected tissues (see all 3) fully expand
     
     Ovary (Reproductive System)
             oocyte   
     
     Testis (Reproductive System)
             XY Germ Cells Testis Cord
     
     Gonad
             XY Germ Cells Testis Cord

    See PMS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PMS1

    SOURCE GeneReport for Unigene cluster: Hs.111749
        SABiosciences Expression via Pathway-Focused PCR Arrays including PMS1: 
              DNA Damage Signaling Pathway in human mouse rat
              DNA Repair in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for PMS1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PMS1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PMS1
    QIAGEN 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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PMS1 gene from 7/14 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) less1, 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) less 68.39(n)
    59.63(a)
      423980  NM_001006508.1  NP_001006508.1 
    lizard
    (Anolis carolinensis)
    Reptilia PMS16
    Uncharacterized protein
    53(a)
    1 ↔ 1
    2(134909793-134953263)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC527792 similar to PMS1 postmeiotic segregation increased 1 (S. cerevisiae) less 72.67(n)    BC044098.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pms12 PMS1 postmeiotic segregation increased 1 (S. cerevisiae) less 74.08(n)   368631  BC055651.1 
    worm
    (Caenorhabditis elegans)
    Secernentea pms-26
    Protein PMS-2, isoform a
    18(a)
    1 ↔ 1
    V(11566801-11573091)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PMS16
    ATP-binding protein required for mismatch repair i...
    17(a)
    1 → many
    XIV(473391-476012)


    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)
    About This Section
    Paralogs for PMS1 gene
    PMS22  
    12 SIMAP similar genes for PMS1 using alignment to 20 protein entries:     PMS1_HUMAN (see all proteins):
    DKFZp781M0253    FAM175A    PMS2P3    DKFZp686J1569    PMS8    PMS2L5
    PMS2P1    PMS5    MLH1    LOC389527    MLH3    HMGB1

    PMS1 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1911 SNPs in PMS1 are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600258    OMIM disorders: --

    20/41 diseases for PMS1 (see all 41):    About MalaCards
    lynch syndrome    pms1-related lynch syndrome    turcot syndrome    peutz-jeghers syndrome
    rhabdomyosarcoma    muir-torre syndrome    colorectal cancer    familial colorectal cancer
    colon cancer    familial adenomatous polyposis    ovarian cancer    polymyositis
    sporadic breast cancer    squamous cell carcinoma of the head and neck    dermatomyositis    adult t-cell leukemia
    fanconi's anemia    malignant glioma    essential hypertension    endometrial carcinoma

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

    PMS1 for disorders           About GeneDecksing

    10/31 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)
    About This Section

    PubMed articles for PMS1 gene, integrated from 9 sources (see all 165):
    (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. (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. (1999)
    3. Common variants in mismatch repair genes and risk of colorectal cancer. (PubMed id 18364438)1, 4, 9 Koessler T....Pharoah P.D. (2008)
    4. Mismatch repair gene polymorphisms and survival in invasive ovarian cancer patients. (PubMed id 18723338)1, 4, 9 Mann A....Song H. (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. (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. (2009)
    7. 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. (2010)
    8. Genetic susceptibility to distinct bladder cancer sub phenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (2010)
    9. Comprehensive screen of genetic variation in DNA repa ir pathway genes and postmenopausal breast cancer risk. (PubMed id 20496165)1, 4 Monsees G.M....Han J. (2010)
    10. PTEN identified as important risk factor of chronic o bstructive pulmonary disease. (PubMed id 19625176)1, 4 Hosgood H.D....Lan Q. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 5378 HGNC: 9121 AceView: PMS1 Ensembl:ENSG00000064933 euGenes: HUgn5378
    ECgene: PMS1 H-InvDB: PMS1

    (According to HUGE)
    About This Section
      --

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for PMS1   OriGene RNAi products in human, mouse, rat for PMS1  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for PMS1  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for PMS1  
     OriGene qSTAR qPCR primer pairs in human, mouse for PMS1   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for PMS1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for PMS1   OriGene Custom Protein Services for PMS1  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat PMS1
     QIAGEN SeqTarget long-range PCR primers for resequencing PMS1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PMS1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PMS1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PMS1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PMS1
     GenScript Custom Purified and Recombinant Proteins Services for PMS1 GenScript cDNA clones with any tag delivered in your preferred vector for PMS1
     GenScript Custom Assay Services for PMS1 GenScript Custom Superior Antibodies Services for PMS1
     GenScript Custom overexpressing Cell Line Services for PMS1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in PMS1 promoter
     Search Chromatin IP Primers for PMS1
     RT2 qPCR Primer Assay in human, mouse, rat PMS1
     GNC Network for PMS1
     SABiosciences PCR Arrays including human, mouse, rat PMS1
     Search Tocris compounds for PMS1
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     PMS1 antibodies
     PMS1 proteins
     PMS1 lysates
     Antibodies for PMS1
     See all of Abcam's Antibodies, Kits and Proteins for PMS1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for PMS1
     Antibodies for PMS1
     ELISAs for PMS1
     CLIAs for PMS1
     Search LifeMap BioReagents cell lines for PMS1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PMS1
     SwitchGear 3'UTR luciferase reporter plasmids for PMS1
     SwitchGear Promoter luciferase reporter plasmids for PMS1
     Search ThermoFisher Antibodies for PMS1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PMS1
     inGenious Targeting Laboratory - Custom generated mouse model solutions for PMS1
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PMS1
    Customized:
     lentivirus for stable overexpression of PMS1
     lentivirus expression plasmids for stable overexpression of PMS1
     adenovirus for overexpression of PMS1
     LSBio Antibodies in human, mouse, rat for PMS1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      PMS1 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4