POLD1

POLD1
Identifiers
Aliases	POLD1, CDC2, CRCS10, MDPL, POLD, polymerase (DNA) delta 1, catalytic subunit, DNA polymerase delta 1, catalytic subunit
External IDs	MGI: 97741 HomoloGene: 2014 GeneCards: POLD1
Gene ontology Molecular function • transferase activity • nucleotide binding • DNA binding • 4 iron, 4 sulfur cluster binding • nucleotidyltransferase activity • iron-sulfur cluster binding • chromatin binding • metal ion binding • damaged DNA binding • protein binding • 3'-5' exonuclease activity • 3'-5'-exodeoxyribonuclease activity • nucleic acid binding • DNA-directed DNA polymerase activity • nuclease activity • exonuclease activity • hydrolase activity Cellular component • membrane • nucleoplasm • aggresome • nucleotide-excision repair complex • nucleus • nuclear chromosome, telomeric region • delta DNA polymerase complex • cytosol Biological process • nucleotide-excision repair, DNA gap filling • DNA synthesis involved in DNA repair • cellular response to UV • DNA replication • telomere maintenance via recombination • fatty acid homeostasis • mismatch repair • translesion synthesis • transcription-coupled nucleotide-excision repair • nucleotide-excision repair, DNA incision • telomere maintenance • response to UV • DNA damage response, detection of DNA damage • nucleotide-excision repair, DNA incision, 5'-to lesion • DNA ligation • DNA repair • cellular response to DNA damage stimulus • base-excision repair, gap-filling • DNA replication proofreading Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	5424	18971
Ensembl	ENSG00000062822	ENSMUSG00000038644
UniProt	P28340	P52431
RefSeq (mRNA)	NM_001256849 NM_001308632 NM_002691	NM_011131
RefSeq (protein)	NP_001243778 NP_001295561 NP_002682	NP_035261.3 NP_035261
Location (UCSC)	Chr 19: 50.38 – 50.42 Mb	Chr 7: 44.53 – 44.55 Mb
PubMed search

5424

18971

ENSG00000062822

ENSMUSG00000038644

P28340

P52431

NM_001256849
NM_001308632
NM_002691

NM_011131

NP_001243778
NP_001295561
NP_002682

NP_035261.3
NP_035261

The gene polymerase delta 1 (POLD1) encodes the large, POLD1/p125, catalytic subunit of the DNA polymerase delta (Polδ) complex. The Polδ enzyme is responsible for synthesizing the lagging strand of DNA, and has also been implicated in some activities at the leading strand (Figure 1). The POLD1/p125 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 and Polδ.

...
Wikipedia