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

POLN Gene

protein-coding   GIFtS: 47
GCID: GC04M002040

polymerase (DNA directed) nu

 Explore 5 diseases affiliated with
POLN via our new
 Human Malady Compendium 
Biological research products
for POLN
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Polymerase (DNA Directed) Nu1 2
POL4P2
DNA Polymerase N2
DNA Polymerase Nu2
DNA Polymerase POL4P2
EC 2.7.7.73

External Ids:    HGNC: 188701   Entrez Gene: 3534972   Ensembl: ENSG000001309977   OMIM: 6108875   UniProtKB: Q7Z5Q53   

Export aliases for POLN gene to outside databases

Previous GC identifers: GC04U900224 GC04M002035


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

  --

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_006051.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the POLN gene promoter:
         Bach1   FOXO3   Nkx5-1   FOXO3b   AREB6   POU2F1   POU2F1a   FOXO3a   TGIF   Ik-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for POLN

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


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

Entrez Gene cytogenetic band: 4p16.3   Ensembl cytogenetic band:  4p16.3   HGNC cytogenetic band: 4p16.3

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

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M002040:  view genomic region     (about GC identifiers)

Start:
2,073,645 bp from pter      End:
2,243,848 bp from pter
Size:
170,204 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DPOLN_HUMAN, Q7Z5Q5 (See protein sequence)
Recommended Name: DNA polymerase nu  
Size: 900 amino acids; 100307 Da
Subcellular location: Nucleus
Sequence caution: Sequence=BAD18421.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact;
Secondary accessions: A2A336 Q4TTW4 Q6ZNF4

Explore the universe of human proteins at neXtProt for POLN: NX_Q7Z5Q5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q7Z5Q5

  • POLN Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_861524.2  
    ENSEMBL proteins: 
     ENSP00000435506   ENSP00000426401   ENSP00000372316  

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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--


    POLN for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    POLN for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR001098 DNA-dir_DNA_pol_A_palm_dom
     IPR002298 DNA_polymerase_A

    Graphical View of Domain Structure for InterPro Entry Q7Z5Q5

    ProtoNet protein and cluster: Q7Z5Q5

    1 Blocks protein family: IPB001098 DNA-directed DNA polymerase

    UniProtKB/Swiss-Prot: DPOLN_HUMAN, Q7Z5Q5
    Similarity: Belongs to the DNA polymerase type-A family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: DPOLN_HUMAN, Q7Z5Q5
    Catalytic activity: Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1)

    Enzyme Number (IUBMB): EC 2.7.7.71

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003887DNA-directed DNA polymerase activity IEA--


    POLN for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for POLN:
     Decreased viability of wild-ty 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for POLN

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/11 Interacting proteins for POLN (Q7Z5Q53 ENSP000003723164) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FANCAO153603, ENSP000003739524I2D: score=1 STRING: ENSP00000373952
    FANCGO152873, ENSP000003679104I2D: score=1 STRING: ENSP00000367910
    PCNAP120043, ENSP000003684384I2D: score=1 STRING: ENSP00000368438
    RAD51Q066093, ENSP000002678684I2D: score=1 STRING: ENSP00000267868
    FANCD2Q9BXW93, ENSP000002876474I2D: score=1 STRING: ENSP00000287647
    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--


    POLN for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for POLN
    Search CenterWatch for drugs/clinical trials and news about POLN / DPOLN 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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    About This Section

    REFSEQ mRNAs for POLN gene: 
    NM_181808.2  

    Unigene Cluster for POLN:

    Polymerase (DNA directed) nu
    Hs.368454  [show with all ESTs]
    Unigene Representative Sequence: AK131239
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000511885(uc003ger.2) ENST00000503371 ENST00000511098 ENST00000514521
    ENST00000511777 ENST00000509623 ENST00000514858(uc010ich.1) ENST00000508568
    ENST00000503601 ENST00000515357(uc011bvi.1) ENST00000510344 ENST00000506518
    ENST00000382865(uc010icg.1)

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat POLN
    6 QIAGEN miScript miRNA Assays for microRNAs that regulate POLN:
    hsa-miR-4261 hsa-miR-661 hsa-miR-508-5p hsa-miR-3116 hsa-miR-744* hsa-miR-4277
    SwitchGear 3'UTR luciferase reporter plasmidPOLN 3' UTR sequence
    Inhib. RNA
    Products:
         
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    OriGene siRNA: POLN
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    Clone
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    Primer
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    Additional cDNA sequence: 

    AF044578.1 AK131239.1 AK303673.1 AL122048.1 AY136549.1 

    8 DOTS entries:

    DT.100675141  DT.91714320  DT.91707338  DT.92414447  DT.121236923  DT.437045  DT.65284201  DT.121236963 

    24/71 AceView cDNA sequences (see all 71):

    BM843545 AV646359 BC003648 AA442824 BC025356 AF040964 CA421871 AI674093 
    BQ024208 AL709166 AK056134 AA630380 NM_024511 AW169985 BX114515 AI627212 
    BX400052 CR749640 AI628516 BG678161 AY136549 AW513701 CA865481 NM_181808 

    GeneLoc Exon Structure


    (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

    POLN expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCGCACTGAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See POLN Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for POLN

    SOURCE GeneReport for Unigene cluster: Hs.368454

    UniProtKB/Swiss-Prot: DPOLN_HUMAN, Q7Z5Q5
    Tissue specificity: Highly expressed in testis and heart. Weakly expressed in skeletal muscle

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    In Situ
    Assay Products:
     

     
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    (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 last universal common ancestor (LUCA).

    Orthologs for POLN gene from 6/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Poln5 DNA polymerase N   --   5 (17.83 cM) 34007198 
    chicken
    (Gallus gallus)
    Aves F1NCR5_CHICK6
    Uncharacterized protein
    56(a)
    1 ↔ 1
    4(85915193-85990792)
    zebrafish
    (Danio rerio)
    Actinopterygii poln1 polymerase (DNA directed) nu 55.21(n)
    47.08(a)
      566857  NM_001100026.1  NP_001093496.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G520506
    AT1G343806
    (see all 4)
    5'-3' exonuclease-like protein
    (see all 4)
    5(a)
    4(a)
    (see all 4)
    possible ortholog
    possible ortholog
    (see all 4)
    3(19304991-19309580)
    1(12552655-12554358)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 5)
    DNA polymerase I, putative, expressed
    (see all 5)
    5(a)
    5(a)
    (see all 5)
    possible ortholog
    possible ortholog
    (see all 5)
    3(6697273-6705866)
    1(37954045-37957958)
    E. coli
    (Escherichia coli)
    Gamma proteobacteria ygdG6
    polA6
    Ssb-binding protein, misidentified as ExoIX
    fused DNA polymerase I 5'->3' polymerase/3'->5' ex...
    7(a)
    20(a)
    1 ↔ 1
    possible ortholog
    Chromosome(2929077-2929832)
    Chromosome(4044989-4047775)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for POLN
         4 CNVs: 80144 98607 6235 91878
    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing POLN
    DNA2.0 Custom Variant and Variant Library Synthesis for POLN

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    POLN for disorders           About GeneDecksing

    OMIM gene information: 610887    OMIM disorders: --

    5 diseases for POLN:    About MalaCards
    fanconi's anemia    anemia    pneumonia    tuberculosis
    mycobacterium tuberculosis

    Human Genome Epidemiology (HuGE) Navigator: POLN (2 documents)

    Export disorders for POLN 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 POLN gene, integrated from 9 sources (see all 25):
    (articles sorted by number of sources associating them with POLN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. POLN, a nuclear PolA family DNA polymerase homologous to the DNA cross-link sensitivity protein Mus308. (PubMed id 12794064)1, 2, 3, 9 Marini F.... Wood R.D. (2003)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Evidence for the involvement of human DNA polymerase N in the repair of DNA interstrand cross-links. (PubMed id 19908865)1, 9 Zietlow L....Bessho T. (2009)
    4. c-Jun N-terminal kinase-mediated Rad18 phosphorylation facilitates Poly recruitment to stalled replication forks. (PubMed id 22456510)1 Barkley L.R....Vaziri C. (2012)
    5. Enhancement of human DNA polymerase y activity and fid elity is dependent upon a bipartite interaction with the Werner syndrome protein . (PubMed id 23045531)1 Maddukuri L....Eoff R.L. (2012)
    6. Epstein-Barr virus BPLF1 deubiquitinates PCNA and atte nuates polymerase y recruitment to DNA damage sites. (PubMed id 22623772)1 Whitehurst C.B....Pagano J.S. (2012)
    7. Genetic variants in DNA repair genes and the risk of c utaneous malignant melanoma in melanoma-prone families with/without CDKN2A mutat ions. (PubMed id 21671477)1 Liang X.S....Yang X.R. (2012)
    8. Preparation of site-specific T=mCG cis-syn cyclobutane dimer-containing template and its error-free bypass by yeast and human polymera se y. (PubMed id 22262850)1 Song Q....Taylor J.S. (2012)
    9. ATR-mediated phosphorylation of DNA polymerase I^ is n eeded for efficient recovery from UV damage. (PubMed id 21242293)1 GAPhler T....Lehmann A.R. (2011)
    10. A comprehensive genetic association study of Alzheimer disease in African Americans. (PubMed id 22159054)1 Logue M.W....Farrer L.A. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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: 353497 HGNC: 18870 AceView: C4orf15andPOLN Ensembl:ENSG00000130997 euGenes: HUgn353497
    ECgene: POLN H-InvDB: POLN

    (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 POLN Pharmacogenomics, SNPs, Pathways
    NIEHS-SNPshttp://egp.gs.washington.edu/data/poln/

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

    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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),
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    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
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    von Willebrand factor
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