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MGP005796

UniProt Annotations

Entry Information
Gene NameELOVL fatty acid elongase 1
Protein EntryELOV1_HUMAN
UniProt IDQ9BW60
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BW60-1; Sequence=Displayed; Name=2; IsoId=Q9BW60-2; Sequence=VSP_045436;
Catalytic ActivityA very-long-chain acyl-CoA + malonyl-CoA = CoA + a very-long-chain 3-oxoacyl-CoA + CO(2).
DomainThe di-lysine motif may confer endoplasmic reticulum localization. {ECO:0000250}.
FunctionCondensing enzyme that catalyzes the synthesis of both saturated and monounsaturated very long chain fatty acids (VLCFAs). Exhibits activity toward saturated C18 to C26 acyl-CoA substrates, with the highest activity towards C22:0 acyl-CoA. Important for saturated C24:0 and monounsaturated C24:1 sphingolipid synthesis. Indirectly inhibits RPE65 via production of VLCFAs. {ECO:0000269|PubMed:20166112, ECO:0000269|PubMed:20937905}.
InteractionO75832:PSMD10; NbExp=1; IntAct=EBI-1050331, EBI-752185; Q6IBS0:TWF2; NbExp=1; IntAct=EBI-1050331, EBI-722204;
Sequence CautionSequence=AAD34083.1; Type=Frameshift; Positions=189; Evidence={ECO:0000305};
SimilarityBelongs to the ELO family. {ECO:0000305}.
Subcellular LocationEndoplasmic reticulum membrane {ECO:0000269|PubMed:20937905}; Multi-pass membrane protein {ECO:0000269|PubMed:20937905}.
SubunitInteracts with LASS2, TECR and HSD17B12. {ECO:0000269|PubMed:20937905}.
Tissue SpecificityUbiquitous. {ECO:0000269|PubMed:20937905}.
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