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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
  • 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
  • CDC2 Homolog (S. Cerevisiae) 2
  • CDC2 Homolog 3
  • EC 3.1.11.- 4
  • EC 2.7.7.7 4
  • CRCS10 3
  • CDC2 3
  • 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 Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome and Colorectal Cancer 10. Among its related pathways are Telomere C-strand (Lagging Strand) Synthesis and Cell Cycle, Mitotic. 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).

Gene Wiki entry for POLD1 Gene

Additional gene information for POLD1 Gene

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
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J050383 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 668.8 +0.4 420 3.2 HDGF PKNOX1 CLOCK SMAD1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 POLD1 NUP62 C19orf81 PTOV1-AS2 PNKP SNORD35A SNORD35B IRF3 ALDH16A1 PRR12
GH19J050414 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 650.3 +33.5 33508 7.1 HDGF SMAD1 SIN3A YBX1 ZNF2 IRF4 CBX5 E2F8 ZNF207 ZNF143 ENSG00000142539 SPIB POLD1 NAPSB KLK3
GH19J050022 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 76.5 -359.4 -359383 4.5 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 SP3 ZNF473 VRK3 POLD1 NUP62 PTOV1-AS2 SNORD35A IRF3 SNORD35B ALDH16A1 PNKP
GH19J050657 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 70.8 +274.8 274757 2.9 HDGF PKNOX1 SMAD1 ARNT SIN3A YBX1 ZNF2 ZBTB7B POLR2B FOS SYT3 POLD1 NUP62 PTOV1-AS2 IRF3 ZNF175 PNKP ENSG00000268047 ZNF473 CTU1
GH19J049486 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 58.4 -894.0 -893964 7.5 ZFP64 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC SSRP1 SNORD35A RPL13A GC19P049514 GC19P049531 GC19P049558 GC19P049559 GC19P049564 GC19P049569 PIR54526 SNORD32A
- 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 UCSC Golden Path with GeneCards custom track

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

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)
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 StructureGene 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
    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).

neXtProt entry for POLD1 Gene

Post-translational modifications for POLD1 Gene

  • Ubiquitination at Lys1087, Lys1039, Lys1007, posLast=998998, Lys964, Lys931, posLast=897897, posLast=885885, Lys796, posLast=750750, Lys738, posLast=710710, Lys653, posLast=648648, posLast=554554, Lys514, Lys439, Lys414, posLast=373373, Lys323, and Lys272
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for POLD1 Gene

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

Suggested Antigen Peptide Sequences for POLD1 Gene

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

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 or abasic sites (PubMed:19074196).
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 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 Induction:
Up-regulated by serum stimulation.
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 Model Products

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • Addgene plasmids 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 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}.

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

Subcellular locations from the

Human Protein Atlas (HPA)

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:0000784 colocalizes_with nuclear chromosome, telomeric region IDA 24270157
GO:0005634 nucleus IEA,IDA 16762037
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with POLD1: view

Pathways & Interactions for POLD1 Gene

SuperPathways for POLD1 Gene

SuperPathway Contained pathways
1 Telomere C-strand (Lagging Strand) Synthesis
2 Mismatch repair
3 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
4 DNA Double-Strand Break Repair
5 Nucleotide excision repair
genes like me logo Genes that share pathways with POLD1: view

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 TAS,IMP 16762037
GO:0006261 DNA-dependent DNA replication IBA --
GO:0006266 DNA ligation TAS --
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

(4) Drugs for POLD1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
dATP Experimental Pharma Full agonist, Agonist 0
dctp Experimental Pharma 0
dgtp Experimental Pharma 0

(2) 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
  • PYROphosphATE
14000-31-8
Thymidine 5'-triphosphate
  • 2'-Deoxythymidine triphosphate
  • 5'-TTP
  • Deoxy-TTP
  • Deoxythymidine 5'-triphosphate
  • Deoxythymidine triphosphate
365-08-2
genes like me logo Genes that share compounds with POLD1: view

Transcripts for POLD1 Gene

Unigene Clusters for POLD1 Gene

Polymerase (DNA directed), delta 1, catalytic subunit:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • Addgene plasmids 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
ECgene alternative splicing isoforms for
POLD1

Expression for POLD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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

NURSA nuclear receptor signaling pathways regulating expression of POLD1 Gene:

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(2.9)
  • Skin(2.5)
  • Nervous system(2.2)
  • 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
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

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 34 33
  • 98.02 (n)
OneToOne
cow
(Bos Taurus)
Mammalia POLD1 34 33
  • 89.81 (n)
OneToOne
dog
(Canis familiaris)
Mammalia POLD1 34 33
  • 88.71 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POLD1 34
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pold1 16 34 33
  • 84.65 (n)
rat
(Rattus norvegicus)
Mammalia Pold1 33
  • 84.38 (n)
lizard
(Anolis carolinensis)
Reptilia POLD1 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pold1 33
  • 67.09 (n)
Str.1564 33
zebrafish
(Danio rerio)
Actinopterygii pold1 34 33
  • 67.31 (n)
OneToOne
iktdsubc_1d11 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10161 33
fruit fly
(Drosophila melanogaster)
Insecta DNApol-delta 34 33
  • 60.81 (n)
OneToOne
DNApol-&dgr; 35
  • 58 (a)
worm
(Caenorhabditis elegans)
Secernentea F10C2.4 34 35 33
  • 51.42 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL189W 33
  • 53.99 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E01607g 33
  • 51.29 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes POL3 34 33
  • 50.91 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons EMB2780 33
  • 55.09 (n)
soybean
(Glycine max)
eudicotyledons Gma.158 33
rice
(Oryza sativa)
Liliopsida Os11g0186400 33
  • 54.87 (n)
Os.3738 33
barley
(Hordeum vulgare)
Liliopsida Hv.1187 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 62 (a)
OneToOne
Cin.5611 33
bread mold
(Neurospora crassa)
Ascomycetes NCU01192 33
  • 58.19 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cdc6 33
  • 53.58 (n)
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)

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

(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

No data available for Paralogs for POLD1 Gene

Variants for POLD1 Gene

Sequence variations from dbSNP and Humsavar 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

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 Assay Products

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

Disorders for POLD1 Gene

MalaCards: The human disease database

(6) 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
  • mdpl
colorectal cancer 10
  • colorectal cancer, susceptibility to, 10
polymerase proofreading-related adenomatous polyposis
  • ppap
breast mucinous carcinoma
  • invasive mucinous breast carcinoma
lynch syndrome
  • colorectal cancer, hereditary nonpolyposis, type 1
- 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 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
genes like me logo Genes that share disorders with POLD1: view

No data available for Genatlas for POLD1 Gene

Publications for POLD1 Gene

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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

  • Addgene plasmids for POLD1

Sources for POLD1 Gene