ARV1 Gene Summary [Human]
this gene encodes a transmembrane protein that contains a conserved zinc ribbon motif at the N- terminus. A similar protein in mouse is thought to function in fatty acid homeostasis. Mutations in this gene are associated with early infantile epileptic encephalopathy 38. [provided by RefSeq, Nov 2016]
Details
| Type | Processed Transcript |
| Official Symbol | ARV1 |
| Official Name | ARV1 homolog, fatty acid homeostasis modulator [Source:HGNC Symbol;Acc:HGNC:29561] |
| Ensembl ID | ENSG00000173409 |
| Bio databases IDs | |
| Aliases | ARV1 homolog, fatty acid homeostasis modulator |
| Synonyms | 1110067L22Rik, ARV1 homolog, fatty acid homeostasis modulator, DEE38, EIEE38, RGD1310264 |
| 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 ARV1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- lipid transporter
- protein binding
- Arv1-like family
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- obesity
- hereditary disorder
- early infantile epileptic encephalopathy type 38
- seizures
phenotypes
- Undetermined early-onset epileptic encephalopathy
- DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38
role in cell
- growth
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
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ARV1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of plasma membrane sterol distribution
- regulation of intracellular cholesterol transport
- intracellular sterol transport
- cholesterol biosynthetic process
- cholesterol transport
- sterol metabolic process
- bile acid metabolic process
- sphingolipid metabolic process
- regulation of cholesterol metabolic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- Golgi apparatus
- cortical endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- protein binding