Entity Details
| Primary name |
CERKL_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q49MI3 |
| EntryName | CERKL_HUMAN |
| FullName | Ceramide kinase-like protein |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 558 |
| SequenceStatus | complete |
| DateCreated | 2005-12-20 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Cytoplasm |
| Endoplasmic reticulum |
| Golgi apparatus |
| Nucleus |
Domains
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| Domain | Name | Category | Type |
| IPR001206 | Diacylglycerol kinase, catalytic domain | Domain | Domain |
| IPR016064 | NAD kinase/diacylglycerol kinase-like domain superfamily | Family | Homologous superfamily |
| IPR017438 | Inorganic polyphosphate/ATP-NAD kinase, N-terminal | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 608380 | OMIM | Retinitis pigmentosa 26 (RP26) | 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. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
1 interaction