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Literature summary for 2.3.1.296 extracted from
- The role of PNPLA1 in omega-O-acylceramide synthesis and skin barrier function (2019), Biochim. Biophys. Acta, 1864, 869-879 .
Cloned(Commentary)
| Cloned (Comment) | Organism |
|---|---|
| expressed in HEK-293T cells | Homo sapiens |
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| A59V | the mutation is associated with congenital ichthyosis | Homo sapiens |
| E131del | the mutation is associated with congenital ichthyosis | Homo sapiens |
Localization
| Localization | Comment | Organism | GeneOntology No. | Textmining |
|---|---|---|---|---|
| endoplasmic reticulum | - |
Homo sapiens | 5783 | - |
Natural Substrates/ Products (Substrates)
| Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
|---|---|---|---|---|---|---|
| a linoleate-containing triacyl-sn-glycerol + an ultra-long-chain omega-hydroxyceramide | Homo sapiens | - |
a diacyl-sn-glycerol + a linoleate-esterified acylceramide | - |
? |  |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
- |
- |
Source Tissue
| Source Tissue | Comment | Organism | Textmining |
|---|---|---|---|
| keratinocyte | - |
Homo sapiens | - |
Substrates and Products (Substrate)
| Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
|---|---|---|---|---|---|---|
| a linoleate-containing triacyl-sn-glycerol + an ultra-long-chain omega-hydroxyceramide | - |
Homo sapiens | a diacyl-sn-glycerol + a linoleate-esterified acylceramide | - |
? | |
| additional information | the enzyme fails to catalyze the hydrolysis of triglyceride as a lipase | Homo sapiens | ? | - |
? | |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| patatin-like phospholipase domain-containing lipase 1 | - |
Homo sapiens |
| PNPLA1 | - |
Homo sapiens |
General Information
| General Information | Comment | Organism |
|---|---|---|
| malfunction | PNPLA1 is the causative genes of congenital ichthyosis | Homo sapiens |
| metabolism | the enzyme acts as a unique transacylase that specifically transfers linoleic acid from triglyceride to omega-hydroxy fatty acid in ceramide, thus giving rise to omega-O-acylceramide | Homo sapiens |
| physiological function | the enzyme plays a crucial role in the biosynthesis of omega-O-acylceramide, a particular class of sphingolipids that is essential for skin barrier function | Homo sapiens |
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Release 2023.1 (January 2023)
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