Recombinant Human DNA replication ATP-dependent helicase/nuclease DNA2 (DNA2), Truncated

Uniprot Id

P51530

Target Species

Human

Target Name

DNA2

Target Full Name

DNA replication ATP-dependent helicase/nuclease DNA2

Target Function

Key enzyme involved in DNA replication and DNA repair in nucleus and mitochondrion. Involved in Okazaki fragments processing by cleaving long flaps that escape FEN1: flaps that are longer than 27 nucleotides are coated by replication protein A complex (RPA), leading to recruit DNA2 which cleaves the flap until it is too short to bind RPA and becomes a substrate for FEN1. Also involved in 5'-end resection of DNA during double-strand break (DSB) repair: recruited by BLM and mediates the cleavage of 5'-ssDNA, while the 3'-ssDNA cleavage is prevented by the presence of RPA. Also involved in DNA replication checkpoint independently of Okazaki fragments processing. Possesses different enzymatic activities, such as single-stranded DNA (ssDNA)-dependent ATPase, 5'-3' helicase and endonuclease activities. While the ATPase and endonuclease activities are well-defined and play a key role in Okazaki fragments processing and DSB repair, the 5'-3' DNA helicase activity is subject to debate. According to various reports, the helicase activity is weak and its function remains largely unclear. Helicase activity may promote the motion of DNA2 on the flap, helping the nuclease function.

Target Involvement

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 (PEOA6); Seckel syndrome 8 (SCKL8)

Target Subcellular Location

Nucleus. Mitochondrion.

Target Protein Families

DNA2/NAM7 helicase family

Target Research Area

Epigenetics and Nuclear Signaling

Target Synonyms

DNA replication ATP-dependent helicase-like homolog; DNA replication helicase 2 homolog; DNA replication helicase 2, yeast, homolog of; DNA replication helicase 2-like; DNA replication helicase/nuclease 2; DNA2; DNA2-like helicase; DNA2L; DNA2L_HUMAN; HDNA2; KIAA0083; PEOA6; SCKL8

Target Background

This gene encodes a member of the DNA2/NAM7 helicase family. The encoded protein is a conserved helicase/nuclease involved in the maintenance of mitochondrial and nuclear DNA stability. Mutations in this gene are associated with autosomal dominant progressive external ophthalmoplegia-6 (PEOA6) and Seckel syndrome 8. Alternatively spliced transcript variants have been found for this gene.