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Aliases for POLK Gene

Aliases for POLK Gene

  • DNA Polymerase Kappa 2 2 3 5
  • Polymerase (DNA Directed) Kappa 2 3
  • DINB Protein 2 4
  • EC 2.7.7.7 4 56
  • DINB1 3 4
  • DINP 3 4
  • Polymerase (DNA) 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

  • This gene encodes a member of the DNA polymerase type-Y family of proteins. The encoded protein is a specialized DNA polymerase that catalyzes translesion DNA synthesis, which allows DNA replication in the presence of DNA lesions. Human cell lines lacking a functional copy of this gene exhibit impaired genome integrity and enhanced susceptibility to oxidative damage. Mutations in this gene that impair enzyme activity may be associated with prostate cancer in human patients. [provided by RefSeq, Sep 2016]

GeneCards Summary for POLK Gene

POLK (DNA Polymerase Kappa) is a Protein Coding gene. Diseases associated with POLK include Prostate Cancer and Brain Compression. Among its related pathways are Chronic myeloid leukemia and Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template. Gene Ontology (GO) annotations related to this gene include damaged DNA binding and DNA-directed DNA polymerase activity. An important paralog of this gene is REV1.

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

Additional gene information for POLK Gene

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

Genomics for POLK Gene

GeneHancer (GH) Regulatory Elements for POLK Gene

Promoters and enhancers for POLK Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I075509 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 555 +0.9 862 5.4 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B COL4A3BP POLK GCNT4 ENSG00000247372 POC5 ENSG00000271815
GH05I074764 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 23.6 -744.5 -744507 3.9 ZFP64 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 ZC3H11A MEF2D NSA2 GFM2 RPS26P26 POLK POC5 ENSG00000272040 RNU6-658P FAM169A
GH05I074916 Enhancer 1.2 FANTOM5 ENCODE 10.3 -593.9 -593866 1.8 PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF48 ETS1 YY1 SLC30A9 RPS26P26 POLK LOC100131411 LOC105379039 ENSG00000249856
GH05I075335 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 5.7 -172.1 -172103 7.8 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARNT ARID4B SIN3A FEZF1 HMGCR POC5 RAP1BL RPS26P26 ANKDD1B GCNT4 POLK ENSG00000247372 GC05P075337 ENSG00000271815
GH05I074651 Enhancer 0.9 ENCODE dbSUPER 5.4 -859.0 -859049 1.3 MEIS2 ATF1 PKNOX1 TEAD4 TAL1 TCF12 ZNF366 CBFA2T2 ZNF600 NFE2 ENC1 POLK HEXB GC05M074726 RNU6-658P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around POLK on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the POLK gene promoter:

Genomic Locations for POLK Gene

Genomic Locations for POLK Gene
chr5:75,511,043-75,601,144
(GRCh38/hg38)
Size:
90,102 bases
Orientation:
Plus strand
chr5:74,807,581-74,896,969
(GRCh37/hg19)

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 (PubMed:11784855).

    Three dimensional structures from OCA and Proteopedia for POLK Gene

    Alternative splice isoforms for POLK Gene

neXtProt entry for POLK Gene

Selected DME Specific Peptides for POLK Gene

Q9UBT6:
  • DMDAFYA
  • AAVEMRD
  • LTASAGIAP

Post-translational modifications for POLK Gene

  • Ubiquitination at isoforms=3, 8641 and Lys772

Domains & Families for POLK Gene

Gene Families for POLK Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

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.
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.
Family:
  • Belongs to the DNA polymerase type-Y family.
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. {ECO:0000269 PubMed:11024016}; Temperature dependence: Optimum temperature is 37 degrees Celsius. {ECO:0000269 PubMed:11024016};
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

Phenotypes From GWAS Catalog for POLK Gene

Gene Ontology (GO) - Molecular Function for POLK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003684 damaged DNA binding IEA --
GO:0003887 DNA-directed DNA polymerase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016779 nucleotidyltransferase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with POLK: view
genes like me logo Genes that share phenotypes with POLK: view

Animal Models for POLK Gene

MGI Knock Outs for POLK:

Animal Model Products

CRISPR Products

miRNA for POLK Gene

miRTarBase miRNAs that target POLK

Inhibitory RNA Products

No data available for 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 (PubMed:12414988). Recruited to DNA damage sites in response to ultraviolet irradiation: N6-methyladenosine (m6A)-containing mRNAs accumulate in the vicinity of DNA damage sites and their presence is required to recruit POLK (PubMed:28297716). {ECO:0000269 PubMed:12414988, ECO:0000269 PubMed:28297716}.

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 POLK gene
Compartment Confidence
nucleus 5
peroxisome 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for POLK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0016604 nuclear body IDA --
GO:0090734 colocalizes_with site of DNA damage IDA 28297716
genes like me logo Genes that share ontologies with POLK: view

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:0006281 DNA repair TAS 10620008
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
GO:0006296 nucleotide-excision repair, DNA incision, 5-to lesion TAS --
GO:0006297 nucleotide-excision repair, DNA gap filling IMP,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: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Magnesium Approved Nutra 0
Manganese Approved Nutra 37
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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for POLK Gene



NURSA nuclear receptor signaling pathways regulating expression of POLK Gene:

POLK

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.

Evidence on tissue expression from TISSUES for POLK Gene

  • Nervous system(4.8)
  • Spleen(4.2)
  • Urine(2.1)
genes like me logo Genes that share expression patterns with POLK: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia POLK 33 34
  • 99.58 (n)
dog
(Canis familiaris)
Mammalia POLK 33 34
  • 89.48 (n)
cow
(Bos Taurus)
Mammalia POLK 33 34
  • 88.26 (n)
mouse
(Mus musculus)
Mammalia Polk 33 16 34
  • 81.41 (n)
rat
(Rattus norvegicus)
Mammalia Polk 33
  • 79.02 (n)
oppossum
(Monodelphis domestica)
Mammalia POLK 34
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POLK 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves POLK 33
  • 66.95 (n)
DINB1 34
  • 54 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POLK 34
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia polk 33
  • 70.09 (n)
zebrafish
(Danio rerio)
Actinopterygii polk 33 34
  • 59.17 (n)
worm
(Caenorhabditis elegans)
Secernentea polk-1 33 34
  • 49.72 (n)
F22B7.6 35
  • 42 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes REV1 34
  • 9 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os.9549 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 53 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes kpa1 33
  • 48.41 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02457 33
  • 47 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11566 33
Species where no ortholog for POLK 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)
  • 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 Variation AA Info Type
rs111584802 pathogenic, Malignant tumor of prostate 75,587,055(+) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs139591993 pathogenic, Malignant tumor of prostate 75,596,275(+) A/C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs148960463 pathogenic, Malignant tumor of prostate 75,547,107(+) G/A 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs749804502 pathogenic, Malignant tumor of prostate 75,573,790(+) G/A/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs770984846 pathogenic, Malignant tumor of prostate 75,590,368(+) G/A coding_sequence_variant, non_coding_transcript_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
dgv9883n54 CNV loss 21841781
esv3570200 CNV loss 25503493
esv3605448 CNV loss 21293372
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)

Additional Variant Information for POLK Gene

Human Gene Mutation Database (HGMD)
POLK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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: HGMD, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
prostate cancer
  • prostate cancer, susceptibility to
brain compression
  • compression of brain
cholinergic urticaria
testicular lymphoma
  • lymphoma of the testis
cycloplegia
  • ciliary muscle paresis
- elite association - COSMIC cancer census association via MalaCards
Search POLK in MalaCards View complete list of genes associated with diseases

Additional Disease Information for POLK

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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. Multiple PolK (POLK) transcripts in mammalian testis. (PMID: 15661663) Guo C … Friedberg EC (DNA repair 2005) 3 4 22 58
  2. Human DNA polymerase kappa bypasses and extends beyond thymine glycols during translesion synthesis in vitro, preferentially incorporating correct nucleotides. (PMID: 12145297) Fischhaber PL … Friedberg EC (The Journal of biological chemistry 2002) 3 4 22 58
  3. Error-prone bypass of certain DNA lesions by the human DNA polymerase kappa. (PMID: 10887153) Ohashi E … Ohmori H (Genes & development 2000) 2 3 22 58
  4. Human and mouse homologs of Escherichia coli DinB (DNA polymerase IV), members of the UmuC/DinB superfamily. (PMID: 10518552) Gerlach VL … Friedberg EC (Proceedings of the National Academy of Sciences of the United States of America 1999) 2 3 4 58
  5. RNA m6A methylation regulates the ultraviolet-induced DNA damage response. (PMID: 28297716) Xiang Y … Shi Y (Nature 2017) 3 4 58

Products for POLK Gene

Sources for POLK Gene

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