ELOVL5 Gene Summary [Human]
This gene belongs to the ELO family. It is highly expressed in the adrenal gland and testis, and encodes a multi-pass membrane protein that is localized in the endoplasmic reticulum. This protein is involved in the elongation of long-chain polyunsaturated fatty acids. Mutations in this gene have been associated with spinocerebellar ataxia-38 (SCA38). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
Details
| Type | Protein Coding |
| Official Symbol | ELOVL5 |
| Official Name | ELOVL fatty acid elongase 5 [Source:HGNC Symbol;Acc:HGNC:21308] |
| Ensembl ID | ENSG00000012660 |
| Bio databases IDs | |
| Aliases | ELOVL fatty acid elongase 5 |
| Synonyms | 1110059L23Rik, dJ483K16.1, Elongase 5, ELOVL fatty acid elongase 5, HELO1, RELO1, SCA38 |
| 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 ELOVL5 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
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- colorectal cancer
- neoplasia
- squamous cell lung cancer
- metastasis
- lung squamous cell carcinoma
- epithelial cancer
- HER2-positive breast cancer
- liver cancer
- obesity
- hepatocellular carcinoma
role in cell
- proliferation
- expression in
- phosphorylation in
- elongation in
- formation
- apoptosis
- growth
- invasion by
- epithelial-mesenchymal transition in
- serine phosphorylation 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
- dendritic trees
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ELOVL5 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
- linoleic acid metabolic process
- long-chain fatty-acyl-CoA 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
- positive regulation of fatty acid biosynthetic process
- sphingolipid biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- dendrite
- membrane
- endoplasmic reticulum
- neuronal cell body
Molecular Function
What the gene product does at the molecular level
- protein binding
- fatty acid elongase activity