UniProt Protein Function: | APTX: DNA-binding protein involved in single-strand DNA break repair, double-strand DNA break repair and base excision repair. 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. Catalyzes the release of adenylate groups covalently linked to 5'-phosphate termini, resulting in the production of 5'-phosphate termini that can be efficiently rejoined. Also able to hydrolyze adenosine 5'- monophosphoramidate (AMP-NH(2)) and diadenosine tetraphosphate (AppppA), but with lower catalytic activity. Defects in APTX are the cause of ataxia-oculomotor apraxia syndrome (AOA). AOA is an autosomal recessive syndrome characterized by early-onset cerebellar ataxia, oculomotor apraxia, early areflexia and late peripheral neuropathy. 13 isoforms of the human protein are produced by alternative splicing. |
UniProt Protein Details: | Protein type:Nucleolus; EC 3.-.-.-; C2H2-type zinc finger protein; RNA-binding; Phosphatase (non-protein); DNA repair, damage Chromosomal Location of Human Ortholog: 9p13.3 Cellular Component: nucleoplasm; nuclear chromatin; cytoplasm; nucleolus; chromatin; nucleus Molecular Function:protein binding; DNA 5'-adenosine monophosphate hydrolase activity; phosphoglycolate phosphatase activity; polynucleotide 3'-phosphatase activity; metal ion binding; double-stranded DNA binding; double-stranded RNA binding; damaged DNA binding; phosphoprotein binding; protein N-terminus binding; chromatin binding Biological Process: single strand break repair; response to hydrogen peroxide; dephosphorylation; double-strand break repair; regulation of protein stability; DNA catabolic process, exonucleolytic; response to DNA damage stimulus; DNA ligation Disease: Ataxia, Early-onset, With Oculomotor Apraxia And Hypoalbuminemia |
NCBI Summary: | This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010] |
UniProt Code: | Q7Z2E3 |
NCBI GenInfo Identifier: | 48428038 |
NCBI Gene ID: | 54840 |
NCBI Accession: | Q7Z2E3.2 |
UniProt Secondary Accession: | Q7Z2E3,Q0P662, Q5T781, Q5T782, Q5T784, Q6JV81, Q6JV82 Q6JV85, Q7Z2F3, A8MTN4, D3DRK9, D3DRL0, |
UniProt Related Accession: | Q7Z2E3 |
Molecular Weight: | |
NCBI Full Name: | Aprataxin |
NCBI Synonym Full Names: | aprataxin |
NCBI Official Symbol: | APTX |
NCBI Official Synonym Symbols: | AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT |
NCBI Protein Information: | aprataxin; forkhead-associated domain histidine triad-like protein |
UniProt Protein Name: | Aprataxin |
UniProt Synonym Protein Names: | Forkhead-associated domain histidine triad-like protein; FHA-HIT |
Protein Family: | Aprataxin |
UniProt Gene Name: | APTX |
UniProt Entry Name: | APTX_HUMAN |