MGP Database

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MGP001826

UniProt Annotations

Entry Information
Gene Namefatty acid desaturase 1
Protein EntryFADS1_HUMAN
UniProt IDO60427
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; Synonyms=FADS1CS; IsoId=O60427-1; Sequence=Displayed; Name=2; Synonyms=FADS1AT1; IsoId=O60427-2; Sequence=VSP_047521; Note=No experimental confirmation available.;
DomainThe histidine box domains may contain the active site and/or be involved in metal ion binding.
FunctionIsoform 2 does not exhibit any catalytic activity toward 20:3n-6, but it may enhance FADS2 activity (By similarity). Isoform 1 is a component of a lipid metabolic pathway that catalyzes biosynthesis of highly unsaturated fatty acids (HUFA) from precursor essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3). Catalyzes the desaturation of dihomo-gamma-linoleic acid (DHGLA) (20:3n-6) and eicosatetraenoic acid (20:4n-3) to generate arachidonic acid (AA) (20:4n-6) and eicosapentaenoic acid (EPA)(20:5n-3), respectively. {ECO:0000250, ECO:0000269|PubMed:10601301, ECO:0000269|PubMed:10769175}.
InductionStrongly down-regulated upon differentiation in a neuroblastoma cell line (at protein level). {ECO:0000269|PubMed:22619218}.
InteractionQ9UBM7:DHCR7; NbExp=1; IntAct=EBI-1055473, EBI-1054468; Q9BRP4:PAAF1; NbExp=1; IntAct=EBI-1055473, EBI-1056358;
PathwayLipid metabolism; polyunsaturated fatty acid biosynthesis.
Sequence CautionSequence=BAC11182.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAC11229.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
SimilarityBelongs to the fatty acid desaturase family. {ECO:0000305}.
SimilarityContains 1 cytochrome b5 heme-binding domain. {ECO:0000255|PROSITE-ProRule:PRU00279}.
Subcellular LocationIsoform 1: Endoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Mitochondrion {ECO:0000269|PubMed:22619218}.
Subcellular LocationIsoform 2: Endoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
Tissue SpecificityWidely expressed, with highest levels in liver, brain, adrenal gland and heart. Highly expressed in fetal liver and brain. {ECO:0000269|PubMed:10601301, ECO:0000269|PubMed:10769175, ECO:0000269|PubMed:10860662}.
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