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Aliases for POLN Gene

Aliases for POLN Gene

  • DNA Polymerase Nu 2 3 5
  • Polymerase (DNA Directed) Nu 2 3
  • Polymerase (DNA) Nu 2 3
  • DNA Polymerase POL4P 3
  • DNA Polymerase N 3
  • EC 2.7.7.7 4
  • POL4P 3

External Ids for POLN Gene

Previous GeneCards Identifiers for POLN Gene

  • GC04U900224
  • GC04M002035
  • GC04M002040

Summaries for POLN Gene

Entrez Gene Summary for POLN Gene

  • This gene encodes a DNA polymerase type-A family member. The encoded protein plays a role in DNA repair and homologous recombination. This gene shares its 5' exons with some transcripts from overlapping GeneID: 79441, which encodes an augmentin-like protein complex subunit. [provided by RefSeq, Dec 2014]

GeneCards Summary for POLN Gene

POLN (DNA Polymerase Nu) is a Protein Coding gene. Among its related pathways are Fanconi anemia pathway and DNA Double-Strand Break Repair. GO annotations related to this gene include nucleic acid binding and cyclin binding. An important paralog of this gene is POLQ.

UniProtKB/Swiss-Prot for POLN Gene

  • DNA polymerase with very low fidelity that catalyzes considerable misincorporation by inserting dTTP opposite a G template, and dGTP opposite a T template (PubMed:16787914, PubMed:17118716). Is the least accurate of the DNA polymerase A family (i.e. POLG, POLN and POLQ) (PubMed:17118716). Can perform accurate translesion DNA synthesis (TLS) past a 5S-thymine glycol. Can perform efficient strand displacement past a nick or a gap and gives rise to an amount of product similar to that on non-damaged template. Has no exonuclease activity (PubMed:16787914). Error-prone DNA polymerase that preferentially misincorporates dT regardless of template sequence (PubMed:25775266). May play a role in TLS during interstrand cross-link (ICL) repair (PubMed:19908865). May be involved in TLS when genomic replication is blocked by extremely large major groove DNA lesions. May function in the bypass of some DNA-protein and DNA-DNA cross-links. May have a role in cellular tolerance to DNA cross-linking agents (PubMed:20102227). Involved in the repair of DNA cross-links and double-strand break (DSB) resistance. Participates in FANCD2-mediated repair. Forms a complex with HELQ helicase that participates in homologous recombination (HR) repair and is essential for cellular protection against DNA cross-links (PubMed:19995904).

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POLN Gene

Genomics for POLN Gene

Regulatory Elements for POLN Gene

Enhancers for POLN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G002401 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11 -160.2 -160237 1.2 HDAC1 ATF1 PKNOX1 SIN3A ZNF48 RAD21 EGR1 KLF7 KLF13 EGR2 ZFYVE28 RNF4 LOC105374353 ENSG00000251148 MXD4 POLN HAUS3 C4orf48 NELFA GC04P002406
GH04G002393 1.5 Ensembl ENCODE dbSUPER 11 -151.7 -151661 0.8 HDGF ATF1 CREB3L1 GLIS2 ZNF766 GATA2 ELK1 CBX5 NCOA1 REST ZFYVE28 ENSG00000251148 MXD4 HAUS3 POLN LOC105374353 RNF4 NELFA C4orf48 PIR44270
GH04G002481 1.3 Ensembl ENCODE dbSUPER 10.5 -242.3 -242259 5.6 HDGF PKNOX1 EGR1 ZNF143 RELB ETV6 IKZF2 CREM EGR2 ZNF263 RNF4 ZFYVE28 TNIP2 LOC105374353 MXD4 HAUS3 POLN ENSG00000251148 SH3BP2 GC04P002484
GH04G002489 1.3 Ensembl ENCODE dbSUPER 10.3 -247.9 -247943 1.8 ZNF175 BACH1 CEBPG ZNF766 POLR2A ZNF600 TRIM24 FOS ZNF584 ZNF197 RNF4 LOC105374353 ZFYVE28 ENSG00000251148 MXD4 HAUS3 POLN TNIP2 GC04P002484 ENSG00000251229
GH04G002361 1.2 FANTOM5 ENCODE 11.1 -121.3 -121287 4.5 ATF1 PKNOX1 CREB3L1 AGO1 YY1 KDM4B ZNF592 NFIL3 SMARCA4 HMBOX1 ZFYVE28 ENSG00000251148 MXD4 CFAP99 LOC105374353 RNF4 HAUS3 POLN NELFA C4orf48
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around POLN on UCSC Golden Path with GeneCards custom track

Promoters for POLN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000164930 364 2001 HDGF PKNOX1 MLX CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 SLC30A9

Genomic Location for POLN Gene

Chromosome:
4
Start:
2,071,918 bp from pter
End:
2,242,164 bp from pter
Size:
170,247 bases
Orientation:
Minus strand

Genomic View for POLN Gene

Genes around POLN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POLN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POLN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POLN Gene

Proteins for POLN Gene

  • Protein details for POLN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z5Q5-DPOLN_HUMAN
    Recommended name:
    DNA polymerase nu
    Protein Accession:
    Q7Z5Q5
    Secondary Accessions:
    • A2A336
    • B4E158
    • Q4TTW4
    • Q6ZNF4

    Protein attributes for POLN Gene

    Size:
    900 amino acids
    Molecular mass:
    100307 Da
    Quaternary structure:
    • Interacts with FANCD2, FANCI, PCNA, RAD51 and HELQ.
    SequenceCaution:
    • Sequence=BAD18421.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for POLN Gene

    Alternative splice isoforms for POLN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POLN Gene

Post-translational modifications for POLN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for POLN Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for POLN Gene

Domains & Families for POLN Gene

Gene Families for POLN Gene

Protein Domains for POLN Gene

Suggested Antigen Peptide Sequences for POLN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7Z5Q5

UniProtKB/Swiss-Prot:

DPOLN_HUMAN :
  • Belongs to the DNA polymerase type-A family.
Family:
  • Belongs to the DNA polymerase type-A family.
genes like me logo Genes that share domains with POLN: view

Function for POLN Gene

Molecular function for POLN Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=7.0 uM for dATP:T {ECO:0000269 PubMed:16787914}; KM=8.2 uM for dCTP:G {ECO:0000269 PubMed:16787914}; KM=7.7 uM for dGTP:C {ECO:0000269 PubMed:16787914}; KM=7.3 uM for dTTP:A {ECO:0000269 PubMed:16787914}; pH dependence: Optimum pH is 8.8. {ECO:0000269 PubMed:16787914};
UniProtKB/Swiss-Prot CatalyticActivity:
Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by ddTTP.
UniProtKB/Swiss-Prot Function:
DNA polymerase with very low fidelity that catalyzes considerable misincorporation by inserting dTTP opposite a G template, and dGTP opposite a T template (PubMed:16787914, PubMed:17118716). Is the least accurate of the DNA polymerase A family (i.e. POLG, POLN and POLQ) (PubMed:17118716). Can perform accurate translesion DNA synthesis (TLS) past a 5S-thymine glycol. Can perform efficient strand displacement past a nick or a gap and gives rise to an amount of product similar to that on non-damaged template. Has no exonuclease activity (PubMed:16787914). Error-prone DNA polymerase that preferentially misincorporates dT regardless of template sequence (PubMed:25775266). May play a role in TLS during interstrand cross-link (ICL) repair (PubMed:19908865). May be involved in TLS when genomic replication is blocked by extremely large major groove DNA lesions. May function in the bypass of some DNA-protein and DNA-DNA cross-links. May have a role in cellular tolerance to DNA cross-linking agents (PubMed:20102227). Involved in the repair of DNA cross-links and double-strand break (DSB) resistance. Participates in FANCD2-mediated repair. Forms a complex with HELQ helicase that participates in homologous recombination (HR) repair and is essential for cellular protection against DNA cross-links (PubMed:19995904).

Enzyme Numbers (IUBMB) for POLN Gene

Gene Ontology (GO) - Molecular Function for POLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003887 DNA-directed DNA polymerase activity TAS --
GO:0005515 protein binding IPI 19995904
GO:0008409 NOT 5-3 exonuclease activity IBA --
genes like me logo Genes that share ontologies with POLN: view
genes like me logo Genes that share phenotypes with POLN: view

Animal Model Products

miRNA for POLN Gene

miRTarBase miRNAs that target POLN

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for POLN

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for POLN Gene

Localization for POLN Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLN Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POLN gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for POLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 12794064
GO:0005654 nucleoplasm TAS --
GO:0005730 NOT nucleolus IDA 12794064
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with POLN: view

Pathways & Interactions for POLN Gene

genes like me logo Genes that share pathways with POLN: view

Pathways by source for POLN Gene

2 Reactome pathways for POLN Gene
1 KEGG pathway for POLN Gene

Gene Ontology (GO) - Biological Process for POLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000724 double-strand break repair via homologous recombination IMP 19995904
GO:0006260 DNA replication IEA --
GO:0006261 DNA-dependent DNA replication IBA --
GO:0006281 DNA repair IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
genes like me logo Genes that share ontologies with POLN: view

No data available for SIGNOR curated interactions for POLN Gene

Drugs & Compounds for POLN Gene

(1) Additional Compounds for POLN Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
genes like me logo Genes that share compounds with POLN: view

Transcripts for POLN Gene

Unigene Clusters for POLN Gene

Polymerase (DNA directed) nu:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for POLN

Alternative Splicing Database (ASD) splice patterns (SP) for POLN Gene

No ASD Table

Relevant External Links for POLN Gene

GeneLoc Exon Structure for
POLN
ECgene alternative splicing isoforms for
POLN

Expression for POLN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for POLN Gene

Protein differential expression in normal tissues from HIPED for POLN Gene

This gene is overexpressed in Pancreatic juice (45.7), Plasma (13.7), and Tlymphocyte (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for POLN Gene



Protein tissue co-expression partners for POLN Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of POLN Gene:

POLN

SOURCE GeneReport for Unigene cluster for POLN Gene:

Hs.368454

mRNA Expression by UniProt/SwissProt for POLN Gene:

Q7Z5Q5-DPOLN_HUMAN
Tissue specificity: Highly expressed in testis and heart. Weakly expressed in skeletal muscle.

Evidence on tissue expression from TISSUES for POLN Gene

  • Nervous system(4.1)
  • Kidney(4)
genes like me logo Genes that share expression patterns with POLN: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for POLN Gene

Orthologs for POLN Gene

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

Orthologs for POLN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia POLN 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POLN 35
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Poln 35
  • 73 (a)
OneToOne
cow
(Bos Taurus)
Mammalia POLN 35
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia POLN 35
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
ManyToMany
chicken
(Gallus gallus)
Aves POLN 35
  • 49 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii poln 34
  • 55.96 (n)
haus3 35
  • 32 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea helq-1 35
  • 6 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BRR2 35
  • 4 (a)
OneToMany
Species where no ortholog for POLN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for POLN Gene

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

Paralogs for POLN Gene

Paralogs for POLN Gene

genes like me logo Genes that share paralogs with POLN: view

Variants for POLN Gene

Sequence variations from dbSNP and Humsavar for POLN Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs193920976 Uncertain significance 2,081,674(-) ACTCC(A/G)GGCAC reference, missense
rs1000016383 -- 2,149,542(+) TTTTT(C/G)TTATT intron-variant
rs1000028922 -- 2,189,696(+) AATGC(A/G)ATCTC intron-variant
rs1000033942 -- 2,091,120(+) TTGCT(C/G)TGGTC intron-variant
rs1000036190 -- 2,154,900(+) TTATG(C/T)TTACA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for POLN Gene

Variant ID Type Subtype PubMed ID
dgv8909n54 CNV loss 21841781
esv1032770 CNV insertion 17803354
esv2583887 CNV insertion 19546169
esv2726835 CNV deletion 23290073
esv3364243 CNV duplication 20981092
nsv1009347 CNV gain 25217958
nsv1128020 CNV deletion 24896259
nsv1131758 CNV deletion 24896259
nsv291967 CNV deletion 16902084
nsv4198 CNV insertion 18451855
nsv477892 CNV novel sequence insertion 20440878
nsv520780 CNV gain 19592680
nsv526094 CNV loss 19592680
nsv822441 CNV loss 20364138
nsv829838 CNV loss 17160897
nsv949757 CNV deletion 24416366
nsv966248 CNV duplication 23825009

Variation tolerance for POLN Gene

Residual Variation Intolerance Score: 95.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.19; 95.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for POLN Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
POLN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POLN Gene

Disorders for POLN Gene

Relevant External Links for POLN

Genetic Association Database (GAD)
POLN
Human Genome Epidemiology (HuGE) Navigator
POLN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
POLN

No disorders were found for POLN Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for POLN Gene

Publications for POLN Gene

  1. POLN, a nuclear PolA family DNA polymerase homologous to the DNA cross-link sensitivity protein Mus308. (PMID: 12794064) Marini F. … Wood R.D. (J. Biol. Chem. 2003) 2 3 4 22 64
  2. Evidence for the involvement of human DNA polymerase N in the repair of DNA interstrand cross-links. (PMID: 19908865) Zietlow L. … Bessho T. (Biochemistry 2009) 3 4 22 64
  3. A comprehensive genetic association study of Alzheimer disease in African Americans. (PMID: 22159054) Logue M.W. … Farrer L.A. (Arch. Neurol. 2011) 3 46 64
  4. DNA polymerase POLN participates in cross-link repair and homologous recombination. (PMID: 19995904) Moldovan G.L. … D'Andrea A.D. (Mol. Cell. Biol. 2010) 3 4 64
  5. Novel enzymatic function of DNA polymerase nu in translesion DNA synthesis past major groove DNA-peptide and DNA-DNA cross-links. (PMID: 20102227) Yamanaka K. … Lloyd R.S. (Chem. Res. Toxicol. 2010) 3 4 64

Products for POLN Gene

  • Addgene plasmids for POLN

Sources for POLN Gene

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