| URN | urn:agi-llid:557 |
|---|---|
| Total Entities | 0 |
| Connectivity | 88 |
| Name | Aptx |
| Description | aprataxin |
| Notes | 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] |
| Ariadne Ontology | DNA repair |
|---|
| GO Molecular Function | catalytic activity |
|---|---|
| chromatin binding | |
| phosphoprotein binding | |
| protein N-terminus binding | |
| DNA binding | |
| double-stranded RNA binding | |
| damaged DNA binding | |
| double-stranded DNA binding | |
| metal ion binding | |
| zinc ion binding | |
| hydrolase activity | |
| DNA 5'-adenosine monophosphate hydrolase activity | |
| phosphoglycolate phosphatase activity | |
| polynucleotide 3'-phosphatase activity |
| GO Cellular Component | nucleoplasm |
|---|---|
| nucleolus | |
| nuclear chromatin | |
| chromatin | |
| intracellular | |
| cytoplasm | |
| nucleus |
| GO Biological Process | cell death |
|---|---|
| DNA repair | |
| DNA ligation | |
| single strand break repair | |
| double-strand break repair | |
| response to DNA damage stimulus | |
| response to hydrogen peroxide | |
| regulation of protein stability |
| Pathway | non-homologous end joining pathway of double-strand break repair |
|---|
| Group | DNA repair |
|---|---|
| cell death | |
| DNA repair | |
| DNA ligation | |
| single strand break repair | |
| double-strand break repair | |
| response to DNA damage stimulus | |
| response to hydrogen peroxide | |
| regulation of protein stability | |
| catalytic activity | |
| chromatin binding | |
| phosphoprotein binding | |
| protein N-terminus binding | |
| DNA binding | |
| double-stranded RNA binding | |
| damaged DNA binding | |
| double-stranded DNA binding | |
| metal ion binding | |
| zinc ion binding | |
| hydrolase activity | |
| DNA 5'-adenosine monophosphate hydrolase activity | |
| phosphoglycolate phosphatase activity | |
| polynucleotide 3'-phosphatase activity | |
| nucleoplasm | |
| nucleolus | |
| nuclear chromatin | |
| chromatin | |
| intracellular | |
| cytoplasm | |
| nucleus |
| MedScan ID | 557 |
|---|
| Hugo ID | 15984 |
|---|
| Human chromosome position | 9p13.3 |
|---|
| LocusLink ID | 557 |
|---|---|
| 54840 | |
| 66408 | |
| 259271 |
| Alias | AOA |
|---|---|
| AOA1 | |
| AXA1 | |
| EAOH | |
| EOAHA | |
| FHA-HIT | |
| RP11-562M8.1 | |
| aprataxin | |
| forkhead-associated domain histidine triad-like protein | |
| AA388047 | |
| 2410016G21Rik | |
| RP23-135L5.3 | |
| forkhead-associated domain histidine-triad like | |
| OTTHUMP00000021190 | |
| FLJ20157 | |
| MGC1072 | |
| OTTHUMP00000021188 | |
| OTTHUMP00000021189 | |
| OTTHUMP00000215292 | |
| OTTHUMP00000215296 | |
| OTTHUMP00000215302 | |
| OTTHUMP00000215305 | |
| OTTMUSP00000006927 | |
| OTTMUSP00000006929 | |
| FHA-HITs | |
| 2410016G21 | |
| AOA I | |
| ataxia 1, early onset with hypoalbuminemia | |
| Ataxia-oculomotor apraxia syndrome gene | |
| AXA I | |
| APTX |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 606350 |
|---|---|
| 208920 | |
| 607426 |
| Unigene ID | Hs.20158 |
|---|---|
| Mm.430710 | |
| Rn.50459 |
| KEGG ID | hsa:54840 |
|---|---|
| mmu:66408 | |
| rno:259271 |
| Swiss-Prot Accession | Q7Z2E3 |
|---|---|
| B1AXX6 | |
| Q7TQC5 | |
| B1AXX8 | |
| Q8K4H4 | |
| Q8BPA7 | |
| Q8C2B5 | |
| Q8K3D1 | |
| Q9CQ59 | |
| A8MTN4 | |
| D3DRK9 | |
| D3DRL0 | |
| Q0P662 | |
| Q5T781 | |
| Q5T782 | |
| Q5T784 | |
| Q6JV81 | |
| Q6JV82 | |
| Q6JV85 | |
| Q7Z2F3 | |
| Q7Z336 | |
| Q7Z5R5 | |
| Q7Z6V7 | |
| Q7Z6V8 | |
| Q9NXM5 |
| EC Number | 3.-.-.- |
|---|
| GO ID | 0033699 |
|---|---|
| 0003682 | |
| 0003684 | |
| 0003690 | |
| 0003725 | |
| 0008967 | |
| 0051219 | |
| 0046403 | |
| 0047485 | |
| 0008270 | |
| 0006266 | |
| 0008219 | |
| 0006302 | |
| 0031647 | |
| 0006974 | |
| 0042542 | |
| 0000012 | |
| 0000785 | |
| 0005737 | |
| 0000790 | |
| 0005730 | |
| 0005654 | |
| 0003677 | |
| 0003824 | |
| 0016787 | |
| 0046872 | |
| 0006281 | |
| 0005622 | |
| 0005634 |
| Swiss-Prot ID | APTX_RAT |
|---|---|
| APTX_MOUSE | |
| APTX_HUMAN |
| Cell Localization | Nucleus |
|---|---|
| nucleoplasm | |
| nucleolus | |
| Cytoplasm |
| IPI ID | IPI00203252 |
|---|---|
| IPI00404622 | |
| IPI00421211 | |
| IPI00467215 | |
| IPI00475053 | |
| IPI00180685 | |
| IPI00375305 | |
| IPI00411460 | |
| IPI00414767 | |
| IPI00420029 | |
| IPI00420030 | |
| IPI00420031 | |
| IPI00420033 | |
| IPI00428971 | |
| IPI00428972 | |
| IPI00554783 | |
| IPI00979014 |
| Mouse chromosome position | 4 |
|---|
| Rat chromosome position | 5q22 |
|---|
| Homologene ID | 41634 |
|---|
| MGI ID | 1913658 |
|---|
| RGD ID | 628740 |
|---|
| Primary Cell Localization | Nucleus |
|---|