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 Subunit Delta P125 3 4
- EC 2.7.7.7 4 56
- POLD 3 4
- Polymerase (DNA Directed), Delta 1, Catalytic Subunit (125kD) 2
- Polymerase (DNA Directed), Delta 1, Catalytic Subunit 125kDa 3
- DNA Polymerase Delta Catalytic Subunit 3
External Ids for POLD1 Gene
- HGNC: 9175
- Entrez Gene: 5424
- Ensembl: ENSG00000062822
- OMIM: 174761
- UniProtKB: P28340
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
-
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 (DNA Polymerase Delta 1, Catalytic Subunit) is a Protein Coding gene. Diseases associated with POLD1 include Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome and Colorectal Cancer 10. Among its related pathways are Mismatch repair and Telomere C-strand (Lagging Strand) Synthesis. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and chromatin binding.
UniProtKB/Swiss-Prot 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 or abasic sites (PubMed:19074196).
Additional gene information for POLD1 Gene
- Monarch Initiative
- Search for POLD1 at DataMed
- Search for POLD1 at HumanCyc
No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POLD1 Gene
Genomics for POLD1 Gene
GeneHancer (GH) Regulatory Elements for POLD1 Gene
Promoters and enhancers for POLD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around POLD1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for POLD1 Gene
Genomic Locations for POLD1 Gene
- chr19:50,384,204-50,418,018
- (GRCh38/hg38)
- Size:
- 33,815 bases
- Orientation:
- Plus strand
- chr19:50,887,461-50,921,273
- (GRCh37/hg19)
Genomic View for POLD1 Gene
Genes around POLD1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19q13.33 by Ensembl
- 19q13.33 by Entrez Gene
- 19q13.3 by HGNC
POLD1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for POLD1 Gene
Proteins for POLD1 Gene
-
Protein details for POLD1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P28340-DPOD1_HUMAN
- Recommended name:
- DNA polymerase delta catalytic subunit
- Protein Accession:
- P28340
- 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).
Protein Expression for POLD1 Gene
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 isoforms=272, isoforms=323, isoforms=373, Lys414, isoforms=439, isoforms=514, isoforms=554, Lys648, Lys653, isoforms=710, isoforms=738, Lys750, Lys796, isoforms=885, isoforms=897, Lys931, isoforms=964, Lys998, isoforms=1007, isoforms=1039, and Lys1087
Other Protein References for POLD1 Gene
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for POLD1
- Novus Biologicals Antibodies for POLD1
-
Abcam antibodies for POLD1
-
Cloud-Clone Corp. Antibodies for POLD1
- Invitrogen Antibodies for POLD1
- GeneTex POLD1 antibody for POLD1
-
Santa Cruz Biotechnology (SCBT) Antibodies for POLD1
Protein Products
-
OriGene Purified Proteins for POLD1
- Search Origene for MassSpec and Protein Over-expression Lysates for POLD1
- Origene Custom Protein Services for POLD1
-
Cloud-Clone Corp. Proteins for POLD1
- Search GeneTex for Proteins for POLD1
-
Abcam proteins for POLD1
Assay Products
-
Cloud-Clone Corp. Assay Kits for POLD1
- antibodies-online: Search results for 1 available POLD1 Elisa Kits ranked by validation data
- Compare Top POLD1 Elisa Kits
-
Recommended
Domains & Families for POLD1 Gene
Gene Families for POLD1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Plasma proteins
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for POLD1 Gene
Suggested Antigen Peptide Sequences for POLD1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P28340UniProtKB/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.
Function for POLD1 Gene
Molecular function for POLD1 Gene
- 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
- 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 CatalyticActivity:
- Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).
- 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).
- 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 or abasic sites (PubMed:19074196).
- UniProtKB/Swiss-Prot Induction:
- Up-regulated by serum stimulation.
Enzyme Numbers (IUBMB) for POLD1 Gene
Phenotypes From GWAS Catalog 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 | IDA,IEA | 16762037 |
| GO:0003682 | chromatin binding | IDA | 16762037 |
| GO:0003684 | damaged DNA binding | IDA | 24939902 |
Phenotypes for POLD1 Gene
- MGI mutant phenotypes for POLD1:
- inferred from 6 alleles
- GenomeRNAi human phenotypes for POLD1:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for POLD1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for POLD1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for POLD1 gene
- Search ViGene Biosciences for POLD1
CRISPR Products
-
OriGene CRISPR knockouts for POLD1
- genomics-online: gRNA clones - Search results for available POLD1 gene related products
- Applied Biological Materials CRISPR for POLD1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for POLD1
- GenScript: Design CRISPR guide RNA sequences for POLD1
miRNA for POLD1 Gene
- miRTarBase miRNAs that target POLD1
miRNA Products
- Search ViGene Biosciences for POLD1
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for POLD1
- Browse OriGene Inhibitory RNA Products For POLD1
- genomics-online: shRNA clones - Search results for available POLD1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for POLD1 gene
Clone Products
- Sino Biological Human cDNA Clone for POLD1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for POLD1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for POLD1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for POLD1
- genomics-online: cdna clones - Search results for available POLD1 gene related products
- orf clones - Search results for available POLD1 gene related products
- Applied Biological Materials Clones for POLD1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for POLD1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for POLD1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for POLD1 gene
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 recruitement 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}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000109 | nucleotide-excision repair complex | IDA | 20713449 |
| GO:0000784 | colocalizes_with nuclear chromosome, telomeric region | IDA | 24270157 |
| GO:0005634 | nucleus | IEA,IDA | 16762037 |
| GO:0005654 | nucleoplasm | TAS,IDA | -- |
| GO:0005829 | cytosol | IDA | -- |
Pathways & Interactions for POLD1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Telomere C-strand (Lagging Strand) Synthesis |
.67
|
|
| 2 | Mismatch repair |
.54
.01
|
.01
|
| 3 | Transcription-Coupled Nucleotide Excision Repair (TC-NER) | ||
| 4 | DNA Double-Strand Break Repair |
.53
|
|
| 5 | Nucleotide excision repair | ||
Pathways by source for POLD1 Gene
4 BioSystems pathways for POLD1 Gene
43 Reactome pathways for POLD1 Gene
9 KEGG pathways for POLD1 Gene
1 GeneGo (Thomson Reuters) pathway for POLD1 Gene
4 Qiagen pathways for POLD1 Gene
Interacting Proteins for POLD1 Gene
Selected Interacting proteins:
ENSP00000406046
P28340-DPOD1_HUMAN
for POLD1 Gene via
STRING
MINT
IID
UniProtKB
| 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 | IMP,IEA | 16762037 |
| GO:0006266 | DNA ligation | TAS | -- |
| GO:0006281 | DNA repair | TAS | 3146346 |
No data available for SIGNOR curated interactions for POLD1 Gene
Drugs & Compounds for POLD1 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| pyrophosphate |
|
14000-31-8 |
|
|||
| Thymidine 5'-triphosphate |
|
365-08-2 |
|
Transcripts for POLD1 Gene
mRNA/cDNA for POLD1 Gene
- (7) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (214) Selected AceView cDNA sequences:
- (14) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for POLD1 Gene
- Polymerase (DNA directed), delta 1, catalytic subunit:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for POLD1
- genomics-online: gRNA clones - Search results for available POLD1 gene related products
- Applied Biological Materials CRISPR for POLD1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for POLD1
- GenScript: Design CRISPR guide RNA sequences for POLD1
miRNA Products
- Search ViGene Biosciences for POLD1
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for POLD1
- Browse OriGene Inhibitory RNA Products For POLD1
- genomics-online: shRNA clones - Search results for available POLD1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for POLD1 gene
Clone Products
- Sino Biological Human cDNA Clone for POLD1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for POLD1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for POLD1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for POLD1
- genomics-online: cdna clones - Search results for available POLD1 gene related products
- orf clones - Search results for available POLD1 gene related products
- Applied Biological Materials Clones for POLD1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: | - |
Expression 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, PaxDb, MaxQB, and MOPED for POLD1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of POLD1 Gene:
POLD1SOURCE GeneReport for Unigene cluster for POLD1 Gene:
Hs.279413mRNA 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)
- Skin(2.5)
- Nervous system(2.1)
- Lung(2)
- Lymph node(2)
- Pancreas(2)
- Thyroid gland(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
Organs:
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
Primer Products
-
OriGene qPCR primer pairs and template standards for POLD1
-
OriGene qPCR primer pairs for POLD1
- genomics-online: primer clones - Search results for available POLD1 gene related products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | POLD1 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | POLD1 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | POLD1 33 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | POLD1 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Pold1 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Pold1 33 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | POLD1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pold1 33 |
|
||
| Str.1564 33 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | pold1 33 34 |
|
||
| iktdsubc_1d11 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10161 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | DNApol-delta 33 34 |
|
||
| DNApol-dgr 35 |
|
|
|||
| worm (Caenorhabditis elegans) |
Secernentea | F10C2.4 35 33 34 |
|
||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AFL189W 33 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E01607g 33 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | POL3 33 34 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | EMB2780 33 |
|
||
| soybean (Glycine max) |
eudicotyledons | Gma.158 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os11g0186400 33 |
|
||
| Os.3738 33 |
|
||||
| barley (Hordeum vulgare) |
Liliopsida | Hv.1187 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne | |
| bread mold (Neurospora crassa) |
Ascomycetes | NCU01192 33 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | cdc6 33 |
|
||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.5611 33 |
|
- 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)
Paralogs for POLD1 Gene
(1) SIMAP similar genes for POLD1 Gene using alignment to 8 proteins:
Pseudogenes.org Pseudogenes for POLD1 Gene
No data available for Paralogs for POLD1 Gene
Variants for POLD1 Gene
| SNP ID | Clin | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1001555540 | likely-benign, uncertain-significance, not specified, Colorectal cancer 10 | 50,413,888(+) | C/G | downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant | |
| rs1004124075 | uncertain-significance, Colorectal cancer 10, Hereditary cancer-predisposing syndrome | 50,406,300(+) | G/A/C | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs1004191319 | uncertain-significance, Colorectal cancer 10, not specified, Hereditary cancer-predisposing syndrome | 50,406,426(+) | A/G | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs1011628932 | uncertain-significance, Colorectal cancer 10 | 50,415,816(+) | T/A/G | coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant | |
| rs1017934812 | likely-benign, Hereditary cancer-predisposing syndrome | 50,402,493(+) | G/A | coding_sequence_variant, non_coding_transcript_variant, synonymous_variant |
| 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 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POLD1 Gene
Disorders for POLD1 Gene
(7) MalaCards diseases for POLD1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome |
|
|
| colorectal cancer 10 |
|
|
| polymerase proofreading-related adenomatous polyposis |
|
|
| breast mucinous carcinoma |
|
|
| lynch syndrome |
|
|
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 variations affecting the gene represented in this entry.
- Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) [MIM:615381]: An autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, metabolic abnormalities including insulin resistance and diabetes mellitus, sclerodermatous skin, and a facial appearance characterized by mandibular hypoplasia. Sensorineural deafness occurs late in the first or second decades of life. {ECO:0000269 PubMed:23770608}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for POLD1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for POLD1 Gene
Publications for POLD1 Gene
- 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 58
- 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 58
- CBP and p300 acetylate PCNA to link its degradation with nucleotide excision repair synthesis. (PMID: 24939902) Cazzalini O … Prosperi E (Nucleic acids research 2014) 3 4 58
- 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 58
- 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 58
Products for POLD1 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for POLD1
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for POLD1
- Search Origene for MassSpec and Protein Over-expression Lysates for POLD1
- Origene Custom Protein Services for POLD1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for POLD1
- Browse OriGene Inhibitory RNA Products For POLD1
- OriGene qPCR primer pairs and template standards for POLD1
- OriGene qPCR primer pairs for POLD1
- OriGene CRISPR knockouts for POLD1
- OriGene ORF clones in human for POLD1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For POLD1
- GenScript: Next-day shipping of latest version cDNA ORF clones for POLD1 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for POLD1
- GenScript Custom Assay Services for POLD1
- GenScript Custom overexpressing Cell Line Services for POLD1
- GenScript: Design CRISPR guide RNA sequences for POLD1
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for POLD1
- Sino Biological Human cDNA Clone for POLD1
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
- Browse Sino Biological ELISA Pair Sets
- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for POLD1
- Novus Biologicals lysates and proteins for POLD1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Abcam antibodies for POLD1
- Abcam proteins for POLD1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Cloud-Clone Corp. Antibodies for POLD1
- Cloud-Clone Corp. Proteins for POLD1
- Cloud-Clone Corp. Assay Kits for POLD1
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for POLD1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Cyagen custom Knockout/knockin (KOKI) mouse models for POLD1
- VectorBuilder custom plasmid, inducible vectors for POLD1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for POLD1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for POLD1
- antibodies-online: Search results for 78 available POLD1 Antibodies ranked by validation data
- Compare Top POLD1 Antibodies
- antibodies-online: Search results for 1 available POLD1 Elisa Kits ranked by validation data
- Compare Top POLD1 Elisa Kits
- Recommended
- antibodies-online: Search results for 4 available POLD1 Proteins ranked by validation data
- Compare Top POLD1 Proteins
- GeneTex POLD1 antibody for POLD1
- Search GeneTex for Proteins for POLD1
- ViGene Biosciences adenoviral particle packaged cDNA for POLD1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for POLD1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for POLD1 gene
- Search ViGene Biosciences for POLD1
- Santa Cruz Biotechnology (SCBT) Antibodies for POLD1
- Search Santa Cruz Biotechnology (SCBT) for POLD1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for POLD1
- genomics-online: cdna clones - Search results for available POLD1 gene related products
- orf clones - Search results for available POLD1 gene related products
- genomics-online: gRNA clones - Search results for available POLD1 gene related products
- genomics-online: primer clones - Search results for available POLD1 gene related products
- genomics-online: shRNA clones - Search results for available POLD1 gene related products
Sources for POLD1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76)