ELOVL1 Gene

Name	ELOVL fatty acid elongase 1
Description	Enables fatty acid elongase activity. Involved in fatty acid biosynthetic process and sphingolipid biosynthetic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Mar 2025]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n ELOVL1 is a key microsomal fatty acid elongase that catalyzes the extension of saturated and monounsaturated long‐chain acyl–CoA substrates into very long–chain fatty acids (VLCFAs) that are essential for diverse cellular functions. In vitro analyses have demonstrated that ELOVL1 exhibits robust activity toward C20– and C22–CoAs and is critical for the biosynthesis of C24 sphingolipids, which contribute to the organization of plasma membrane microdomains and proper signaling."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In pathological settings, such as in X‐linked adrenoleukodystrophy, ELOVL1 catalyzes the elongation step responsible for the generation of both saturated (C26:0) and monounsaturated (C26:1) VLCFAs; notably, reduction of ELOVL1 expression leads to lower levels of these potentially pathogenic lipids, highlighting the enzyme as a promising therapeutic target."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " Genetic models further underscore its physiological importance; mice lacking Elovl1 fail to generate ceramides with very long–chain fatty acids (≥C26) and exhibit severe defects in the formation of lipid lamellae in the epidermis, ultimately compromising the skin barrier and leading to neonatal lethality."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Moreover, pharmacological studies have shown that specific fatty acids—such as those present in Lorenzo’s oil (a unique 4:1 mixture of glyceryl trioleate and glyceryl trierucate)—act as mixed inhibitors of ELOVL1, reducing the elongation of VLCFAs."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " In addition, ELOVL1 is instrumental in the synthesis of the saturated VLCFAs that are incorporated into meibum lipids; disruption of its activity in the meibomian glands results in shortened acyl chains, which is associated with dry eye phenotypes and subsequent ocular surface abnormalities."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Overall, these studies establish ELOVL1 as an essential enzyme regulating the production of VLCFAs that are critical for membrane composition, cell signaling, and barrier functions. Its central role in both physiological and pathological lipid metabolism points to ELOVL1 as a potential target for therapeutic intervention in conditions ranging from dermatological barrier defects to neurodegenerative diseases such as X‐ALD.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Yusuke Ohno, Shota Suto, Masao Yamanaka, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ELOVL1 production of C24 acyl-CoAs is linked to C24 sphingolipid synthesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.1005572107"}], "href": "https://doi.org/10.1073/pnas.1005572107"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20937905"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20937905"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Rob Ofman, Inge M E Dijkstra, Carlo W T van Roermund, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EMBO Mol Med (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/emmm.201000061"}], "href": "https://doi.org/10.1002/emmm.201000061"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20166112"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20166112"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Takayuki Sassa, Yusuke Ohno, Shotaro Suzuki, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Impaired epidermal permeability barrier in mice lacking elovl1, the gene responsible for very-long-chain fatty acid production."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Biol (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1128/MCB.00192-13"}], "href": "https://doi.org/10.1128/MCB.00192-13"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23689133"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23689133"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Takayuki Sassa, Takeshi Wakashima, Yusuke Ohno, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Lorenzo's oil inhibits ELOVL1 and lowers the level of sphingomyelin with a saturated very long-chain fatty acid."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Lipid Res (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1194/jlr.M044586"}], "href": "https://doi.org/10.1194/jlr.M044586"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24489110"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24489110"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Takayuki Sassa, Masato Tadaki, Hiroshi Kiyonari, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Very long-chain tear film lipids produced by fatty acid elongase ELOVL1 prevent dry eye disease in mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "FASEB J (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1096/fj.201700947R"}], "href": "https://doi.org/10.1096/fj.201700947R"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29401594"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29401594"}]}]}]}
Synonyms	CGI-88
Proteins	ELOV1_HUMAN
NCBI Gene ID	64834
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

ELOVL1 has 6,479 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 115 datasets.

Click the + buttons to view associations for ELOVL1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

ELOVL1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of ELOVL1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of ELOVL1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of ELOVL1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of ELOVL1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of ELOVL1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of ELOVL1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of ELOVL1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ELOVL1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ELOVL1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of ELOVL1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of ELOVL1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of ELOVL1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with ELOVL1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with ELOVL1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of ELOVL1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of ELOVL1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of ELOVL1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing ELOVL1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing ELOVL1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with ELOVL1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with ELOVL1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of ELOVL1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with ELOVL1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with ELOVL1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with ELOVL1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of ELOVL1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by ELOVL1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with ELOVL1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with ELOVL1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with ELOVL1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with ELOVL1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with ELOVL1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at ELOVL1 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of ELOVL1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of ELOVL1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing ELOVL1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of ELOVL1 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with ELOVL1 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing ELOVL1 from the GeneSigDB Published Gene Signatures dataset.
	GEO Signatures of Differentially Expressed Genes for Diseases	disease perturbations changing expression of ELOVL1 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.