Abhd5 Gene Summary [Mouse]
Enables lipase activator activity. Involved in negative regulation of triglyceride storage and positive regulation of triglyceride catabolic process. Located in cytosol and lipid droplet. Is expressed in central nervous system; dorsal root ganglion; heart; retina; and skin. Used to study Chanarin-Dorfman syndrome. Human ortholog(s) of this gene implicated in Chanarin-Dorfman syndrome; autosomal recessive congenital ichthyosis 1; and colon adenocarcinoma. Orthologous to human ABHD5 (abhydrolase domain containing 5, lysophosphatidic acid acyltransferase). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Abhd5 |
| Official Name | abhydrolase domain containing 5 [Source:MGI Symbol;Acc:MGI:1914719] |
| Ensembl ID | ENSMUSG00000032540 |
| Bio databases IDs | |
| Aliases | abhydrolase domain containing 5 |
| Synonyms | 1300003D03RIK, 2010002J10Rik, abhydrolase domain containing 5, abhydrolase domain containing 5, lysophosphatidic acid acyltransferase, CGI-58, IECN2, IECN5, NCIE2 |
| 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 Abhd5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- lysophosphatidic acid acyltransferase
- alpha/beta hydrolase fold
- alpha/beta hydrolases
- Alpha/beta hydrolase family
- 1-acylglycerol-3-phosphate O-acyltransferase
- enzyme
- protein binding
- enzyme activator activity
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- fibrosis
- ichthyosis Chanarin Dorfman syndrome
- insulin resistance
- smoldering myeloma
- hyperkeratosis
- liver cancer
- hyperplasia
- cardiac steatosis
- hepatic steatosis
- skin barrier defect
regulates
- triacylglycerol
- triolein
- ceramide
- AKT
- PPARG
- AMPK
- lipid
- cholesterol
- PRKAA
- insulin
role in cell
- activation in
- phosphorylation in
- expression in
- quantity
- generation in
- autophagy by
- accumulation
- differentiation
- oxidation in
- lipolysis in
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
- intracellular membrane-bounded organelle
- cell surface
- membrane surface
- Golgi Apparatus
- Endoplasmic Reticulum
- lipid droplets
- cytosol
- nucleoplasm
- alveolar epithelial lamellar bodies
- perikaryon
- axons
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Abhd5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of sequestering of triglyceride
- lipid homeostasis
- cell differentiation
- positive regulation of triglyceride catabolic process
- fatty acid metabolic process
- phosphatidic acid biosynthetic process
Cellular Component
Where in the cell the gene product is active
- lipid particle
- intracellular membrane-bounded organelle
- mitochondrion
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- 1-acylglycerol-3-phosphate O-acyltransferase activity
- lysophosphatidic acid acyltransferase activity
- protein binding
- triglyceride lipase activity
- lipase activator activity
- carboxylic ester hydrolase activity