Property Summary

NCBI Gene PubMed Count 80
PubMed Score 96.60
PubTator Score 226.45

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
malignant mesothelioma 2.000 1.0e-06
psoriasis 3.100 1.2e-05
group 3 medulloblastoma 2.300 2.6e-07
atypical teratoid / rhabdoid tumor 1.500 5.3e-09
medulloblastoma, large-cell 2.100 4.3e-05
primitive neuroectodermal tumor 1.200 7.0e-03
lung adenocarcinoma 1.200 1.9e-09

 GWAS Trait (1)

Gene RIF (39)

PMID Text
26748215 Mutations in POLE and POLD1 in south east Asia women with grade 3 endometrioid endometrial carcinomas are associated with improved recurrence free survival.
26271349 On the sequence, Escherichia coli oriC plasmid DNA, it was found hPold replicates DNA across the CCG repeats but hPole stalls at the CCG repeats even if the secondary structure is eliminated by a single stranded binding protein.
26172944 POLD1 germline mutations can result in a variably expressed and probably underdiagnosed segmental progeroid syndrome.
26087769 POLD1 plays important role in the regulation of cell cycle progression and DNA damage repair
25370038 None of the 1188 patients carried the POLD1 p.(Ser478Asn) variant. POLE germline variant carriers are also associated with a microsatellite instable colorectal cancer
25241845 analysis of phenotype of variants of the essential replicative polymerase-delta carrying missense mutations in its active site
24509466 Germline mutations in the proofreading domains of 2 DNA polymerases (POLE and POLD1) have been associated with a dominantly inherited, highly penetrant syndrome of oligo adenomatous polyposis and early-age-of-diagnosis colorectal and endometrial cancer.
24501277 POLE and POLD1 mutations explain a fraction of familial CRC and polyposis. Sequencing the proofreading domains of POLE and POLD1 should be considered in routine genetic diagnostics.
23770608 a single-codon deletion in POLD1 affecting the polymerase active site causes a markedly different phenotype that includes lipodystrophy.
23585564 coordinated processing of 3'-slipped (CAG)n/(CTG)n hairpins by polymerases delta and beta on during DNA synthesis induces CAG/CTG repeat expansions.
23528559 POLE and POLD1 mutations are associated with endometrial cancer.
23447401 Germline and somatic polymerase epsilon and delta mutations define a new class of hypermutated colorectal and endometrial cancers.
23263490 Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.
22942285 the human lagging strand DNA polymerase delta holoenzyme is distributive
22915169 the down-regulations of DNA pol delta1 are age-related and have little bearing on diseases and nutritures. DNA pol delta1 has great potential for a new biomarker of aging.
22887995 Pol epsilon and Pol alpha/delta seem to pursue their functions at least in part independently in late S phase
22761421 reducing expression of individual PRMT7 target DNA repair genes showed that only the catalytic subunit of DNA polymerase, POLD1, was able to resensitize PRMT7 knock-down cells to DNA-damaging agents.
22465957 Pol switches at replication-blocking lesions occur by the exchange of the Pol delta and Pol zeta catalytic subunits on a preassembled complex of accessory proteins retained on DNA during translesion DNA synthesis.
21918226 Coronavirus nsp13 and DNA polymerase delta induced DNA replication stress in IBV-infected cells.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20574454 Observational study of gene-disease association. (HuGE Navigator)
20522537 Observational study of gene-disease association. (HuGE Navigator)
20496165 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20226869 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19692168 Observational study of gene-disease association. (HuGE Navigator)
19625176 Observational study of gene-disease association. (HuGE Navigator)
19557333 Results suggest that the CDE/CHR-like sequence is an active functional element in the POLD1 promoter, which is important for the cell cycle regulation of the POLD1 gene.
19329428 Abasic sites can also affect the strand displacement activity of the lagging strand DNA pol delta that can be overcome through a polymerase switch, involving the combined physical and functional interaction of DNA pol beta and Flap endonuclease 1.
19237606 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
19170196 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
18701435 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18676680 Observational study of gene-disease association. (HuGE Navigator)
18270339 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
17203305 Observational study of gene-disease association. (HuGE Navigator)
16934752 ubiquitin and ubiquitin-like proteins modify the p66 and p12 subunits of DNA polymerase delta
15113441 Observational study of gene-disease association. (HuGE Navigator)
14767555 POLD1 gene mutations are not responsible for the elevated HPRT mutation rates in a colon cancer cell line
11923315 Repair of clustered DNA lesions

AA Sequence

MDGKRRPGPGPGVPPKRARGGLWDDDDAPRPSQFEEDLALMEEMEAEHRLQEQEEEELQSVLEGVADGQV      1 - 70
PPSAIDPRWLRPTPPALDPQTEPLIFQQLEIDHYVGPAQPVPGGPPPSRGSVPVLRAFGVTDEGFSVCCH     71 - 140
IHGFAPYFYTPAPPGFGPEHMGDLQRELNLAISRDSRGGRELTGPAVLAVELCSRESMFGYHGHGPSPFL    141 - 210
RITVALPRLVAPARRLLEQGIRVAGLGTPSFAPYEANVDFEIRFMVDTDIVGCNWLELPAGKYALRLKEK    211 - 280
ATQCQLEADVLWSDVVSHPPEGPWQRIAPLRVLSFDIECAGRKGIFPEPERDPVIQICSLGLRWGEPEPF    281 - 350
LRLALTLRPCAPILGAKVQSYEKEEDLLQAWSTFIRIMDPDVITGYNIQNFDLPYLISRAQTLKVQTFPF    351 - 420
LGRVAGLCSNIRDSSFQSKQTGRRDTKVVSMVGRVQMDMLQVLLREYKLRSYTLNAVSFHFLGEQKEDVQ    421 - 490
HSIITDLQNGNDQTRRRLAVYCLKDAYLPLRLLERLMVLVNAVEMARVTGVPLSYLLSRGQQVKVVSQLL    491 - 560
RQAMHEGLLMPVVKSEGGEDYTGATVIEPLKGYYDVPIATLDFSSLYPSIMMAHNLCYTTLLRPGTAQKL    561 - 630
GLTEDQFIRTPTGDEFVKTSVRKGLLPQILENLLSARKRAKAELAKETDPLRRQVLDGRQLALKVSANSV    631 - 700
YGFTGAQVGKLPCLEISQSVTGFGRQMIEKTKQLVESKYTVENGYSTSAKVVYGDTDSVMCRFGVSSVAE    701 - 770
AMALGREAADWVSGHFPSPIRLEFEKVYFPYLLISKKRYAGLLFSSRPDAHDRMDCKGLEAVRRDNCPLV    771 - 840
ANLVTASLRRLLIDRDPEGAVAHAQDVISDLLCNRIDISQLVITKELTRAASDYAGKQAHVELAERMRKR    841 - 910
DPGSAPSLGDRVPYVIISAAKGVAAYMKSEDPLFVLEHSLPIDTQYYLEQQLAKPLLRIFEPILGEGRAE    911 - 980
AVLLRGDHTRCKTVLTGKVGGLLAFAKRRNCCIGCRTVLSHQGAVCEFCQPRESELYQKEVSHLNALEER    981 - 1050
FSRLWTQCQRCQGSLHEDVICTSRDCPIFYMRKKVRKDLEDQEQLLRRFGPPGPEAW                1051 - 1107
//

Text Mined References (83)

PMID Year Title
26748215 2016 Mutation spectrum of POLE and POLD1 mutations in South East Asian women presenting with grade 3 endometrioid endometrial carcinomas.
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
26271349 2015 Short CCG repeat in huntingtin gene is an obstacle for replicative DNA polymerases, potentially hampering progression of replication fork.
26172944 2015 POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.
26087769 2015 Human POLD1 modulates cell cycle progression and DNA damage repair.
25370038 2015 Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer.
25241845 2014 Phenotypic characterization of missense polymerase-? mutations using an inducible protein-replacement system.
24939902 2014 CBP and p300 acetylate PCNA to link its degradation with nucleotide excision repair synthesis.
24509466 2014 Polymerase proofreading-associated polyposis: a new, dominantly inherited syndrome of hereditary colorectal cancer predisposition.
24501277 2014 New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis.
24270157 2013 A quantitative telomeric chromatin isolation protocol identifies different telomeric states.
24129315 2014 Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.
23770608 2013 An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy.
23738518 2013 A genome-wide association study for reading and language abilities in two population cohorts.
23585564 2013 Coordinated processing of 3' slipped (CAG)n/(CTG)n hairpins by DNA polymerases ? and ? preferentially induces repeat expansions.
23528559 2013 DNA polymerase ? and ? exonuclease domain mutations in endometrial cancer.
23447401 2013 Germline and somatic polymerase ? and ? mutations define a new class of hypermutated colorectal and endometrial cancers.
23263490 2013 Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
22942285 2012 The human lagging strand DNA polymerase ? holoenzyme is distributive.
22915169 2012 Age-dependent down-regulation of DNA polymerase ?1 in human lymphocytes.
22887995 2012 Segregation of replicative DNA polymerases during S phase: DNA polymerase ?, but not DNA polymerases ?/?, are associated with lamins throughout S phase in human cells.
22761421 2012 Protein arginine methyltransferase 7 regulates cellular response to DNA damage by methylating promoter histones H2A and H4 of the polymerase ? catalytic subunit gene, POLD1.
22465957 2012 DNA polymerase ? and ? switch by sharing accessory subunits of DNA polymerase ?.
21918226 2011 Coronavirus infection induces DNA replication stress partly through interaction of its nonstructural protein 13 with the p125 subunit of DNA polymerase ?.
21269460 2011 Initial characterization of the human central proteome.
21044950 2011 Genome-wide YFP fluorescence complementation screen identifies new regulators for telomere signaling in human cells.
20713449 2010 Replication factor C recruits DNA polymerase delta to sites of nucleotide excision repair but is not required for PCNA recruitment.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20574454 2010 Polymorphisms in the base excision repair pathway and graft-versus-host disease.
20496165 2011 Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk.
20227374 2010 Three DNA polymerases, recruited by different mechanisms, carry out NER repair synthesis in human cells.
20226869 2010 Association between genetic variants in the base excision repair pathway and outcomes after hematopoietic cell transplantations.
20070946 2010 The glycine-rich motif of Pyrococcus abyssi DNA polymerase D is critical for protein stability.
19946888 2010 Defining the membrane proteome of NK cells.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19692168 2010 Genetic susceptibility to distinct bladder cancer subphenotypes.
19625176 2009 PTEN identified as important risk factor of chronic obstructive pulmonary disease.
19557333 2009 Identification and functional analysis of a CDE/CHR element in the POLD1 promoter.
19329428 2009 The block of DNA polymerase delta strand displacement activity by an abasic site can be rescued by the concerted action of DNA polymerase beta and Flap endonuclease 1.
19237606 2009 Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk.
19170196 2009 Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
18701435 2008 Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk.
18676680 2008 Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18270339 2008 Comprehensive analysis of DNA repair gene variants and risk of meningioma.
17474147 2007 Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
17203305 2007 Genetic variation in the base excision repair pathway and bladder cancer risk.
16934752 2006 The p66 and p12 subunits of DNA polymerase delta are modified by ubiquitin and ubiquitin-like proteins.
16762037 2006 Distinctive activities of DNA polymerases during human DNA replication.
16510448 2006 Functional roles of p12, the fourth subunit of human DNA polymerase delta.
15805117 2005 Proliferating cell nuclear antigen (PCNA) may function as a double homotrimer complex in the mammalian cell.
15670210 2005 Human Werner helicase interacting protein 1 (WRNIP1) functions as a novel modulator for DNA polymerase delta.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15113441 2004 Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes.
14767555 2004 Effect of exogenous MSH6 and POLD1 expression on the mutation rate of the HPRT locus in a human colon cancer cell line with mutator phenotype, DLD-1.
12806015 2002 The TREX2 3'-->5' exonuclease physically interacts with DNA polymerase delta and increases its accuracy.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12403614 2002 Reconstitution and characterization of the human DNA polymerase delta four-subunit holoenzyme.
12393188 2002 Ku antigen, an origin-specific binding protein that associates with replication proteins, is required for mammalian DNA replication.
12220650 2002 Control of complex formation of DNA polymerase alpha-primase and cell-free DNA replication by the C-terminal amino acids of the largest subunit p180.
12171929 2002 A proteomics approach to identify proliferating cell nuclear antigen (PCNA)-binding proteins in human cell lysates. Identification of the human CHL12/RFCs2-5 complex as a novel PCNA-binding protein.
11923315 2002 Repair of clustered DNA lesions. Sequence-specific inhibition of long-patch base excision repair be 8-oxoguanine.
11473323 2001 RPA governs endonuclease switching during processing of Okazaki fragments in eukaryotes.
10852724 2000 Evidence that DNA polymerase delta isolated by immunoaffinity chromatography exhibits high-molecular weight characteristics and is associated with the KIAA0039 protein and RPA.
10559261 1999 Reconstitution of proliferating cell nuclear antigen-dependent repair of apurinic/apyrimidinic sites with purified human proteins.
10559260 1999 Long patch base excision repair with purified human proteins. DNA ligase I as patch size mediator for DNA polymerases delta and epsilon.
9620226 1997 Evidence for reduced copying fidelity of DNA polymerases alpha, delta, and epsilon from Novikoff hepatoma cells.
9563011 1997 Mapping specific protein-protein interactions within the core component of the breast cell DNA synthesome.
9545286 1998 Characterization of the p125 subunit of human DNA polymerase delta and its deletion mutants. Interaction with cyclin-dependent kinase-cyclins.
9286699 1997 Cloning, chromosomal localization, and interspecies interaction of mouse DNA polymerase delta small subunit (PolD2).
9111189 1997 Which DNA polymerases are used for DNA-repair in eukaryotes?
9030545 1997 The human POLD1 gene. Identification of an upstream activator sequence, activation by Sp1 and Sp3, and cell cycle regulation.
8889549 1996 Generation and analysis of 280,000 human expressed sequence tags.
7490075 1995 Structure of the gene for the catalytic subunit of human DNA polymerase delta (POLD1).
3335506 1988 DNA repair synthesis in human fibroblasts requires DNA polymerase delta.
3146346 1988 Involvement of DNA polymerase delta in DNA repair synthesis in human fibroblasts at late times after ultraviolet irradiation.
2436659 1987 Human placental DNA polymerase delta: identification of a 170-kilodalton polypeptide by activity staining and immunoblotting.
1730053 1992 The function of DNA polymerases in DNA repair synthesis of ultraviolet-irradiated human fibroblasts.
1722322 1991 Primary structure of the catalytic subunit of human DNA polymerase delta and chromosomal location of the gene.
1542570 1992 Molecular cloning of the cDNA for the catalytic subunit of human DNA polymerase delta.
1427831 1992 Human DNA polymerase delta gene maps to region 19q13.3-q13.4 by in situ hybridization.