Entity Details
| Primary name |
VP13B_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q7Z7G8 |
| EntryName | VP13B_HUMAN |
| FullName | Vacuolar protein sorting-associated protein 13B |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 4022 |
| SequenceStatus | complete |
| DateCreated | 2004-02-16 |
| DateModified | 2021-06-02 |
Subcellular Location
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Domains
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| Domain | Name | Category | Type |
| IPR009543 | Vacuolar protein sorting-associated protein 13, SHR-binding domain | Domain | Domain |
| IPR026854 | Vacuolar protein sorting-associated protein 13-like, N-terminal domain | Domain | Domain |
| IPR031645 | Vacuolar protein sorting-associated protein 13, C-terminal | Domain | Domain |
| IPR039782 | Vacuolar protein sorting-associated protein 13B | Family | Family |
Diseases
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| Disease ID | Source | Name | Description |
| 216550 | OMIM | Cohen syndrome (COH1) | A rare autosomal recessive disorder characterized by obesity, hypotonia, intellectual deficit, characteristic craniofacial dysmorphism and abnormalities of the hands and feet. Characteristic facial features include high-arched or wave-shaped eyelids, a short philtrum, thick hair and low hairline. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
0 interactions
| Interactor | Partner | Sources | Publications | Link |