GNPAT Gene Summary [Human]
This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
Details
| Type | Protein Coding |
| Official Symbol | GNPAT |
| Official Name | glyceronephosphate O-acyltransferase [Source:HGNC Symbol;Acc:HGNC:4416] |
| Ensembl ID | ENSG00000116906 |
| Bio databases IDs | |
| Aliases | glyceronephosphate O-acyltransferase, glycerone-phosphate O-acyltransferase, dihydroxyacetone phosphate acyltransferase |
| Synonyms | Acyl CoA Dihydroxyacetone Phosphate Acyltransferase, D1Ertd819e, DAP-AT, DHAPAT, glyceronephosphate O-acyltransferase, RCDP2 |
| 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 GNPAT often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Lysophospholipid acyltransferases (LPLATs) of glycerophospholipid biosynthesis
- glycerone-phosphate O-acyltransferase
- enzyme
- protein binding
- Acyltransferase
- Glycerol-3-phosphate acyltransferase C-terminal region
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- rhizomelic chondrodysplasia punctata type 2
- hypoplasia
- Alzheimer disease
- lenticonus
- cataract disease
- rhizomelic chondrodysplasia punctata
- hyperactive behavior
- androgenic alopecia
- microphthalmia
- disproportionate dwarfism
role in cell
- proliferation
- activation
- migration
- assembly
- growth
- organization
- abnormal morphology
- ferroptosis
- lipotoxicity in
- myelination
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
- cell junction
- peroxisomal matrix
- intracellular membrane-bounded organelle
- cytosol
- peroxisome membrane
- peroxisomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GNPAT gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- membrane organization
- phospholipid biosynthetic process
- response to starvation
- response to nutrient
- response to xenobiotic stimulus
- fatty acid metabolic process
- phosphatidic acid biosynthetic process
- ether lipid biosynthetic process
- cerebellum morphogenesis
- synapse assembly
- paranodal junction assembly
- triglyceride biosynthetic process
- response to fatty acid
Cellular Component
Where in the cell the gene product is active
- peroxisomal membrane
- peroxisome
- mitochondrial membrane
- membrane
- cytosol
- peroxisomal matrix
Molecular Function
What the gene product does at the molecular level
- glycerone-phosphate O-acyltransferase activity
- glycerol-3-phosphate O-acyltransferase activity