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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

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)
Pneumococci & Pneumococcal Diseases Congress
  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)
About This Section

Aliases
Polymerase (DNA Directed), Delta 1, Catalytic Subunit1 2     CDC22
POLD1 2 3     CRCS102
DNA Polymerase Subunit Delta P1252 3     MDPL2
EC 2.7.7.73 8     CDC2 Homolog2
CDC2 Homolog (S. Cerevisiae)1     DNA Polymerase Delta Catalytic Subunit2
Polymerase (DNA Directed), Delta 1, Catalytic Subunit (125kD)1     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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 skin tag, and alpers syndrome, and among its related super-pathways are Lagging Strand Synthesis and Global Genomic NER (GG-NER). GO annotations related to this gene include 4 iron, 4 sulfur cluster binding and nucleotide 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for POLD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Nucleus
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P28340

  • 4/38 DME Specific Peptides for POLD1 (P28340) (see all 38)
     LISKKRY  LSFDIEC  VGKLPCL  FPSPIRL 

    POLD1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    POLD1 Protein Expression
    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
    Human Recombinant Protein Products 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. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000109nucleotide-excision repair complex IDA--
    GO:0005634nucleus IDA16762037
    GO:0005654nucleoplasm TAS--
    GO:0043625delta DNA polymerase complex IBA--

    POLD1 for ontologies           About GeneDecksing



    POLD1 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    POL: DNA polymerases

    5/8 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/9 molecular function terms (GO ID links to tree view) (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 - Custom generated mouse model solutions for POLD1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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-24 (MIRT004837)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat POLD1
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate POLD1
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    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POLD1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for POLD1 About   (see all 18)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Lagging Strand Synthesis
    Gap-filling DNA repair synthesis and ligation in TC-NER0.94
    Processive synthesis on the C-strand of the telomere0.91
    Gap-filling DNA repair synthesis and ligation in GG-NER0.94
    Polymerase switching on the C-strand of the telomere0.70
    Repair synthesis for gap-filling by DNA polymerase in TC-NER0.94
    Leading Strand Synthesis0.70
    Repair synthesis of patch ~27-30 bases long by DNA polymerase0.94
    Polymerase switching0.70
    2Global Genomic NER (GG-NER)
    Global Genomic NER (GG-NER)0.70
    Nucleotide Excision Repair Pathway0.49
    Nucleotide excision repair0.70
    3Resolution of Abasic Sites (AP sites)
    Resolution of Abasic Sites (AP sites)0.89
    Removal of DNA patch containing abasic residue0.89
    Base Excision Repair0.89
    Base excision repair0.53
    Resolution of AP sites via the multiple-nucleotide patch replacement pathway0.89
    4Cell cycle Transition and termination of DNA replacation
    Cell cycle Transition and termination of DNA replacation0.95
    Cell cycle Transition and termination of DNA replication0.95
    5Homologous recombination
    Homologous recombination0.40
    Homologous recombination0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for POLD1
        Cell cycle Transition and termination of DNA replacation

    4 Downloadable PowerPoint Slides of QIAGEN 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
        Homologous recombination
    Mismatch repair
    DNA Replication
    Nucleotide Metabolism

    5/32        Reactome Pathways for POLD1 (see all 32)
        Telomere Maintenance
    Leading Strand Synthesis
    S Phase
    Polymerase switching on the C-strand of the telomere
    Cytosolic Iron-sulfur Cluster Assembly


    5/9         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

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for POLD1

    5/861 Interacting proteins for POLD1 (P283401, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 861)
    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): 5/21 biological process terms (GO ID links to tree view) (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000084S phase of mitotic cell cycle IDA16762037
    GO:0000278mitotic cell cycle TAS--
    GO:0000722telomere maintenance via recombination TAS--
    GO:0000723telomere maintenance TAS--
    GO:0000731DNA synthesis involved in DNA repair IMP1730053

    POLD1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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--

    Search CenterWatch for drugs/clinical trials and news about POLD1 / DPOD1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

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      QIAGEN 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 

    24/214 AceView cDNA sequences (see all 214):

    BC008800 BU931011 BQ918345 AI417758 BU173332 BE274988 BU527550 CA455120 
    M80397 BQ054258 BU859048 BG251957 BE535321 BU855691 BM457847 NM_002691 
    BQ955289 BU154168 CR597968 BE397328 BM905305 AI049554 BM826084 BM974483 

    GeneLoc Exon Structure

    5/10 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    POLD1 expression in normal human tissues (normalized intensities)      POLD1 embryonic expression: see
    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 
     5/40 selected tissues (see all 40) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Thalamus
             brain/midbrain   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus (Reproductive System)    fully expand to see all 5 entries
             uterus, post-menopause ; glandular cells   
     
     Nose (Sensory Organs)    fully expand to see all 3 entries
             nasopharynx ; respiratory epithelial cells   
             sensory organ/nose/nasal cavity   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             rectum ; glandular cells   

    See POLD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for POLD1

    SOURCE GeneReport for Unigene cluster: Hs.279413
        SABiosciences Custom PCR Arrays for POLD1
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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for POLD1 gene from 9/23 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 84.71(n)1
    89.68(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...
    71(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
    60.89(n)1
    61.27(a)1
      72C13
    397461  NM_079375.21  NP_524099.21 
    worm
    (Caenorhabditis elegans)
    Secernentea F10C2.41 , 3 DNA polymerase family B3
    Protein F10C2.41
    49(a)3
    51.25(n)1
    51.25(a)1
      V(12044206-12047802)3
    1796521  NM_073616.21  NP_506017.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes POL31 Pol3p 50.88(n)
    51.37(a)
      851456   NP_010181.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons EMB27801 DNA polymerase delta subunit 1 53.99(n)
    55.13(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)
    About This Section
    Paralogs for POLD1 gene
    2 SIMAP similar genes for POLD1 using alignment to 8 protein entries:     DPOD1_HUMAN (see all proteins):
    SPIB    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1127 SNPs in POLD1 are shown (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--------
    VAR_0693334
    ----see VAR_0693332 A D mis40--------
    VAR_0693374
    ----see VAR_0693372 R H mis40--------
    VAR_0693344
    ----see VAR_0693342 Q H mis40--------
    VAR_0693364
    ----see VAR_0693362 P L mis40--------
    VAR_0193454
    ----see VAR_0193452 R Q mis40--------
    VAR_0693384
    ----see VAR_0693382 A T 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

    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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 174761    OMIM disorders: --

    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

  • 20/22 diseases for POLD1 (see all 22):    About MalaCards
    skin tag    alpers syndrome    mutism    chronic progressive external ophthalmoplegia
    herpes zoster    ophthalmoplegia    human immunodeficiency virus infectious disease    werner syndrome
    leukodystrophy    familial breast cancer    xeroderma pigmentosum    melanoma
    graft versus host disease    vaccinia    encephalitis    meningioma
    leukemia    multiple sclerosis    colon cancer    breast cancer

    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


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    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)
    About This Section

    PubMed articles for POLD1 gene, integrated from 9 sources (see all 100):
    (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. (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. (2013)
    3. Variation within DNA repair pathway genes and risk of multiple sclerosis. (PubMed id 20522537)1, 4 Briggs F.B....Barcellos L.F. (2010)
    4. Association between genetic variants in the base exci sion repair pathway and outcomes after hematopoietic cell transplantations. (PubMed id 20226869)1, 4 Thyagarajan B....Arora M. (2010)
    5. Polymorphisms in the base excision repair pathway and graft-versus-host disease. (PubMed id 20574454)1, 4 Arora M....Thyagarajan B. (2010)
    6. Comprehensive screen of genetic variation in DNA repa ir pathway genes and postmenopausal breast cancer risk. (PubMed id 20496165)1, 4 Monsees G.M....Han J. (2010)
    7. Genetic susceptibility to distinct bladder cancer sub phenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (2010)
    8. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    9. PTEN identified as important risk factor of chronic o bstructive pulmonary disease. (PubMed id 19625176)1, 4 Hosgood H.D....Lan Q. (2009)
    10. Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PubMed id 19237606)1, 4 Michiels S....Benhamou S. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 5424 HGNC: 9175 AceView: POLD1 Ensembl:ENSG00000062822 euGenes: HUgn5424
    ECgene: POLD1 Kegg: 5424 H-InvDB: POLD1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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