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POLK DNA polymerase kappa [ Homo sapiens (human) ]

Gene ID: 51426, updated on 3-Nov-2024

Summary

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Official Symbol
POLKprovided by HGNC
Official Full Name
DNA polymerase kappaprovided by HGNC
Primary source
HGNC:HGNC:9183
See related
Ensembl:ENSG00000122008 MIM:605650; AllianceGenome:HGNC:9183
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DINP; POLQ; DINB1
Summary
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]
Expression
Ubiquitous expression in thyroid (RPKM 6.4), testis (RPKM 4.9) and 25 other tissues See more
Orthologs
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Genomic context

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See POLK in Genome Data Viewer
Location:
5q13.3
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (75510774..75609991)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (75992960..76091061)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (74807716..74905816)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:74632956-74633516 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:74633517-74634075 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22679 Neighboring gene 3-hydroxy-3-methylglutaryl-CoA reductase Neighboring gene ReSE screen-validated silencer GRCh37_chr5:74675495-74675665 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:74683071-74684270 Neighboring gene ribosomal protein S26 pseudogene 26 Neighboring gene ceramide transporter 1 Neighboring gene MPRA-validated peak5292 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:74723894-74724394 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:74724395-74724895 Neighboring gene MPRA-validated peak5293 silencer Neighboring gene MPRA-validated peak5294 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22680 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22681 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:74832057-74832255 Neighboring gene RNA, U7 small nuclear 175 pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:74861405-74862604 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22682 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22683 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:74884456-74885040 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:74905964-74906771 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:74906772-74907578 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:74907579-74908385 Neighboring gene ankyrin repeat and death domain containing 1B Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:74959194-74960393 Neighboring gene NANOG hESC enhancer GRCh37_chr5:74962804-74963305 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:74991871-74992409 Neighboring gene POC5 centriolar protein Neighboring gene RNA, U6 small nuclear 680, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. In vivo evidence that phenylalanine 171 acts as a molecular brake for translesion DNA synthesis across benzo[a]pyrene DNA adducts by human DNA polymerase κ. Sassa A, et al. DNA Repair (Amst), 2014 Mar. PMID 24461735
  2. The steric gate amino acid tyrosine 112 is required for efficient mismatched-primer extension by human DNA polymerase kappa. Niimi N, et al. Biochemistry, 2009 May 26. PMID 19341290
  3. Structure of human DNA polymerase kappa inserting dATP opposite an 8-OxoG DNA lesion. Vasquez-Del Carpio R, et al. PLoS One, 2009 Jun 2. PMID 19492058, Free PMC Article
  4. 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. Irimia A, et al. J Biol Chem, 2009 Aug 14. PMID 19542228, Free PMC Article
  5. Phenylalanine 171 is a molecular brake for translesion synthesis across benzo[a]pyrene-guanine adducts by human DNA polymerase kappa. Sassa A, et al. Mutat Res, 2011 Jan 10. PMID 21078407

See all (122) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Temozolomide resistance mechanisms: unveiling the role of translesion DNA polymerase kappa in glioblastoma spheroids in vitro.
    Title: Temozolomide resistance mechanisms: unveiling the role of translesion DNA polymerase kappa in glioblastoma spheroids in vitro.
  2. Effects of the Y432S Cancer-Associated Variant on the Reaction Mechanism of Human DNA Polymerase kappa.
    Title: Effects of the Y432S Cancer-Associated Variant on the Reaction Mechanism of Human DNA Polymerase κ.
  3. Biochemical Activity of 17 Cancer-Associated Variants of DNA Polymerase Kappa Predicted by Electrostatic Properties.
    Title: Biochemical Activity of 17 Cancer-Associated Variants of DNA Polymerase Kappa Predicted by Electrostatic Properties.
  4. Miscoding and DNA Polymerase Stalling by Methoxyamine-Adducted Abasic Sites.
    Title: Miscoding and DNA Polymerase Stalling by Methoxyamine-Adducted Abasic Sites.
  5. Cryo-EM structure of human Pol kappa bound to DNA and mono-ubiquitylated PCNA.
    Title: Cryo-EM structure of human Pol κ bound to DNA and mono-ubiquitylated PCNA.
  6. DNA polymerases eta and kappa bypass N(2)-guanine-O(6)-alkylguanine DNA alkyltransferase cross-linked DNA-peptides.
    Title: DNA polymerases η and κ bypass N(2)-guanine-O(6)-alkylguanine DNA alkyltransferase cross-linked DNA-peptides.
  7. Regulation of the error-prone DNA polymerase Polkappa by oncogenic signaling and its contribution to drug resistance.
    Title: Regulation of the error-prone DNA polymerase Polκ by oncogenic signaling and its contribution to drug resistance.
  8. Translesion synthesis of 6-nitrochrysene-derived 2'-deoxyadenosine adduct in human cells.
    Title: Translesion synthesis of 6-nitrochrysene-derived 2'-deoxyadenosine adduct in human cells.
  9. Kinetic Investigation of Translesion Synthesis across a 3-Nitrobenzanthrone-Derived DNA Lesion Catalyzed by Human DNA Polymerase Kappa.
    Title: Kinetic Investigation of Translesion Synthesis across a 3-Nitrobenzanthrone-Derived DNA Lesion Catalyzed by Human DNA Polymerase Kappa.
  10. The polymorphisms (rs3213801 and rs5744533) of DNA polymerase kappa gene are not related with glioma risk and prognosis: A case-control study.
    Title: The polymorphisms (rs3213801 and rs5744533) of DNA polymerase kappa gene are not related with glioma risk and prognosis: A case-control study.
Submit: New GeneRIF Correction See all GeneRIFs (79)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-directed DNA polymerase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables damaged DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in DNA damage response IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in DNA repair IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in DNA repair TAS
Traceable Author Statement
more info
 PubMed 
involved_in DNA replication IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to UV IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in error-prone translesion synthesis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in error-prone translesion synthesis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in nucleotide-excision repair, DNA gap filling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in nuclear body IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
colocalizes_with site of DNA damage IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
DNA polymerase kappa
Names
polymerase (DNA directed) kappa
NP_001332850.1
NP_001332851.1
NP_001374039.1
NP_001374040.1
NP_001374042.1
NP_001382822.1
NP_001382823.1
NP_001382826.1
NP_001382828.1
NP_001382829.1
NP_001382830.1
NP_001382831.1
NP_057302.1
XP_054184385.1
XP_054184386.1
XP_054184387.1
XP_054184388.1
XP_054184389.1
XP_054184390.1
XP_054184391.1
XP_054184392.1
XP_054184393.1
XP_054184394.1
XP_054184395.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_051590.2 RefSeqGene

    Range
    4861..98931
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001345921.3 → NP_001332850.1  DNA polymerase kappa isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC010245, AC026424, AC116341
    UniProtKB/TrEMBL
    Q59G18
    Conserved Domains (3) summary
    smart00734
    Location:555 → 581
    ZnF_Rad18; Rad18-like CCHC zinc finger
    cd03586
    Location:38 → 450
    PolY_Pol_IV_kappa; DNA Polymerase IV/Kappa
    cl02765
    Location:710 → 736
    zf-WRNIP1_ubi; Werner helicase-interacting protein 1 ubiquitin-binding domain

  2. NM_001345922.3 → NP_001332851.1  DNA polymerase kappa isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC010245, AC026424, AC116341
    UniProtKB/TrEMBL
    Q59G18
    Conserved Domains (3) summary
    smart00734
    Location:531 → 557
    ZnF_Rad18; Rad18-like CCHC zinc finger
    cd03586
    Location:14 → 426
    PolY_Pol_IV_kappa; DNA Polymerase IV/Kappa
    cl02765
    Location:686 → 712
    zf-WRNIP1_ubi; Werner helicase-interacting protein 1 ubiquitin-binding domain

  3. NM_001387110.3 → NP_001374039.1  DNA polymerase kappa isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC010245, AC026424, AC116341
    UniProtKB/TrEMBL
    Q59G18
    Conserved Domains (3) summary
    smart00734
    Location:618 → 644
    ZnF_Rad18; Rad18-like CCHC zinc finger
    cd03586
    Location:104 → 513
    PolY_Pol_IV_kappa; DNA Polymerase IV/Kappa
    cl02765
    Location:773 → 799
    zf-WRNIP1_ubi; Werner helicase-interacting protein 1 ubiquitin-binding domain

  4. NM_001387111.3 → NP_001374040.1  DNA polymerase kappa isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC010245, AC026424, AC116341
    UniProtKB/TrEMBL
    Q59G18
    Conserved Domains (3) summary
    smart00734
    Location:635 → 661
    ZnF_Rad18; Rad18-like CCHC zinc finger
    cd03586
    Location:104 → 530
    PolY_Pol_IV_kappa; DNA Polymerase IV/Kappa
    cl02765
    Location:790 → 816
    zf-WRNIP1_ubi; Werner helicase-interacting protein 1 ubiquitin-binding domain

  5. NM_001387113.3 → NP_001374042.1  DNA polymerase kappa isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC010245, AC026424, AC116341
    Consensus CDS
    CCDS4030.1
    UniProtKB/Swiss-Prot
    B2RBD2, Q5Q9G5, Q5Q9G6, Q5Q9G7, Q5Q9G8, Q86VJ8, Q8IZY0, Q8IZY1, Q8NB30, Q96L01, Q96Q86, Q96Q87, Q9UBT6, Q9UHC5
    UniProtKB/TrEMBL
    Q59G18
    Conserved Domains (3) summary
    smart00734
    Location:621 → 647
    ZnF_Rad18; Rad18-like CCHC zinc finger
    cd03586
    Location:104 → 516
    PolY_Pol_IV_kappa; DNA Polymerase IV/Kappa
    cl02765
    Location:776 → 802
    zf-WRNIP1_ubi; Werner helicase-interacting protein 1 ubiquitin-binding domain

  6. NM_001395893.1 → NP_001382822.1  DNA polymerase kappa isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC010245, AC026424, AC116341
    UniProtKB/TrEMBL
    Q59G18
    Conserved Domains (3) summary
    smart00734
    Location:531 → 557
    ZnF_Rad18; Rad18-like CCHC zinc finger
    cd03586
    Location:14 → 426
    PolY_Pol_IV_kappa; DNA Polymerase IV/Kappa
    cl02765
    Location:686 → 712
    zf-WRNIP1_ubi; Werner helicase-interacting protein 1 ubiquitin-binding domain

  7. NM_001395894.1 → NP_001382823.1  DNA polymerase kappa isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC010245, AC026424, AC116341
    UniProtKB/TrEMBL
    Q59G18
    Conserved Domains (3) summary
    smart00734
    Location:635 → 661
    ZnF_Rad18; Rad18-like CCHC zinc finger
    cd03586
    Location:104 → 530
    PolY_Pol_IV_kappa; DNA Polymerase IV/Kappa
    cl02765
    Location:790 → 816
    zf-WRNIP1_ubi; Werner helicase-interacting protein 1 ubiquitin-binding domain

  8. NM_001395897.1 → NP_001382826.1  DNA polymerase kappa isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC010245, AC026424, AC116341
    UniProtKB/TrEMBL
    Q59G18
    Conserved Domains (3) summary
    smart00734
    Location:634 → 660
    ZnF_Rad18; Rad18-like CCHC zinc finger
    cd03586
    Location:104 → 529
    PolY_Pol_IV_kappa; DNA Polymerase IV/Kappa
    cl02765
    Location:789 → 815
    zf-WRNIP1_ubi; Werner helicase-interacting protein 1 ubiquitin-binding domain

  9. NM_001395899.1 → NP_001382828.1  DNA polymerase kappa isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC010245, AC026424, AC116341
    UniProtKB/TrEMBL
    Q59G18
    Conserved Domains (3) summary
    smart00734
    Location:570 → 596
    ZnF_Rad18; Rad18-like CCHC zinc finger
    cd03586
    Location:86 → 465
    PolY_Pol_IV_kappa; DNA Polymerase IV/Kappa
    cl02765
    Location:725 → 751
    zf-WRNIP1_ubi; Werner helicase-interacting protein 1 ubiquitin-binding domain

  10. NM_001395900.1 → NP_001382829.1  DNA polymerase kappa isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC010245, AC026424, AC116341
    UniProtKB/TrEMBL
    Q59G18
    Conserved Domains (3) summary
    smart00734
    Location:555 → 581
    ZnF_Rad18; Rad18-like CCHC zinc finger
    cd03586
    Location:38 → 450
    PolY_Pol_IV_kappa; DNA Polymerase IV/Kappa
    cl02765
    Location:710 → 736
    zf-WRNIP1_ubi; Werner helicase-interacting protein 1 ubiquitin-binding domain

  11. NM_001395901.1 → NP_001382830.1  DNA polymerase kappa isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC010245, AC026424, AC116341
    UniProtKB/TrEMBL
    Q59G18
    Conserved Domains (3) summary
    smart00734
    Location:541 → 567
    ZnF_Rad18; Rad18-like CCHC zinc finger
    cd03586
    Location:104 → 436
    PolY_Pol_IV_kappa; DNA Polymerase IV/Kappa
    cl02765
    Location:696 → 722
    zf-WRNIP1_ubi; Werner helicase-interacting protein 1 ubiquitin-binding domain

  12. NM_001395902.1 → NP_001382831.1  DNA polymerase kappa isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC010245, AC026424, AC116341
    UniProtKB/TrEMBL
    Q59G18
    Conserved Domains (3) summary
    smart00734
    Location:531 → 557
    ZnF_Rad18; Rad18-like CCHC zinc finger
    cd03586
    Location:14 → 426
    PolY_Pol_IV_kappa; DNA Polymerase IV/Kappa
    cl02765
    Location:686 → 712
    zf-WRNIP1_ubi; Werner helicase-interacting protein 1 ubiquitin-binding domain

  13. NM_016218.6 → NP_057302.1  DNA polymerase kappa isoform 1

    See identical proteins and their annotated locations for NP_057302.1

    Status: REVIEWED

    Source sequence(s)
    AC010245, AC026424, AC116341
    Consensus CDS
    CCDS4030.1
    UniProtKB/Swiss-Prot
    B2RBD2, Q5Q9G5, Q5Q9G6, Q5Q9G7, Q5Q9G8, Q86VJ8, Q8IZY0, Q8IZY1, Q8NB30, Q96L01, Q96Q86, Q96Q87, Q9UBT6, Q9UHC5
    UniProtKB/TrEMBL
    Q59G18
    Related
    ENSP00000241436.4, ENST00000241436.9
    Conserved Domains (3) summary
    smart00734
    Location:621 → 647
    ZnF_Rad18; Rad18-like CCHC zinc finger
    cd03586
    Location:104 → 516
    PolY_Pol_IV_kappa; DNA Polymerase IV/Kappa
    cl02765
    Location:776 → 802
    zf-WRNIP1_ubi; Werner helicase-interacting protein 1 ubiquitin-binding domain

RNA

  1. NR_144315.3 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC010245, AC026424, AC116341

  2. NR_170559.3 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC010245, AC026424, AC116341

  3. NR_170560.3 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC010245, AC026424, AC116341

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    75510774..75609991
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054328411.1 → XP_054184386.1  DNA polymerase kappa isoform X1

  2. XM_054328417.1 → XP_054184392.1  DNA polymerase kappa isoform X2

    UniProtKB/Swiss-Prot
    B2RBD2, Q5Q9G5, Q5Q9G6, Q5Q9G7, Q5Q9G8, Q86VJ8, Q8IZY0, Q8IZY1, Q8NB30, Q96L01, Q96Q86, Q96Q87, Q9UBT6, Q9UHC5

  3. XM_054328410.1 → XP_054184385.1  DNA polymerase kappa isoform X1

  4. XM_054328412.1 → XP_054184387.1  DNA polymerase kappa isoform X1

  5. XM_054328419.1 → XP_054184394.1  DNA polymerase kappa isoform X4

    Related
    ENSP00000424174.1, ENST00000515295.5

  6. XM_054328413.1 → XP_054184388.1  DNA polymerase kappa isoform X1

  7. XM_054328416.1 → XP_054184391.1  DNA polymerase kappa isoform X2

    UniProtKB/Swiss-Prot
    B2RBD2, Q5Q9G5, Q5Q9G6, Q5Q9G7, Q5Q9G8, Q86VJ8, Q8IZY0, Q8IZY1, Q8NB30, Q96L01, Q96Q86, Q96Q87, Q9UBT6, Q9UHC5

  8. XM_054328415.1 → XP_054184390.1  DNA polymerase kappa isoform X1

  9. XM_054328414.1 → XP_054184389.1  DNA polymerase kappa isoform X1

  10. XM_054328418.1 → XP_054184393.1  DNA polymerase kappa isoform X3

  11. XM_054328420.1 → XP_054184395.1  DNA polymerase kappa isoform X5

RNA

  1. XR_008485566.1 RNA Sequence

  2. XR_008485567.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    75992960..76091061
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001387112.1: Suppressed sequence

    Description
    NM_001387112.1: This RefSeq was removed because currently there is support for the transcript but not for the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UBT6.1 GenPept UniProtKB/Swiss-Prot:Q9UBT6

Gene LinkOut

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