| Gene Information | |
|---|---|
| Gene Name | KIAA1107 |
| Organism | Homo sapiens (Human) |
| Gene Length | 1792 |
| Protein Names | BTB/POZ domain-containing protein 8 (AP2-interacting clathrin-endocytosis) (APache) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q5XKL5 |
| Gene Card | BTBD8 |
| Uniprot ID | Q5XKL5 |
| Pfam | PF00651; PF15363 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Highly expressed in fetal brain. Weakly expressed in adult brain and prostate. {ECO:0000269|PubMed:14654994}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs34856868 rs17131602 rs2128647 rs12084085 rs7552286 rs11166332 rs7523466 rs7523552 rs3738439 rs560389 rs565156 rs17578364 rs566576 |
| Subcellular location [CC] | Cell projection, axon {ECO:0000250|UniProtKB:Q80TK0}. Presynapse {ECO:0000250|UniProtKB:Q80TK0}. Cytoplasmic vesicle, clathrin-coated vesicle {ECO:0000250|UniProtKB:D4A0X3}. Nucleus {ECO:0000269|PubMed:14654994}. Note=In primary cultures, mainly present at axonal and presynaptic terminal levels of mature neurons. In immature neurons, localizes to the cell body and growing processes, including axons (By similarity). Localized to nucleus in fetal cells (PubMed:14654994). {ECO:0000250|UniProtKB:Q80TK0, ECO:0000269|PubMed:14654994}. |
| Mouse PG classification | NA |
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