| Gene Symbol | APTX |
|---|---|
| Entrez Gene | 54840 |
| Alt Symbol | AOA, AOA1, AXA1, EAOH, EOAHA, FHA-HIT |
| Species | Human |
| Gene Type | protein-coding |
| Description | aprataxin |
| Other Description | forkhead-associated domain histidine triad-like protein |
| Swissprots | Q7Z2F3 Q7Z6V8 Q5T782 D3DRL0 A8MTN4 Q6JV82 D3DRK9 Q7Z336 Q7Z6V7 Q5T784 Q6JV85 Q7Z5R5 Q0P662 Q7Z2E3 Q5T781 Q6JV81 Q9NXM5 |
| Accessions | CAD88901 CAJ42756 EAW58528 EAW58529 EAW58530 EAW58531 EAW58532 EAW58533 EAW58534 EAW58535 Q7Z2E3 AA494365 AB603741 BAK31015 AJ565850 CAD92454 AJ565851 CAD92455 AJ565852 CAD92456 AJ565853 CAD92457 AJ565854 CAD92458 AJ565855 CAD92459 AJ575566 CAE01427 AK000164 BAA90985 AK055672 BAG51552 AK131046 AY040777 AAK91768 AY208829 AAP86319 AY208830 AAP86320 AY208831 AAP86321 AY208832 AAP86322 AY208833 AAP86323 AY208834 AAP86324 AY208835 AAP86325 AY208836 AAP86326 AY208837 AAP86327 AY208838 AAP86328 AY208839 AAP86329 AY208840 AAP86330 AY208841 AAP86331 AY208842 AAP86332 AY302067 AAQ74130 AY302068 AAQ74131 AY302069 AAQ74132 AY302070 AAQ74133 AY302071 AAQ74134 AY302072 AAQ74135 AY302073 AAQ74136 AY302074 AAQ74137 BC001628 AAH01628 BC032650 AAH32650 BC068107 BC104881 AAI04882 BQ957536 BX538161 CAD98041 CA429601 DA664623 DB042208 JF432548 ADZ15765 XM_006716791 XP_006716854 XM_006716792 XP_006716855 XM_011517936 XP_011516238 XM_011517937 XP_011516239 XM_011517938 XP_011516240 XM_011517939 XP_011516241 XR_428423 XR_929276 XR_929277 XR_929279 NM_001195248 NP_001182177 NM_001195249 NP_001182178 NM_001195250 NP_001182179 NM_001195251 NP_001182180 NM_001195252 NP_001182181 NM_001195254 NP_001182183 NM_175069 NP_778239 NM_175073 NP_778243 NR_036576 NR_036577 NR_036578 NR_036579 NM_017692 NM_175072 |
| Function | 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. {ECO:0000269|PubMed:14755728, ECO:0000269|PubMed:15044383, ECO:0000269|PubMed:16547001, ECO:0000269|PubMed:16964241, ECO:0000269|PubMed:17276982}. |
| Subcellular Location | Nucleus, nucleoplasm. Nucleus, nucleolus. Note=Upon genotoxic stress, colocalizes with XRCC1 at sites of DNA damage. Colocalizes with MDC1 at sites of DNA double-strand breaks. Interaction with NCL is required for nucleolar localization. |
| Tissue Specificity | Widely expressed. In brain, it is expressed in the posterior cortex, cerebellum, hippocampus and olfactory bulb. Isoform 1 is highly expressed in the cerebral cortex and cerebellum, compared to isoform 2. {ECO:0000269|PubMed:11586299, ECO:0000269|PubMed:11586300, ECO:0000269|PubMed:14755728}. |