DNA polymerase delta 1, catalytic subunit
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Diagnostic Grade (Green)
Adult solid tumours cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAdult solid tumours for rare disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownColorectal cancer pertinent cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedCOVID-19 research
BIALLELIC, autosomal or pseudoautosomalDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDiabetes with additional phenotypes suggestive of a monogenic aetiology
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFamilial diabetes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedGI tract tumours
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted+8 more panels — install the extension to see the full list inline on any page.
mandibular hypoplasia-deafness-progeroid syndrome
non-small cell lung carcinoma
acute lymphoblastic leukemia
colorectal cancer
acute myeloid leukemia
B-cell chronic lymphocytic leukemia
colorectal cancer, susceptibility to, 10
exocrine pancreatic carcinoma
breast carcinoma
neoplasm
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
DNA polymerase delta catalytic subunit
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 (PubMed:16510448, PubMed:19074196, PubMed:20334433, PubMed:24022480, PubMed:24035200, PubMed:31449058). Exhibits both DNA polymerase and 3'- to 5'-exonuclease activities (PubMed:16510448, PubMed:19074196, PubMed:20334433, PubMed:24022480, PubMed:24035200). 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)
Curated MONDO disease pages that list POLD1 among their top associated genes.
POLD1 · P28340
Mean pLDDT
86.7/ 100
Confident
1,107 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
