AGPS Gene Summary [Human]
This gene is a member of the FAD-binding oxidoreductase/transferase type 4 family. It encodes a protein that catalyzes the second step of ether lipid biosynthesis in which acyl-dihydroxyacetonephosphate (DHAP) is converted to alkyl-DHAP by the addition of a long chain alcohol and the removal of a long-chain acid anion. The protein is localized to the inner aspect of the peroxisomal membrane and requires FAD as a cofactor. Mutations in this gene have been associated with rhizomelic chondrodysplasia punctata, type 3 and Zellweger syndrome. [provided by RefSeq, Jul 2008]
Details
| Type | Retained Intron |
| Official Symbol | AGPS |
| Official Name | alkylglycerone phosphate synthase [Source:HGNC Symbol;Acc:HGNC:327] |
| Ensembl ID | ENSG00000018510 |
| Bio databases IDs | |
| Aliases | alkylglycerone phosphate synthase |
| Synonyms | 5832437L22, 9930035G10Rik, ADAP-S, ADAS, ADHAPS, ADPS, Ads, ALDHPSY, alkylglycerone phosphate synthase, bs2, LOC100360503, RCDP3 |
| 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 AGPS often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- FAD binding
- FAD binding domain
- FAD linked oxidases, C-terminal domain
- alkylglycerone-phosphate synthase
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- refractive error
- rhizomelic chondrodysplasia punctata, type 3
- diabetic nephropathy
- mammary neoplasm
- rhizomelic chondrodysplasia punctata
- astrocytosis
role in cell
- expression in
- proliferation
- growth
- survival
- utilization 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
- peroxisomal matrix
- cytosol
- peroxisome membrane
- peroxisomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human AGPS gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lipid biosynthetic process
- ether lipid biosynthetic process
Cellular Component
Where in the cell the gene product is active
- peroxisomal membrane
- peroxisome
- membrane
- mitochondrion
- cytosol
- peroxisomal matrix
Molecular Function
What the gene product does at the molecular level
- FAD binding
- protein binding
- alkylglycerone-phosphate synthase activity