| Gene Information | |
|---|---|
| Gene Name | PNPLA1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 532 |
| Protein Names | Omega-hydroxyceramide transacylase (EC 2.3.1.296) (Patatin-like phospholipase domain-containing protein 1) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 382 ( ENSG00000180316 ) |
| Evolutionary Stage | Mammalia |
| AlphaFoldDB | Q8N8W4 |
| Gene Card | PNPLA1 |
| Uniprot ID | Q8N8W4 |
| Pfam | NA |
| In ASD | no |
| Allosteric Prediction | no (-1.328421277) |
| Ortholog in Animals | Alpaca_ PNPLA1 ( ortholog_one2one ) Dog_ PNPLA1 ( ortholog_one2one ) GuineaPig_ PNPLA1 ( ortholog_one2one ) Macaque_ PNPLA1 ( ortholog_one2one ) Mouse_ Pnpla1 ( ortholog_one2one ) Pig_ PNPLA1 ( ortholog_one2one ) Rat_ Pnpla1 ( ortholog_one2one ) Rabbit_ PNPLA1 ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | PNPLA2, PNPLA4, PNPLA3, PNPLA5 |
| Tissue | skin |
| Tissue Specificity | Expressed in the digestive system. Expressed in the epidermis of skin keratinocytes. Strongly expressed in the granular layer. Expressed in the upper epidermis and eccrine sweat glands of the dermis and in the region of keratin filament bundles, which is more pronounced in upper epidermal layers and in the lower cornified layers. {ECO:0000269|PubMed:16799181, ECO:0000269|PubMed:22246504}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs1182312612 rs1561853847 rs1561864453 rs12199580 rs12197079 rs4713956 |
| Subcellular location [CC] | Cytoplasm {ECO:0000269|PubMed:22246504}. |
| Mouse PG classification | NA |
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