Identity
HGNC
LOCATION
19q13.33
LOCUSID
ALIAS
CDC2,CRCS10,MDPL,POLD
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 26133394 | 2016 | POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance. | Bellido F et al |
| 29056344 | 2017 | Comprehensive Analysis of Hypermutation in Human Cancer. | Campbell BB et al |
| 23528559 | 2013 | DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer. | Church DN et al |
| 24583393 | 2014 | Replicative DNA polymerase mutations in cancer. | Heitzer E et al |
| 27320729 | 2016 | POLD1: Central mediator of DNA replication and repair, and implication in cancer and other pathologies. | Nicolas E et al |
| 23263490 | 2013 | Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. | Palles C et al |
| 26822575 | 2016 | A panoply of errors: polymerase proofreading domain mutations in cancer. | Rayner E et al |
| 27974823 | 2016 | Roles of human POLD1 and POLD3 in genome stability. | Tumini E et al |
| 24501277 | 2014 | New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. | Valle L et al |
| 9030545 | 1997 | The human POLD1 gene. Identification of an upstream activator sequence, activation by Sp1 and Sp3, and cell cycle regulation. | Zhao L et al |
Other Information
Locus ID:
NCBI: 5424
MIM: 174761
HGNC: 9175
Ensembl: ENSG00000062822
Variants:
dbSNP: 5424
ClinVar: 5424
TCGA: ENSG00000062822
COSMIC: POLD1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38219146 | 2024 | DNA polymerase ε and δ variants drive mutagenesis in polypurine tracts in human tumors. | 1 |
| 38231514 | 2024 | Race, Prevalence of POLE and POLD1 Alterations, and Survival Among Patients With Endometrial Cancer. | 0 |
| 38423601 | 2024 | POLD1 Is Required for Cell Cycle Progression by Overcoming DNA Damage in Malignant Pleural Mesothelioma. | 1 |
| 38658779 | 2024 | Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells. | 1 |
| 38219146 | 2024 | DNA polymerase ε and δ variants drive mutagenesis in polypurine tracts in human tumors. | 1 |
| 38231514 | 2024 | Race, Prevalence of POLE and POLD1 Alterations, and Survival Among Patients With Endometrial Cancer. | 0 |
| 38423601 | 2024 | POLD1 Is Required for Cell Cycle Progression by Overcoming DNA Damage in Malignant Pleural Mesothelioma. | 1 |
| 38658779 | 2024 | Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells. | 1 |
| 37105989 | 2023 | DNA polymerase POLD1 promotes proliferation and metastasis of bladder cancer by stabilizing MYC. | 3 |
| 37107532 | 2023 | DNA Polymerase Delta Exhibits Altered Catalytic Properties on Lysine Acetylation. | 0 |
| 37990341 | 2023 | Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families. | 0 |
| 37105989 | 2023 | DNA polymerase POLD1 promotes proliferation and metastasis of bladder cancer by stabilizing MYC. | 3 |
| 37107532 | 2023 | DNA Polymerase Delta Exhibits Altered Catalytic Properties on Lysine Acetylation. | 0 |
| 37990341 | 2023 | Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families. | 0 |
| 34285382 | 2022 | Solving the enigma of POLD1 p.V295M as a potential cause of increased cancer risk. | 2 |
Citation
Dessen P
POLD1 (DNA polymerase delta 1, catalytic subunit)
Atlas Genet Cytogenet Oncol Haematol. 2003-02-01
Online version: http://atlasgeneticsoncology.org/gene/41770/pold1
