Entity Details
| Primary name |
CBPC5_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q8NDL9 |
| EntryName | CBPC5_HUMAN |
| FullName | Cytosolic carboxypeptidase-like protein 5 |
| TaxID | 9606 |
| Evidence | evidence at transcript level |
| Length | 886 |
| SequenceStatus | complete |
| DateCreated | 2007-10-02 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Cytoplasm |
| Midbody |
| Nucleus |
Domains
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| Domain | Name | Category | Type |
| IPR000834 | Peptidase M14, carboxypeptidase A | Domain | Domain |
| IPR034286 | Cytosolic carboxypeptidase-like protein 5 catalytic domain | Domain | Domain |
| IPR040626 | Cytosolic carboxypeptidase, N-terminal | Domain | Domain |
Diseases
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| Disease ID | Source | Name | Description |
| 617023 | OMIM | Retinitis pigmentosa 75 (RP75) | A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP75 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
1 interaction