| Gene Information | |
|---|---|
| Gene Name | APTX |
| Organism | Homo sapiens (Human) |
| Gene Length | 356 |
| Protein Names | Aprataxin (EC 3.6.1.71) (EC 3.6.1.72) (Forkhead-associated domain histidine triad-like protein) (FHA-HIT) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 680 ( ENSG00000137074 ) |
| Evolutionary Stage | Cellular_organisms |
| AlphaFoldDB | Q7Z2E3 |
| Gene Card | APTX |
| Uniprot ID | Q7Z2E3 |
| Pfam | PF17913; PF16278 |
| In ASD | no |
| Allosteric Prediction | no (-0.637550171) |
| Ortholog in Animals | Alpaca_ APTX ( ortholog_one2one ) Dog_ APTX ( ortholog_one2one ) GuineaPig_ APTX ( ortholog_one2one ) Macaque_ APTX ( ortholog_one2one ) Mouse_ Aptx ( ortholog_one2one ) Pig_ APTX ( ortholog_one2one ) Rat_ Aptx ( ortholog_one2one ) Rabbit_ APTX ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | HINT3 |
| Tissue | NA |
| Tissue Specificity | Widely expressed; detected in liver, kidney and lymph node (at protein level) (PubMed:14755728). Isoform 1 is highly expressed in the cerebral cortex and cerebellum, compared to isoform 2 (at protein level) (PubMed:14755728). Widely expressed; detected throughout the brain, in liver, kidney, skeletal muscle, fibroblasts, lymphocytes and pancreas (PubMed:15276230, PubMed:11586299, PubMed:11586300). {ECO:0000269|PubMed:11586299, ECO:0000269|PubMed:11586300, ECO:0000269|PubMed:14755728, ECO:0000269|PubMed:15276230}. |
| Pharmacological Animal Models | NULL(Chimpanzee);0.001000(Mouse);NULL(Rat);0.033333(Rabbit) |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | 3KT9 (X-ray 1.65A ) 4NDF (X-ray 1.94A ) 4NDG (X-ray 2.54A ) 4NDH (X-ray 1.85A ) 4NDI (X-ray 1.90A ) 6CVO (X-ray 2.40A ) 6CVP (X-ray 2.00A ) 6CVQ (X-ray 1.65A ) 6CVR (X-ray 1.88A ) 6CVS (X-ray 2.11A ) 6CVT (X-ray 2.94A ) |
| DBSNP | rs748165574 rs150886026 rs121908133 rs121908131 rs267606665 rs121908132 rs773393618 |
| Subcellular location [CC] | Nucleus, nucleoplasm {ECO:0000269|PubMed:14755728, ECO:0000269|PubMed:15044383, ECO:0000269|PubMed:15276230, ECO:0000269|PubMed:15380105}. Nucleus, nucleolus {ECO:0000269|PubMed:15044383, ECO:0000269|PubMed:16777843}. Note=Upon genotoxic stress, colocalizes with XRCC1 at sites of DNA damage (PubMed:15380105). Colocalizes with MDC1 at sites of DNA double-strand breaks (PubMed:20008512). Interaction with NCL is required for nucleolar localization (PubMed:16777843). {ECO:0000269|PubMed:15044383, ECO:0000269|PubMed:15380105, ECO:0000269|PubMed:20008512}.; [Isoform 12]: Cytoplasm {ECO:0000269|PubMed:15276230}. |
| Mouse PG classification | NA |
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