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-sp... See more...

Aliases for FADS3 Gene

Aliases for FADS3 Gene

  • Fatty Acid Desaturase 3 2 3 4 5
  • CYB5RP 2 3 4
  • Delta(13) Fatty Acid Desaturase 3 4
  • Delta(13) Desaturase 3 4
  • Delta-9-Desaturase 2 3
  • Linoleoyl-CoA Desaturase (Delta-9-Desaturase)-Like 3 3
  • Cytochrome B5-Related Protein 3
  • Delta-9 Fatty Acid Desaturase 3
  • EC 1.14.19.- 4
  • EC 1.14.19 51
  • LLCDL3 3
  • FADS3 5

External Ids for FADS3 Gene

Previous HGNC Symbols for FADS3 Gene

  • LLCDL3

Previous GeneCards Identifiers for FADS3 Gene

  • GC11M064126
  • GC11M063216
  • GC11M061891
  • GC11M061416
  • GC11M061324
  • GC11M061397
  • GC11M061640
  • GC11M057969

Summaries for FADS3 Gene

Entrez Gene Summary for FADS3 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]

GeneCards Summary for FADS3 Gene

FADS3 (Fatty Acid Desaturase 3) is a Protein Coding gene. Diseases associated with FADS3 include Fetal Akinesia Deformation Sequence 4 and Fetal Akinesia Deformation Sequence 1. Gene Ontology (GO) annotations related to this gene include iron ion binding and 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. An important paralog of this gene is FADS2.

UniProtKB/Swiss-Prot Summary for FADS3 Gene

  • Acts as a methyl-end fatty acyl coenzyme A (CoA) desaturase that introduces a cis double bond between the preexisting double bond and the terminal methyl group of the fatty acyl chain. Desaturates (11E)-octadecenoate (trans-vaccenoate) at carbon 13 to generate (11E,13Z)-octadecadienoate, likely participating in the biohydrogenation pathway of linoleic acid (LA) (18:2n-6).

Additional gene information for FADS3 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FADS3 Gene

Genomics for FADS3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FADS3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J061886 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +3.4 3415 8.4 ZBTB33 HNRNPL ATF7 IKZF1 KDM1A JUND LARP7 MTA2 PHF21A RFX1 FADS3 BEST1 RAB3IL1 FADS2 lnc-RAB3IL1-1 piR-38352-083 FADS1
GH11J061893 Enhancer 0.7 ENCODE dbSUPER 600.7 -1.8 -1751 1.6 ATF7 NFE2 ZNF316 MAFG MAX ZNF592 MAFK ZNF146 MAFF ATF2 FADS3 piR-57460-092 RAB3IL1
GH11J061916 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12 -28.5 -28536 10.3 HNRNPL GATAD2A TEAD4 TFE3 LEF1 IKZF1 KDM1A ZNF692 JUND MTA2 RAB3IL1 CSKMT CPSF7 TUT1 TAF6L WDR74 GANAB SNHG1 FADS3 BEST1
GH11J061826 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.2 +59.9 59855 12.6 SP1 HNRNPL GATAD2A CTCF PRDM10 LEF1 IKZF1 POLR2A BACH1 JUND FADS2 FADS1 CYB561A3 FADS3 TMEM109 AHNAK BEST1 POLR2G FEN1 INCENP
GH11J062081 Promoter/Enhancer 1.2 Ensembl ENCODE 11.8 -189.7 -189735 0.7 CREB1 GATAD2A CTCF TEAD4 IKZF1 JUND FOXA1 ZNF143 REST ZNF24 LINC02733 BEST1 RAB3IL1 FADS3 FTH1 FADS1 piR-57194 INCENP
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FADS3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FADS3

Top Transcription factor binding sites by QIAGEN in the FADS3 gene promoter:
  • AML1a
  • AP-4
  • AREB6
  • c-Ets-1
  • E47
  • HSF2
  • Max1
  • MyoD
  • Olf-1
  • STAT5A

Genomic Locations for FADS3 Gene

Genomic Locations for FADS3 Gene
chr11:61,873,519-61,892,224
(GRCh38/hg38)
Size:
18,706 bases
Orientation:
Minus strand
chr11:61,640,991-61,659,523
(GRCh37/hg19)
Size:
18,533 bases
Orientation:
Minus strand

Genomic View for FADS3 Gene

Genes around FADS3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FADS3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FADS3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FADS3 Gene

Proteins for FADS3 Gene

  • Protein details for FADS3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5Q0-FADS3_HUMAN
    Recommended name:
    Fatty acid desaturase 3
    Protein Accession:
    Q9Y5Q0
    Secondary Accessions:
    • O60426

    Protein attributes for FADS3 Gene

    Size:
    445 amino acids
    Molecular mass:
    51145 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC23396.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
    Miscellaneous:
    • A 28 kDa isoform is expressed in lung, kidney, pancreas and ovary (at protein level).

neXtProt entry for FADS3 Gene

Selected DME Specific Peptides for FADS3 Gene

Q9Y5Q0:
  • LLIGELAPE
  • TQMNHIP
  • APLVKSLCAKHG
  • DKWLVIER
  • WFSGHLNFQIEHHLFP
  • YFFLIGPPLL
  • FVMGQLKGFSAHWWNFRHFQHHAKPNIFHKDPDVTVAPVF
  • LQHDLGH
  • EDATDAF

Post-translational modifications for FADS3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for FADS3 Gene

Gene Families for FADS3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for FADS3 Gene

Suggested Antigen Peptide Sequences for FADS3 Gene

GenScript: Design optimal peptide antigens:
  • Cytochrome b5-related protein (FADS3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y5Q0

UniProtKB/Swiss-Prot:

FADS3_HUMAN :
  • The histidine box domains may contain the active site and/or be involved in metal ion binding.
  • Belongs to the fatty acid desaturase type 1 family.
Domain:
  • The histidine box domains may contain the active site and/or be involved in metal ion binding.
Family:
  • Belongs to the fatty acid desaturase type 1 family.
genes like me logo Genes that share domains with FADS3: view

Function for FADS3 Gene

Molecular function for FADS3 Gene

UniProtKB/Swiss-Prot Function:
Acts as a methyl-end fatty acyl coenzyme A (CoA) desaturase that introduces a cis double bond between the preexisting double bond and the terminal methyl group of the fatty acyl chain. Desaturates (11E)-octadecenoate (trans-vaccenoate) at carbon 13 to generate (11E,13Z)-octadecadienoate, likely participating in the biohydrogenation pathway of linoleic acid (LA) (18:2n-6).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(11E)-octadecenoyl-CoA + 2 [Fe(II)-cytochrome b5] + 2 H(+) + O2 = (11E,13Z)-octadecadienoyl-CoA + 2 [Fe(III)-cytochrome b5] + 2 H2O; Xref=Rhea:RHEA:46056, Rhea:RHEA-COMP:10438, Rhea:RHEA-COMP:10439, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034, ChEBI:CHEBI:74296, ChEBI:CHEBI:85650; Evidence={ECO:0000250|UniProtKB:Q8K1P9};.

Enzyme Numbers (IUBMB) for FADS3 Gene

Phenotypes From GWAS Catalog for FADS3 Gene

Gene Ontology (GO) - Molecular Function for FADS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with FADS3: view
genes like me logo Genes that share phenotypes with FADS3: view

Animal Models for FADS3 Gene

MGI Knock Outs for FADS3:
  • Fads3 Fads3<tm1a(KOMP)Wtsi>
  • Fads3 Fads3<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FADS3

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FADS3 Gene

Localization for FADS3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FADS3 Gene

Endoplasmic reticulum membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FADS3 gene
Compartment Confidence
endoplasmic reticulum 4
plasma membrane 3
peroxisome 3
extracellular 2
nucleus 2
cytoskeleton 1
mitochondrion 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FADS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA,NAS 10860662
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with FADS3: view

Pathways & Interactions for FADS3 Gene

PathCards logo

SuperPathways for FADS3 Gene

No Data Available

UniProtKB/Swiss-Prot Q9Y5Q0-FADS3_HUMAN

  • Pathway: Lipid metabolism; polyunsaturated fatty acid biosynthesis.

Gene Ontology (GO) - Biological Process for FADS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006633 fatty acid biosynthetic process IEA --
GO:0006636 unsaturated fatty acid biosynthetic process NAS 10860662
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with FADS3: view

No data available for Pathways by source and SIGNOR curated interactions for FADS3 Gene

Drugs & Compounds for FADS3 Gene

(1) Drugs for FADS3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
heme Pharma Agonist 0
genes like me logo Genes that share compounds with FADS3: view

Transcripts for FADS3 Gene

mRNA/cDNA for FADS3 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FADS3

Alternative Splicing Database (ASD) splice patterns (SP) for FADS3 Gene

No ASD Table

Relevant External Links for FADS3 Gene

GeneLoc Exon Structure for
FADS3

Expression for FADS3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FADS3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FADS3 Gene

This gene is overexpressed in Placenta (52.1) and Testis (15.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FADS3 Gene



Protein tissue co-expression partners for FADS3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FADS3

SOURCE GeneReport for Unigene cluster for FADS3 Gene:

Hs.21765

mRNA Expression by UniProt/SwissProt for FADS3 Gene:

Q9Y5Q0-FADS3_HUMAN
Tissue specificity: Highly expressed in various organs and tissues including liver, kidney, brain, lung, pancreas, testis, ovary and skeletal muscle (at protein level).

Evidence on tissue expression from TISSUES for FADS3 Gene

  • Muscle(4.5)
  • Nervous system(3.5)
  • Heart(2.3)
  • Liver(2.2)
  • Intestine(2)
genes like me logo Genes that share expression patterns with FADS3: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for FADS3 Gene

Orthologs for FADS3 Gene

This gene was present in the common ancestor of animals.

Orthologs for FADS3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FADS3 30 31
  • 99.78 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FADS3 30 31
  • 89.09 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FADS3 30 31
  • 88.91 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fads3 30 17 31
  • 87.94 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fads3 30
  • 87.79 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia FADS3 31
  • 81 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FADS3 31
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FADS2 31
  • 61 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 61 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii fads2 31
  • 54 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea fat-3 31
  • 25 (a)
ManyToMany
fat-4 31
  • 22 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 26 (a)
OneToMany
Species where no ortholog for FADS3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for FADS3 Gene

ENSEMBL:
Gene Tree for FADS3 (if available)
TreeFam:
Gene Tree for FADS3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FADS3: view image

Paralogs for FADS3 Gene

Paralogs for FADS3 Gene

(4) SIMAP similar genes for FADS3 Gene using alignment to 8 proteins:

  • FADS3_HUMAN
  • E9PKP8_HUMAN
  • E9PPZ4_HUMAN
  • E9PQC2_HUMAN
  • E9PS00_HUMAN
  • F5H2V5_HUMAN
  • H0YCN1_HUMAN
  • H0YED5_HUMAN
genes like me logo Genes that share paralogs with FADS3: view

Variants for FADS3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FADS3 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs34511441 - p.Asn216Lys
rs35479241 - p.Lys192Asn

Additional dbSNP identifiers (rs#s) for FADS3 Gene

Structural Variations from Database of Genomic Variants (DGV) for FADS3 Gene

Variant ID Type Subtype PubMed ID
dgv217e199 CNV deletion 23128226
esv3626586 CNV loss 21293372
nsv468585 CNV loss 19166990
nsv528697 CNV loss 19592680
nsv555171 CNV loss 21841781

Variation tolerance for FADS3 Gene

Residual Variation Intolerance Score: 21.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.64; 13.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FADS3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FADS3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FADS3 Gene

Disorders for FADS3 Gene

MalaCards: The human disease database

(4) MalaCards diseases for FADS3 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search FADS3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FADS3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with FADS3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FADS3 Gene

Publications for FADS3 Gene

  1. The fatty acid desaturase 3 gene encodes for different FADS3 protein isoforms in mammalian tissues. (PMID: 19752397) Pédrono F … Legrand P (Journal of lipid research 2010) 3 4 23
  2. Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI Study. (PMID: 19148276) Tanaka T … Ferrucci L (PLoS genetics 2009) 3 23 41
  3. cDNA cloning, genomic structure, and chromosomal localization of three members of the human fatty acid desaturase family. (PMID: 10860662) Marquardt A … Weber BH (Genomics 2000) 3 4 23
  4. Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. (PMID: 21829377) Lemaitre RN … Steffen LM (PLoS genetics 2011) 3 41
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41

Products for FADS3 Gene

Sources for FADS3 Gene