FADS1
Acyl-CoA (8-3)-desaturase
Also known as: D5D, FADS1_HUMAN, FADS6, FADSD5, LLCDL1, TU12
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O60427
- Gene
- FADS1
- Ensembl
- ENSG00000149485
- Chromosome
- 11
- Canonical length
- 444 aa
- Protein class
- Enzymes, FDA approved drug targets, Metabolic proteins, Predicted intracellular proteins, Predicted membrane proteins
OverviewNCBI Gene
The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
444 residues, UniProt reviewed canonical sequence.
>O60427|FADS1
1 MAPDPVAAET AAQGPTPRYF TWDEVAQRSG CEERWLVIDR KVYNISEFTR RHPGGSRVIS
61 HYAGQDATDP FVAFHINKGL VKKYMNSLLI GELSPEQPSF EPTKNKELTD EFRELRATVE
121 RMGLMKANHV FFLLYLLHIL LLDGAAWLTL WVFGTSFLPF LLCAVLLSAV QAQAGWLQHD
181 FGHLSVFSTS KWNHLLHHFV IGHLKGAPAS WWNHMHFQHH AKPNCFRKDP DINMHPFFFA
241 LGKILSVELG KQKKKYMPYN HQHKYFFLIG PPALLPLYFQ WYIFYFVIQR KKWVDLAWMI
301 TFYVRFFLTY VPLLGLKAFL GLFFIVRFLE SNWFVWVTQM NHIPMHIDHD RNMDWVSTQL
361 QATCNVHKSA FNDWFSGHLN FQIEHHLFPT MPRHNYHKVA PLVQSLCAKH GIEYQSKPLL
421 SAFADIIHSL KESGQLWLDA YLHQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against FADS1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 4
- Mean surface accessibility (rSASA)
- 0.24
- Highest tissue expression
- 77 nTPM
Expression across tissuesHPA
Tissue
- choroid plexus: 77 nTPM
- adrenal gland: 64 nTPM
- liver: 49 nTPM
- cerebral cortex: 49 nTPM
- amygdala: 47 nTPM
- hippocampal formation: 40 nTPM
Single-cell type
- thymic myoid cells: 288 nCPM
- alveolar cells type 2: 199 nCPM
- retinal pigment epithelial cells: 188 nCPM
- adrenal cortex cells: 165 nCPM
- megakaryocyte progenitors: 123 nCPM
- schwann cells: 96 nCPM
Immune cell
- intermediate monocyte: 41 nTPM
- classical monocyte: 33 nTPM
- myeloid DC: 28 nTPM
- plasmacytoid DC: 24 nTPM
- non-classical monocyte: 18 nTPM
- total PBMC: 16 nTPM
Brain region
- choroid plexus: 157 nTPM
- thalamus: 156 nTPM
- midbrain: 141 nTPM
- hypothalamus: 134 nTPM
- medulla oblongata: 132 nTPM
- white matter: 125 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.45
- gnomAD pLI
- 0.37
- gnomAD missense Z
- 3.67
- DepMap mean gene effect
- 0.05
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- alpha-linolenic acid metabolic process
- cell-cell signaling
- cellular response to starvation
- icosanoid biosynthetic process
- linoleic acid metabolic process
- lipid metabolic process
- long-chain fatty acid biosynthetic process
- phospholipid biosynthetic process
- regulation of cell differentiation
- regulation of DNA-templated transcription
- unsaturated fatty acid biosynthetic process
Molecular functions
- acyl-CoA 6-desaturase activity
- C-5 sterol desaturase activity
- oxidoreductase activity
- oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water
- acyl-CoA (8-3)-desaturase activity
- omega-6 fatty acid desaturase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads FADS1 as an antibody target. Whether an autoantibody or antibody against FADS1 could matter depends on whether native FADS1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
FADS1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label FADS1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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