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    POLK DNA polymerase kappa [ Homo sapiens (human) ]

    Gene ID: 51426, updated on 21-May-2017
    Official Symbol
    POLKprovided by HGNC
    Official Full Name
    DNA polymerase kappaprovided by HGNC
    Primary source
    HGNC:HGNC:9183
    See related
    Ensembl:ENSG00000122008 MIM:605650; Vega:OTTHUMG00000102107
    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]
    Orthologs
    Location:
    5q13.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 5 NC_000005.10 (75511832..75602576)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (74807657..74895646)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene 3-hydroxy-3-methylglutaryl-CoA reductase Neighboring gene collagen type IV alpha 3 binding protein Neighboring gene ribosomal protein S26 pseudogene 26 Neighboring gene RNA, U7 small nuclear 175 pseudogene Neighboring gene ankyrin repeat and death domain containing 1B Neighboring gene uncharacterized LOC107986424 Neighboring gene POC5 centriolar protein Neighboring gene RNA, U6 small nuclear 680, pseudogene

    • Project title: 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Aryl Hydrocarbon Receptor Pathway, organism-specific biosystem (from WikiPathways)
      Aryl Hydrocarbon Receptor Pathway, organism-specific biosystemThe aryl hydrocarbon receptor (AhR) is a transcription factor (part of the group of nuclear receptors) that responds to the presence of aromatic hydrocarbons. It regulates genes involved xenobiotic m...
    • DNA Damage Bypass, organism-specific biosystem (from REACTOME)
      DNA Damage Bypass, organism-specific biosystemIn addition to various processes for removing lesions from the DNA, cells have developed specific mechanisms for tolerating unrepaired damage during the replication of the genome. These mechanisms ar...
    • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
      DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
    • DNA Repair, organism-specific biosystem (from REACTOME)
      DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
    • Dual Incision in GG-NER, organism-specific biosystem (from REACTOME)
      Dual Incision in GG-NER, organism-specific biosystemDouble incision at the damaged DNA strand excises the oligonucleotide that contains the lesion from the open bubble. The excised oligonucleotide is ~27-30 bases long. Incision 5' to the damage site, ...
    • Dual incision in TC-NER, organism-specific biosystem (from REACTOME)
      Dual incision in TC-NER, organism-specific biosystemIn transcription-coupled nucleotide excision repair (TC-NER), similar to global genome nucleotide excision repair (GG-NER), the oligonucleotide that contains the lesion is excised from the open bubbl...
    • Fanconi anemia pathway, organism-specific biosystem (from KEGG)
      Fanconi anemia pathway, organism-specific biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
    • Fanconi anemia pathway, conserved biosystem (from KEGG)
      Fanconi anemia pathway, conserved biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
    • Gap-filling DNA repair synthesis and ligation in GG-NER, organism-specific biosystem (from REACTOME)
      Gap-filling DNA repair synthesis and ligation in GG-NER, organism-specific biosystemGlobal genome nucleotide excision repair (GG-NER) is completed by DNA repair synthesis that fills the single stranded gap created after dual incision of the damaged DNA strand and excision of the ~27...
    • Gap-filling DNA repair synthesis and ligation in TC-NER, organism-specific biosystem (from REACTOME)
      Gap-filling DNA repair synthesis and ligation in TC-NER, organism-specific biosystemIn transcription-coupled nucleotide excision repair (TC-NER), similar to global genome nucleotide excision repair (GG-NER), DNA polymerases delta or epsilon, or the Y family DNA polymerase kappa, fil...
    • Global Genome Nucleotide Excision Repair (GG-NER), organism-specific biosystem (from REACTOME)
      Global Genome Nucleotide Excision Repair (GG-NER), organism-specific biosystemThe DNA damage in GG-NER is recognized by the joint action of two protein complexes. The first complex is composed of XPC, RAD23A or RAD23B and CETN2. The second complex, known as the UV-DDB complex,...
    • HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
      HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) of replication-independent DNA double strand breaks (DSBs) via homologous recombination repair (HRR) or single strand annealing (SSA) requires the activation of ATM fol...
    • HDR through Homologous Recombination (HRR), organism-specific biosystem (from REACTOME)
      HDR through Homologous Recombination (HRR), organism-specific biosystemHomology directed repair (HDR) through homologous recombination is known as homologous recombination repair (HRR). HRR occurs after extensive resection of DNA double strand break (DSB) ends, which cr...
    • Homology Directed Repair, organism-specific biosystem (from REACTOME)
      Homology Directed Repair, organism-specific biosystemHomology directed repair (HDR) of DNA double strand breaks (DSBs) requires resection of DNA DSB ends. Resection creates 3'-ssDNA overhangs which then anneal with a homologous DNA sequence. This homol...
    • Nucleotide Excision Repair, organism-specific biosystem (from REACTOME)
      Nucleotide Excision Repair, organism-specific biosystemNucleotide excision repair (NER) was first described in the model organism E. coli in the early 1960s as a process whereby bulky base damage is enzymatically removed from DNA, facilitating the recove...
    • Termination of translesion DNA synthesis, organism-specific biosystem (from REACTOME)
      Termination of translesion DNA synthesis, organism-specific biosystemThe initiation and extent of translesion DNA synthesis (TLS) has to be tightly controlled in order to limit TLS-induced mutagenesis, caused by the low fidelity of TLS-participating DNA polymerases. S...
    • Transcription-Coupled Nucleotide Excision Repair (TC-NER), organism-specific biosystem (from REACTOME)
      Transcription-Coupled Nucleotide Excision Repair (TC-NER), organism-specific biosystemDNA damage in transcribed strands of active genes is repaired through a specialized nucleotide excision repair (NER) pathway known as transcription-coupled nucleotide excision repair (TC-NER). TC-NER...
    • Translesion synthesis by POLK, organism-specific biosystem (from REACTOME)
      Translesion synthesis by POLK, organism-specific biosystemDNA polymerase kappa (POLK) is a Y family DNA polymerase that is most efficient in translesion DNA synthesis (TLS) across oxidation derivatives of DNA bases, such as thymine glycol (Tg) and 8-oxoguan...
    • Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template, organism-specific biosystem (from REACTOME)
      Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template, organism-specific biosystemUbiquitous environmental and endogenous genotoxic agents cause DNA lesions that can interfere with normal DNA metabolism including DNA replication, eventually resulting in mutations that lead to carc...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA-directed DNA polymerase activity IEA
    Inferred from Electronic Annotation
    more info
     
    damaged DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    DNA repair TAS
    Traceable Author Statement
    more info
    PubMed 
    DNA replication IEA
    Inferred from Electronic Annotation
    more info
     
    error-prone translesion synthesis TAS
    Traceable Author Statement
    more info
     
    nucleotide-excision repair, DNA gap filling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nucleotide-excision repair, DNA gap filling TAS
    Traceable Author Statement
    more info
     
    nucleotide-excision repair, DNA incision TAS
    Traceable Author Statement
    more info
     
    nucleotide-excision repair, DNA incision, 5'-to lesion TAS
    Traceable Author Statement
    more info
     
    transcription-coupled nucleotide-excision repair TAS
    Traceable Author Statement
    more info
     
    translesion synthesis TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    nuclear body IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    DNA polymerase kappa
    Names
    polymerase (DNA directed) kappa
    NP_057302.1
    XP_005248591.1
    XP_006714715.1
    XP_011541765.1
    XP_011541766.1
    XP_011541769.1
    XP_016865047.1
    XP_016865048.1
    XP_016865049.1
    XP_016865050.1
    XP_016865051.1
    XP_016865052.1
    XP_016865053.1

    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_051590.1 RefSeqGene

      Range
      5001..99071
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start site compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AC010245, AC026424, AC116341
    2. NM_001345922.1NP_001332851.1  DNA polymerase kappa isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and initiates translation at a downstream start site compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AC010245, AC026424, AC116341
      UniProtKB/Swiss-Prot
      Q9UBT6
    3. NM_016218.3NP_057302.1  DNA polymerase kappa isoform 1

      See identical proteins and their annotated locations for NP_057302.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC010245, AC116341, AF163570
      Consensus CDS
      CCDS4030.1
      UniProtKB/Swiss-Prot
      Q9UBT6
      UniProtKB/TrEMBL
      A0A024RAP4
      Related
      ENSP00000241436.4, OTTHUMP00000128303, ENST00000241436.8, OTTHUMT00000219945
      Conserved Domains (3) summary
      smart00734
      Location:621647
      ZnF_Rad18; Rad18-like CCHC zinc finger
      cd03586
      Location:104516
      PolY_Pol_IV_kappa; DNA Polymerase IV/Kappa
      PRK02406
      Location:108522
      PRK02406; DNA polymerase IV; Validated

    RNA

    1. NR_144315.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC010245, AC026424, AC116341

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

      Range
      75511832..75602576
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005248534.4XP_005248591.1  DNA polymerase kappa isoform X1

      See identical proteins and their annotated locations for XP_005248591.1

      Conserved Domains (3) summary
      smart00734
      Location:635661
      ZnF_Rad18; Rad18-like CCHC zinc finger
      cd03586
      Location:104530
      PolY_Pol_IV_kappa; DNA Polymerase IV/Kappa
      PRK02406
      Location:108536
      PRK02406; DNA polymerase IV; Validated
    2. XM_017009561.1XP_016865050.1  DNA polymerase kappa isoform X3

    3. XM_017009562.1XP_016865051.1  DNA polymerase kappa isoform X4

    4. XM_017009564.1XP_016865053.1  DNA polymerase kappa isoform X6

      Conserved Domains (3) summary
      smart00734
      Location:531557
      ZnF_Rad18; Rad18-like CCHC zinc finger
      cd03586
      Location:14426
      PolY_Pol_IV_kappa; DNA Polymerase IV/Kappa
      PRK02406
      Location:18432
      PRK02406; DNA polymerase IV; Validated
    5. XM_011543464.2XP_011541766.1  DNA polymerase kappa isoform X1

      See identical proteins and their annotated locations for XP_011541766.1

      Conserved Domains (3) summary
      smart00734
      Location:635661
      ZnF_Rad18; Rad18-like CCHC zinc finger
      cd03586
      Location:104530
      PolY_Pol_IV_kappa; DNA Polymerase IV/Kappa
      PRK02406
      Location:108536
      PRK02406; DNA polymerase IV; Validated
    6. XM_011543467.2XP_011541769.1  DNA polymerase kappa isoform X5

      Conserved Domains (3) summary
      smart00734
      Location:545571
      ZnF_Rad18; Rad18-like CCHC zinc finger
      cd03586
      Location:14440
      PolY_Pol_IV_kappa; DNA Polymerase IV/Kappa
      PRK02406
      Location:18446
      PRK02406; DNA polymerase IV; Validated
    7. XM_017009563.1XP_016865052.1  DNA polymerase kappa isoform X6

      UniProtKB/Swiss-Prot
      Q9UBT6
      Conserved Domains (3) summary
      smart00734
      Location:531557
      ZnF_Rad18; Rad18-like CCHC zinc finger
      cd03586
      Location:14426
      PolY_Pol_IV_kappa; DNA Polymerase IV/Kappa
      PRK02406
      Location:18432
      PRK02406; DNA polymerase IV; Validated
    8. XM_017009559.1XP_016865048.1  DNA polymerase kappa isoform X2

      UniProtKB/Swiss-Prot
      Q9UBT6
      UniProtKB/TrEMBL
      A0A024RAP4
      Conserved Domains (3) summary
      smart00734
      Location:621647
      ZnF_Rad18; Rad18-like CCHC zinc finger
      cd03586
      Location:104516
      PolY_Pol_IV_kappa; DNA Polymerase IV/Kappa
      PRK02406
      Location:108522
      PRK02406; DNA polymerase IV; Validated
    9. XM_011543463.2XP_011541765.1  DNA polymerase kappa isoform X1

      See identical proteins and their annotated locations for XP_011541765.1

      Conserved Domains (3) summary
      smart00734
      Location:635661
      ZnF_Rad18; Rad18-like CCHC zinc finger
      cd03586
      Location:104530
      PolY_Pol_IV_kappa; DNA Polymerase IV/Kappa
      PRK02406
      Location:108536
      PRK02406; DNA polymerase IV; Validated
    10. XM_017009560.1XP_016865049.1  DNA polymerase kappa isoform X2

      UniProtKB/Swiss-Prot
      Q9UBT6
      UniProtKB/TrEMBL
      A0A024RAP4
      Conserved Domains (3) summary
      smart00734
      Location:621647
      ZnF_Rad18; Rad18-like CCHC zinc finger
      cd03586
      Location:104516
      PolY_Pol_IV_kappa; DNA Polymerase IV/Kappa
      PRK02406
      Location:108522
      PRK02406; DNA polymerase IV; Validated
    11. XM_017009558.1XP_016865047.1  DNA polymerase kappa isoform X1

      Conserved Domains (3) summary
      smart00734
      Location:635661
      ZnF_Rad18; Rad18-like CCHC zinc finger
      cd03586
      Location:104530
      PolY_Pol_IV_kappa; DNA Polymerase IV/Kappa
      PRK02406
      Location:108536
      PRK02406; DNA polymerase IV; Validated
    12. XM_006714652.3XP_006714715.1  DNA polymerase kappa isoform X7

      Conserved Domains (2) summary
      smart00734
      Location:206232
      ZnF_Rad18; Rad18-like CCHC zinc finger
      cl12025
      Location:1101
      PolY; Y-family of DNA polymerases

    RNA

    1. XR_001742107.1 RNA Sequence

    2. XR_001742105.1 RNA Sequence

    3. XR_001742106.1 RNA Sequence

    4. XR_241784.2 RNA Sequence

    5. XR_948273.2 RNA Sequence

    6. XR_001742108.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      74240383..74328367
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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