POLD1

POLD1
Identifiers
Aliases	POLD1, CDC2, CRCS10, MDPL, POLD, polymerase (DNA) delta 1, catalytic subunit, DNA polymerase delta 1, catalytic subunit
External IDs	OMIM: 174761 MGI: 97741 HomoloGene: 2014 GeneCards: POLD1
Gene location (Human)
Chr.	Chromosome 19 (human)
End	50,418,018 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	44,198,273 bp
RNA expression pattern
	Top expressed in
	spleen; ; ganglionic eminence; ; right lobe of thyroid gland; ; left lobe of thyroid gland; ; bone marrow; ; upper lobe of left lung; ; lymph node; ; blood; ; right uterine tube; ; bone marrow cells;
	Top expressed in
	internal carotid artery; ; renal corpuscle; ; external carotid artery; ; condyle; ; medullary collecting duct; ; fossa; ; Paneth cell; ; primitive streak; ; ureter; ; abdominal wall;
	More reference expression data
	More reference expression data
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; 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; fatty acid homeostasis; DNA mismatch repair; translesion synthesis; transcription-coupled nucleotide-excision repair; nucleotide-excision repair, DNA incision; telomere maintenance; response to UV; 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; telomere maintenance via semi-conservative replication; DNA-dependent DNA replication;
	Sources:Amigo / QuickGO
Orthologs
	5424
	18971
	ENSG00000062822
	ENSMUSG00000038644
	P28340
	P52431
	NM_001256849; NM_001308632; NM_002691
	NM_011131
	NP_001243778; NP_001295561; NP_002682
	NP_035261
	Wikidata
View/Edit Human	View/Edit Mouse

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.

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