Entity Details
| Primary name |
TBL1Y_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q9BQ87 |
| EntryName | TBL1Y_HUMAN |
| FullName | F-box-like/WD repeat-containing protein TBL1Y |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 522 |
| SequenceStatus | complete |
| DateCreated | 2002-09-19 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Nucleus |
Domains
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| Domain | Name | Category | Type |
| IPR001680 | WD40 repeat | Repeat | Repeat |
| IPR006594 | LIS1 homology motif | Domain | Domain |
| IPR015943 | WD40/YVTN repeat-like-containing domain superfamily | Family | Homologous superfamily |
| IPR019775 | WD40 repeat, conserved site | Site | Conserved site |
| IPR020472 | G-protein beta WD-40 repeat | Repeat | Repeat |
| IPR036322 | WD40-repeat-containing domain superfamily | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 400047 | OMIM | Deafness, Y-linked 2 (DFNY2) | A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNY2 patients show bilateral symmetric hearing loss ranging from mild to severe, with onset in the third to fifth decades of life. The disease may be caused by variants affecting the gene represented in this entry. |
Interactions
1 interaction