Entity Details
| Primary name |
TBCK_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q8TEA7 |
| EntryName | TBCK_HUMAN |
| FullName | TBC domain-containing protein kinase-like protein |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 893 |
| SequenceStatus | complete |
| DateCreated | 2007-01-23 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Cytoplasm |
| Midbody |
Domains
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| Domain | Name | Category | Type |
| IPR000195 | Rab-GTPase-TBC domain | Domain | Domain |
| IPR000719 | Protein kinase domain | Domain | Domain |
| IPR001763 | Rhodanese-like domain | Domain | Domain |
| IPR011009 | Protein kinase-like domain superfamily | Family | Homologous superfamily |
| IPR035969 | Rab-GTPase-TBC domain superfamily | Family | Homologous superfamily |
| IPR036873 | Rhodanese-like domain superfamily | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 616900 | OMIM | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (IHPRF3) | An autosomal recessive neurodevelopmental disorder characterized by profound developmental disability, intellectual disability and severe hypotonia. Many patients have seizures, and show brain atrophy, dysgenesis of the corpus callosum and white-matter changes on neuroimaging. Non-specific facial dysmorphism is noted in some individuals. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
1 interaction