ELOVL7
ELOVL Fatty Acid Elongase 7
Gene Information Card
| Symbol | ELOVL7 |
|---|---|
| Full Name | ELOVL Fatty Acid Elongase 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q11.2 |
| NCBI Gene ID | 79993 ncbi.nlm.nih.gov/gene/79993 |
| Ensembl ID | ENSG00000164172 |
| UniProt ID | Q9NPA0 |
| OMIM ID | 611292 |
| HGNC ID | 26293 |
| Aliases | ELOVL7, FLJ23584, MGC45871 |
Description
ELOVL7 (ELOVL Fatty Acid Elongase 7) is a protein-coding gene that encodes a member of the ELOVL family of elongases, which are involved in the biosynthesis of very long-chain fatty acids (VLCFAs). The enzyme catalyzes the condensation reaction in the elongation cycle of fatty acids, specifically contributing to the production of saturated and monounsaturated VLCFAs. ELOVL7 is expressed in various tissues and has been implicated in lipid metabolism, cancer cell proliferation, and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate Cancer | Overexpression of ELOVL7 promotes lipid synthesis and cell proliferation in prostate cancer cells. | PMID: 25218425 |
| Colorectal Cancer | ELOVL7 upregulation is associated with poor prognosis and may drive tumor growth through altered fatty acid metabolism. | PMID: 29367608 |
| Metabolic Syndrome | Variants in ELOVL7 are linked to altered lipid profiles and risk of metabolic syndrome. | PMID: 21785165 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Liver | 8.3 | Low |
| Prostate | 15.2 | Medium |
| Colon | 10.1 | Medium |
| Brain | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| LNCaP (prostate cancer) | 18.7 | High expression |
| HCT116 (colorectal cancer) | 14.3 | Moderate expression |
| HepG2 (liver cancer) | 7.2 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | 0.01% (gnomAD) | Unknown functional impact |
| c.457G>A (p.Val153Ile) | Missense | 0.02% (gnomAD) | Possibly benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
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) |
Pathways
• Fatty acid elongation (Reactome: R-HSA-2046106)
• Sphingolipid metabolism (KEGG: hsa00600)
Protein Summary
ELOVL7 is a 281-amino acid transmembrane protein localized to the endoplasmic reticulum. It functions as a fatty acid elongase, catalyzing the first and rate-limiting step of the elongation cycle: condensation of malonyl-CoA with a long-chain fatty acyl-CoA. The enzyme is specific for saturated and monounsaturated substrates with chain lengths of C16-C18. ELOVL7 is highly expressed in prostate and colon tissues and is upregulated in several cancers, where it supports membrane synthesis and signaling lipid production.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ELOVL7 Knockout HEK293 Cell Line | EDJ-KQ13280 | Human | 79993 | Details Get a Quote |
| ELOVL7 Knockout A-549 Cell Line | EDJ-KQ41475 | Human | 79993 | Details Get a Quote |
| ELOVL7 Knockout HCT 116 Cell Line | EDJ-KQ42702 | Human | 79993 | Details Get a Quote |
| ELOVL7 Knockout HeLa Cell Line | EDJ-KQ57274 | Human | 79993 | Details Get a Quote |
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