FADS1 Gene Summary [Human]
The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | FADS1 |
| Official Name | fatty acid desaturase 1 [Source:HGNC Symbol;Acc:HGNC:3574] |
| Ensembl ID | ENSG00000149485 |
| Bio databases IDs | |
| Aliases | fatty acid desaturase 1, delta-5 desaturase, acyl-CoA (8-3)-desaturase |
| Synonyms | 0710001O03RIK, A930006B21Rik, BC269730-2, D5D, Delta-5 Desaturase, DSD, FADS6, FADSD5, Fatty acid desaturase, Fatty acid desaturase 1, LLCDL1, TU12, δ-5 Desaturase |
| 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 FADS1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- omega-6 fatty acid desaturase
- stearoyl-CoA 9-desaturase
- Membrane-FADS-like
- fatty acid hydrogen donor:oxygen oxidoreductase
- oxidoreductase
- linoleoyl-CoA desaturase
- Fatty acid desaturase
- C-5 sterol desaturase
- Cytochrome b5-like Heme/Steroid binding domain
- CoA desaturase
- enzyme
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- breast cancer
- Crohn disease
- lung adenocarcinoma
- lung adenocarcinoma formation
- bipolar disorder
- psoriasis
- epithelial cancer
- metabolic syndrome X
- COVID-19
role in cell
- expression in
- apoptosis
- growth
- number
- colony formation by
- ferroptosis
- cell viability
- migration
- synthesis in
- acetylation 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.
- Plasma Membrane
- cellular membrane
- Mitochondria
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FADS1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- long-chain fatty acid biosynthetic process
- unsaturated fatty acid biosynthetic process
- regulation of cell differentiation
- lipid metabolic process
- cell-cell signaling
- phospholipid biosynthetic process
- linoleic acid metabolic process
- alpha-linolenic acid metabolic process
- regulation of transcription, DNA-dependent
- icosanoid biosynthetic process
- cellular response to starvation
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- intracellular membrane-bounded organelle
- mitochondrion
- membrane
Molecular Function
What the gene product does at the molecular level
- omega-6 fatty acid desaturase activity
- oxidoreductase activity
- oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water
- C-5 sterol desaturase activity
- linoleoyl-CoA desaturase activity