Aliases for POLD1 Gene
External Ids for POLD1 Gene
Previous HGNC Symbols for POLD1 Gene
Previous GeneCards Identifiers for POLD1 Gene
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]
GeneCards Summary for POLD1 Gene
POLD1 (Polymerase (DNA) Delta 1, Catalytic Subunit) is a Protein Coding gene. Diseases associated with POLD1 include mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome and colorectal cancer 10. Among its related pathways are Telomere C-strand (Lagging Strand) Synthesis and DNA strand elongation. GO annotations related to this gene include nucleic acid binding and chromatin binding.
UniProtKB/Swiss-Prot for POLD1 Gene
Possesses two enzymatic activities: DNA synthesis (polymerase) and an exonucleolytic activity that degrades single stranded DNA in the 3- to 5-direction. Required with its accessory proteins (proliferating cell nuclear antigen (PCNA) and replication factor C (RFC) or activator 1) for leading strand synthesis. Also involved in completing Okazaki fragments initiated by the DNA polymerase alpha/primase complex.