ABHD5 Gene Summary [Human]
The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation. [provided by RefSeq, Jul 2008]
Details
| Type | Processed Transcript |
| Official Symbol | ABHD5 |
| Official Name | abhydrolase domain containing 5, lysophosphatidic acid acyltransferase [Source:HGNC Symbol;Acc:HGNC:21396] |
| Ensembl ID | ENSG00000011198 |
| Bio databases IDs | |
| Aliases | abhydrolase domain containing 5, lysophosphatidic acid acyltransferase |
| Synonyms | 1300003D03RIK, 2010002J10Rik, abhydrolase domain containing 5, abhydrolase domain containing 5, lysophosphatidic acid acyltransferase, CGI-58, IECN2, IECN5, NCIE2 |
| Species | Human, Homo sapiens |
| 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 human 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
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 human 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