Pnpla1 Gene Summary [Mouse]
Enables omega-hydroxyceramide transacylase activity. A structural constituent of skin epidermis. Involved in establishment of skin barrier; keratinocyte differentiation; and omega-hydroxyceramide biosynthetic process. Predicted to be active in cytoplasm; lipid droplet; and membrane. Is expressed in gut; heart; liver; skin; and spleen. Used to study autosomal recessive congenital ichthyosis 10. Human ortholog(s) of this gene implicated in autosomal recessive congenital ichthyosis 10. Orthologous to human PNPLA1 (patatin like phospholipase domain containing 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Pnpla1 |
| Official Name | patatin-like phospholipase domain containing 1 [Source:MGI Symbol;Acc:MGI:3617850] |
| Ensembl ID | ENSMUSG00000043286 |
| Bio databases IDs | |
| Aliases | patatin-like phospholipase domain containing 1 |
| Synonyms | ARCI10, dJ50J22.1, patatin-like phospholipase domain containing 1 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Pnpla1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Patatins and Phospholipases
- structural constituent of epidermis
- enzyme
- Non-amino-acyl group acyltransferase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal recessive congenital ichthyosis type 10
- skin barrier defect
- lamellar ichthyosis
- acanthosis
- autosomal recessive ichthyosis
- hyperplasia
- ichthyosis
- dry skin
- atopic dermatitis
- hyperkeratosis
role in cell
- expression in
- production in
- differentiation
- loss
- generation in
- biosynthesis in
- generation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Pnpla1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lipid homeostasis
- ceramide biosynthetic process
- triglyceride catabolic process
Cellular Component
Where in the cell the gene product is active
- lipid particle
- cytoplasm
- membrane
Molecular Function
What the gene product does at the molecular level
- structural constituent of epidermis
- transferase activity, transferring acyl groups other than amino-acyl groups
- triglyceride lipase activity