| Gene Information | |
|---|---|
| Gene Name | CABC1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 647 |
| Protein Names | Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) (Chaperone activity of bc1 complex-like) (Chaperone-ABC1-like) (Coenzyme Q protein 8A) (aarF domain-containing protein kinase 3) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q8NI60 |
| Gene Card | COQ8A |
| Uniprot ID | Q8NI60 |
| Pfam | PF03109 |
| In ASD | yes |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Widely expressed, with highest levels in adrenal gland, heart, pancreas, nasal mucosa, stomach, uterus and skeletal muscle. {ECO:0000269|PubMed:24270420}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 4PED (X-ray 1.64A ) 5I35 (X-ray 2.30A ) |
| DBSNP | rs2297411 rs119468005 rs145034527 rs119468006 rs119468006 rs201908721 rs778798354 rs748118737 rs55798516 rs144147839 rs119468008 rs119468009 rs119468004 rs387906299 rs61995958 |
| Subcellular location [CC] | Mitochondrion {ECO:0000269|PubMed:11888884, ECO:0000269|PubMed:25498144}. Membrane {ECO:0000255}; Single-pass membrane protein {ECO:0000255, ECO:0000305|PubMed:25216398}. |
| Mouse PG classification | NA |
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