UBIAD1 Gene Summary [Human]
This gene encodes a protein thought to be involved in cholesterol and phospholipid metabolism. Mutations in this gene are associated with Schnyder crystalline corneal dystrophy. [provided by RefSeq, Oct 2008]
Details
| Type | Protein Coding |
| Official Symbol | UBIAD1 |
| Official Name | UbiA prenyltransferase domain containing 1 [Source:HGNC Symbol;Acc:HGNC:30791] |
| Ensembl ID | ENSG00000120942 |
| Bio databases IDs | |
| Aliases | UbiA prenyltransferase domain containing 1, transitional epithelia response protein |
| Synonyms | 1200002M06Rik, RGD1309588, SCCD, TERE1, UbiA prenyltransferase domain containing 1 |
| 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 UBIAD1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- prenyltransferase
- enzyme
- antioxidant enzyme
- protein binding
- UbiA family of prenyltransferases (PTases)
- UbiA prenyltransferase family
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Schnyder crystalline corneal dystrophy
- gastrulation failure
- senile lentigo
regulates
- HDL/cholesterol
- cholesterol
- vitamin K
- vitamin K2
- HMGCR
- vitamin
- vitamin K1
- ubiquinone
role in cell
- growth
- proliferation
- ploidy
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- cellular membrane
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
- Golgi membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human UBIAD1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- ubiquinone biosynthetic process via 3,4-dihydroxy-5-polyprenylbenzoate
- vitamin K biosynthetic process
- vitamin K metabolic process
- menaquinone biosynthetic process
- ubiquinone biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- nucleus
- mitochondrial membrane
- cytoplasm
- membrane
- Golgi membrane
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- protein binding
- antioxidant activity
- prenyltransferase activity
- 4-hydroxybenzoate decaprenyltransferase activity