Entity Details
| Primary name |
ATAD1_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q8NBU5 |
| EntryName | ATAD1_HUMAN |
| FullName | Outer mitochondrial transmembrane helix translocase |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 361 |
| SequenceStatus | complete |
| DateCreated | 2005-09-13 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Cell junction |
| Mitochondrion outer membrane |
| Peroxisome membrane |
Domains
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| Domain | Name | Category | Type |
| IPR003593 | AAA+ ATPase domain | Domain | Domain |
| IPR003959 | ATPase, AAA-type, core | Domain | Domain |
| IPR003960 | ATPase, AAA-type, conserved site | Site | Conserved site |
| IPR027417 | P-loop containing nucleoside triphosphate hydrolase | Family | Homologous superfamily |
| IPR041569 | AAA ATPase, AAA+ lid domain | Domain | Domain |
Diseases
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| Disease ID | Source | Name | Description |
| 618011 | OMIM | Hyperekplexia 4 (HKPX4) | An autosomal recessive severe neurologic disorder apparent from birth. HKPX4 is characterized by little if any development, hypertonia, early-onset refractory seizures in some patients, and respiratory failure resulting in early death, mostly in the first months of life. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
2 interactions