POLD1 Gene (Protein Coding)

DNA Polymerase Delta 1, Catalytic Subunit

GC19P050385
GIFtS:
47
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... See more...

Aliases for POLD1 Gene

Aliases for POLD1 Gene

  • DNA Polymerase Delta 1, Catalytic Subunit 2 3 5
  • Polymerase (DNA) Delta 1, Catalytic Subunit 2 3
  • DNA Polymerase Delta Catalytic Subunit 3 4
  • DNA Polymerase Subunit Delta P125 3 4
  • 3'-5' Exodeoxyribonuclease 3 4
  • EC 2.7.7.7 4 51
  • CDC2 2 3
  • POLD 3 4
  • Polymerase (DNA Directed), Delta 1, Catalytic Subunit (125kD) 2
  • Polymerase (DNA Directed), Delta 1, Catalytic Subunit 125kDa 3
  • CDC2 Homolog (S. Cerevisiae) 2
  • CDC2 Homolog 3
  • EC 3.1.11.- 4
  • CRCS10 3
  • POLD1 5
  • MDPL 3

External Ids for POLD1 Gene

Previous HGNC Symbols for POLD1 Gene

  • POLD

Previous GeneCards Identifiers for POLD1 Gene

  • GC19P051516
  • GC19P051248
  • GC19P055563
  • GC19P055580
  • GC19P055581
  • GC19P055582
  • GC19P050889
  • GC19P047225

Summaries for POLD1 Gene

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]

CIViC Summary for POLD1 Gene

GeneCards Summary for POLD1 Gene

POLD1 (DNA Polymerase Delta 1, Catalytic Subunit) is a Protein Coding gene. Diseases associated with POLD1 include Colorectal Cancer 10 and Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome. Among its related pathways are Nucleotide excision repair and Telomere C-strand (Lagging Strand) Synthesis. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and chromatin binding. An important paralog of this gene is REV3L.

UniProtKB/Swiss-Prot Summary for POLD1 Gene

  • As the catalytic component of the trimeric (Pol-delta3 complex) and tetrameric DNA polymerase delta complexes (Pol-delta4 complex), plays a crucial role in high fidelity genome replication, including in lagging strand synthesis, and repair. Exhibits both DNA polymerase and 3'- to 5'-exonuclease activities (PubMed:16510448, PubMed:19074196, PubMed:20334433, PubMed:24035200, PubMed:24022480). Requires the presence of accessory proteins POLD2, POLD3 and POLD4 for full activity. Depending upon the absence (Pol-delta3) or the presence of POLD4 (Pol-delta4), displays differences in catalytic activity. Most notably, expresses higher proofreading activity in the context of Pol-delta3 compared with that of Pol-delta4 (PubMed:19074196, PubMed:20334433). Although both Pol-delta3 and Pol-delta4 process Okazaki fragments in vitro, Pol-delta3 may be better suited to fulfill this task, exhibiting near-absence of strand displacement activity compared to Pol-delta4 and stalling on encounter with the 5'-blocking oligonucleotides. Pol-delta3 idling process may avoid the formation of a gap, while maintaining a nick that can be readily ligated (PubMed:24035200). Along with DNA polymerase kappa, DNA polymerase delta carries out approximately half of nucleotide excision repair (NER) synthesis following UV irradiation (PubMed:20227374). Under conditions of DNA replication stress, in the presence of POLD3 and POLD4, may catalyze the repair of broken replication forks through break-induced replication (BIR) (PubMed:24310611). Involved in the translesion synthesis (TLS) of templates carrying O6-methylguanine, 8oxoG or abasic sites (PubMed:19074196, PubMed:24191025).

Gene Wiki entry for POLD1 Gene

Additional gene information for POLD1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POLD1 Gene

Genomics for POLD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for POLD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POLD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POLD1

Top Transcription factor binding sites by QIAGEN in the POLD1 gene promoter:
  • Elk-1
  • HOXA3
  • NF-kappaB
  • NF-kappaB1
  • Nkx2-5
  • Pax-5

Genomic Locations for POLD1 Gene

Latest Assembly
chr19:50,384,204-50,418,018
(GRCh38/hg38)
Size:
33,815 bases
Orientation:
Plus strand

Previous Assembly
chr19:50,887,580-50,921,275
(GRCh37/hg19 by Entrez Gene)
Size:
33,696 bases
Orientation:
Plus strand

chr19:50,887,461-50,921,273
(GRCh37/hg19 by Ensembl)
Size:
33,813 bases
Orientation:
Plus strand

Genomic View for POLD1 Gene

Genes around POLD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POLD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POLD1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for POLD1 Gene

Proteins for POLD1 Gene

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  • Protein details for POLD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P28340-DPOD1_HUMAN
    Recommended name:
    DNA polymerase delta catalytic subunit
    Protein Accession:
    P28340
    Secondary Accessions:
    • Q8NER3
    • Q96H98

    Protein attributes for POLD1 Gene

    Size:
    1107 amino acids
    Molecular mass:
    123631 Da
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883;
    Quaternary structure:
    • Component of the tetrameric DNA polymerase delta complex (Pol-delta4), which consists of POLD1/p125, POLD2/p50, POLD3/p66/p68 and POLD4/p12, with POLD1 bearing both DNA polymerase and 3' to 5' proofreading exonuclease activities (PubMed:11595739, PubMed:12522211, PubMed:17317665, PubMed:22801543). Within Pol-delta4, directly interacts with POLD2 and POLD4 (PubMed:11328591, PubMed:12403614, PubMed:16510448). Following genotoxic stress by DNA-damaging agents, such as ultraviolet light and methyl methanesulfonate, or by replication stress induced by treatment with hydroxyurea or aphidicolin, Pol-delta4 is converted into a trimeric form of the complex (Pol-delta3) by POLD4 degradation. Pol-delta3 is the major form at S phase replication sites and DNA damage sites (PubMed:22801543, PubMed:17317665). POLD1 displays different catalytic properties depending upon the complex it is found in (PubMed:17317665). It exhibits higher proofreading activity and fidelity than Pol-delta4, making it particularly well suited to respond to DNA damage (PubMed:19074196, PubMed:20334433). Directly interacts with PCNA, as do POLD3 and POLD4; this interaction stimulates Pol-delta4 polymerase activity (PubMed:11328591, PubMed:12403614, PubMed:12522211, PubMed:16510448, PubMed:24022480, PubMed:24939902). As POLD2 and POLD4, directly interacts with WRNIP1; this interaction stimulates DNA polymerase delta-mediated DNA synthesis, independently of the presence of PCNA. This stimulation may be due predominantly to an increase of initiation frequency and also to increased processivity (PubMed:15670210). Also observed as a dimeric complex with POLD2 (Pol-delta2 complex). Pol-delta2 is relatively insensitive to the PCNA stimulation (2-5-fold) compared to Pol-delta4 that is stimulated by over 50-fold (PubMed:12403614). The DNA polymerase delta complex interacts with POLDIP2; this interaction is probably mediated through direct binding to POLD2 (PubMed:12522211). Interacts with CIAO1 (PubMed:23891004). Interacts with POLDIP2 (PubMed:24191025).

    Three dimensional structures from OCA and Proteopedia for POLD1 Gene

neXtProt entry for POLD1 Gene

Protein Expression for POLD1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for POLD1 Gene

P28340:
  • LDFSSLYPS
  • PLIFQQLE
  • SIITDLQNG
  • VGKLPCL
  • LPLRLLERLMVLVN
  • FPSPIRL
  • RRRLAVYC
  • YGDTDSVM
  • GYYDVPIATLDF
  • ELCSRESMFGYHGHGPSPFLRIT
  • VLLRGDHTRCKTVLT
  • TPTGDEFVK
  • RLWTQCQ
  • KKRYAGL
  • SNIRDSSFQS
  • KVGGLLAF
  • FQQLEID
  • KQAHVELA
  • EMARVTG
  • LISKKRY
  • GLGTPSFAPYEANVDFEIRFMVD
  • YCLKDAYLP
  • LSFDIEC
  • DIVGCNWLELPAGKY
  • SMVGRVQMDMLQVLLRE
  • ELAERMRKRD
  • RDPGSAP
  • VLDGRQLALK
  • EDPLFVLE
  • SLYPSIM
  • DVICTSRDCPIFYMR
  • YFPYLLI
  • SVRKGLLPQILENLLSARKRAKAELA
  • IDTQYYL
  • NSVYGFTG
  • LPCLEIS
  • DLLCNRIDIS
  • ISDLLCN

Post-translational modifications for POLD1 Gene

  • Ubiquitination at Lys272, Lys323, Lys373, Lys414, Lys439, Lys514, Lys554, Lys648, Lys653, Lys710, Lys738, Lys750, Lys796, Lys885, Lys897, Lys931, Lys964, Lys998, Lys1007, Lys1039, and Lys1087
  • Modification sites at PhosphoSitePlus

Other Protein References for POLD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for POLD1 Gene

Gene Families for POLD1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for POLD1 Gene

InterPro:
Blocks:
  • DNA polymerase B domain
ProtoNet:

Suggested Antigen Peptide Sequences for POLD1 Gene

GenScript: Design optimal peptide antigens:
  • DNA polymerase subunit delta p125 (DPOD1_HUMAN)
  • DNA polymerase (E7EVW0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P28340

UniProtKB/Swiss-Prot:

DPOD1_HUMAN :
  • The CysB motif binds 1 4Fe-4S cluster and is required for the formation of polymerase complexes.
  • Belongs to the DNA polymerase type-B family.
Domain:
  • The CysB motif binds 1 4Fe-4S cluster and is required for the formation of polymerase complexes.
Family:
  • Belongs to the DNA polymerase type-B family.
genes like me logo Genes that share domains with POLD1: view

Function for POLD1 Gene

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Molecular function for POLD1 Gene

UniProtKB/Swiss-Prot Function:
As the catalytic component of the trimeric (Pol-delta3 complex) and tetrameric DNA polymerase delta complexes (Pol-delta4 complex), plays a crucial role in high fidelity genome replication, including in lagging strand synthesis, and repair. Exhibits both DNA polymerase and 3'- to 5'-exonuclease activities (PubMed:16510448, PubMed:19074196, PubMed:20334433, PubMed:24035200, PubMed:24022480). Requires the presence of accessory proteins POLD2, POLD3 and POLD4 for full activity. Depending upon the absence (Pol-delta3) or the presence of POLD4 (Pol-delta4), displays differences in catalytic activity. Most notably, expresses higher proofreading activity in the context of Pol-delta3 compared with that of Pol-delta4 (PubMed:19074196, PubMed:20334433). Although both Pol-delta3 and Pol-delta4 process Okazaki fragments in vitro, Pol-delta3 may be better suited to fulfill this task, exhibiting near-absence of strand displacement activity compared to Pol-delta4 and stalling on encounter with the 5'-blocking oligonucleotides. Pol-delta3 idling process may avoid the formation of a gap, while maintaining a nick that can be readily ligated (PubMed:24035200). Along with DNA polymerase kappa, DNA polymerase delta carries out approximately half of nucleotide excision repair (NER) synthesis following UV irradiation (PubMed:20227374). Under conditions of DNA replication stress, in the presence of POLD3 and POLD4, may catalyze the repair of broken replication forks through break-induced replication (BIR) (PubMed:24310611). Involved in the translesion synthesis (TLS) of templates carrying O6-methylguanine, 8oxoG or abasic sites (PubMed:19074196, PubMed:24191025).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 2'-deoxyribonucleoside 5'-triphosphate + DNA(n) = diphosphate + DNA(n+1); Xref=Rhea:RHEA:22508, Rhea:RHEA-COMP:11130, Rhea:RHEA-COMP:11131, ChEBI:CHEBI:33019, ChEBI:CHEBI:61560, ChEBI:CHEBI:83828; EC=2.7.7.7; Evidence={ECO:0000269|PubMed:19074196, ECO:0000269|PubMed:20334433};.
UniProtKB/Swiss-Prot Induction:
Up-regulated by serum stimulation.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: Note=kcat is 87 sec(-1) for DNA synthesis by Pol-delta4 and 19 sec(-1) for Pol-delta3. kcat for exonuclease activity determined using a 26mer/40mer duplex DNA gives a value of 0.003 sec(-1) for Pol-delta4 and 0.026 sec(-1) for Pol-delta3. When using a 26mer/40mer with a T:G mismatch at the primer terminus, the switching rates from the polymerase to the exonuclease site for Pol-delta4 and Pol-delta3 are increased 20- and 10-fold, respectively, but the rate constant for Pol-delta3 is still 5-fold faster than that for Pol-delta4.;
UniProtKB/Swiss-Prot EnzymeRegulation:
Regulated by alteration of quaternary structure. Exhibits burst rates of DNA synthesis are about 5 times faster in the presence of POLD4 (Pol-delta4 complex) than in its absence (Pol-delta3 complex), while the affinity of the enzyme for its DNA and dNTP substrates appears unchanged. The Pol-delta3 complex is more likely to proofread DNA synthesis because it cleaves single-stranded DNA twice as fast and transfers mismatched DNA from the polymerase to the exonuclease sites 9 times faster compared to the Pol-delta3 complex. Pol-delta3 also extends mismatched primers 3 times more slowly in the absence of POLD4. The conversion of Pol-delta4 into Pol-delta3 is induced by genotoxic stress or by replication stress leading POLD4 degradation (PubMed:19074196, PubMed:20334433). Stimulated in the presence of PCNA (PubMed:11328591, PubMed:12403614, PubMed:12522211, PubMed:16510448, PubMed:24022480, PubMed:24939902). This stimulation is further increased in the presence of KCTD13/PDIP1, most probably via direct interaction between KCTD13 and POLD2 (By similarity).
GENATLAS Biochemistry:
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 Numbers (IUBMB) for POLD1 Gene

Phenotypes From GWAS Catalog for POLD1 Gene

Gene Ontology (GO) - Molecular Function for POLD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA,IDA 16762037
GO:0003682 chromatin binding IDA 16762037
GO:0003684 damaged DNA binding IDA 24939902
genes like me logo Genes that share ontologies with POLD1: view
genes like me logo Genes that share phenotypes with POLD1: view

Human Phenotype Ontology for POLD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for POLD1 Gene

MGI Knock Outs for POLD1:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POLD1

No data available for Transcription Factor Targets and HOMER Transcription for POLD1 Gene

Localization for POLD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLD1 Gene

Nucleus. Note=Colocalizes with PCNA and POLD3 at S phase replication sites (PubMed:11595739). After UV irradiation, recruited to DNA damage sites within 2 hours, independently on the cell cycle phase, nor on PCNA ubiquitination. This recruitment requires POLD3, PCNA and RFC1-replication factor C complex (PubMed:20227374, PubMed:22801543). {ECO:0000269 PubMed:11595739, ECO:0000269 PubMed:20227374, ECO:0000269 PubMed:22801543}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POLD1 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for POLD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000109 nucleotide-excision repair complex IDA 20713449
GO:0000781 colocalizes_with chromosome, telomeric region IDA 24270157
GO:0005634 nucleus IEA,IDA 16762037
GO:0005654 nucleoplasm IDA,TAS --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with POLD1: view

Pathways & Interactions for POLD1 Gene

PathCards logo

SuperPathways for POLD1 Gene

SuperPathway Contained pathways
1 Telomere C-strand (Lagging Strand) Synthesis
PCNA-Dependent Long Patch Base Excision Repair
.88
Resolution of AP sites via the multiple-nucleotide patch replacement pathway
.88
Extension of Telomeres
.77
Telomere C-strand (Lagging Strand) Synthesis
.77
DNA replication
.67
Base Excision Repair
.65
Resolution of Abasic Sites (AP sites)
.65
Gap-filling DNA repair synthesis and ligation in GG-NER
.64
Base excision repair
.63
DNA strand elongation
.62
Recognition of DNA damage by PCNA-containing replication complex
.62
Polymerase switching
.58
Cell cycle Transition and termination of DNA replication
.48
Lagging Strand Synthesis
.01
Leading Strand Synthesis
.01
Polymerase switching on the C-strand of the telomere
.01
Processive synthesis on the C-strand of the telomere
.01
Processive synthesis on the lagging strand
.01
Removal of the Flap Intermediate
.01
Removal of the Flap Intermediate from the C-strand
.01
2 Mismatch repair
Mismatch repair
.54
Mismatch Repair in Eukaryotes
.54
Mismatch Repair
.01
Mismatch repair (MMR) directed by MSH2-MSH3 (MutSbeta)
.01
Mismatch repair (MMR) directed by MSH2-MSH6 (MutSalpha)
.01
Mismatch repair
.01
3 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
Dual incision in TC-NER
.90
Gap-filling DNA repair synthesis and ligation in TC-NER
.90
Transcription-Coupled Nucleotide Excision Repair (TC-NER)
.84
Global Genome Nucleotide Excision Repair (GG-NER)
.76
Nucleotide Excision Repair
.76
4 DNA Double-Strand Break Repair
DNA Double-Strand Break Repair
.83
Homology Directed Repair
.83
HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)
.79
DNA Repair
.53
5 Nucleotide excision repair
Nucleotide excision repair
.60
Dual Incision in GG-NER
.60
Nucleotide Excision Repair Pathway
.39
genes like me logo Genes that share pathways with POLD1: view

Pathways by source for POLD1 Gene

1 GeneGo (Thomson Reuters) pathway for POLD1 Gene
  • Cell cycle Transition and termination of DNA replication
4 Qiagen pathways for POLD1 Gene
  • Cell Cycle Control of Chromosomal Replication
  • DNA Repair Mechanisms
  • Mismatch Repair in Eukaryotes
  • Nucleotide Excision Repair Pathway

Gene Ontology (GO) - Biological Process for POLD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000723 telomere maintenance TAS --
GO:0000731 DNA synthesis involved in DNA repair IMP 1730053
GO:0006260 DNA replication IEA,IMP 16762037
GO:0006261 DNA-dependent DNA replication IBA 21873635
GO:0006281 DNA repair TAS 3146346
genes like me logo Genes that share ontologies with POLD1: view

No data available for SIGNOR curated interactions for POLD1 Gene

Drugs & Compounds for POLD1 Gene

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(5) Drugs for POLD1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
dATP Experimental Pharma 0
dctp Experimental Pharma 0
dgtp Experimental Pharma 0
Phosphate Experimental Pharma 0
Thymidine 5'-triphosphate Experimental Pharma 0

(1) Additional Compounds for POLD1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
 14000-31-8
genes like me logo Genes that share compounds with POLD1: view

Transcripts for POLD1 Gene

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mRNA/cDNA for POLD1 Gene

3 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POLD1

Alternative Splicing Database (ASD) splice patterns (SP) for POLD1 Gene

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:
SP6:
SP7:
SP8:
SP9:
SP10:

ExUns: 20 ^ 21 ^ 22 ^ 23 ^ 24a · 24b · 24c ^ 25a · 25b ^ 26 ^ 27 ^ 28 ^ 29 ^ 30a · 30b
SP1: - -
SP2: - -
SP3: - -
SP4: - - -
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10: -

Relevant External Links for POLD1 Gene

GeneLoc Exon Structure for
POLD1

Expression for POLD1 Gene

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  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for POLD1 Gene

mRNA expression in normal human tissues for POLD1 Gene
mRNA expression by GTEx for POLD1 GenemRNA expression by BioGPS for POLD1 Gene

Protein differential expression in normal tissues from HIPED for POLD1 Gene

This gene is overexpressed in Fetal gut (9.7), Lymph node (9.1), Peripheral blood mononuclear cells (7.6), Stomach (6.5), and Frontal cortex (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for POLD1 Gene



Protein tissue co-expression partners for POLD1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for POLD1

SOURCE GeneReport for Unigene cluster for POLD1 Gene:

Hs.279413

mRNA Expression by UniProt/SwissProt for POLD1 Gene:

P28340-DPOD1_HUMAN
Tissue specificity: Widely expressed, with high levels of expression in heart and lung.

Evidence on tissue expression from TISSUES for POLD1 Gene

  • Intestine(3.2)
  • Skin(3)
  • Nervous system(2.8)
  • Pancreas(2.7)
  • Thyroid gland(2.7)
  • Lymph node(2.6)
  • Lung(2.6)
  • Stomach(2.5)
  • Kidney(2.3)
  • Blood(2.1)
  • Bone marrow(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for POLD1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • chin
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pituitary gland
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • breast
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • duodenum
  • intestine
  • kidney
  • liver
  • pancreas
  • small intestine
Pelvis:
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with POLD1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for POLD1 Gene

Orthologs for POLD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for POLD1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia POLD1 30 31
  • 98.02 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia POLD1 30 31
  • 89.81 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia POLD1 30 31
  • 88.71 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia POLD1 31
  • 86 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Pold1 30 17 31
  • 84.65 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Pold1 30
  • 84.38 (n)
Lizard
(Anolis carolinensis)
 Reptilia POLD1 31
  • 72 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia pold1 30
  • 67.09 (n)
Str.1564 30
Zebrafish
(Danio rerio)
 Actinopterygii pold1 30 31
  • 67.31 (n)
 OneToOne
iktdsubc_1d11 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.10161 30
Fruit Fly
(Drosophila melanogaster)
 Insecta DNApol-delta 30 31
  • 60.81 (n)
 OneToOne
DNApol-&dgr; 32
  • 58 (a)
Worm
(Caenorhabditis elegans)
 Secernentea F10C2.4 30 31 32
  • 51.42 (n)
 OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_AFL189W 30
  • 53.99 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0E01607g 30
  • 51.29 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes POL3 30 31
  • 50.91 (n)
 OneToOne
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons EMB2780 30
  • 55.09 (n)
Soybean
(Glycine max)
 eudicotyledons Gma.158 30
Rice
(Oryza sativa)
 Liliopsida Os11g0186400 30
  • 54.87 (n)
Os.3738 30
Barley
(Hordeum vulgare)
 Liliopsida Hv.1187 30
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 62 (a)
 OneToOne
Bread mold
(Neurospora crassa)
 Ascomycetes NCU01192 30
  • 58.19 (n)
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes cdc6 30
  • 53.58 (n)
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.5611 30
Species where no ortholog for POLD1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for POLD1 Gene

ENSEMBL:
Gene Tree for POLD1 (if available)
TreeFam:
Gene Tree for POLD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for POLD1: view image

Paralogs for POLD1 Gene

Paralogs for POLD1 Gene

(1) SIMAP similar genes for POLD1 Gene using alignment to 8 proteins:

  • DPOD1_HUMAN
  • M0QXE6_HUMAN
  • M0QXQ2_HUMAN
  • M0QZB4_HUMAN
  • M0QZR8_HUMAN
  • M0R2B7_HUMAN
  • M0R2I8_HUMAN
  • M0R2J2_HUMAN

Pseudogenes.org Pseudogenes for POLD1 Gene

genes like me logo Genes that share paralogs with POLD1: view

Variants for POLD1 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POLD1 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
220966 Benign/Likely Benign: Colorectal cancer 10; not specified 50,417,278(+) CA/TG
NM_002691.4(POLD1):c.3218+9_3218+10inv 		INTRON
548791 Uncertain Significance: Colorectal cancer 10 50,416,458(+) G/GCTGGGGC
NM_002691.4(POLD1):c.2887_2888insGGCCTGG (p.Ala963fs) 		FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT
566099 Uncertain Significance: Colorectal cancer 10 50,402,505(+) TG/CA
NM_002691.4(POLD1):c.810_811inv (p.Gly271Arg) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
834404 Uncertain Significance: Colorectal cancer 10 50,416,657(+) G/A
NM_002691.4(POLD1):c.3001G>A (p.Gly1001Ser) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
834685 Uncertain Significance: Colorectal cancer 10 50,402,653(+) CGT/C
NM_002691.4(POLD1):c.884_885del (p.Val295fs) 		FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for POLD1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for POLD1 Gene

Variant ID Type Subtype PubMed ID
esv2667096 CNV deletion 23128226
esv2718732 CNV deletion 23290073
nsv1066389 CNV gain 25217958
nsv1116342 CNV deletion 24896259
nsv1116668 CNV deletion 24896259
nsv1133010 OTHER inversion 24896259
nsv1140251 OTHER inversion 24896259
nsv1152956 OTHER inversion 26484159

Variation tolerance for POLD1 Gene

Residual Variation Intolerance Score: 23.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.78; 66.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POLD1 Gene

Human Gene Mutation Database (HGMD)
POLD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
POLD1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POLD1 Gene

Disorders for POLD1 Gene

MalaCards: The human disease database

(18) MalaCards diseases for POLD1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search POLD1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DPOD1_HUMAN
  • 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. {ECO:0000269 PubMed:23263490, ECO:0000269 PubMed:24501277}. Note=Disease susceptibility is associated with variants 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. {ECO:0000269 PubMed:23770608}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for POLD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with POLD1: view

No data available for Genatlas for POLD1 Gene

Publications for POLD1 Gene

  1. New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. (PMID: 24501277) Valle L … Blanco I (Human molecular genetics 2014) 3 4 74
  2. An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy. (PMID: 23770608) Weedon MN … Hattersley AT (Nature genetics 2013) 3 4 74
  3. Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. (PMID: 23263490) Palles C … Tomlinson I (Nature genetics 2013) 3 4 74
  4. Primary structure of the catalytic subunit of human DNA polymerase delta and chromosomal location of the gene. (PMID: 1722322) Chung DW … Downey KM (Proceedings of the National Academy of Sciences of the United States of America 1991) 2 3 4
  5. Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer. (PMID: 25370038) Elsayed FA … van Wezel T (European journal of human genetics : EJHG 2015) 3 74

ExternalLinks

View latest publications for POLD1 gene in Mastermind

Products for POLD1 Gene

  • Addgene plasmids for POLD1