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Aliases for FADS1 Gene

Aliases for FADS1 Gene

  • Fatty Acid Desaturase 1 2 3
  • Delta-5 Desaturase 2 3 4
  • Delta(5) Fatty Acid Desaturase 3 4
  • Delta(5) Desaturase 3 4
  • FADSD5 3 4
  • D5D 3 4
  • Linoleoyl-CoA Desaturase (Delta-6-Desaturase)-Like 1 3
  • Delta-5 Fatty Acid Desaturase 3
  • EC 1.14.19.- 4
  • EC 1.14.19 63
  • 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 vitelliform macular dystrophy and metabolic syndrome x. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include iron ion binding and oxidoreductase activity. An important paralog of this gene is FADS3.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FADS1 Gene

Genomics for FADS1 Gene

Regulatory Elements for FADS1 Gene

Genomic Location for FADS1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for FADS1 Gene at MOPED

Selected DME Specific Peptides for FADS1 Gene

Post-translational modifications for FADS1 Gene

  • Ubiquitination at Lys41, Lys83, Lys106, and Lys398
  • Modification sites at PhosphoSitePlus

Domains for FADS1 Gene

Gene Families for FADS1 Gene

HGNC:
  • FADS :Fatty acid desaturases

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 :
  • O60427
Domain:
  • The histidine box domains may contain the active site and/or be involved in metal ion binding
  • Contains 1 cytochrome b5 heme-binding domain.
Family:
  • Belongs to the fatty acid desaturase 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:0005506 iron ion binding IEA --
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 --
GO:0020037 heme binding IEA --
genes like me logo Genes that share ontologies with FADS1: view
genes like me logo Genes that share phenotypes with FADS1: view

miRNA for FADS1 Gene

No data available for Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for FADS1 Gene COMPARTMENTS Subcellular localization image for FADS1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
mitochondrion 2
nucleus 2
peroxisome 2
cytosol 1
extracellular 1

Gene Ontology (GO) - Cellular Components for FADS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005739 mitochondrion IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane NAS 10601301
GO:0016021 integral component of membrane NAS 10601301
genes like me logo Genes that share ontologies with FADS1: view

Pathways 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 --
GO:0006633 fatty acid biosynthetic process --
GO:0006636 unsaturated fatty acid biosynthetic process IEA --
GO:0007267 cell-cell signaling NAS 10601301
genes like me logo Genes that share ontologies with FADS1: view

Compounds for FADS1 Gene

(2) HMDB Compounds for FADS1 Gene

Compound Synonyms Cas Number PubMed IDs
Eicosapentaenoic acid
  • (5Z,8Z,11Z,14Z,17Z)-Eicosapentaenoate
10417-94-4
Heme
  • (protoporphyrinato)iron
14875-96-8

(2) Drugbank Compounds for FADS1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Alpha-Linolenic Acid
  • (9Z,12Z,15Z)-Octadecatrienoic acid
463-40-1 target ligand
Icosapent
  • Eicosapentaenoic acid
10417-94-4 target agonist

(11) Novoseek inferred chemical compound relationships for FADS1 Gene

Compound -log(P) Hits PubMed IDs
dihomo-gamma-linolenic acid 84.7 4
fatty acid 80 22
linoleic acid 77.5 12
arachidonic acid 73.1 15
gamma-linolenic acid 70 1
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 for FADS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FADS1 Gene

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.
genes like me logo Genes that share expressions with FADS1: view

No data available for mRNA differential expression in normal tissues 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 35
  • 100 (n)
  • 100 (a)
FADS1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FADS1 35
  • 91.5 (n)
  • 93.85 (a)
FADS1 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FADS1 35
  • 92.49 (n)
  • 92.76 (a)
FADS1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fads1 35
  • 85.96 (n)
  • 88.96 (a)
Fads1 16
Fads1 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FADS1 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FADS1 36
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fads1 35
  • 86.04 (n)
  • 89.19 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 68 (a)
OneToMany
-- 36
  • 52 (a)
OneToMany
FADS1 35
  • 72.11 (n)
  • 72.98 (a)
FADS1 36
  • 78 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 59 (a)
OneToMany
-- 36
  • 63 (a)
OneToMany
-- 36
  • 61 (a)
OneToMany
-- 36
  • 62 (a)
OneToMany
-- 36
  • 73 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia fads1 35
  • 71.76 (n)
  • 73.18 (a)
worm
(Caenorhabditis elegans)
Secernentea fat-3 36
  • 25 (a)
ManyToMany
fat-4 36
  • 23 (a)
ManyToMany
fat-3 37
  • 27 (a)
fat-4 37
  • 27 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 24 (a)
OneToMany
Species with no ortholog for FADS1:
  • 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

Paralogs for FADS1 Gene

Pseudogenes.org Pseudogenes for FADS1 Gene

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

Variants for FADS1 Gene

Sequence variations from dbSNP and Humsavar for FADS1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs8448 -- 61,800,465(-) AAAGA(C/T)ACAGG utr-variant-3-prime
rs14536 -- 61,799,662(+) TTCAT(A/G)GGGAT utr-variant-3-prime
rs145902 -- 61,801,297(+) GTTGG(A/G)AAGCA utr-variant-3-prime
rs145903 -- 61,801,398(+) CAGTC(C/T)TAGAA utr-variant-3-prime
rs174542 -- 61,799,481(+) GGGTC(C/G)TGATG downstream-variant-500B

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

Variant ID Type Subtype PubMed ID
nsv528697 CNV Loss 19592680
nsv343 CNV Insertion 18451855
nsv897613 CNV Loss 21882294
nsv897614 CNV Loss 21882294

Relevant External Links for FADS1 Gene

HapMap Linkage Disequilibrium report
FADS1

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

Disorders for FADS1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for FADS1 Gene including...

Search for FADS1 Gene in MalaCards »

(1) University of Copenhagen DISEASES for FADS1 Gene

(2) Novoseek inferred disease relationships for FADS1 Gene

Disease -log(P) Hits PubMed IDs
insulin resistance 40.2 6
obesity 15 2

Relevant External Links for FADS1

Genetic Association Database (GAD)
FADS1
Human Genome Epidemiology (HuGE) Navigator
FADS1
genes like me logo Genes that share disorders with FADS1: view

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

Publications for FADS1 Gene

  1. cDNA cloning and characterization of human Delta5-desaturase involved in the biosynthesis of arachidonic acid. (PMID: 10769175) Leonard A.E. … Mukerji P. (Biochem. J. 2000) 3 4 23
  2. cDNA cloning, genomic structure, and chromosomal localization of three members of the human fatty acid desaturase family. (PMID: 10860662) Marquardt A. … Weber B.H. (Genomics 2000) 3 4 23
  3. Association of fatty acid desaturase genes with attention-deficit/hyperactivity disorder. (PMID: 16893529) Brookes K.J. … Asherson P. (Biol. Psychiatry 2006) 3 23 48
  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 23 48
  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 23 48

Products for FADS1 Gene

Sources for FADS1 Gene

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