Seroatlas · Human Serome Atlas

FADS3

Fatty acid desaturase 3

Also known as: CYB5RP, FADS3_HUMAN, LLCDL3

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9Y5Q0
Gene: FADS3
Ensembl: ENSG00000221968
Chromosome: 11
Canonical length: 445 aa
Protein class: Metabolic proteins, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Nucleoli fibrillar center

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

445 residues, UniProt reviewed canonical sequence.

>Q9Y5Q0|FADS3
     1  MGGVGEPGPR EGPAQPGAPL PTFCWEQIRA HDQPGDKWLV IERRVYDISR WAQRHPGGSR
    61  LIGHHGAEDA TDAFRAFHQD LNFVRKFLQP LLIGELAPEE PSQDGPLNAQ LVEDFRALHQ
   121  AAEDMKLFDA SPTFFAFLLG HILAMEVLAW LLIYLLGPGW VPSALAAFIL AISQAQSWCL
   181  QHDLGHASIF KKSWWNHVAQ KFVMGQLKGF SAHWWNFRHF QHHAKPNIFH KDPDVTVAPV
   241  FLLGESSVEY GKKKRRYLPY NQQHLYFFLI GPPLLTLVNF EVENLAYMLV CMQWADLLWA
   301  ASFYARFFLS YLPFYGVPGV LLFFVAVRVL ESHWFVWITQ MNHIPKEIGH EKHRDWVSSQ
   361  LAATCNVEPS LFTNWFSGHL NFQIEHHLFP RMPRHNYSRV APLVKSLCAK HGLSYEVKPF
   421  LTALVDIVRS LKKSGDIWLD AYLHQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FADS3 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): 0.25
Highest tissue expression: 112 nTPM

Expression across tissuesHPA

Tissue

blood vessel: 112 nTPM
adipose tissue: 99 nTPM
choroid plexus: 92 nTPM
heart muscle: 84 nTPM
breast: 69 nTPM
adrenal gland: 68 nTPM

Single-cell type

alveolar cells type 1: 251 nCPM
extravillous trophoblasts: 180 nCPM
vascular smooth muscle cells: 122 nCPM
schwann cells: 104 nCPM
astrocytes: 86 nCPM
adipocytes: 85 nCPM

Immune cell

naive B-cell: 8.8 nTPM
memory B-cell: 7.7 nTPM
eosinophil: 5.7 nTPM
memory CD8 T-cell: 2.2 nTPM
gdT-cell: 1.6 nTPM
MAIT T-cell: 1.4 nTPM

Brain region

choroid plexus: 74 nTPM
cerebral cortex: 40 nTPM
pons: 40 nTPM
hypothalamus: 35 nTPM
basal ganglia: 35 nTPM
hippocampal formation: 34 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): 0.62
gnomAD pLI: 0
gnomAD missense Z: 2.31
DepMap mean gene effect: -0.02
DepMap dependency class: selective

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

Molecular functions

with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water
oxidoreductase activity
acting on paired donors

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads FADS3 as an antibody target. Whether an autoantibody or antibody against FADS3 could matter depends on whether native FADS3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FADS3 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 FADS3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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