POLD1
Sign in to saveAlso known as CDC2, CRCS10, MDPL, POLD, polymerase (DNA) delta 1, catalytic subunit, DNA polymerase delta 1, catalytic subunit
DNA polymerase delta catalytic subunit (DPOD1) is an enzyme that is encoded in the human by the POLD1 gene, in the DNA polymerase delta complex. DPOD1 is responsible for synthesizing the lagging strand of DNA, and has also been implicated in some activities at the leading strand (Figure 1). The DPOD1 subunit encodes both DNA polymerizing and exonuclease domains, which provide the protein an important second function in proofreading to ensure replication accuracy during DNA synthesis, and in a number of types of replication-linked DNA repair following DNA damage.
Gene data
POLD1- Name
- DNA polymerase delta 1, catalytic subunit
- Type
- protein-coding
- Position
- 50,384,204–50,418,018 (+)
- Aliases
- CDC2, CRCS10, IMD120, MDPL, POLD
- Ensembl
- ENSG00000062822
- RefSeq RNA
- NM_001256849.1, NM_001308632.1, NM_001438210.1, NM_001438211.1, NM_001438212.1
- RefSeq protein
- NP_001243778.1, NP_001295561.1, NP_001425139.1, NP_001425140.1, NP_001425141.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
DNA polymerase delta 1, catalytic subunit
- Symbol
- POLD1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 19:50,384,204-50,418,018
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 2014
- genomic start
- 50887461
- exact match
- identifiers.org/ncbigene/5424
- genomic end
- 50418018
- cytogenetic location
- 19q13.33
Sources (6)
via Wikidata · CC0
~23 min read
Article
14 sectionsContents
- Discovery
- Gene
- Protein
- Expression and regulation
- Function
- DNA replication
- DNA Repair
- Clinical significance
- Cancer
- MDPL
- Cancer risk assessment and commercial testing
- Notes
- References
- External links
DNA polymerase delta catalytic subunit (DPOD1) is an enzyme that is encoded in the human by the POLD1 gene, in the DNA polymerase delta complex. DPOD1 is responsible for synthesizing the lagging strand of DNA, and has also been implicated in some activities at the leading strand (Figure 1). The DPOD1 subunit encodes both DNA polymerizing and exonuclease domains, which provide the protein an important second function in proofreading to ensure replication accuracy during DNA synthesis, and in a number of types of replication-linked DNA repair following DNA damage.
Germline mutations impairing activity of POLD1 have been implicated in several types of hereditary cancer, in some sporadic cancers, and in a developmental syndrome of premature aging, Mandibular hypoplasia, Deafness, and Progeroid features and Lipodystrophy (MDPL/MDP syndrome). Studies of POLD1 emphasize the importance of maintaining genomic stability to limit tumorigenesis. It is currently unclear whether the enhanced tumorigenesis associated with POLD1 defects is the result of increased base substitutions or due to fork collapse and production of DNA double strand breaks (DSBs). Recent reviews have addressed important functions of POLD1.