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Details on Person UniProt:Q9GZR5 ELOVL4

Class:IdReferenceGeneProduct:54270
_chainChangeLogchain:1-314 added on Fri February 6 2015
_displayNameUniProt:Q9GZR5 ELOVL4
_timestamp2025-05-21 21:48:51
chainchain:1-314
checksumB2EBCE54D868E96E
commentFUNCTION Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that catalyzes the synthesis of very long chain saturated (VLC-SFA) and polyunsaturated (PUFA) fatty acids that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. May play a critical role in early brain and skin development.CATALYTIC ACTIVITY a very-long-chain acyl-CoA + malonyl-CoA + H(+) = a very-long-chain 3-oxoacyl-CoA + CO2 + CoACATALYTIC ACTIVITY tetracosanoyl-CoA + malonyl-CoA + H(+) = 3-oxohexacosanoyl-CoA + CO2 + CoACATALYTIC ACTIVITY hexacosanoyl-CoA + malonyl-CoA + H(+) = 3-oxooctacosanyol-CoA + CO2 + CoACATALYTIC ACTIVITY octacosanoyl-CoA + malonyl-CoA + H(+) = 3-oxo-triacontanoyl-CoA + CO2 + CoACATALYTIC ACTIVITY triacontanoyl-CoA + malonyl-CoA + H(+) = 3-oxo-dotriacontanoyl-CoA + CO2 + CoACATALYTIC ACTIVITY (19Z,22Z,25Z,28Z,31Z)-tetratriacontapentaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(21Z,24Z,27Z,30Z,33Z)-hexatriacontapentaenoyl-CoA + CO2 + CoACATALYTIC ACTIVITY (4Z,7Z,10Z,13Z,16Z,19Z)-docosahexaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(6Z,9Z,12Z,15Z,18Z,21Z)-tetracosahexaenoyl-CoA + CO2 + CoACATALYTIC ACTIVITY (7Z,10Z,13Z,16Z)-docosatetraenoyl-CoA + malonyl-CoA + H(+) = (9Z,12Z,15Z,18Z)-3-oxotetracosatetraenoyl-CoA + CO2 + CoACATALYTIC ACTIVITY (11Z,14Z,17Z,20Z,23Z)-hexacosapentaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(13Z,16Z,19Z,22Z,25Z)-octacosapentaenoyl-CoA + CO2 + CoACATALYTIC ACTIVITY (13Z,16Z,19Z,22Z,25Z)-octacosapentaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(15Z,18Z,21Z,24Z,27Z)-triacontapentaenoyl-CoA + CO2 + CoACATALYTIC ACTIVITY (15Z,18Z,21Z,24Z,27Z)-triacontapentaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(17Z,20Z,23Z,26Z,29Z)-dotriacontapentaenoyl-CoA + CO2 + CoACATALYTIC ACTIVITY (17Z,20Z,23Z,26Z,29Z)-dotriacontapentaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(19Z,22Z,25Z,28Z,31Z)-tetratriacontapentaenoyl-CoA + CO2 + CoACATALYTIC ACTIVITY (21Z,24Z,27Z,30Z,33Z)-hexatriacontapentaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(23Z,26Z,29Z,32Z,35Z)-octatriacontapentaenoyl-CoA + CO2 + CoACATALYTIC ACTIVITY (11Z,14Z,17Z,20Z)-hexacosatetraenoyl-CoA + malonyl-CoA + H(+) = (13Z,16Z,19Z,22Z)-3-oxooctacosatetraenoyl-CoA + CO2 + CoACATALYTIC ACTIVITY (13Z,16Z,19Z,22Z)-octacosatetraenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(15Z,18Z,21Z,24Z)-triacontatetraenoyl-CoA + CO2 + CoACATALYTIC ACTIVITY (15Z,18Z,21Z,24Z)-triacontatetraenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(17Z,20Z,23Z,26Z)-dotriacontatetraenoyl-CoA + CO2 + CoACATALYTIC ACTIVITY (17Z,20Z,23Z,26Z)-dotriacontatetraenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(19Z,22Z,25Z,28Z)-tetratriacontatetraenoyl-CoA + CO2 + CoACATALYTIC ACTIVITY (19Z,22Z,25Z,28Z)-tetratriacontatetraenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(21Z,24Z,27Z,30Z)-hexatriacontatetraenoyl-CoA + CO2 + CoACATALYTIC ACTIVITY (21Z,24Z,27Z,30Z)-hexatriacontatetraenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(23Z,26Z,29Z,32Z)-octatriacontatetraenoyl-CoA + CO2 + CoACATALYTIC ACTIVITY (6Z,9Z,12Z,15Z,18Z,21Z)-tetracosahexaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(8Z,11Z,14Z,17Z,20Z,23Z)-hexacosahexaenoyl-CoA + CO2 + CoACATALYTIC ACTIVITY (8Z,11Z,14Z,17Z,20Z,23Z)-hexacosahexaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(10Z,13Z,16Z,19Z,22Z,25Z)-octacosahexaenoyl-CoA + CO2 + CoACATALYTIC ACTIVITY (10Z,13Z,16Z,19Z,22Z,25Z)-octacosahexaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(12Z,15Z,18Z,21Z,24Z,27Z)-triacontahexaenoyl-CoA + CO2 + CoACATALYTIC ACTIVITY (12Z,15Z,18Z,21Z,24Z,27Z)-triacontahexaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(14Z,17Z,20Z,23Z,26Z,29Z)-dotriacontahexaenoyl-CoA + CO2 + CoACATALYTIC ACTIVITY (14Z,17Z,20Z,23Z,26Z,29Z)-dotriacontahexaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(16Z,19Z,22Z,25Z,28Z,31Z)-tetratriacontahexaenoyl-CoA + CO2 + CoACATALYTIC ACTIVITY (16Z,19Z,22Z,25Z,28Z,31Z)-tetratriacontahexaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(18Z,21Z,24Z,27Z,30Z,33Z)-hexatriacontahexaenoyl-CoA + CO2 + CoACATALYTIC ACTIVITY (9Z,12Z,15Z,18Z,21Z)-tetracosapentaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(11Z,14Z,17Z,20Z,23Z)-hexacosapentaenoyl-CoA + CO2 + CoAPATHWAY Lipid metabolism; fatty acid biosynthesis.SUBUNIT Oligomer.INTERACTION Expressed in the retina and at much lower level in the brain. Ubiquitous, highest expression in thymus, followed by testis, small intestine, ovary, and prostate. Little or no expression in heart, lung, liver, or leukocates.DOMAIN The C-terminal di-lysine motif confers endoplasmic reticulum localization.PTM N-glycosylated.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the ELO family. ELOVL4 subfamily.
descriptionrecommendedName: fullName evidence="2"Very long chain fatty acid elongase 4 ecNumber evidence="2 8 10"2.3.1.199 alternativeName: fullName evidence="2"3-keto acyl-CoA synthase ELOVL4 alternativeName: fullName evidence="2"ELOVL fatty acid elongase 4 shortName evidence="2"ELOVL FA elongase 4 alternativeName: fullName evidence="2"Elongation of very long chain fatty acids protein 4 alternativeName: fullName evidence="2"Very long chain 3-ketoacyl-CoA synthase 4 alternativeName: fullName evidence="2"Very long chain 3-oxoacyl-CoA synthase 4
geneNameELOVL4
identifierQ9GZR5
isSequenceChangedFALSE
keywordDisease variant
Endoplasmic reticulum
Fatty acid biosynthesis
Fatty acid metabolism
Glycoprotein
Ichthyosis
Intellectual disability
Lipid biosynthesis
Lipid metabolism
Membrane
Neurodegeneration
Proteomics identification
Reference proteome
Spinocerebellar ataxia
Stargardt disease
Transferase
Transmembrane
Transmembrane helix
modified[InstanceEdit:9836292] Weiser, Joel, 2023-05-25
[InstanceEdit:9852000] Weiser, Joel, 2023-11-03
[InstanceEdit:9862192] Weiser, Joel, 2024-02-26
[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
[InstanceEdit:9939033] Weiser, Joel, 2025-02-21
[InstanceEdit:9948485] Weiser, Joel, 2025-05-21
nameELOVL4
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:9000565] ENSEMBL:ENSG00000118402 ELOVL4 [Homo sapiens]
secondaryIdentifierELOV4_HUMAN
B2R6B5
Q5TCS2
Q86YJ1
Q9H139
sequenceLength314
species[Species:48887] Homo sapiens
(referenceEntity)[EntityWithAccessionedSequence:548705] ELOVL4 [endoplasmic reticulum membrane] [Homo sapiens]
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No pathways have been reviewed or authored by UniProt:Q9GZR5 ELOVL4 (54270)