DEGS1 Gene Summary [Human]
This gene encodes a member of the membrane fatty acid desaturase family which is responsible for inserting double bonds into specific positions in fatty acids. This protein contains three His-containing consensus motifs that are characteristic of a group of membrane fatty acid desaturases. It is predicted to be a multiple membrane-spanning protein localized to the endoplasmic reticulum. Overexpression of this gene inhibited biosynthesis of the EGF receptor, suggesting a possible role of a fatty acid desaturase in regulating biosynthetic processing of the EGF receptor. [provided by RefSeq, Mar 2010]
Details
| Type | Protein Coding |
| Official Symbol | DEGS1 |
| Official Name | delta 4-desaturase, sphingolipid 1 [Source:HGNC Symbol;Acc:HGNC:13709] |
| Ensembl ID | ENSG00000143753 |
| Bio databases IDs | |
| Aliases | delta 4-desaturase, sphingolipid 1, sphingolipid delta(4)-desaturase 1, dihydroceramide desaturase 1 |
| Synonyms | Degenerative spermatocyte homolog, Degenerative Spermatocyte Homolog 1, Lipid Desaturase, DEGS, delta 4-desaturase, sphingolipid 1, DES1, Dihydroceramide desaturase, FADS7, HLD18, Mdes, MIG15, MLD, δ 4-desaturase, sphingolipid 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 DEGS1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- electron carrier
- sphingolipid delta-4 desaturase
- Membrane-FADS-like
- Fatty acid desaturase
- retinol isomerase
- enzyme
- protein binding
- Sphingolipid Delta4-desaturase (DES)
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hypomyelinating leukodystrophy type 18
- hereditary disorder
- systemic autoimmune syndrome
- organismal death
- leukodystrophy
- allergic rhinitis
- hematological disorder
- hypotrichosis
- insulin resistance
- tremor
role in cell
- growth
- apoptosis
- proliferation
- Gap 0-Gap 1 phase
- cell survival
- accumulation in
- molecular cleavage in
- maintenance
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
- insoluble fractions
- cellular membrane
- Plasma Membrane
- Endoplasmic Reticulum
- Mitochondria
- specific granule membrane
- endoplasmic reticulum membrane
- endosomes and endoplasmic reticulum fractions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DEGS1 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
- ceramide biosynthetic process
- myelin maintenance
- sphingolipid biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- mitochondrial membrane
- mitochondrion
- membrane
- endoplasmic reticulum
- plasma membrane
- specific granule membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- retinol isomerase activity
- sphingolipid delta-4 desaturase activity
- electron carrier activity