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

POLI Gene

protein-coding   GIFtS: 60
GCID: GC18P051731

Polymerase (DNA Directed) Iota


(Previous symbols: RAD3OB, RAD30B)
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
Polymerase (DNA Directed) Iota1 2     eta22
RAD30B1 2 3 5     Polymerase (DNA-Directed), Iota2
RAD3OB1 2     EC 2.7.7.73
RAD30 Homolog B2 3     Eta23
DNA Polymerase Iota2     

External Ids:    HGNC: 91821   Entrez Gene: 112012   Ensembl: ENSG000001017517   OMIM: 6052525   UniProtKB: Q9UNA43   

Export aliases for POLI gene to outside databases

Previous GC identifers: GC18P051966 GC18P050047 GC18P050049 GC18P048651


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

GeneCards Summary for POLI Gene: 
POLI (polymerase (DNA directed) iota) is a protein-coding gene. Diseases associated with POLI include balanoposthitis, and tracheitis. GO annotations related to this gene include damaged DNA binding and DNA-directed DNA polymerase activity. An important paralog of this gene is REV1.

UniProtKB/Swiss-Prot: POLI_HUMAN, Q9UNA4
Function: Error-prone DNA polymerase specifically involved in DNA repair. Plays an important role in translesion
synthesis, where the normal high-fidelity DNA polymerases cannot proceed and DNA synthesis stalls. Favors
Hoogsteen base-pairing in the active site. Inserts the correct base with high-fidelity opposite an adenosine
template. Exhibits low fidelity and efficiency opposite a thymidine template, where it will preferentially insert
guanosine. May play a role in hypermutation of immunogobulin genes. Forms a Schiff base with 5'-deoxyribose
phosphate at abasic sites, but may not have lyase activity

Gene Wiki entry for POLI 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_000018.9  NT_010966.14  NC_018929.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the POLI gene promoter:
         TBP   RFX1   Brachyury   CUTL1   NF-AT   E47   NF-AT2   Hand1   Pax-4a   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPOLI promoter sequence
   Search SABiosciences Chromatin IP Primers for POLI

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat POLI


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

Entrez Gene cytogenetic band: 18q21.1   Ensembl cytogenetic band:  18q21.2   HGNC cytogenetic band: 18q21.1

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

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P051731:  view genomic region     (about GC identifiers)

Start:
51,795,774 bp from pter      End:
51,847,636 bp from pter
Size:
51,863 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: POLI_HUMAN, Q9UNA4 (See protein sequence)
Recommended Name: DNA polymerase iota  
Size: 740 amino acids; 83006 Da
Cofactor: Magnesium
Subunit: Interacts with REV1 (By similarity). Interacts with POLH
Subcellular location: Nucleus. Note=Accumulates at replication forks after DNA damage
Sequence caution: Sequence=AAD50381.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAF63383.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH32662.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAM11872.1; Type=Erroneous gene model
prediction; Sequence=CAB66605.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
6/37 PDB 3D structures from and Proteopedia for POLI (see all 37):
1T3N (3D)        1ZET (3D)        2ALZ (3D)        2DPI (3D)        2DPJ (3D)        2FLL (3D)    
Secondary accessions: Q8N590 Q9H0S1 Q9NYH6

Explore the universe of human proteins at neXtProt for POLI: NX_Q9UNA4

Explore proteomics data for POLI at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UNA4

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

    POLI Protein Expression
    REFSEQ proteins: NP_009126.2  
    ENSEMBL proteins: 
     ENSP00000462664   ENSP00000385196   ENSP00000464025   ENSP00000462681   ENSP00000463071  
     ENSP00000217800   ENSP00000461983   ENSP00000462146   ENSP00000463971   ENSP00000463065  

    Human Recombinant Protein Products for POLI: 
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    Novus Biologicals POLI Proteins
    Novus Biologicals POLI Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IDA--
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS10458907
    GO:0043231intracellular membrane-bounded organelle IDA--

    POLI for ontologies           About GeneDecksing



    POLI Antibody Products: 
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    Abcam antibodies for POLI
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    LSBio Antibodies in human, mouse, rat for POLI 

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    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    POL: DNA polymerases

    3 InterPro protein domains:
     IPR001126 DNA_repair_prot_UmuC-like
     IPR017963 DNA_repair_prot_UmuC-like_N
     IPR017961 DNA_pol_Y-fam_little_finger

    Graphical View of Domain Structure for InterPro Entry Q9UNA4

    ProtoNet protein and cluster: Q9UNA4

    1 Blocks protein domain: IPB001126 UMUC-like DNA-repair protein

    UniProtKB/Swiss-Prot: POLI_HUMAN, Q9UNA4
    Domain: The catalytic core consists of fingers, palm and thumb subdomains, but the fingers and thumb subdomains
    are much smaller than in high-fidelity polymerases; residues from five sequence motifs of the Y-family cluster
    around an active site cleft that can accommodate DNA and nucleotide substrates with relaxed geometric
    constraints, with consequently higher rates of misincorporation and low processivity
    Similarity: Belongs to the DNA polymerase type-Y family
    Similarity: Contains 1 umuC domain


    POLI 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: POLI_HUMAN, Q9UNA4
    Function: Error-prone DNA polymerase specifically involved in DNA repair. Plays an important role in translesion
    synthesis, where the normal high-fidelity DNA polymerases cannot proceed and DNA synthesis stalls. Favors
    Hoogsteen base-pairing in the active site. Inserts the correct base with high-fidelity opposite an adenosine
    template. Exhibits low fidelity and efficiency opposite a thymidine template, where it will preferentially insert
    guanosine. May play a role in hypermutation of immunogobulin genes. Forms a Schiff base with 5'-deoxyribose
    phosphate at abasic sites, but may not have lyase activity
    Catalytic activity: Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1)

         Enzyme Number (IUBMB): EC 2.7.7.71

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003684damaged DNA binding IEA--
    GO:0003887DNA-directed DNA polymerase activity IEA--
    GO:0005515protein binding IPI16189514
    GO:0046872metal ion binding IEA--
         
    POLI for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for POLI:
     Decreased Wnt reporter activit 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Poli):
     immune system  tumorigenesis 

    POLI for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for POLI 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for POLI

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for POLI 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for POLI 

    miRNA
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    8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate POLI (see all 16):
    hsa-miR-3163 hsa-miR-323-3p hsa-miR-562 hsa-miR-1298 hsa-miR-1237 hsa-miR-4255 hsa-miR-431 hsa-miR-1248
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: POLI (NM_007195)
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for POLI
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                         Customized lentivirus expression plasmids for stable overexpression of POLI 

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POLI


    (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 POLI About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Fanconi anemia pathway
    Fanconi anemia pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1         Kegg Pathway  (Kegg details for POLI):
        Fanconi anemia pathway


    POLI for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for POLI

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/24 Interacting proteins for POLI (Q9UNA41, 2, 3 ENSP000002178004) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RNF11Q9Y3C52, 3MINT-60872 I2D: score=3 
    ENSG00000206495Q9HCM93I2D: score=1 
    ENSG00000224994Q9HCM93I2D: score=1 
    ENSG00000226437Q9HCM93I2D: score=1 
    ENSG00000229929Q9HCM93I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006260DNA replication IEA--
    GO:0006281DNA repair IEA--

    POLI 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

    POLI for compounds           About GeneDecksing

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

    Browse Tocris compounds for POLI

    7 HMDB Compounds for POLI    About this table
    CompoundSynonyms CAS #PubMed Ids
    MagnesiumMagnesium (see all 2)7439-95-4--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--
    Thymidine 5'-triphosphate2'-Deoxythymidine 5'-triphosphate (see all 13)365-08-2--
    dATP2'-Deoxy-5'-ATP (see all 8)1927-31-7--
    dCTP2'-deoxycytidine-5'-triphosphate (see all 4)2056-98-6--
    dGTP2'-Deoxyguanosine 5'-triphosphate (see all 4)2564-35-4--

    7 Novoseek inferred chemical compound relationships for POLI gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dgtp 74.3 1 19179121 (1)
    guanine 60 1 15254543 (1)
    cytosine 58.2 1 15254543 (1)
    thymine 57.1 2 19440206 (1), 15254543 (1)
    adenine 51.5 4 19767609 (2), 17439242 (1), 15254543 (1)
    purine 50.5 1 16615915 (1)
    hydrogen 26.2 1 16914729 (1)

    Search CenterWatch for drugs/clinical trials and news about POLI

    (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 POLI gene: 
    NM_007195.2  

    Unigene Cluster for POLI:

    Polymerase (DNA directed) iota
    Hs.438533  [show with all ESTs]
    Unigene Representative Sequence: NM_007195
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000579534(uc002lfj.4 uc010xds.2 uc002lfk.4 uc010dpg.3)
    ENST00000406285 ENST00000577612 ENST00000579434 ENST00000583136 ENST00000577971(uc002lfl.1)
    ENST00000217800 ENST00000580880 ENST00000580905 ENST00000581950 ENST00000585023
    ENST00000579823 ENST00000577361 ENST00000583576 ENST00000582366 ENST00000577727

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate POLI (see all 16):
    hsa-miR-3163 hsa-miR-323-3p hsa-miR-562 hsa-miR-1298 hsa-miR-1237 hsa-miR-4255 hsa-miR-431 hsa-miR-1248
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    Clone
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    GenScript: all cDNA clones in your preferred vector: POLI (NM_007195)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POLI
    Sirion Biotech Customized lentivirus for stable overexpression of POLI 
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat POLI

    Additional mRNA sequence: 

    AF140501.1 AF245438.1 AK093688.1 AK226057.1 AK301578.1 AL136670.1 BC032617.1 BC032662.1 
    BX649100.1 

    10 DOTS entries:

    DT.113140  DT.100640677  DT.100699151  DT.97847906  DT.95366880  DT.121085817  DT.91696950  DT.100737360 
    DT.121085828  DT.91919089 

    24/107 AceView cDNA sequences (see all 107):

    AW468818 BX477912 AK093688 BM918353 BX649100 BM470558 BQ438265 BM450274 
    BM979833 CB243862 BU688625 BF111492 CR607269 C18844 AW516415 BG724156 
    AI973238 AW150751 AI624986 AF245438 AL136670 AI634894 BQ429462 BX378703 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for POLI (see all 12)    About this scheme

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

    ExUns: 14b · 14c
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for POLI

    (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

    POLI expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTCAAAAAAA
    POLI Expression
    About this image


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

    SOURCE GeneReport for Unigene cluster: Hs.438533

    UniProtKB/Swiss-Prot: POLI_HUMAN, Q9UNA4
    Tissue specificity: Ubiquitous. Highly expressed in testis

        SABiosciences Custom PCR Arrays for POLI
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat POLI
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POLI

    (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 POLI gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Poli1 , 5 polymerase (DNA directed), iota1, 5 79.69(n)1
    77.6(a)1
      18 (44.48 cM)5
    264471  NM_011972.21  NP_036102.21 
     705086805 
    lizard
    (Anolis carolinensis)
    Reptilia POLI6
    Uncharacterized protein
    60(a)
    1 ↔ 1
    GL343213.1(111309-125217)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.147382 Transcribed sequence with weak similarity to protein refNP_009126.1 (H.sapiens) polymerase (DNA directed) iota; RAD30 (S. cerevisiae) homolog B; polymerase (DNA-directed), iota [Homo sapiens] less 73.54(n)    142033869 
    zebrafish
    (Danio rerio)
    Actinopterygii poli1 polymerase (DNA directed) iota 54.25(n)
    50(a)
      550532  NM_001017834.1  NP_001017834.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta DNApol-&igr;3
    DNApol-iota1
    bypass DNA synthesis iota DNA
    polymerase3
    CG7602-PA1
    38(a)3
    44.01(n)1
    34.52(a)1
      84F53
    409651  NM_141515.21  NP_649772.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes REV16
    Deoxycytidyl transferase; involved in repair of ab...
    9(a)
    1 → many
    XV(981828-984785)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for POLI gene
    REV12  POLK2  POLH2  
    1 SIMAP similar gene for POLI using alignment to 9 protein entries:     POLI_HUMAN (see all proteins):
    POLH

    POLI 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

    10/769 SNPs in POLI are shown (see all 769)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1502854451,2
    C--51793940(+) AACAAC/TTATCT 1 -- us2k10--------
    rs768640021,2
    --51793967(+) TTTCAC/TAAAGA 1 -- us2k10--------
    rs360474271,2
    C,F--51793968(+) TTCACA/GAAGAT 1 -- us2k18Minor allele frequency- G:0.43NA WA EA 368
    rs1923718231,2
    --51794006(+) TTATAA/TCCTAG 1 -- us2k10--------
    rs558061451,2
    C,F--51794013(+) CTAGAT/GAGCAG 1 -- us2k11Minor allele frequency- G:0.01EA 120
    rs781335321,2
    C,F--51794210(+) AACCAT/CGCCGC 1 -- us2k13Minor allele frequency- C:0.12WA NA EA 358
    rs1434646781,2
    --51794235(+) GTAGCA/GGGCCC 1 -- us2k10--------
    rs1461192921,2
    --51794243(+) CCCGGA/GAGTGC 1 -- us2k10--------
    rs3727615471,2
    C--51794265(+) ATTCA-/CCCCAGCC 2 -- us2k1 cds10--------
    rs1389588191,2
    --51794281(+) CCACTA/GCTGGC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for POLI (51795774 - 51847636 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for POLI:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv433313CNV Loss18776910
    nsv828244CNV Loss20364138

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing POLI
    DNA2.0 Custom Variant and Variant Library Synthesis for POLI

    (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: 605252    OMIM disorders: --

    20/24 diseases for POLI (see all 24):    About MalaCards
    balanoposthitis    tracheitis    mouth disease    burkitt's lymphoma
    non-hodgkin lymphoma    xeroderma pigmentosum    hodgkin's lymphoma    esophageal adenocarcinoma
    graft versus host disease    meningioma    chronic lymphocytic leukemia    influenza
    pneumonia    hypoxia    tuberculosis    lung cancer
    cervicitis    adenoma    esophagitis    melanoma

    1 disease from the University of Copenhagen DISEASES database for POLI:
    Tracheitis

    POLI for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    3 Novoseek inferred disease relationships for POLI gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    xeroderma pigmentosum 69.1 1 17409408 (1)
    burkitt lymphoma 29.1 1 12410315 (1)
    tumors 0 2 17056006 (2)

    Genetic Association Database (GAD): POLI
    Human Genome Epidemiology (HuGE) Navigator: POLI (45 documents)

    Export disorders for POLI 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 POLI gene, integrated from 9 sources (see all 115):
    (articles sorted by number of sources associating them with POLI)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Increased catalytic activity and altered fidelity of human DNA polymerase iota in the presence of manganese. (PubMed id 17609217)1, 3, 9 Frank E.G. and Woodgate R. (2007)
    2. Replication by human DNA polymerase-iota occurs by Hoogsteen base- pairing. (PubMed id 15254543)1, 2, 9 Nair D.T.... Aggarwal A.K. (2004)
    3. Efficient and error-free replication past a minor-groove DNA adduct by the sequential action of human DNA polymerases iota and kappa. (PubMed id 15199127)1, 2, 9 Washington M.T.... Prakash L. (2004)
    4. Induction of somatic hypermutation in immunoglobulin genes is dependent on DNA polymerase iota. (PubMed id 12410315)1, 2, 9 Faili A....Weill J.-C. (2002)
    5. 5'-deoxyribose phosphate lyase activity of human DNA polymerase iota in vitro. (PubMed id 11251121)1, 2, 9 Bebenek K.... Kunkel T.A. (2001)
    6. Misinsertion and bypass of thymine-thymine dimers by human DNA polymerase iota. (PubMed id 11013228)1, 2, 9 Tissier A....Woodgate R. (2000)
    7. Novel human and mouse homologs of Saccharomyces cerevisiae DNA polymerase eta. (PubMed id 10458907)1, 2, 9 McDonald J.P.... Woodgate R. (1999)
    8. Localization of DNA polymerases eta and iota to the replication machinery is tightly co-ordinated in human cells. (PubMed id 12606586)1, 2, 9 Kannouche P.L.... Lehmann A.R. (2003)
    9. Altered nucleotide misinsertion fidelity associated with poliota- dependent replication at the end of a DNA template. (PubMed id 11387224)1, 2, 9 Frank E.G.... Woodgate R. (2001)
    10. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (2010)

    (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: 11201 HGNC: 9182 AceView: POLI Ensembl:ENSG00000101751 euGenes: HUgn11201
    ECgene: POLI Kegg: 11201 H-InvDB: POLI

    (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 POLI Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for POLI Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/poli/

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

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



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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