Entity Details
| Primary name |
PLPL1_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q8N8W4 |
| EntryName | PLPL1_HUMAN |
| FullName | Omega-hydroxyceramide transacylase |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 532 |
| SequenceStatus | complete |
| DateCreated | 2007-06-26 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Cytoplasm |
Domains
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| Domain | Name | Category | Type |
| IPR002641 | Patatin-like phospholipase domain | Domain | Domain |
| IPR016035 | Acyl transferase/acyl hydrolase/lysophospholipase | Family | Homologous superfamily |
| IPR033562 | Patatin-like phospholipase domain-containing protein | Family | Family |
| IPR039180 | Omega-hydroxyceramide transacylase PNPLA1 | Family | Family |
Diseases
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| Disease ID | Source | Name | Description |
| 615024 | OMIM | Ichthyosis, congenital, autosomal recessive 10 (ARCI10) | A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
0 interactions
| Interactor | Partner | Sources | Publications | Link |