Human Gene POLN (ENST00000511885.6_8) from GENCODE V47lift37
  Description: DNA polymerase nu (from RefSeq NM_181808.4)
Gencode Transcript: ENST00000511885.6_8
Gencode Gene: ENSG00000130997.16_15
Transcript (Including UTRs)
   Position: hg19 chr4:2,073,645-2,243,848 Size: 170,204 Total Exon Count: 26 Strand: -
Coding Region
   Position: hg19 chr4:2,073,841-2,230,958 Size: 157,118 Coding Exon Count: 24 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:2,073,645-2,243,848)mRNA (may differ from genome)Protein (900 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DPOLN_HUMAN
DESCRIPTION: RecName: Full=DNA polymerase nu; EC=2.7.7.7;
CATALYTIC ACTIVITY: Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Highly expressed in testis and heart. Weakly expressed in skeletal muscle.
SIMILARITY: Belongs to the DNA polymerase type-A family.
SEQUENCE CAUTION: Sequence=BAD18421.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact;
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/poln/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: POLN
Diseases sorted by gene-association score: xeroderma pigmentosum, variant type (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 3.35 RPKM in Testis
Total median expression: 32.59 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -177.10354-0.500 Picture PostScript Text
3' UTR -72.90196-0.372 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001098 - DNA-dir_DNA_pol_A_palm_dom
IPR002298 - DNA_polymerase_A

Pfam Domains:
PF00476 - DNA polymerase family A
PF18049 - DNA polymerase nu pseudo-exo

SCOP Domains:
53098 - Ribonuclease H-like
56672 - DNA/RNA polymerases

ModBase Predicted Comparative 3D Structure on Q7Z5Q5
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003887 DNA-directed DNA polymerase activity
GO:0005515 protein binding
GO:0016740 transferase activity
GO:0016779 nucleotidyltransferase activity
GO:0030332 cyclin binding
GO:0008409 5'-3' exonuclease activity

Biological Process:
GO:0000724 double-strand break repair via homologous recombination
GO:0006260 DNA replication
GO:0006261 DNA-dependent DNA replication
GO:0006281 DNA repair
GO:0006974 cellular response to DNA damage stimulus
GO:0019985 translesion synthesis
GO:0036297 interstrand cross-link repair

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005730 nucleolus


-  Descriptions from all associated GenBank mRNAs
  AY136549 - Homo sapiens DNA polymerase N mRNA, complete cds.
AF044578 - Homo sapiens putative DNA polymerase mRNA, partial cds.
BC156716 - Synthetic construct Homo sapiens clone IMAGE:100062221, MGC:190208 polymerase (DNA directed) nu (POLN) mRNA, encodes complete protein.
BC156871 - Synthetic construct Homo sapiens clone IMAGE:100062690, MGC:190586 polymerase (DNA directed) nu (POLN) mRNA, encodes complete protein.
BC146297 - Synthetic construct Homo sapiens clone IMAGE:100015195, MGC:180243 polymerase (DNA directed) nu (POLN) mRNA, encodes complete protein.
AB527447 - Synthetic construct DNA, clone: pF1KB7329, Homo sapiens POLN gene for polymerase (DNA directed) nu, without stop codon, in Flexi system.
AK131239 - Homo sapiens cDNA FLJ16155 fis, clone BRAWH1000369, highly similar to Homo sapiens putative DNA polymerase mRNA.
AK303673 - Homo sapiens cDNA FLJ61029 complete cds, highly similar to DNA polymerase nu (EC 2.7.7.7).
AL122048 - Homo sapiens mRNA; cDNA DKFZp434H1517 (from clone DKFZp434H1517).
AK293948 - Homo sapiens cDNA FLJ52073 complete cds.
CR749640 - Homo sapiens mRNA; cDNA DKFZp686I1868 (from clone DKFZp686I1868).
BC003648 - Homo sapiens chromosome 4 open reading frame 15, mRNA (cDNA clone MGC:4701 IMAGE:3534250), complete cds.
AK056134 - Homo sapiens cDNA FLJ31572 fis, clone NT2RI2001731, weakly similar to INTRACELLULAR PROTEIN TRANSPORT PROTEIN USO1.
JD325784 - Sequence 306808 from Patent EP1572962.
JD431662 - Sequence 412686 from Patent EP1572962.
JD393458 - Sequence 374482 from Patent EP1572962.
JD439800 - Sequence 420824 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q7Z5Q5 (Reactome details) participates in the following event(s):

R-HSA-6786155 POLN binds ICL-DNA
R-HSA-6783310 Fanconi Anemia Pathway
R-HSA-73894 DNA Repair

-  Other Names for This Gene
  Alternate Gene Symbols: A2A336, B4E158, DPOLN_HUMAN, ENST00000511885.1, ENST00000511885.2, ENST00000511885.3, ENST00000511885.4, ENST00000511885.5, NM_181808, Q4TTW4, Q6ZNF4, Q7Z5Q5, uc323ies.1, uc323ies.2
UCSC ID: ENST00000511885.6_8
RefSeq Accession: NM_181808.4
Protein: Q7Z5Q5 (aka DPOLN_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.