3 Ontology Annotations
| GO Term | Gene Name |
|---|---|
| GO:0003677 | IPR026963 |
| GO:0033699 | IPR026963 |
| GO:0006281 | IPR026963 |
| Type: | Family | Name: | Aprataxin |
| Description: | Aprataxin is a DNA-binding protein involved in single-strand and double-strand DNA break repair, and base excision repair [, , ]. In yeast the aprataxin orthologue is known as Hnt3 (Hit family protein 3) []. Aprataxin is a member of the histidine triad (HIT) superfamily of nucleotide hydrolases and transferases, named for their characteristic HxHxHxx catalytic motif, where x is a hydrophobic amino acid []. It also contains an N-terminal forkhead associated (FHA) domain, which is thought to mediate interactions with the ligase cofactors XRCC1 and XRCC4, and a C-terminal zinc finger domain implicated in DNA binding [, ].Aprataxin repairs adenylated RNA-DNA junctions []. It resolves abortive DNA ligation intermediates formed either at base excision sites, or when DNA ligases attempt to repair non-ligatable breaks induced by reactive oxygen species. It catalyses the release of adenylate groups covalently linked to 5'-phosphate termini, resulting in the production of 5'-phosphate termini that can be efficiently rejoined []. Mutations in the aprataxin gene cause the neurological disorder ataxia oculomotor apraxia-1 (AOA1). | Short Name: | Aprataxin |
| GO Term | Gene Name |
|---|---|
| GO:0003677 | IPR026963 |
| GO:0033699 | IPR026963 |
| GO:0006281 | IPR026963 |
