ABHD6 Gene Summary [Human]
Enables acylglycerol lipase activity. Involved in acylglycerol catabolic process. Predicted to be located in late endosome membrane and lysosomal membrane. Predicted to be integral component of membrane. Predicted to be part of AMPA glutamate receptor complex. Predicted to be active in GABA-ergic synapse; glutamatergic synapse; and mitochondrion. Predicted to be integral component of postsynaptic membrane. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | ABHD6 |
| Official Name | abhydrolase domain containing 6, acylglycerol lipase [Source:HGNC Symbol;Acc:HGNC:21398] |
| Ensembl ID | ENSG00000163686 |
| Bio databases IDs | |
| Aliases | abhydrolase domain containing 6, acylglycerol lipase |
| Synonyms | 0610041D24RIK, abhydrolase domain containing 6, abhydrolase domain containing 6, acylglycerol lipase, LOC57406 |
| 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 ABHD6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- alpha/beta hydrolase fold
- 2-succinyl-6-hydroxy-2,4-cyclohexadiene-1-carboxylate synthase
- alpha/beta hydrolases
- Serine aminopeptidase, S33
- Alpha/beta hydrolase family
- acylglycerol lipase
- enzyme
- protein binding
- pimelyl-[acyl-carrier protein] methyl ester esterase
- phospholipase
- 3-oxoadipate enol-lactonase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- myoclonic seizure
- seizures
- lung adenocarcinoma
- lung adenocarcinoma formation
- diabetes mellitus
- refractive error
- tonic-clonic seizure
role in cell
- quantity
- degradation in
- migration
- oxygen consumption 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
- glutaminergic synapse
- cellular membrane
- Plasma Membrane
- lysosome
- Endoplasmic Reticulum
- Mitochondria
- postsynaptic membrane
- lysosome membrane
- endosomal membrane
- synapse
- late endosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ABHD6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- acylglycerol catabolic process
- monoacylglycerol catabolic process
- phospholipid catabolic process
- regulation of endocannabinoid signaling pathway
- long term synaptic depression
- arachidonic acid metabolic process
- negative regulation of cell migration
- lysobisphosphatidic acid metabolic process
- positive regulation of lipid biosynthetic process
Cellular Component
Where in the cell the gene product is active
- alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex
- late endosome membrane
- mitochondrial membrane
- postsynaptic membrane
- mitochondrion
- membrane
- lysosomal membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- acylglycerol lipase activity
- protein binding
- phospholipase activity