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    POLD1 DNA polymerase delta 1, catalytic subunit [ Homo sapiens (human) ]

    Gene ID: 5424, updated on 6-Jan-2019

    Summary

    Official Symbol
    POLD1provided by HGNC
    Official Full Name
    DNA polymerase delta 1, catalytic subunitprovided by HGNC
    Primary source
    HGNC:HGNC:9175
    See related
    Ensembl:ENSG00000062822 MIM:174761
    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
    CDC2; MDPL; POLD; CRCS10
    Summary
    This gene encodes the 125-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Mar 2012]
    Expression
    Broad expression in bone marrow (RPKM 7.5), testis (RPKM 4.7) and 24 other tissues See more
    Orthologs

    Genomic context

    See POLD1 in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (50384291..50418018)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (50887531..50921275)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372437 Neighboring gene napsin A aspartic peptidase Neighboring gene nuclear receptor subfamily 1 group H member 2 Neighboring gene Spi-B transcription factor Neighboring gene myosin binding protein C, fast type

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Colorectal cancer 10
    MedGen: C2675481 OMIM: 612591 GeneReviews: Not available
    Compare labs
    Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
    MedGen: C3715192 OMIM: 615381 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Base Excision Repair, organism-specific biosystem (from REACTOME)
      Base Excision Repair, organism-specific biosystemOf the three major pathways involved in the repair of nucleotide damage in DNA, base excision repair (BER) involves the greatest number of individual enzymatic activities. This is the consequence of ...
    • Base excision repair, organism-specific biosystem (from KEGG)
      Base excision repair, organism-specific biosystemBase excision repair (BER) is the predominant DNA damage repair pathway for the processing of small base lesions, derived from oxidation and alkylation damages. BER is normally defined as DNA repair ...
    • Base excision repair, conserved biosystem (from KEGG)
      Base excision repair, conserved biosystemBase excision repair (BER) is the predominant DNA damage repair pathway for the processing of small base lesions, derived from oxidation and alkylation damages. BER is normally defined as DNA repair ...
    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
      Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
    • Chromosome Maintenance, organism-specific biosystem (from REACTOME)
      Chromosome Maintenance, organism-specific biosystemChromosome maintenance is critical for stable chromosome function in mammalian and other eukaryotic cells. Aspects of telomere maintenance and nucleosome assembly are covered here.
    • Cytosolic iron-sulfur cluster assembly, organism-specific biosystem (from REACTOME)
      Cytosolic iron-sulfur cluster assembly, organism-specific biosystemIron-sulfur clusters containing 4 atoms of iron and 4 atoms of sulfur (4Fe-4S clusters) are assembled in the cytosol on a heterotetrameric scaffold composed of NUBP2 and NUBP1 subunits (reviewed in L...
    • 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...
    • DNA Replication, organism-specific biosystem (from REACTOME)
      DNA Replication, organism-specific biosystemStudies in the past decade have suggested that the basic mechanism of DNA replication initiation is conserved in all kingdoms of life. Initiation in unicellular eukaryotes, in particular Saccharomyce...
    • DNA Replication, organism-specific biosystem (from WikiPathways)
      DNA Replication, organism-specific biosystemStudies in the past decade have suggested that the basic mechanism of DNA replication initiation is conserved in all kingdoms of life. Initiation in unicellular eukaryotes, in particular Saccharomyce...
    • DNA polymerase delta complex, organism-specific biosystem (from KEGG)
      DNA polymerase delta complex, organism-specific biosystemStructural complex; Genetic information processing; DNA polymerase
    • DNA polymerase delta complex, conserved biosystem (from KEGG)
      DNA polymerase delta complex, conserved biosystemStructural complex; Genetic information processing; DNA polymerase
    • DNA replication, organism-specific biosystem (from KEGG)
      DNA replication, organism-specific biosystemA complex network of interacting proteins and enzymes is required for DNA replication. Generally, DNA replication follows a multistep enzymatic pathway. At the DNA replication fork, a DNA helicase (D...
    • DNA replication, conserved biosystem (from KEGG)
      DNA replication, conserved biosystemA complex network of interacting proteins and enzymes is required for DNA replication. Generally, DNA replication follows a multistep enzymatic pathway. At the DNA replication fork, a DNA helicase (D...
    • DNA strand elongation, organism-specific biosystem (from REACTOME)
      DNA strand elongation, organism-specific biosystemAccurate and efficient genome duplication requires coordinated processes to replicate two template strands at eucaryotic replication forks. Knowledge of the fundamental reactions involved in replicat...
    • 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...
    • Extension of Telomeres, organism-specific biosystem (from REACTOME)
      Extension of Telomeres, organism-specific biosystemTelomerase acts as reverse transcriptase in the elongation of telomeres (Smogorzewska and de Lange 2004).
    • 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...
    • HTLV-I infection, organism-specific biosystem (from KEGG)
      HTLV-I infection, organism-specific biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • HTLV-I infection, conserved biosystem (from KEGG)
      HTLV-I infection, conserved biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • Homologous recombination, organism-specific biosystem (from KEGG)
      Homologous recombination, organism-specific biosystemHomologous recombination (HR) is essential for the accurate repair of DNA double-strand breaks (DSBs), potentially lethal lesions. HR takes place in the late S-G2 phase of the cell cycle and involves...
    • Homologous recombination, organism-specific biosystem (from WikiPathways)
      Homologous recombination, organism-specific biosystemHomologous recombination, also known as general recombination, is a type of genetic recombination in which nucleotide sequences are exchanged between two similar or identical strands of DNA. Source:...
    • Homologous recombination, conserved biosystem (from KEGG)
      Homologous recombination, conserved biosystemHomologous recombination (HR) is essential for the accurate repair of DNA double-strand breaks (DSBs), potentially lethal lesions. HR takes place in the late S-G2 phase of the cell cycle and involves...
    • 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...
    • Lagging Strand Synthesis, organism-specific biosystem (from REACTOME)
      Lagging Strand Synthesis, organism-specific biosystemDue to the antiparallel nature of DNA, DNA polymerization is unidirectional, and one strand is synthesized discontinuously. This strand is called the lagging strand. Although the polymerase switching...
    • Leading Strand Synthesis, organism-specific biosystem (from REACTOME)
      Leading Strand Synthesis, organism-specific biosystemThe processive complex is responsible for synthesizing at least 5-10 kb of DNA in a continuous manner during leading strand synthesis. The incorporation of nucleotides by pol delta is quite accurate....
    • Metabolic pathways, organism-specific biosystem (from KEGG)
      Metabolic pathways, organism-specific biosystem
      Metabolic pathways
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Mismatch Repair, organism-specific biosystem (from REACTOME)
      Mismatch Repair, organism-specific biosystemThe mismatch repair (MMR) system corrects single base mismatches and small insertion and deletion loops (IDLs) of unpaired bases. MMR is primarily associated with DNA replication and is highly conser...
    • Mismatch repair, organism-specific biosystem (from KEGG)
      Mismatch repair, organism-specific biosystemDNA mismatch repair (MMR) is a highly conserved biological pathway that plays a key role in maintaining genomic stability. MMR corrects DNA mismatches generated during DNA replication, thereby preven...
    • Mismatch repair, organism-specific biosystem (from WikiPathways)
      Mismatch repair, organism-specific biosystemDNA mismatch repair is a system for recognizing and repairing erroneous insertion, deletion and mis-incorporation of bases that can arise during DNA replication and recombination, as well as repairin...
    • Mismatch repair, conserved biosystem (from KEGG)
      Mismatch repair, conserved biosystemDNA mismatch repair (MMR) is a highly conserved biological pathway that plays a key role in maintaining genomic stability. MMR corrects DNA mismatches generated during DNA replication, thereby preven...
    • Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta), organism-specific biosystem (from REACTOME)
      Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta), organism-specific biosystemMSH2:MSH3 (MutSbeta) binds unpaired loops of 2 or more nucleotides (Palombo et al. 1996, Genschel et al. 1998). Human cells contain about 6-fold more MSH2:MSH6 than MSH2:MSH3 (MutSbeta) and an imbala...
    • Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha), organism-specific biosystem (from REACTOME)
      Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha), organism-specific biosystemMSH2:MSH6 (MutSalpha) binds single base mismatches and unpaired loops of 1-2 nucleotides (reviewed in Edelbrock et al. 2013). Human cells contain about 6-fold more MSH2:MSH6 than MSH2:MSH3 (MutSbeta)...
    • 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...
    • Nucleotide Metabolism, organism-specific biosystem (from WikiPathways)
      Nucleotide Metabolism, organism-specific biosystemThe pathway outlined above focuses on purine metabolism and in particular that of guanine metabolism.
    • Nucleotide excision repair, organism-specific biosystem (from KEGG)
      Nucleotide excision repair, organism-specific biosystemNucleotide excision repair (NER) is a mechanism to recognize and repair bulky DNA damage caused by compounds, environmental carcinogens, and exposure to UV-light. In humans hereditary defects in the ...
    • Nucleotide excision repair, conserved biosystem (from KEGG)
      Nucleotide excision repair, conserved biosystemNucleotide excision repair (NER) is a mechanism to recognize and repair bulky DNA damage caused by compounds, environmental carcinogens, and exposure to UV-light. In humans hereditary defects in the ...
    • PCNA-Dependent Long Patch Base Excision Repair, organism-specific biosystem (from REACTOME)
      PCNA-Dependent Long Patch Base Excision Repair, organism-specific biosystemLong-patch base excision repair (BER) can proceed through PCNA-dependent DNA strand displacement synthesis by replicative DNA polymerases - DNA polymerase delta complex (POLD) or DNA polymerase epsil...
    • Polymerase switching, organism-specific biosystem (from REACTOME)
      Polymerase switching, organism-specific biosystemAfter the primers are synthesized, Replication Factor C binds to the 3'-end of the initiator DNA to trigger polymerase switching. The non-processive nature of pol alpha catalytic activity and the tig...
    • Polymerase switching on the C-strand of the telomere, organism-specific biosystem (from REACTOME)
      Polymerase switching on the C-strand of the telomere, organism-specific biosystemAfter the primers are synthesized on the G-Rich strand, Replication Factor C binds to the 3'-end of the initiator DNA to trigger polymerase switching. The non-processive nature of pol alpha catalytic...
    • Processive synthesis on the C-strand of the telomere, organism-specific biosystem (from REACTOME)
      Processive synthesis on the C-strand of the telomere, organism-specific biosystemOnce polymerase switching from pol alpha to pol delta is complete the processive synthesis of a short run of DNA called an Okazaki fragment begins. DNA synthesis is discontinuous and as the extending...
    • Processive synthesis on the lagging strand, organism-specific biosystem (from REACTOME)
      Processive synthesis on the lagging strand, organism-specific biosystemThe key event that allows the processive synthesis on the lagging strand, is polymerase switching from pol alpha to pol delta, as on the leading strand. However, the processive synthesis on the laggi...
    • Purine metabolism, organism-specific biosystem (from KEGG)
      Purine metabolism, organism-specific biosystem
      Purine metabolism
    • Purine metabolism, conserved biosystem (from KEGG)
      Purine metabolism, conserved biosystem
      Purine metabolism
    • Pyrimidine metabolism, organism-specific biosystem (from KEGG)
      Pyrimidine metabolism, organism-specific biosystem
      Pyrimidine metabolism
    • Pyrimidine metabolism, conserved biosystem (from KEGG)
      Pyrimidine metabolism, conserved biosystem
      Pyrimidine metabolism
    • Recognition of DNA damage by PCNA-containing replication complex, organism-specific biosystem (from REACTOME)
      Recognition of DNA damage by PCNA-containing replication complex, organism-specific biosystemDamaged double strand DNA (dsDNA) cannot be successfully used as a template by replicative DNA polymerase delta (POLD) and epsilon (POLE) complexes (Hoege et al. 2002). When the replication complex c...
    • Removal of the Flap Intermediate, organism-specific biosystem (from REACTOME)
      Removal of the Flap Intermediate, organism-specific biosystemTwo endonucleases, Dna2 and flap endonuclease 1 (FEN-1), are responsible for resolving the nascent flap structure (Tsurimoto and Stillman 1991). The Dna2 endonuclease/helicase in yeast is a monomer o...
    • Removal of the Flap Intermediate from the C-strand, organism-specific biosystem (from REACTOME)
      Removal of the Flap Intermediate from the C-strand, organism-specific biosystemTwo endonucleases, Dna2 and flap endonuclease 1 (FEN-1), are responsible for resolving the nascent flap structure (Tsurimoto and Stillman 1991). The Dna2 endonuclease/helicase in yeast is a monomer o...
    • Resolution of AP sites via the multiple-nucleotide patch replacement pathway, organism-specific biosystem (from REACTOME)
      Resolution of AP sites via the multiple-nucleotide patch replacement pathway, organism-specific biosystemWhile the single nucleotide replacement pathway appears to facilitate the repair of most damaged bases, an alternative BER pathway is evoked when the structure of the 5'-terminal sugar phosphate is s...
    • Resolution of Abasic Sites (AP sites), organism-specific biosystem (from REACTOME)
      Resolution of Abasic Sites (AP sites), organism-specific biosystemResolution of AP sites can occur through the single nucleotide replacement pathway or through the multiple nucleotide patch replacement pathway, also known as the long-patch base excision repair (BER...
    • S Phase, organism-specific biosystem (from REACTOME)
      S Phase, organism-specific biosystemDNA synthesis occurs in the S phase, or the synthesis phase, of the cell cycle. The cell duplicates its hereditary material, and two copies of the chromosome are formed. As DNA replication continues,...
    • Synthesis of DNA, organism-specific biosystem (from REACTOME)
      Synthesis of DNA, organism-specific biosystemThe actual synthesis of DNA occurs in the S phase of the cell cycle. This includes the initiation of DNA replication, when the first nucleotide of the new strand is laid down during the synthesis of ...
    • Telomere C-strand (Lagging Strand) Synthesis, organism-specific biosystem (from REACTOME)
      Telomere C-strand (Lagging Strand) Synthesis, organism-specific biosystemDue to the antiparallel nature of DNA, DNA polymerization is unidirectional, and one strand is synthesized discontinuously. This strand is called the lagging strand. Although the polymerase switching...
    • Telomere Maintenance, organism-specific biosystem (from REACTOME)
      Telomere Maintenance, organism-specific biosystemTelomeres are protein-DNA complexes at the ends of linear chromosomes that are important for genome stability. Telomeric DNA in humans, as in many eukaryotic organisms, consists of tandem repeats (B...
    • 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 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...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    3'-5'-exodeoxyribonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    4 iron, 4 sulfur cluster binding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA-directed DNA polymerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    DNA-directed DNA polymerase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    DNA-directed DNA polymerase activity TAS
    Traceable Author Statement
    more info
     
    chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    damaged DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA damage response, detection of DNA damage TAS
    Traceable Author Statement
    more info
     
    DNA repair TAS
    Traceable Author Statement
    more info
    PubMed 
    DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    DNA replication proofreading IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    DNA synthesis involved in DNA repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA synthesis involved in DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    DNA-dependent DNA replication IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    base-excision repair, gap-filling IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    base-excision repair, gap-filling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to UV IDA
    Inferred from Direct Assay
    more info
    PubMed 
    fatty acid homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nucleotide-excision repair, DNA gap filling IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleotide-excision repair, DNA gap filling IC
    Inferred by Curator
    more info
    PubMed 
    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
     
    response to UV TAS
    Traceable Author Statement
    more info
    PubMed 
    telomere maintenance TAS
    Traceable Author Statement
    more info
     
    telomere maintenance via semi-conservative replication 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
    aggresome IDA
    Inferred from Direct Assay
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    delta DNA polymerase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    membrane HDA PubMed 
    colocalizes_with nuclear chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleotide-excision repair complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    DNA polymerase delta catalytic subunit
    Names
    CDC2 homolog
    DNA polymerase subunit delta p125
    polymerase (DNA directed), delta 1, catalytic subunit 125kDa
    polymerase (DNA) delta 1, catalytic subunit
    NP_001243778.1
    NP_001295561.1
    NP_002682.2
    XP_005259065.1
    XP_011525340.1
    XP_016882370.1
    XP_016882371.1

    NCBI Reference Sequences (RefSeq)

    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_033800.1 RefSeqGene

      Range
      5001..38696
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_785

    mRNA and Protein(s)

    1. NM_001256849.1NP_001243778.1  DNA polymerase delta catalytic subunit isoform 1

      See identical proteins and their annotated locations for NP_001243778.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) contains an alternate exon in the 5' UTR and uses an alternate splice site in the 3' coding region, compared to variant 4. The encoded isoform (1) is shorter than isoform 2.
      Source sequence(s)
      AA236879, BC008800, CD101690
      Consensus CDS
      CCDS12795.1
      UniProtKB/Swiss-Prot
      P28340
      UniProtKB/TrEMBL
      A0A024R4F4
      Related
      ENSP00000473052.1, ENST00000599857.6
      Conserved Domains (4) summary
      cd05777
      Location:304533
      DNA_polB_delta_exo; DEDDy 3'-5' exonuclease domain of eukaryotic DNA polymerase delta, a family-B DNA polymerase
      cd05533
      Location:579974
      POLBc_delta; DNA polymerase type-B delta subfamily catalytic domain. Three DNA-dependent DNA polymerases type B (alpha, delta, and epsilon) have been identified as essential for nuclear DNA replication in eukaryotes. Presently, no direct data is available regarding ...
      PTZ00166
      Location:811100
      PTZ00166; DNA polymerase delta catalytic subunit; Provisional
      pfam14260
      Location:10121082
      zf-C4pol; C4-type zinc-finger of DNA polymerase delta
    2. NM_001308632.1NP_001295561.1  DNA polymerase delta catalytic subunit isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) encodes the longer isoform (2).
      Source sequence(s)
      AC008655, AC020909, DQ234348
      Consensus CDS
      CCDS82381.1
      UniProtKB/TrEMBL
      M0R2B7, Q308M6
      Related
      ENSP00000472445.1, ENST00000595904.6
      Conserved Domains (4) summary
      cd05777
      Location:304533
      DNA_polB_delta_exo; DEDDy 3'-5' exonuclease domain of eukaryotic DNA polymerase delta, a family-B DNA polymerase
      cd05533
      Location:5791000
      POLBc_delta; DNA polymerase type-B delta subfamily catalytic domain. Three DNA-dependent DNA polymerases type B (alpha, delta, and epsilon) have been identified as essential for nuclear DNA replication in eukaryotes. Presently, no direct data is available regarding ...
      PTZ00166
      Location:811126
      PTZ00166; DNA polymerase delta catalytic subunit; Provisional
      pfam14260
      Location:10381108
      zf-C4pol; C4-type zinc-finger of DNA polymerase delta
    3. NM_002691.3NP_002682.2  DNA polymerase delta catalytic subunit isoform 1

      See identical proteins and their annotated locations for NP_002682.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR and uses an alternate splice site in the 3' coding region, compared to variant 4. The encoded isoform (1) is shorter than isoform 2.
      Source sequence(s)
      AA236879, AB209560, CD101690, M81735
      Consensus CDS
      CCDS12795.1
      UniProtKB/Swiss-Prot
      P28340
      UniProtKB/TrEMBL
      A0A024R4F4, Q59FA0
      Related
      ENSP00000406046.1, ENST00000440232.6
      Conserved Domains (4) summary
      cd05777
      Location:304533
      DNA_polB_delta_exo; DEDDy 3'-5' exonuclease domain of eukaryotic DNA polymerase delta, a family-B DNA polymerase
      cd05533
      Location:579974
      POLBc_delta; DNA polymerase type-B delta subfamily catalytic domain. Three DNA-dependent DNA polymerases type B (alpha, delta, and epsilon) have been identified as essential for nuclear DNA replication in eukaryotes. Presently, no direct data is available regarding ...
      PTZ00166
      Location:811100
      PTZ00166; DNA polymerase delta catalytic subunit; Provisional
      pfam14260
      Location:10121082
      zf-C4pol; C4-type zinc-finger of DNA polymerase delta

    RNA

    1. NR_046402.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate first exon and lacks an internal exon in the 3' region, compared to variant 4. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 4, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA236879, AB209560, CD101690
      Related
      ENST00000600859.5

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

      Range
      50384291..50418018
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005259008.4XP_005259065.1  DNA polymerase delta catalytic subunit isoform X2

      Conserved Domains (4) summary
      cd05777
      Location:304533
      DNA_polB_delta_exo; DEDDy 3'-5' exonuclease domain of eukaryotic DNA polymerase delta, a family-B DNA polymerase
      cd05533
      Location:579950
      POLBc_delta; DNA polymerase type-B delta subfamily catalytic domain. Three DNA-dependent DNA polymerases type B (alpha, delta, and epsilon) have been identified as essential for nuclear DNA replication in eukaryotes. Presently, no direct data is available regarding ...
      PTZ00166
      Location:811076
      PTZ00166; DNA polymerase delta catalytic subunit; Provisional
      pfam14260
      Location:9881058
      zf-C4pol; C4-type zinc-finger of DNA polymerase delta
    2. XM_017026882.2XP_016882371.1  DNA polymerase delta catalytic subunit isoform X2

      Conserved Domains (4) summary
      cd05777
      Location:304533
      DNA_polB_delta_exo; DEDDy 3'-5' exonuclease domain of eukaryotic DNA polymerase delta, a family-B DNA polymerase
      cd05533
      Location:579950
      POLBc_delta; DNA polymerase type-B delta subfamily catalytic domain. Three DNA-dependent DNA polymerases type B (alpha, delta, and epsilon) have been identified as essential for nuclear DNA replication in eukaryotes. Presently, no direct data is available regarding ...
      PTZ00166
      Location:811076
      PTZ00166; DNA polymerase delta catalytic subunit; Provisional
      pfam14260
      Location:9881058
      zf-C4pol; C4-type zinc-finger of DNA polymerase delta
    3. XM_017026881.1XP_016882370.1  DNA polymerase delta catalytic subunit isoform X1

      UniProtKB/Swiss-Prot
      P28340
      UniProtKB/TrEMBL
      A0A024R4F4
      Conserved Domains (4) summary
      cd05777
      Location:304533
      DNA_polB_delta_exo; DEDDy 3'-5' exonuclease domain of eukaryotic DNA polymerase delta, a family-B DNA polymerase
      cd05533
      Location:579974
      POLBc_delta; DNA polymerase type-B delta subfamily catalytic domain. Three DNA-dependent DNA polymerases type B (alpha, delta, and epsilon) have been identified as essential for nuclear DNA replication in eukaryotes. Presently, no direct data is available regarding ...
      PTZ00166
      Location:811100
      PTZ00166; DNA polymerase delta catalytic subunit; Provisional
      pfam14260
      Location:10121082
      zf-C4pol; C4-type zinc-finger of DNA polymerase delta
    4. XM_011527038.1XP_011525340.1  DNA polymerase delta catalytic subunit isoform X1

      See identical proteins and their annotated locations for XP_011525340.1

      UniProtKB/Swiss-Prot
      P28340
      UniProtKB/TrEMBL
      A0A024R4F4
      Conserved Domains (4) summary
      cd05777
      Location:304533
      DNA_polB_delta_exo; DEDDy 3'-5' exonuclease domain of eukaryotic DNA polymerase delta, a family-B DNA polymerase
      cd05533
      Location:579974
      POLBc_delta; DNA polymerase type-B delta subfamily catalytic domain. Three DNA-dependent DNA polymerases type B (alpha, delta, and epsilon) have been identified as essential for nuclear DNA replication in eukaryotes. Presently, no direct data is available regarding ...
      PTZ00166
      Location:811100
      PTZ00166; DNA polymerase delta catalytic subunit; Provisional
      pfam14260
      Location:10121082
      zf-C4pol; C4-type zinc-finger of DNA polymerase delta

    RNA

    1. XR_935835.2 RNA Sequence

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