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

POLD1 Gene

protein-coding   GIFtS: 67
GCID: GC19P050889

polymerase (DNA directed), delta 1, catalytic subunit

(Previous names: polymerase (DNA directed), delta 1, catalytic subunit (125kD)...)
(Previous symbol: POLD)
 Explore 26 diseases affiliated with
POLD1 via our new
 Human Malady Compendium 
Biological research products
for POLD1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Polymerase (DNA Directed), Delta 1, Catalytic Subunit1 2     Polymerase (DNA Directed), Delta 1, Catalytic Subunit (125kD)1
POLD1 2 3     CRCS102
CDC21 2     CDC2 Homolog2
DNA Polymerase Subunit Delta P1252 3     DNA Polymerase Delta Catalytic Subunit2
EC 2.7.7.73 8     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:
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)

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

Gene Wiki entry for POLD1


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011109.16  
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:
50,887,593 bp from pter      End:
50,921,271 bp from pter
Size:
33,679 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    POLD1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001243778.1  NP_002682.2  

    ENSEMBL proteins: 
     ENSP00000406046  
    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 ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    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



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    POLD1 for domains           About GeneDecksing

    5/8 InterPro domains/families (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 family: 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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 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): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003677DNA binding IDA16762037
    GO:0003682chromatin binding IDA16762037
    GO:0003887DNA-directed DNA polymerase activity IMP16762037
    GO:0005515protein binding IPI16510448
         
    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:
         Mouse knock-out Pold1tm1.1Uchi for POLD1
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for POLD1 

    miRNA
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    In Situ Assay
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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, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/16 super-pathways (see all 16About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Lagging Strand Synthesis
    8/20 pathways (see all 20)
    Lagging Strand Synthesis1.00
    Gap-filling DNA repair synthesis and ligation in GG-NER0.64
    Telomere C-strand (Lagging Strand) Synthesis0.91
    Repair synthesis of patch ~27-30 bases long by DNA polymerase0.59
    Extension of Telomeres0.83
    Repair synthesis for gap-filling by DNA polymerase in TC-NER0.59
    Processive synthesis on the lagging strand0.75
    DNA replication0.56
    2Resolution of Abasic Sites (AP sites)
    Resolution of Abasic Sites (AP sites)1.00
    Resolution of AP sites via the multiple-nucleotide patch replacement pathway0.89
    Base Excision Repair1.00
    Base excision repair0.51
    Removal of DNA patch containing abasic residue0.89
    3Global Genomic NER (GG-NER)
    Global Genomic NER (GG-NER)1.00
    Nucleotide Excision Repair Pathway0.49
    Nucleotide excision repair0.70
    4Nucleotide Excision Repair
    Nucleotide Excision Repair1.00
    DNA Repair0.46
    Transcription-coupled NER (TC-NER)0.90
    5Ubiquitinated Orc1 is degraded by the proteasome
    Synthesis of DNA0.51
    S Phase0.40
    DNA Replication0.49

    Pathway sources
    See GeneCards unified pathways
    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 
        Mismatch repair
    Homologous recombination
    Nucleotide Metabolism
    DNA Replication

    5/34        Reactome Pathways for POLD1 (see all 34)
        Telomere Maintenance
    Leading Strand Synthesis
    S Phase
    Polymerase switching on the C-strand of the telomere
    Cytosolic Iron-sulfur Cluster Assembly


    5/8         Kegg Pathways  (Kegg details for POLD1) (see all 8):
        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

    5/824 Interacting proteins for POLD1 (P283401, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 824)
    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): 5/20 biological process terms (GO ID links to tree view) (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000084S phase of mitotic cell cycle TAS--
    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, 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

    Browse Tocris compounds for POLD1

    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 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000440232(uc002psb.4 uc002psc.4 uc010enx.3 uc010eny.3)


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    Additional cDNA 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):

    R05675 CA396923 BF874672 BE298157 AI049554 AI580005 AW247826 BC008800 
    T29087 BM457847 BU859048 BQ054258 BU931011 BQ918345 BM905305 CB321982 
    CR597968 BE535321 BU501677 BQ955289 BQ070749 BE791519 CA455120 NM_002691 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --
    POLD1 Expression
    About this image
    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 last universal common ancestor (LUCA).

    Orthologs for POLD1 gene from 10/36 species (see all 36)    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
    --
    70(a)
    1 ↔ 1
    6(79699864-79723846)
    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 
    E. coli
    (Escherichia coli)
    Gamma proteobacteria polB6
    DNA polymerase II
    20(a)
    possible ortholog
    Chromosome(63429-65780)


    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

    POLD1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for POLD1
    PGOHUM00000243670


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/983 NCBI SNPs in POLD1 are shown (see all 983    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs792318931,2
    F--47223786(+) GTTGGG/TGTGGG 2 -- int11Minor allele frequency- T:0.03WA 118
    rs72606011,2
    C--47224112(+) CTATCG/AGCTCT 2 -- ut312Minor allele frequency- A:0.09CSA WA 120
    rs739324931,2
    C--47224151(+) TCCAGG/AAGGCT 2 -- ut312Minor allele frequency- A:0.10WA 120
    rs18025901,2
    C--47224154(+) AGGAGG/CCTCCC 2 -- ut313Minor allele frequency- C:0.03NA CSA WA 166
    rs414977501,2
    C,F--47224311(+) TCCCCC/ACTAGC 2 -- ut312Minor allele frequency- A:0.04NA WA 162
    rs10526771,2
    C,F,A--47224318(+) TAGCCC/GGGGAG 2 -- ut316Minor allele frequency- G:0.15NA WA 54
    rs414833441,2
    C--47224349(+) TCTGCT/GTTTAT 2 -- ut312Minor allele frequency- G:0.04NA CSA 46
    rs739324941,2
    C--47224397(+) ATGAAT/CACAAT 2 -- ut312Minor allele frequency- C:0.10WA 120
    rs559851081,2
    C--47224445(+) GGCTTC/TTAGGG 2 -- ds50012Minor allele frequency- T:0.10WA 120
    rs560771061,2
    C--47224461(+) AGTGAC/TACTGG 2 -- ds50012Minor allele frequency- T:0.10WA 120

    HapMap Linkage Disequilibrium report for POLD1 (50887593 - 50921271 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for POLD1
         1 CNV: 78239
    Human Gene Mutation Database (HGMD): POLD1

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    (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

    POLD1 for disorders           About GeneDecksing

    OMIM gene information: 174761    OMIM disorders: --

    20/26 diseases for POLD1 (see all 26):    About MalaCards
    chronic progressive external ophthalmoplegia    human immunodeficiency virus infectious disease    graft versus host disease    skin tag
    xeroderma pigmentosum    herpes zoster    alpers syndrome    mutism
    cockayne syndrome    ophthalmoplegia    familial breast cancer    multiple sclerosis
    hepatitis b    vaccinia    breast cancer    encephalitis
    pulmonary disease    hepatocellular carcinoma    colon cancer    meningioma

    2 diseases from the University of Copenhagen DISEASES database for POLD1:
    Mutism     Leukodystrophy
    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 91):
    (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. Functional roles of p12, the fourth subunit of human DNA polymerase delta. (PubMed id 16510448)1, 2 Li H.... Lee M.Y. (2006)
    3. Human Werner helicase interacting protein 1 (WRNIP1) functions as a novel modulator for DNA polymerase delta. (PubMed id 15670210)1, 2 Tsurimoto T.... Enomoto T. (2005)
    4. Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes. (PubMed id 15113441)1, 4 Sigurdson A.J....Struewing J.P. (2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Molecular cloning of the cDNA for the catalytic subunit of human DNA polymerase delta. (PubMed id 1542570)1, 2 Yang C.-L....Lee M.Y.W.T. (1992)
    7. Structure of the gene for the catalytic subunit of human DNA polymerase delta (POLD1). (PubMed id 7490075)1, 9 Chang L.S....Lee M.Y. (1995)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    9. Protein arginine methyltransferase 7 regulates cellular response to DNA damage by methylating promoter histones H2A and H4 of the polymerase delta catalytic subunit gene, POLD1. (PubMed id 22761421)1 Karkhanis V.... Sif S. (2012)
    10. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)

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

      Query String
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    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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