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POLD1 Gene

protein-coding   GIFtS: 69
GCID: GC19P050889

Polymerase (DNA Directed), Delta 1, Catalytic Subunit

(Previous names: polymerase (DNA directed), delta 1, catalytic subunit (125kD))
(Previous symbol: POLD)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Polymerase (DNA Directed), Delta 1, Catalytic Subunit1 2     CDC2 Homolog (S. Cerevisiae)1
POLD1 2 3     Polymerase (DNA Directed), Delta 1, Catalytic Subunit (125kD)1
DNA Polymerase Subunit Delta P1252 3     CDC22
EC 2.7.7.73 8     CDC2 Homolog2
CRCS102 5     DNA Polymerase Delta Catalytic Subunit2
MDPL2 5     Polymerase (DNA Directed), Delta 1, Catalytic Subunit 125kDa2

External Ids:    HGNC: 91751   Entrez Gene: 54242   Ensembl: ENSG000000628227   OMIM: 1747615   UniProtKB: P283403   

Export aliases for POLD1 gene to outside databases

Previous GC identifers: GC19P051516 GC19P051248 GC19P055563 GC19P055580 GC19P055581 GC19P055582 GC19P047225


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for POLD1 Gene:
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)

GeneCards Summary for POLD1 Gene:
POLD1 (polymerase (DNA directed), delta 1, catalytic subunit) is a protein-coding gene. Diseases associated with POLD1 include mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, and colorectal cancer 10. GO annotations related to this gene include 4 iron, 4 sulfur cluster binding and chromatin binding.

UniProtKB/Swiss-Prot: DPOD1_HUMAN, P28340
Function: Possesses two enzymatic activities: DNA synthesis (polymerase) and an exonucleolytic activity that
degrades single stranded DNA in the 3'- to 5'-direction. Required with its accessory proteins (proliferating cell
nuclear antigen (PCNA) and replication factor C (RFC) or activator 1) for leading strand synthesis. Also involved
in completing Okazaki fragments initiated by the DNA polymerase alpha/primase complex

summary for POLD1 Gene:
Cdks (cyclin-dependent kinases) are heteromeric serine/threonine kinases that control progression through
the cell cycle in concert with their regulatory subunits, the cyclins. Although there are 12 different cdk
genes, only 5 have been shown to directly drive the cell cycle (Cdk1, -2, -3, -4, and -6). Following
extracellular mitogenic stimuli, cyclin D gene expression is upregulated. Cdk4 forms a complex with cyclin D
and phosphorylates Rb protein, leading to liberation of the transcription factor E2F. E2F induces
transcription of genes including cyclins A and E, DNA polymerase and thymidine kinase. Cdk4-cyclin E
complexes form and initiate G1/S transition. Subsequently, Cdk1-cyclin B complexes form and induce G2/M
phase transition. Cdk1-cyclin B activation induces the breakdown of the nuclear envelope and the initiation
of mitosis. Cdks are constitutively expressed and are regulated by several kinases and phosphastases,
including Wee1, CDK-activating kinase and Cdc25 phosphatase. In addition, cyclin expression is induced by
molecular signals at specific points of the cell cycle, leading to activation of Cdks. Tight control of Cdks
is essential as misregulation can induce unscheduled proliferation, and genomic and chromosomal instability.
Cdk4 has been shown to be mutated in some types of cancer, whilst a chromosomal rearrangement can lead to
Cdk6 overexpression in lymphoma, leukemia and melanoma. Cdks are currently under investigation as potential
targets for antineoplastic therapy, but as Cdks are essential for driving each cell cycle phase, therapeutic
strategies that block Cdk activity are unlikely to selectively target tumor cells.

Gene Wiki entry for POLD1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000019.10  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the POLD1 gene promoter:
         Elk-1   Pax-5   HOXA3   Nkx2-5   NF-kappaB   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPOLD1 promoter sequence
   Search Chromatin IP Primers for POLD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat POLD1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.3   Ensembl cytogenetic band:  19q13.33   HGNC cytogenetic band: 19q13.3

POLD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
POLD1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P050889:  view genomic region     (about GC identifiers)

Start:
50,887,461 bp from pter      End:
50,921,273 bp from pter
Size:
33,813 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DPOD1_HUMAN, P28340 (See protein sequence)
Recommended Name: DNA polymerase delta catalytic subunit  
Size: 1107 amino acids; 123631 Da
Cofactor: Binds 1 4Fe-4S cluster (By similarity)
Subunit: Heterotetramer composed of subunits of 125 kDa, 50 kDa, 66 kDa and 12 kDa. The 125 kDa subunit contains
the polymerase active site and most likely the active site for the 3'-5' exonuclease activity. Interacts with
WRNIP1. Interacts with POLD4 and PCNA
Miscellaneous: In eukaryotes there are five DNA polymerases: alpha, beta, gamma, delta, and epsilon which are
responsible for different reactions of DNA synthesis
Secondary accessions: Q8NER3 Q96H98

Explore the universe of human proteins at neXtProt for POLD1: NX_P28340

Explore proteomics data for POLD1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys272, Lys323, Lys373, Lys414, Lys439, Lys514, Lys554, Lys648, Lys653, Lys710,
                                 Lys738, Lys750, Lys796, Lys885, Lys897, Lys931, Lys964, Lys998, Lys1007, Lys1039 (see all 21)
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for POLD1 (P28340) (see all 38)
     LISKKRY  LSFDIEC  VGKLPCL  FPSPIRL 


    See POLD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001243778.1  NP_002682.2  

    ENSEMBL proteins: 
     ENSP00000470726   ENSP00000406046   ENSP00000472600   ENSP00000473052   ENSP00000472607  
     ENSP00000472445   ENSP00000470426   ENSP00000469115   ENSP00000469308  
    Reactome Protein details: P28340

    POLD1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for POLD1
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    Novus Biologicals POLD1 Protein
    Novus Biologicals POLD1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    POLD1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals POLD1 Antibodies
    Abcam antibodies for POLD1
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for POLD1
    LSBio Antibodies in human, mouse, rat for POLD1

    POLD1 Assay Products:

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    GenScript Custom Assay Services for POLD1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    POL: DNA polymerases

    Selected InterPro protein domains (see all 8):
     IPR025687 Znf-C4pol
     IPR006172 DNA-dir_DNA_pol_B
     IPR004578 DNA-dir_DNA_pol_B_pol2
     IPR006133 DNA-dir_DNA_pol_B_exonuc
     IPR006134 DNA-dir_DNA_pol_B_multi_dom

    Graphical View of Domain Structure for InterPro Entry P28340

    ProtoNet protein and cluster: P28340

    1 Blocks protein domain: IPB006134 DNA polymerase B domain

    UniProtKB/Swiss-Prot: DPOD1_HUMAN, P28340
    Domain: The CysB motif binds 1 4Fe-4S cluster and is required for the formation of polymerase complexes (By
    similarity)
    Similarity: Belongs to the DNA polymerase type-B family
    Similarity: Contains 1 CysA-type zinc finger


    POLD1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DPOD1_HUMAN, P28340
    Function: Possesses two enzymatic activities: DNA synthesis (polymerase) and an exonucleolytic activity that
    degrades single stranded DNA in the 3'- to 5'-direction. Required with its accessory proteins (proliferating cell
    nuclear antigen (PCNA) and replication factor C (RFC) or activator 1) for leading strand synthesis. Also involved
    in completing Okazaki fragments initiated by the DNA polymerase alpha/primase complex
    Catalytic activity: Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1)

         Genatlas biochemistry entry for POLD1:
    polymerase (DNA directed),delta 1,catalytic subunit 125kDa,involved in DNA replication of nuclear genome,also
    possessing an intrinsic proofreading function that reduces the levels of errors during replication,deleted in
    sporadic colorectal cancers

         Enzyme Number (IUBMB): EC 2.7.7.71 2

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IDA16762037
    GO:0003682chromatin binding IDA16762037
    GO:0003887DNA-directed DNA polymerase activity IMP16762037
         
    POLD1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for POLD1:
     Decreased Salmonella enterica  

         9 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Pold1):
     cardiovascular system  cellular  embryogenesis  hematopoietic system  immune system 
     integument  mortality/aging  muscle  tumorigenesis 

    POLD1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pold1tm1.1Uchi for POLD1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for POLD1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for POLD1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for POLD1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for POLD1

    miRNA
    Products:
        
    miRTarBase miRNAs that target POLD1:
    hsa-mir-1 (MIRT023874), hsa-mir-193b-3p (MIRT016440), hsa-let-7e-5p (MIRT051665), hsa-mir-24-3p (MIRT004837), hsa-mir-324-5p (MIRT043208), hsa-mir-34a-5p (MIRT025336)

    Block miRNA regulation of human, mouse, rat POLD1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate POLD1
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for POLD1
    Predesigned siRNA for gene silencing in human, mouse, rat POLD1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for POLD1

    Clone
    Products:
         
    OriGene clones in human, mouse for POLD1 (see all 6)
    OriGene ORF clones in mouse, rat for POLD1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: POLD1 (NM_002691)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for POLD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POLD1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for POLD1
    Browse ESI BIO Cell Lines and PureStem Progenitors for POLD1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POLD1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DPOD1_HUMAN, P28340: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    chloroplast2
    cytosol2
    mitochondrion2
    extracellular1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000109nucleotide-excision repair complex IDA--
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--

    POLD1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for POLD1 About   (see all 17)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Telomere C-strand (Lagging Strand) Synthesis
    Gap-filling DNA repair synthesis and ligation in TC-NER0.94
    Removal of the Flap Intermediate from the C-strand0.00
    Repair synthesis of patch ~27-30 bases long by DNA polymerase0.94
    Mismatch repair0.00
    Telomere C-strand (Lagging Strand) Synthesis0.79
    Lagging Strand Synthesis0.00
    Extension of Telomeres0.79
    Polymerase switching0.00
    2Global Genomic NER (GG-NER)
    Global Genomic NER (GG-NER)0.69
    Nucleotide Excision Repair Pathway0.48
    Nucleotide excision repair0.69
    3Resolution of Abasic Sites (AP sites)
    Resolution of Abasic Sites (AP sites)0.89
    Base Excision Repair0.00
    Resolution of AP sites via the multiple-nucleotide patch replacement pathway0.89
    Removal of DNA patch containing abasic residue0.00
    Base excision repair0.53
    4DNA strand elongation
    DNA strand elongation0.63
    DNA replication0.63
    5Homologous recombination
    Homologous recombination0.40
    Homologous recombination0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for POLD1
        Mismatch Repair in Eukaryotes
    DNA Repair Mechanisms
    Nucleotide Excision Repair Pathway
    Cell Cycle Control of Chromosomal Replication

    1 GeneGo (Thomson Reuters) Pathway for POLD1
        Cell cycle Transition and termination of DNA replication

    4 BioSystems Pathways for POLD1
        Mismatch repair
    Homologous recombination
    DNA Replication
    Nucleotide Metabolism

    Selected Reactome Pathways for POLD1 (see all 13)
        Processive synthesis on the lagging strand
    Removal of DNA patch containing abasic residue
    Processive synthesis on the C-strand of the telomere
    Resolution of AP sites via the multiple-nucleotide patch replacement pathway
    Repair synthesis for gap-filling by DNA polymerase in TC-NER


    Selected Kegg Pathways  (Kegg details for POLD1) (see all 9):
        Purine metabolism
    Pyrimidine metabolism
    Metabolic pathways
    DNA replication
    Base excision repair


    POLD1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for POLD1
    Interactions:

        Search GeneGlobe Interaction Network for POLD1

    Selected Interacting proteins for POLD1 (P283401, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 860)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=2 
    HIST1H4BP628053I2D: score=2 
    HIST1H4CP628053I2D: score=2 
    HIST1H4DP628053I2D: score=2 
    HIST1H4EP628053I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 22):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle TAS--
    GO:0000722telomere maintenance via recombination TAS--
    GO:0000723telomere maintenance TAS--
    GO:0000731DNA synthesis involved in DNA repair IMP1730053
    GO:0006139nucleobase-containing compound metabolic process ----

    POLD1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for POLD1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    SU 9516Potent cdk2 inhibitor[377090-84-1]
    Purvalanol ACyclin-dependent kinase inhibitor[212844-53-6]
    Ro 3306Cyclin-dependent kinase (cdk) 1 inhibitor[872573-93-8]
    Purvalanol BCyclin-dependent kinase inhibitor[212844-54-7]
    KenpaullonePotent cyclin-dependent kinase inhibitor. Also inhibits GSK-3[142273-20-9]

    6 HMDB Compounds for POLD1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--
    Thymidine 5'-triphosphate2'-Deoxythymidine 5'-triphosphate (see all 13)365-08-2--
    dATP2'-Deoxy-5'-ATP (see all 8)1927-31-7--
    dCTP2'-deoxycytidine-5'-triphosphate (see all 4)2056-98-6--
    dGTP2'-Deoxyguanosine 5'-triphosphate (see all 4)2564-35-4--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for POLD1 gene (2 alternative transcripts): 
    NM_001256849.1  NM_002691.3  

    Unigene Cluster for POLD1:

    Polymerase (DNA directed), delta 1, catalytic subunit
    Hs.279413  [show with all ESTs]
    Unigene Representative Sequence: NM_001256849
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000600859 ENST00000440232(uc002psb.4 uc002psc.4 uc010enx.3 uc010eny.3)
    ENST00000601098 ENST00000599857 ENST00000600746 ENST00000593887 ENST00000595904
    ENST00000596425 ENST00000593407 ENST00000593981 ENST00000596648 ENST00000597963
    ENST00000596221
    miRNA
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    GenScript: all cDNA clones in your preferred vector: POLD1 (NM_002691)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for POLD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POLD1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for POLD1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat POLD1
      QuantiTect SYBR Green Assays in human, mouse, rat POLD1
      QuantiFast Probe-based Assays in human, mouse, rat POLD1

    Additional mRNA sequence: 

    BC008800.1 DQ234348.1 M80397.1 M81735.1 NR_046402.1 

    8 DOTS entries:

    DT.213261  DT.92435774  DT.97775691  DT.92435776  DT.102831522  DT.92435775  DT.75103553  DT.92435777 

    Selected AceView cDNA sequences (see all 214):

    CR597968 BQ955289 BE274988 BC008800 T29087 CA455120 BM826084 BE535321 
    AI049554 BX382861 BU855691 BQ070749 CB051475 BM457847 BU185961 BM905305 
    BQ213077 BE298157 BU527550 BE397328 BQ918345 M80397 CB321982 CA396923 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for POLD1 (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19 ^
    SP1:                    -     -     -                                   -                             -                                         -               
    SP2:                    -     -     -                                   -                             -                                         -               
    SP3:                                                                    -                             -                                                         
    SP4:                    -     -     -                                   -                             -                                         -               
    SP5:                                                                                                                                                            

    ExUns: 20 ^ 21 ^ 22 ^ 23 ^ 24a · 24b · 24c ^ 25a · 25b ^ 26 ^ 27 ^ 28 ^ 29 ^ 30a · 30b
    SP1:                                      -           -                                       
    SP2:                                      -           -                                       
    SP3:                                      -           -                                       
    SP4:                                      -     -     -                                       
    SP5:                                                  -                                       


    ECgene alternative splicing isoforms for POLD1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    POLD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    POLD1 Expression
    About this image


    POLD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Thymus (Hematopoietic System)
             Thymus
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
    POLD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    POLD1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.279413

    UniProtKB/Swiss-Prot: DPOD1_HUMAN, P28340
    Tissue specificity: Expressed across a panel of tissues, with high levels of expression in heart and lung

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for POLD1 gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pold11 , 5 polymerase (DNA directed), delta 1, catalytic subunit1, 5 84.65(n)1
    89.5(a)1
      7 (28.83 cM)5
    189711  NM_011131.31  NP_035261.31 
     445327465 
    lizard
    (Anolis carolinensis)
    Reptilia POLD16
    polymerase (DNA directed), delta 1, catalytic subu...
    72(a)
    1 ↔ 1
    6(79699157-79727272)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.15642 Transcribed sequence with moderate similarity to protein more 78.9(n)    137694477 
    zebrafish
    (Danio rerio)
    Actinopterygii iktdsubc_1d112 iktdsubc_1d11 78.56(n)   368928  BM342416.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta DNApol-&dgr;3
    DNApol-delta1
    lagging strand elongation 3'-5'
    exodeoxyribonuclease3
    DNA-polymerase-delta1
    58(a)3
    60.81(n)1
    60.97(a)1
      72C13
    397461  NM_079375.31  NP_524099.21 
    worm
    (Caenorhabditis elegans)
    Secernentea F10C2.41 , 3 DNA polymerase family B3
    F10C2.41
    49(a)3
    51.42(n)1
    51.81(a)1
      V(12044206-12047802)3
    1796521  NM_073616.31  NP_506017.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes POL31 POL3 50.91(n)
    51.71(a)
      851456   NP_010181.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons EMB27801 EMB2780 55.09(n)
    57.47(a)
      836517  NM_125792.2  NP_201201.2 
    rice
    (Oryza sativa)
    Liliopsida Os.37382 Oryza sativa (japonica cultivar-group) OspolD1 mRNA more 73.91(n)    AB037899.1 


    ENSEMBL Gene Tree for POLD1 (if available)
    TreeFam Gene Tree for POLD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for POLD1 gene
    1 SIMAP similar gene for POLD1 using alignment to 8 protein entries:     DPOD1_HUMAN (see all proteins):
    hREV3

    POLD1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for POLD1
    PGOHUM00000243670


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for POLD1 (see all 1127)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0693354
    Colorectal cancer 10 (CRCS10)4--see VAR_0693352 S N mis40--------
    rs113984331,2
    C--50886190(+) GACCAG/-GGGCC 3 -- us2k1 trp32Minor allele frequency- -:0.00NA CSA 4
    rs32192761,2
    C,F--50886818(+) AGCCTG/AGGGGC 3 -- us2k13Minor allele frequency- A:0.05NS WA 286
    rs1143977051,2
    F--50886870(+) AGGAGA/GGACGC 3 -- us2k11Minor allele frequency- G:0.01WA 118
    rs32192771,2
    C,F,H--50886931(+) TGCCAA/G/TCCCTG 3 -- us2k15NS EA 588
    rs26951231,2
    C,F,A,H--50886982(+) GGTTGG/CATGGA 3 -- us2k116Minor allele frequency- C:0.14NS WA EA CSA 1760
    rs32192781,2
    C,F,H--50887006(+) AAGGTG/ATATTT 3 -- us2k16Minor allele frequency- A:0.02NS EA WA 546
    rs1813724001,2
    --50887051(+) TACCAA/GTGATC 3 -- us2k10--------
    rs32192791,2
    C,F,H--50887058(+) GATCAC/TCTTAT 3 -- us2k16Minor allele frequency- T:0.01NS EA WA 702
    rs32192801,2
    F--50887061(+) CACCTTATCCT/-
            
    AAGAG
    3 -- us2k11Minor allele frequency- -:0.02NS 168

    HapMap Linkage Disequilibrium report for POLD1 (50887461 - 50921273 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for POLD1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2718732CNV Deletion23290073
    esv2667096CNV Deletion23128226
    nsv912281CNV Loss21882294
    dgv3976n71CNV Loss21882294
    nsv912282CNV Loss21882294

    Human Gene Mutation Database (HGMD): POLD1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing POLD1
    DNA2.0 Custom Variant and Variant Library Synthesis for POLD1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 174761   
    OMIM disorders: 612591  615381  
    UniProtKB/Swiss-Prot: DPOD1_HUMAN, P28340
  • Colorectal cancer 10 (CRCS10) [MIM:612591]: A complex disease characterized by malignant lesions arising
    from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated
    with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the
    colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. Note=Disease
    susceptibility is associated with variations affecting the gene represented in this entry
  • Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) [MIM:615381]: An
    autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, metabolic abnormalities
    including insulin resistance and diabetes mellitus, sclerodermatous skin, and a facial appearance characterized
    by mandibular hypoplasia. Sensorineural deafness occurs late in the first or second decades of life. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for POLD1 (see all 41):    
    About MalaCards
    mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome    colorectal cancer 10    skin tag    alpers syndrome
    mutism    chronic progressive external ophthalmoplegia    herpes zoster    ophthalmoplegia
    human immunodeficiency virus infectious disease    werner syndrome    cockayne syndrome    leukodystrophy
    familial breast cancer    melanoma    acquired immunodeficiency syndrome    xeroderma pigmentosum
    lipodystrophy    graft versus host disease    vaccinia    leukemia

    9 diseases from the University of Copenhagen DISEASES database for POLD1:
    Hepatitis B     Herpes simplex     Hepatitis     Xeroderma pigmentosum
    Cancer     Acquired immunodeficiency syndrome     Retinitis     Vaccinia
    Herpes zoster

    POLD1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): POLD1
    Human Genome Epidemiology (HuGE) Navigator: POLD1 (18 documents)

    Export disorders for POLD1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for POLD1 gene, integrated from 10 sources (see all 103):
    (articles sorted by number of sources associating them with POLD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Primary structure of the catalytic subunit of human DNA polymerase delta and chromosomal location of the gene. (PubMed id 1722322)1, 2, 3 Chung D.W.... Downey K.M. (Proc. Natl. Acad. Sci. U.S.A. 1991)
    2. Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. (PubMed id 23263490)1, 2 Palles C.... Tomlinson I. (Nat. Genet. 2013)
    3. An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy. (PubMed id 23770608)1, 2 Weedon M.N....Hattersley A.T. (Nat. Genet. 2013)
    4. Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk. (PubMed id 20496165)1, 4 Monsees G.M....Han J. (Breast Cancer Res. Treat. 2011)
    5. Variation within DNA repair pathway genes and risk of multiple sclerosis. (PubMed id 20522537)1, 4 Briggs F.B....Barcellos L.F. (Am. J. Epidemiol. 2010)
    6. Association between genetic variants in the base excision repair pathway and outcomes after hematopoietic cell transplantations. (PubMed id 20226869)1, 4 Thyagarajan B....Arora M. (Biol. Blood Marrow Transplant. 2010)
    7. Polymorphisms in the base excision repair pathway and graft-versus-host disease. (PubMed id 20574454)1, 4 Arora M....Thyagarajan B. (Leukemia 2010)
    8. Genetic susceptibility to distinct bladder cancer subphenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (Eur. Urol. 2010)
    9. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    10. PTEN identified as important risk factor of chronic obstructive pulmonary disease. (PubMed id 19625176)1, 4 Hosgood H.D....Lan Q. (Respir Med 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5424 HGNC: 9175 AceView: POLD1 Ensembl:ENSG00000062822 euGenes: HUgn5424
    ECgene: POLD1 Kegg: 5424 H-InvDB: POLD1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for POLD1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for POLD1 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/pold1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for POLD1 gene:
    Search GeneIP for patents involving POLD1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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