ELOVL1 Gene Summary [Human]
Enables fatty acid elongase activity. Involved in fatty acid biosynthetic process and sphingolipid biosynthetic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | ELOVL1 |
| Official Name | ELOVL fatty acid elongase 1 [Source:HGNC Symbol;Acc:HGNC:14418] |
| Ensembl ID | ENSG00000066322 |
| Bio databases IDs | |
| Aliases | ELOVL fatty acid elongase 1 |
| Synonyms | CGI-88, ELOVL fatty acid elongase 1, IKSHD, LOC684910, Ssc1 |
| 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 ELOVL1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- GNS1/SUR4 family
- fatty acid elongase
- enzyme
- protein binding
- Non-amino-acyl group acyltransferase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- skin barrier defect
- ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
- androgenic alopecia
- Parkinson disease
- autosomal recessive ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
regulates
- very long chain fatty acid
- sphingolipid
- zymosan
- cyclic AMP
- acyl-coenzyme A
- malonyl-coenzyme A
- 3-oxoacyl-coenzyme A
- nervonic acid
- C26:1 fatty acid
- very long chain ceramide
role in cell
- cell viability
- differentiation
- apoptosis
- phagocytosis by
- accumulation in
- synthesis in
- abnormal morphology
- phagocytosis
- adipogenesis 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
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ELOVL1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- unsaturated fatty acid biosynthetic process
- long-chain fatty-acyl-CoA biosynthetic process
- linoleic acid metabolic process
- ceramide biosynthetic process
- alpha-linolenic acid metabolic process
- very long-chain fatty acid biosynthetic process
- fatty acid elongation, saturated fatty acid
- fatty acid elongation, polyunsaturated fatty acid
- fatty acid elongation, monounsaturated fatty acid
- establishment of skin barrier
- sphingolipid biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- membrane
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- protein binding
- fatty acid elongase activity