Entity Details
| Primary name |
SYT14_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q8NB59 |
| EntryName | SYT14_HUMAN |
| FullName | Synaptotagmin-14 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 555 |
| SequenceStatus | complete |
| DateCreated | 2004-09-27 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Membrane |
Domains
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| Domain | Name | Category | Type |
| IPR000008 | C2 domain | Domain | Domain |
| IPR028696 | Synaptotagmin-14 | Family | Family |
| IPR035892 | C2 domain superfamily | Family | Homologous superfamily |
| IPR043541 | Synaptotagmin-14/14L/16 | Family | Family |
Diseases
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| Disease ID | Source | Name | Description |
| 614229 | OMIM | Spinocerebellar ataxia, autosomal recessive, 11 (SCAR11) | A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR11 is associated with psychomotor retardation. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
2 interactions