ELOVL1
ELOVL Fatty Acid Elongase 1
Gene Information Card
| Symbol | ELOVL1 |
|---|---|
| Full Name | ELOVL Fatty Acid Elongase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.13 |
| NCBI Gene ID | 64834 ncbi.nlm.nih.gov/gene/64834 |
| Ensembl ID | ENSG00000143178 |
| UniProt ID | Q9BW60 |
| OMIM ID | 606412 |
| HGNC ID | 14487 |
| Aliases | SSC1, ELOVL1, 3-keto acyl-CoA synthase ELOVL1 |
Description
ELOVL1 (ELOVL Fatty Acid Elongase 1) is a protein-coding gene that encodes a member of the ELOVL family of elongases. This enzyme catalyzes the condensation reaction in the elongation of very long-chain fatty acids (VLCFAs), specifically elongating saturated and monounsaturated fatty acids with chain lengths up to 24 carbons. ELOVL1 is essential for the synthesis of myelin lipids and sphingolipids, and its dysfunction is linked to neurological disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary spastic paraplegia (SPG38) | Loss-of-function mutations in ELOVL1 impair VLCFA elongation, leading to myelin abnormalities and axonal degeneration. | ClinVar, OMIM |
| Leukodystrophy | Defective ELOVL1 reduces VLCFA levels in myelin, causing white matter degeneration. | OMIM, PubMed |
| Cancer (various) | Altered ELOVL1 expression affects membrane lipid composition and signaling, promoting tumor growth. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Liver | 8.3 | Medium |
| Kidney | 6.1 | Medium |
| Heart | 4.7 | Low |
| Lung | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 10.8 | Medium expression |
| HepG2 | 9.5 | Medium expression |
| SH-SY5Y | 14.1 | High expression |
| MCF7 | 7.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.284G>A (p.Arg95His) | Missense | <0.01% | Reduced elongase activity, associated with SPG38 |
| c.512T>C (p.Leu171Pro) | Missense | <0.01% | Loss of function, linked to leukodystrophy |
| c.739C>T (p.Arg247Cys) | Missense | <0.01% | Impaired VLCFA elongation |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg95His, p.Leu171Pro) reduce or abolish elongase activity, leading to VLCFA deficiency and neurological phenotypes.
Gain of Function (GOF)
No gain-of-function mutations reported in ELOVL1.
Dominant Negative (DN)
No dominant-negative mutations reported in ELOVL1.
View complete mutation data：
Gene Ontology (GO)
| • fatty acid elongase activity (GO:0009922) | • fatty acid biosynthetic process (GO:0006633) |
| • integral component of membrane (GO:0016021) | • endoplasmic reticulum (GO:0005783) |
| • fatty acid elongation (GO:0034625) |
Pathways
• Fatty acid elongation (Reactome: R-HSA-1483206)
• Sphingolipid metabolism (KEGG: hsa00600)
• Very long-chain fatty acid biosynthesis (Reactome: R-HSA-2046106)
Protein Summary
ELOVL1 is a 267-amino acid transmembrane protein localized to the endoplasmic reticulum. It functions as a 3-keto acyl-CoA synthase, catalyzing the first and rate-limiting step in the elongation of very long-chain fatty acids (VLCFAs). The enzyme is critical for the production of C24:0 and C26:0 fatty acids, which are essential components of myelin and sphingolipids. ELOVL1 is highly expressed in brain and liver, and its mutations cause hereditary spastic paraplegia and leukodystrophy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ELOVL1 Knockout HEK293 Cell Line | EDJ-KQ13277 | Human | 64834 | Details Get a Quote |
| ELOVL1 Knockout A-549 Cell Line | EDJ-KQ42696 | Human | 64834 | Details Get a Quote |
| ELOVL1 Knockout HCT 116 Cell Line | EDJ-KQ42697 | Human | 64834 | Details Get a Quote |
| ELOVL1 Knockout HeLa Cell Line | EDJ-KQ42698 | Human | 64834 | Details Get a Quote |
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