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Aliases for FADS1 Gene

Aliases for FADS1 Gene

  • Fatty Acid Desaturase 1 2 3 5
  • Delta(5) Desaturase 3 4
  • Delta-5 Desaturase 2 4
  • FADSD5 3 4
  • D5D 3 4
  • Linoleoyl-CoA Desaturase (Delta-6-Desaturase)-Like 1 3
  • Delta(5) Fatty Acid Desaturase 4
  • Delta-5 Fatty Acid Desaturase 3
  • EC 1.14.19.- 4
  • EC 1.14.19 61
  • LLCDL1 3
  • FADS6 3
  • TU12 3

External Ids for FADS1 Gene

Previous HGNC Symbols for FADS1 Gene

  • LLCDL1

Previous GeneCards Identifiers for FADS1 Gene

  • GC11M064080
  • GC11M063143
  • GC11M061817
  • GC11M061342
  • GC11M061323
  • GC11M061567
  • GC11M057895

Summaries for FADS1 Gene

Entrez Gene Summary for FADS1 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 FADS1 Gene

FADS1 (Fatty Acid Desaturase 1) is a Protein Coding gene. Diseases associated with FADS1 include Best Vitelliform Macular Dystrophy and Lung Mucoepidermoid Carcinoma. Among its related pathways are Fatty acid metabolism and alpha-linolenic (omega3) and linoleic (omega6) acid metabolism. GO annotations related to this gene include oxidoreductase activity and heme binding. An important paralog of this gene is FADS2.

UniProtKB/Swiss-Prot for FADS1 Gene

  • Isoform 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.

Gene Wiki entry for FADS1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FADS1 Gene

Genomics for FADS1 Gene

Regulatory Elements for FADS1 Gene

Enhancers for FADS1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G061826 2 FANTOM5 Ensembl ENCODE dbSUPER 14.6 -3.1 -3052 12.6 HDGF PKNOX1 FOXA2 CREB3L1 ARNT AGO1 WRNIP1 SIN3A ARID4B YY1 FADS2 MTA2 FADS1 TMEM138 EML3 STX5 NXF1 TMEM179B INTS5 CYB561A3
GH11G061904 1.1 Ensembl ENCODE 17.3 -75.7 -75660 1.4 ELF3 PKNOX1 ARID4B DMAP1 RAD21 RARA PCBP1 CREM MIXL1 THAP11 FADS1 BEST1 FADS2 FADS3 PIR40157
GH11G061921 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.6 -94.6 -94582 4.0 ATF1 FOXA2 ARID4B ZNF48 SP5 NCOA1 REST KAT8 GLIS1 NR2C1 RAB3IL1 FADS3 BEST1 FADS1 FTH1 DKFZP434K028 MYRF GC11P061939 PIR40157
GH11G062104 1.6 FANTOM5 Ensembl ENCODE 10.8 -276.1 -276124 2.5 HDAC1 ATF1 TBL1XR1 SIN3A ZBTB40 EGR1 ELK1 CEBPB NR2F2 POLR2H FTH1 INCENP RAB3IL1 FADS3 BEST1 FADS1 DKFZP434K028 MYRF DAGLA GC11M062088
GH11G061791 1.4 ENCODE dbSUPER 12.2 +36.6 36593 3.1 HDGF PKNOX1 CREB3L1 ARNT AGO1 WRNIP1 ARID4B SIN3A DMAP1 ZBTB7B FADS2 MIR1908 FADS1 EEF1G BEST1 EML3 FEN1 TMEM258
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FADS1 on UCSC Golden Path with GeneCards custom track

Promoters for FADS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000040343 818 2601 HDGF PKNOX1 AGO1 WRNIP1 ARID4B SIN3A ZNF48 YY1 GLIS2 ZNF143

Genomic Location for FADS1 Gene

Chromosome:
11
Start:
61,799,625 bp from pter
End:
61,829,318 bp from pter
Size:
29,694 bases
Orientation:
Minus strand

Genomic View for FADS1 Gene

Genes around FADS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FADS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FADS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FADS1 Gene

Proteins for FADS1 Gene

  • Protein details for FADS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60427-FADS1_HUMAN
    Recommended name:
    Fatty acid desaturase 1
    Protein Accession:
    O60427
    Secondary Accessions:
    • A8K0I7
    • B2RAI0
    • Q53GM5
    • Q8N3A6
    • Q8NCC7
    • Q8NCG0
    • Q96I39
    • Q96SV3
    • Q96T10
    • Q9NRP8
    • Q9NYX1

    Protein attributes for FADS1 Gene

    Size:
    444 amino acids
    Molecular mass:
    51964 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=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};

    Alternative splice isoforms for FADS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FADS1 Gene

Selected DME Specific Peptides for FADS1 Gene

O60427:
  • PASWWNHMHFQHHAKPNCF
  • LWLDAYL
  • FVIGHLKG
  • TQMNHIP
  • QAGWLQHD
  • WFSGHLNFQIEHHLFP

Post-translational modifications for FADS1 Gene

  • Ubiquitination at Lys41, Lys83, isoforms=2106, and Lys398
  • Modification sites at PhosphoSitePlus

Domains & Families for FADS1 Gene

Gene Families for FADS1 Gene

Protein Domains for FADS1 Gene

Suggested Antigen Peptide Sequences for FADS1 Gene

Graphical View of Domain Structure for InterPro Entry

O60427

UniProtKB/Swiss-Prot:

FADS1_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 FADS1: view

Function for FADS1 Gene

Molecular function for FADS1 Gene

UniProtKB/Swiss-Prot Function:
Isoform 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.
UniProtKB/Swiss-Prot Induction:
Strongly down-regulated upon differentiation in a neuroblastoma cell line (at protein level).

Enzyme Numbers (IUBMB) for FADS1 Gene

Gene Ontology (GO) - Molecular Function for FADS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000248 C-5 sterol desaturase activity TAS 10601301
GO:0016491 oxidoreductase activity IDA 10601301
GO:0016717 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 IEA --
GO:0045485 omega-6 fatty acid desaturase activity TAS --
genes like me logo Genes that share ontologies with FADS1: view
genes like me logo Genes that share phenotypes with FADS1: view

Animal Models for FADS1 Gene

MGI Knock Outs for FADS1:

Animal Model Products

  • Taconic Biosciences Mouse Models for FADS1

CRISPR Products

miRNA for FADS1 Gene

miRTarBase miRNAs that target FADS1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FADS1 Gene

Localization for FADS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FADS1 Gene

Isoform 1: Endoplasmic reticulum membrane; Multi-pass membrane protein. Mitochondrion.
Isoform 2: 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 FADS1 gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 4
plasma membrane 3
extracellular 2
peroxisome 2
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for FADS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005739 mitochondrion IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA,NAS 10601301
genes like me logo Genes that share ontologies with FADS1: view

Pathways & Interactions for FADS1 Gene

genes like me logo Genes that share pathways with FADS1: view

UniProtKB/Swiss-Prot O60427-FADS1_HUMAN

  • Pathway: Lipid metabolism; polyunsaturated fatty acid biosynthesis.

Gene Ontology (GO) - Biological Process for FADS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated NAS 10601301
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 IEA,TAS --
genes like me logo Genes that share ontologies with FADS1: view

No data available for SIGNOR curated interactions for FADS1 Gene

Drugs & Compounds for FADS1 Gene

(10) Drugs for FADS1 Gene - From: DrugBank, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Icosapent Approved Nutra Target, agonist Endogenous polyunsaturated fatty acid; stimulates ERK1/2 phosphorylation 0
alpha-linolenic acid Approved Nutra Full agonist, Agonist, Target, ligand 0
Flax Nutra 98
heme Pharma Agonist 0

(4) Additional Compounds for FADS1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FADS1: view

Transcripts for FADS1 Gene

Unigene Clusters for FADS1 Gene

Fatty acid desaturase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FADS1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b · 19c ^
SP1: - - - - - - -
SP2:
SP3: -
SP4: -
SP5: - - -
SP6: - - - - - - - -
SP7: - -
SP8: - - - - -
SP9:
SP10:
SP11: - - - -
SP12: -
SP13:
SP14:
SP15:
SP16: -
SP17:
SP18:

ExUns: 20a · 20b · 20c · 20d ^ 21 ^ 22a · 22b ^ 23 ^ 24 ^ 25a · 25b · 25c ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33
SP1:
SP2:
SP3:
SP4:
SP5: - - - - - - -
SP6:
SP7:
SP8:
SP9: - - - - -
SP10: - - - -
SP11: - - - - - - -
SP12: - - - - - - -
SP13: - - - - - - -
SP14:
SP15: - - -
SP16:
SP17:
SP18:

Relevant External Links for FADS1 Gene

GeneLoc Exon Structure for
FADS1
ECgene alternative splicing isoforms for
FADS1

Expression for FADS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FADS1 Gene

Protein differential expression in normal tissues from HIPED for FADS1 Gene

This gene is overexpressed in Breast (57.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FADS1 Gene



Protein tissue co-expression partners for FADS1 Gene

NURSA nuclear receptor signaling pathways regulating expression of FADS1 Gene:

FADS1

SOURCE GeneReport for Unigene cluster for FADS1 Gene:

Hs.503546

mRNA Expression by UniProt/SwissProt for FADS1 Gene:

O60427-FADS1_HUMAN
Tissue specificity: Widely expressed, with highest levels in liver, brain, adrenal gland and heart. Highly expressed in fetal liver and brain.

Evidence on tissue expression from TISSUES for FADS1 Gene

  • Nervous system(4.9)
  • Eye(4.8)
  • Liver(4.7)
  • Kidney(4.5)
  • Skin(3.4)
  • Blood(2.7)
  • Heart(2.2)
  • Lung(2.2)
  • Muscle(2)
genes like me logo Genes that share expression patterns with FADS1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for FADS1 Gene

Orthologs for FADS1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FADS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FADS1 34 35
  • 100 (n)
dog
(Canis familiaris)
Mammalia FADS1 34 35
  • 92.49 (n)
cow
(Bos Taurus)
Mammalia FADS1 34 35
  • 91.5 (n)
rat
(Rattus norvegicus)
Mammalia Fads1 34
  • 86.04 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FADS1 35
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fads1 34 16 35
  • 85.96 (n)
oppossum
(Monodelphis domestica)
Mammalia FADS1 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves FADS1 34 35
  • 72.11 (n)
-- 35
  • 68 (a)
OneToMany
-- 35
  • 52 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 73 (a)
OneToMany
-- 35
  • 63 (a)
OneToMany
-- 35
  • 62 (a)
OneToMany
-- 35
  • 61 (a)
OneToMany
-- 35
  • 59 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia fads1 34
  • 71.76 (n)
worm
(Caenorhabditis elegans)
Secernentea fat-3 36 35
  • 27 (a)
fat-4 36 35
  • 27 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 24 (a)
OneToMany
Species where no ortholog for FADS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for FADS1 Gene

ENSEMBL:
Gene Tree for FADS1 (if available)
TreeFam:
Gene Tree for FADS1 (if available)

Paralogs for FADS1 Gene

Variants for FADS1 Gene

Sequence variations from dbSNP and Humsavar for FADS1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1000008217 -- 61,804,925(+) ACCAG(C/G)AGGCA intron-variant
rs1000036922 -- 61,804,461(+) AGAAC(C/T)TCTGG intron-variant
rs1000076529 -- 61,813,107(+) AGAAG(C/T)AGGGA intron-variant
rs1000105270 -- 61,803,121(+) CGGAA(A/C)AGGTC intron-variant
rs1000190245 -- 61,818,959(+) TCCAC(C/T)TCCCA intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for FADS1 Gene

Variant ID Type Subtype PubMed ID
nsv343 CNV insertion 18451855
nsv528697 CNV loss 19592680

Variation tolerance for FADS1 Gene

Residual Variation Intolerance Score: 31.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.69; 14.64% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FADS1 Gene

Human Gene Mutation Database (HGMD)
FADS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FADS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FADS1 Gene

Disorders for FADS1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for FADS1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
best vitelliform macular dystrophy
  • vitelliform macular dystrophy
lung mucoepidermoid carcinoma
  • mucoepidermoid carcinoma of lung
neuroblastoma
  • neuroblastoma 1
diabetes mellitus, noninsulin-dependent
  • diabetes, type 2
- elite association - COSMIC cancer census association via MalaCards
Search FADS1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for FADS1

Genetic Association Database (GAD)
FADS1
Human Genome Epidemiology (HuGE) Navigator
FADS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FADS1
genes like me logo Genes that share disorders with FADS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FADS1 Gene

Publications for FADS1 Gene

  1. Role of FADS1 and FADS2 polymorphisms in polyunsaturated fatty acid metabolism. (PMID: 20045144) Glaser C. … Koletzko B. (Metab. Clin. Exp. 2010) 3 22 46 64
  2. Genetic variants of the FADS1 FADS2 gene cluster as related to essential fatty acid metabolism. (PMID: 19809313) Lattka E. … Heinrich J. (Curr. Opin. Lipidol. 2010) 3 22 46 64
  3. Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI Study. (PMID: 19148276) Tanaka T. … Ferrucci L. (PLoS Genet. 2009) 3 22 46 64
  4. SNPs of the FADS gene cluster are associated with polyunsaturated fatty acids in a cohort of patients with cardiovascular disease. (PMID: 18320251) Malerba G. … Illig T. (Lipids 2008) 3 22 46 64
  5. Genetically determined variation in polyunsaturated fatty acid metabolism may result in different dietary requirements. (PMID: 18626191) Koletzko B. … Heinrich J. (Nestle Nutr Workshop Ser Pediatr Program 2008) 3 22 46 64

Products for FADS1 Gene

Sources for FADS1 Gene

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