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Aliases for POLN Gene

Aliases for POLN Gene

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

External Ids for POLN Gene

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 (Polymerase (DNA Directed) Nu) is a Protein Coding gene. Among its related pathways are Fanconi anemia pathway (KEGG). GO annotations related to this gene include DNA-directed DNA polymerase activity. An important paralog of this gene is SNRNP200.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POLN Gene

Genomics for POLN Gene

Genomic Location for POLN Gene

Start:
2,071,918 bp from pter
End:
2,242,121 bp from pter
Size:
170,204 bases
Orientation:
Minus strand

Genomic View for POLN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for POLN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POLN Gene

Regulatory Elements 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:
    No Data Available
    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

Proteomics data for POLN Gene at MOPED

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 for POLN Gene

Gene Families for POLN Gene

HGNC:
  • POL :DNA polymerases

Protein Domains for POLN Gene

UniProtKB/Swiss-Prot:

DPOLN_HUMAN
Family:
  • Belongs to the DNA polymerase type-A family.:
    • Q7Z5Q5
genes like me logo Genes that share domains with POLN: view

Function for POLN Gene

Molecular function for POLN Gene

UniProtKB/Swiss-Prot CatalyticActivity: Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1)

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 --
GO:0003677 DNA binding IEA --
GO:0003887 DNA-directed DNA polymerase activity IDA 12794064
GO:0005515 protein binding IPI 19995904
GO:0030332 cyclin binding IPI 19995904
genes like me logo Genes that share ontologies with POLN: view

Phenotypes for POLN Gene

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

miRNA for POLN Gene

miRTarBase miRNAs that target POLN

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for POLN Gene

Localization for POLN Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLN Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for POLN Gene 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 --
GO:0005654 nucleoplasm IDA --
GO:0005730 NOT nucleolus IDA 12794064
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with POLN: view

Pathways for POLN Gene

SuperPathways for POLN Gene

Superpath Contained pathways
1 Fanconi anemia pathway (KEGG)
genes like me logo Genes that share pathways with POLN: view

Pathways by source 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 --
GO:0006261 DNA-dependent DNA replication IEA --
GO:0019985 translesion synthesis IMP 19908865
GO:0036297 interstrand cross-link repair IMP 19908865
genes like me logo Genes that share ontologies with POLN: view

Transcripts for POLN Gene

Unigene Clusters for POLN Gene

Polymerase (DNA directed) nu:
Representative Sequences:

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 for POLN Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for POLN Gene

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.
genes like me logo Genes that share expressions with POLN: view

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 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia POLN 37
  • 71 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POLN 37
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Poln 16
Poln 37
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia POLN 37
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
ManyToMany
chicken
(Gallus gallus)
Aves POLN 37
  • 49 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii haus3 37
  • 32 (a)
OneToOne
poln 36
  • 55.96 (n)
  • 48.57 (a)
worm
(Caenorhabditis elegans)
Secernentea helq-1 37
  • 6 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BRR2 37
  • 4 (a)
OneToMany
Species with no ortholog for POLN:
  • 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 MAF
rs86490 -- 2,071,570(-) CCCCT(A/G)GAGCT downstream-variant-500B
rs364213 -- 2,126,561(-) gtctc(C/T)gctcc intron-variant
rs364228 -- 2,126,594(-) tctcc(A/G)cttct intron-variant
rs366546 -- 2,163,599(-) AGAAA(C/G)TGATC intron-variant
rs377445 -- 2,163,595(-) AAGTG(A/T)CTTTA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv878418 CNV Loss 21882294
nsv822441 CNV Loss 20364138
esv2726835 CNV Deletion 23290073
dgv5420n71 CNV Loss 21882294
esv1032770 CNV Insertion 17803354
nsv4198 CNV Insertion 18451855
nsv291967 CNV Loss 16902084
nsv520780 CNV Gain 19592680
nsv829838 CNV Loss 17160897
nsv526094 CNV Loss 19592680
nsv878423 CNV Loss 21882294
esv2583887 CNV Insertion 19546169

Relevant External Links for POLN Gene

HapMap Linkage Disequilibrium report
POLN

Disorders for POLN Gene

Relevant External Links for POLN

Genetic Association Database (GAD)
POLN
Human Genome Epidemiology (HuGE) Navigator
POLN
genes like me logo Genes that share disorders with POLN: view

No data available for UniProtKB/Swiss-Prot 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 23
  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 23
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. A comprehensive genetic association study of Alzheimer disease in African Americans. (PMID: 22159054) Logue M.W. … Farrer L.A. (Arch. Neurol. 2011) 3 49
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 49

Products for POLN Gene

Sources for POLN Gene

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