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Aliases for POLK Gene

Aliases for POLK Gene

  • Polymerase (DNA) Kappa 2 3
  • Polymerase (DNA Directed) Kappa 2 3 5
  • DINB Protein 2 4
  • EC 2.7.7.7 4 63
  • DINB1 3 4
  • DINP 3 4
  • DNA Polymerase Kappa 2
  • POLQ 3

External Ids for POLK Gene

Previous HGNC Symbols for POLK Gene

  • DINB1

Previous GeneCards Identifiers for POLK Gene

  • GC05P073614
  • GC05P075044
  • GC05P074846
  • GC05P074891
  • GC05P074843
  • GC05P070013

Summaries for POLK Gene

Entrez Gene Summary for POLK Gene

  • External and internal DNA-damaging agents continually threaten the integrity of genetic material in cells. Although a variety of repair mechanisms exist to remove the resulting lesions, some lesions escape repair and block the replication machinery. Members of the Y family of DNA polymerases, such as POLK, permit the continuity of the replication fork by allowing replication through such DNA lesions. Each Y family polymerase has a unique DNA-damage bypass and fidelity profile. POLK is specialized for the extension step of lesion bypass (summary by Lone et al., 2007 [PubMed 17317631]).[supplied by OMIM, Jan 2010]

GeneCards Summary for POLK Gene

POLK (Polymerase (DNA) Kappa) is a Protein Coding gene. Diseases associated with POLK include prostate cancer and brain compression. Among its related pathways are DNA Double-Strand Break Repair and p53 Pathway (RnD). GO annotations related to this gene include damaged DNA binding and DNA-directed DNA polymerase activity. An important paralog of this gene is POLH.

UniProtKB/Swiss-Prot for POLK Gene

  • 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. Depending on the context, it inserts the correct base, but causes frequent base transitions, transversions and frameshifts. Lacks 3-5 proofreading exonuclease activity. Forms a Schiff base with 5-deoxyribose phosphate at abasic sites, but does not have lyase activity.

Gene Wiki entry for POLK Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POLK Gene

Genomics for POLK Gene

Regulatory Elements for POLK Gene

Promoters for POLK Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around POLK on UCSC Golden Path with GeneCards custom track

Genomic Location for POLK Gene

Chromosome:
5
Start:
75,511,043 bp from pter
End:
75,601,144 bp from pter
Size:
90,102 bases
Orientation:
Plus strand

Genomic View for POLK Gene

Genes around POLK on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for POLK Gene

Proteins for POLK Gene

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

    Protein Symbol:
    Q9UBT6-POLK_HUMAN
    Recommended name:
    DNA polymerase kappa
    Protein Accession:
    Q9UBT6
    Secondary Accessions:
    • B2RBD2
    • Q5Q9G5
    • Q5Q9G6
    • Q5Q9G7
    • Q5Q9G8
    • Q86VJ8
    • Q8IZY0
    • Q8IZY1
    • Q8NB30
    • Q96L01
    • Q96Q86
    • Q96Q87
    • Q9UHC5

    Protein attributes for POLK Gene

    Size:
    870 amino acids
    Molecular mass:
    98809 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Interacts with REV1 (By similarity). Interacts with PCNA.

    Three dimensional structures from OCA and Proteopedia for POLK Gene

    Alternative splice isoforms for POLK Gene

neXtProt entry for POLK Gene

Proteomics data for POLK Gene at MOPED

Selected DME Specific Peptides for POLK Gene

Post-translational modifications for POLK Gene

  • Ubiquitination at Lys 641 and Lys 772
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for POLK Gene

Gene Families for POLK Gene

Suggested Antigen Peptide Sequences for POLK Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UBT6

UniProtKB/Swiss-Prot:

POLK_HUMAN :
  • 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.
  • Belongs to the DNA polymerase type-Y family.
  • Contains 2 UBZ-type zinc fingers.
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.
  • Contains 1 umuC domain.
Family:
  • Belongs to the DNA polymerase type-Y family.
Similarity:
  • Contains 2 UBZ-type zinc fingers.
genes like me logo Genes that share domains with POLK: view

Function for POLK Gene

Molecular function for POLK Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 6.5-7.5.; Temperature dependence: Optimum temperature is 37 degrees Celsius.;
UniProtKB/Swiss-Prot CatalyticActivity:
Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).
UniProtKB/Swiss-Prot Function:
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. Depending on the context, it inserts the correct base, but causes frequent base transitions, transversions and frameshifts. Lacks 3-5 proofreading exonuclease activity. Forms a Schiff base with 5-deoxyribose phosphate at abasic sites, but does not have lyase activity.

Enzyme Numbers (IUBMB) for POLK Gene

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

Animal Models for POLK Gene

MGI Knock Outs for POLK:

Animal Model Products

miRNA for POLK Gene

miRTarBase miRNAs that target POLK

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for POLK Gene

Localization for POLK Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLK Gene

Nucleus. Note=Detected throughout the nucleus and at replication foci.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for POLK Gene COMPARTMENTS Subcellular localization image for POLK gene
Compartment Confidence
nucleus 5
cytosol 2
peroxisome 2

No data available for Gene Ontology (GO) - Cellular Components for POLK Gene

Pathways & Interactions for POLK Gene

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

Gene Ontology (GO) - Biological Process for POLK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006260 DNA replication IEA --
GO:0006296 nucleotide-excision repair, DNA incision, 5-to lesion TAS --
GO:0006297 nucleotide-excision repair, DNA gap filling TAS --
GO:0019985 translesion synthesis TAS --
GO:0033683 nucleotide-excision repair, DNA incision TAS --
genes like me logo Genes that share ontologies with POLK: view

No data available for SIGNOR curated interactions for POLK Gene

Drugs & Compounds for POLK Gene

(10) Drugs for POLK Gene - From: HMDB, DrugBank, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
1,2,3-TRIHYDROXY-1,2,3,4-TETRAHYDROBENZO[A]PYRENE Experimental Pharma Target 0
1-[2-DEOXYRIBOFURANOSYL]-2,4-DIFLUORO-5-METHYL-BENZENE-5'MONOPHOSPHATE Experimental Pharma Target 0
2'-deoxy-N-(naphthalen-1-ylmethyl)guanosine 5'-(dihydrogen phosphate) Experimental Pharma Target 0
dctp Experimental Pharma 0
Deoxyadenosine triphosphate Experimental Pharma 0

(3) Additional Compounds for POLK Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Thymidine 5'-triphosphate
  • 2'-Deoxythymidine 5'-triphosphate
  • 2'-Deoxythymidine triphosphate
  • 5'-TTP
  • 5-Methyl-dUTP
  • Deoxy-TTP
365-08-2
genes like me logo Genes that share compounds with POLK: view

Transcripts for POLK Gene

Unigene Clusters for POLK Gene

Polymerase (DNA directed) kappa:
Representative Sequences:

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

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b · 16c · 16d
SP1: -
SP2:
SP3: -
SP4: - -
SP5: - - -
SP6: - - -
SP7: - -
SP8: - - - -
SP9: - - - - - - -

Relevant External Links for POLK Gene

GeneLoc Exon Structure for
POLK
ECgene alternative splicing isoforms for
POLK

Expression for POLK Gene

mRNA expression in normal human tissues for POLK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for POLK Gene

This gene is overexpressed in Liver (36.5), Ovary (9.7), Peripheral blood mononuclear cells (9.0), and Pancreatic juice (7.0).

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



SOURCE GeneReport for Unigene cluster for POLK Gene Hs.135756

mRNA Expression by UniProt/SwissProt for POLK Gene

Q9UBT6-POLK_HUMAN
Tissue specificity: Detected at low levels in testis, spleen, prostate and ovary. Detected at very low levels in kidney, colon, brain, heart, liver, lung, placenta, pancreas and peripheral blood leukocytes.
genes like me logo Genes that share expression patterns with POLK: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for POLK Gene

Orthologs for POLK Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for POLK Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia POLK 35
  • 88.26 (n)
  • 84.18 (a)
POLK 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POLK 35
  • 89.48 (n)
  • 84.98 (a)
POLK 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Polk 35
  • 81.41 (n)
  • 77.53 (a)
Polk 16
Polk 36
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia POLK 35
  • 99.58 (n)
  • 99.2 (a)
POLK 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Polk 35
  • 79.02 (n)
  • 75.06 (a)
oppossum
(Monodelphis domestica)
Mammalia POLK 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POLK 36
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves POLK 35
  • 66.95 (n)
  • 60.87 (a)
DINB1 36
  • 54 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POLK 36
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia polk 35
  • 70.09 (n)
  • 72.6 (a)
zebrafish
(Danio rerio)
Actinopterygii polk 35
  • 59.17 (n)
  • 56.86 (a)
polk 36
  • 47 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F22B7.6 37
  • 42 (a)
polk-1 35
  • 49.72 (n)
  • 46.07 (a)
polk-1 36
  • 42 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes REV1 36
  • 9 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os.9549 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11566 35
bread mold
(Neurospora crassa)
Ascomycetes NCU02457 35
  • 47 (n)
  • 40.78 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes kpa1 35
  • 48.41 (n)
  • 38.14 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 53 (a)
OneToOne
Species with no ortholog for POLK:
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for POLK Gene

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

Paralogs for POLK Gene

Paralogs for POLK Gene

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

Variants for POLK Gene

Sequence variations from dbSNP and Humsavar for POLK Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs5744713 - 75,596,477(+) CCAGA(C/T)ATCAC nc-transcript-variant, downstream-variant-500B, reference, missense
rs3822587 - 75,596,527(+) TGGAA(A/G)TATCA nc-transcript-variant, downstream-variant-500B, reference, missense
rs5744716 - 75,597,756(+) CTCAA(A/G)TGGAG nc-transcript-variant, reference, missense
rs35257416 - 75,590,351(+) CATTC(A/C)GTGAG nc-transcript-variant, reference, missense
rs35501530 - 75,596,597(+) CATCA(A/G)TCTGG nc-transcript-variant, downstream-variant-500B, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv6183n71 CNV Loss 21882294
dgv6184n71 CNV Loss 21882294
nsv882200 CNV Loss 21882294
nsv882201 CNV Loss 21882294
nsv882202 CNV Loss 21882294
nsv882203 CNV Loss 21882294
dgv6185n71 CNV Loss 21882294
nsv4881 CNV Insertion 18451855
nsv518475 CNV Gain 19592680

Variation tolerance for POLK Gene

Residual Variation Intolerance Score: 72.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.73; 46.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for POLK Gene

HapMap Linkage Disequilibrium report
POLK
Human Gene Mutation Database (HGMD)
POLK

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

Disorders for POLK Gene

MalaCards: The human disease database

(6) MalaCards diseases for POLK Gene - From: ClinVar and DISEASES

Disorder Aliases PubMed IDs
prostate cancer
  • prostate cancer, hereditary, 5
brain compression
  • compression of brain
cholinergic urticaria
physical urticaria
  • symptomatic dermographism
testicular lymphoma
  • lymphoma of the testis
- elite association - COSMIC cancer census association via MalaCards
Search POLK in MalaCards View complete list of genes associated with diseases

Relevant External Links for POLK

Genetic Association Database (GAD)
POLK
Human Genome Epidemiology (HuGE) Navigator
POLK
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
POLK
genes like me logo Genes that share disorders with POLK: view

No data available for UniProtKB/Swiss-Prot and Genatlas for POLK Gene

Publications for POLK Gene

  1. Human and mouse homologs of Escherichia coli DinB (DNA polymerase IV), members of the UmuC/DinB superfamily. (PMID: 10518552) Gerlach V.L. … Friedberg E.C. (Proc. Natl. Acad. Sci. U.S.A. 1999) 2 3 4 67
  2. Error-prone bypass of certain DNA lesions by the human DNA polymerase kappa. (PMID: 10887153) Ohashi E. … Ohmori H. (Genes Dev. 2000) 2 3 23
  3. Structural and functional elucidation of the mechanism promoting error-prone synthesis by human DNA polymerase kappa opposite the 7,8-dihydro-8-oxo-2'-deoxyguanosine adduct. (PMID: 19542228) Irimia A. … Egli M. (J. Biol. Chem. 2009) 3 23
  4. Multiple PolK (POLK) transcripts in mammalian testis. (PMID: 15661663) Guo C. … Friedberg E.C. (DNA Repair 2005) 3 23
  5. Human DNA polymerase kappa bypasses and extends beyond thymine glycols during translesion synthesis in vitro, preferentially incorporating correct nucleotides. (PMID: 12145297) Fischhaber P.L. … Friedberg E.C. (J. Biol. Chem. 2002) 3 23

Products for POLK Gene

Sources for POLK Gene

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