LRAT Gene Summary [Human]
The protein encoded by this gene localizes to the endoplasmic reticulum, where it catalyzes the esterification of all-trans-retinol into all-trans-retinyl ester. This reaction is an important step in vitamin A metabolism in the visual system. Mutations in this gene have been associated with early-onset severe retinal dystrophy and Leber congenital amaurosis 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
Details
| Type | Processed Transcript |
| Official Symbol | LRAT |
| Official Name | lecithin retinol acyltransferase [Source:HGNC Symbol;Acc:HGNC:6685] |
| Ensembl ID | ENSG00000121207 |
| Bio databases IDs | |
| Aliases | lecithin retinol acyltransferase, phosphatidylcholine--retinol O-acyltransferase |
| Synonyms | 1300010A18Rik, LCA14, lecithin retinol acyltransferase, lecithin-retinol acyltransferase (phosphatidylcholine-retinol-O-acyltransferase), LOC101927965, Lrat2 |
| 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 LRAT often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- O-palmitoyltransferase
- binding protein
- retinol binding
- NlpC/P60 family
- phosphatidylcholine-retinol O-acyltransferase
- enzyme
- protein binding
- retinoid binding
- transferase, transferring acyl groups
- O-acyltransferase
Pathways
Biological processes and signaling networks where the LRAT gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Alzheimer disease
- Leber congenital amaurosis type 1
- LRAT-related juvenile retinitis pigmentosa
- retinal dystrophy
- leber congenital amaurosis type 14
- LRAT-related early-onset severe retinal dystrophy
- autosomal recessive retinitis pigmentosa
- flu
- retinitis pigmentosa
- hypoplasia
role in cell
- activation in
- quantity
- accumulation in
- synthesis in
- degradation in
- endoplasmic reticulum stress response
- abnormal morphology
- length
- mislocalization in
- degeneration
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
- perinuclear region
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
- multivesicular bodies
- rough endoplasmatic reticulum
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LRAT gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of lipid transport
- response to retinoic acid
- response to bacterium
- retinoid metabolic process
- retinol metabolic process
- response to vitamin A
- visual perception
- vitamin A metabolic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- perinuclear region of cytoplasm
- rough endoplasmic reticulum
- endoplasmic reticulum
- multivesicular body
Molecular Function
What the gene product does at the molecular level
- retinoic acid binding
- O-palmitoyltransferase activity
- transferase activity, transferring acyl groups
- phosphatidylcholine-retinol O-acyltransferase activity
- protein binding
- retinol binding