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 FADS1 Gene

Aliases for FADS1 Gene

  • Fatty Acid Desaturase 1 2 3 4 5
  • Acyl-CoA (8-3)-Desaturase 2 3 4
  • FADSD5 2 3 4
  • D5D 2 3 4
  • Delta(5) Desaturase 3 4
  • Delta-5 Desaturase 2 4
  • FADS6 2 3
  • TU12 2 3
  • Linoleoyl-CoA Desaturase (Delta-6-Desaturase)-Like 1 3
  • Delta(5) Fatty Acid Desaturase 4
  • Delta-5 Fatty Acid Desaturase 3
  • EC 1.14.19.44 4
  • EC 1.14.19 51
  • LLCDL1 3
  • FADS1 5

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 Lipid Metabolism Disorder and Best Vitelliform Macular Dystrophy. Among its related pathways are alpha-linolenic (omega3) and linoleic (omega6) acid metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and heme binding. An important paralog of this gene is FADS2.

UniProtKB/Swiss-Prot Summary for FADS1 Gene

  • Isoform 1: Acts as a front-end fatty acyl-coenzyme A (CoA) desaturase that introduces a cis double bond at carbon 5 located between a preexisting double bond and the carboxyl end of the fatty acyl chain. Involved in biosynthesis of highly unsaturated fatty acids (HUFA) from the essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3) precursors. Specifically, desaturates dihomo-gamma-linoleoate (DGLA) (20:3n-6) and eicosatetraenoate (ETA) (20:4n-3) to generate arachidonate (AA) (20:4n-6) and eicosapentaenoate (EPA) (20:5n-3), respectively (PubMed:10601301, PubMed:10769175). As a rate limiting enzyme for DGLA (20:3n-6) and AA (20:4n-6)-derived eicosanoid biosynthesis, controls the metabolism of inflammatory lipids like prostaglandin E2, critical for efficient acute inflammatory response and maintenance of epithelium homeostasis. Contributes to membrane phospholipid biosynthesis by providing AA (20:4n-6) as a major acyl chain esterified into phospholipids. In particular, regulates phosphatidylinositol-4,5-bisphosphate levels, modulating inflammatory cytokine production in T-cells (By similarity). Also desaturates (11E)-octadecenoate (trans-vaccenoate)(18:1n-9), a metabolite in the biohydrogenation pathway of LA (18:2n-6) (By similarity).
  • [Isoform 2]: Does not exhibit any catalytic activity toward 20:3n-6, but it may enhance FADS2 activity.

Gene Wiki entry for FADS1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FADS1 Gene

Genomics for FADS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FADS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FADS1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FADS1

Top Transcription factor binding sites by QIAGEN in the FADS1 gene promoter:
  • ATF
  • CBF(2)
  • CBF-A
  • CBF-B
  • CBF-C
  • CP1A
  • E47
  • HEN1
  • Ik-2

Genomic Locations for FADS1 Gene

Genomic Locations for FADS1 Gene
chr11:61,799,627-61,829,318
(GRCh38/hg38)
Size:
29,692 bases
Orientation:
Minus strand
chr11:61,567,097-61,596,790
(GRCh37/hg19)
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:
    Acyl-CoA (8-3)-desaturase
    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=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAC11229.1; Type=Erroneous initiation; Note=Extended N-terminus.; 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 Lys106, Lys41, Lys83, and Lys398
  • Modification sites at PhosphoSitePlus

Domains & Families for FADS1 Gene

Gene Families for FADS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for FADS1 Gene

Suggested Antigen Peptide Sequences for FADS1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ77768 (A8K0I7_HUMAN)
  • Delta(5) fatty acid desaturase (FADS1_HUMAN)

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 1: Acts as a front-end fatty acyl-coenzyme A (CoA) desaturase that introduces a cis double bond at carbon 5 located between a preexisting double bond and the carboxyl end of the fatty acyl chain. Involved in biosynthesis of highly unsaturated fatty acids (HUFA) from the essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3) precursors. Specifically, desaturates dihomo-gamma-linoleoate (DGLA) (20:3n-6) and eicosatetraenoate (ETA) (20:4n-3) to generate arachidonate (AA) (20:4n-6) and eicosapentaenoate (EPA) (20:5n-3), respectively (PubMed:10601301, PubMed:10769175). As a rate limiting enzyme for DGLA (20:3n-6) and AA (20:4n-6)-derived eicosanoid biosynthesis, controls the metabolism of inflammatory lipids like prostaglandin E2, critical for efficient acute inflammatory response and maintenance of epithelium homeostasis. Contributes to membrane phospholipid biosynthesis by providing AA (20:4n-6) as a major acyl chain esterified into phospholipids. In particular, regulates phosphatidylinositol-4,5-bisphosphate levels, modulating inflammatory cytokine production in T-cells (By similarity). Also desaturates (11E)-octadecenoate (trans-vaccenoate)(18:1n-9), a metabolite in the biohydrogenation pathway of LA (18:2n-6) (By similarity).
UniProtKB/Swiss-Prot Function:
[Isoform 2]: Does not exhibit any catalytic activity toward 20:3n-6, but it may enhance FADS2 activity.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(8Z,11Z,14Z)-eicosatrienoyl-CoA + 2 [Fe(II)-cytochrome b5] + 2 H(+) + O2 = (5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + 2 [Fe(III)-cytochrome b5] + 2 H2O; Xref=Rhea:RHEA:46424, 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:57368, ChEBI:CHEBI:74264; EC=1.14.19.44; Evidence={ECO:0000269|PubMed:10601301, ECO:0000269|PubMed:10769175};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(8Z,11Z,14Z,17Z)-eicosatetraenoyl-CoA + 2 [Fe(II)-cytochrome b5] + 2 H(+) + O2 = (5Z,8Z,11Z,14Z,17Z)-eicosapentaenoyl-CoA + 2 [Fe(III)-cytochrome b5] + 2 H2O; Xref=Rhea:RHEA:46420, 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:73862, ChEBI:CHEBI:74265; EC=1.14.19.44; Evidence={ECO:0000305|PubMed:10769175};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(11E)-octadecenoyl-CoA + 2 [Fe(II)-cytochrome b5] + 2 H(+) + O2 = (5Z,11E)-octadecadienoyl-CoA + 2 [Fe(III)-cytochrome b5] + 2 H2O; Xref=Rhea:RHEA:46060, 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:85651; Evidence={ECO:0000250|UniProtKB:Q920R3};.
UniProtKB/Swiss-Prot Induction:
Strongly down-regulated upon differentiation in a neuroblastoma cell line (at protein level).

Enzyme Numbers (IUBMB) for FADS1 Gene

Phenotypes From GWAS Catalog 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:0016213 linoleoyl-CoA desaturase activity IDA 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:
  • Fads1 Fads1<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

miRNA for FADS1 Gene

miRTarBase miRNAs that target FADS1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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
mitochondrion 4
endoplasmic reticulum 4
plasma membrane 3
extracellular 2
peroxisome 2
nucleus 2
cytosol 2
cytoskeleton 1
endosome 1
lysosome 1
golgi apparatus 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FADS1 Gene

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 TAS,IEA --
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

(14) 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, Investigational Nutra Target, ligand 0
Vayarin Approved, Investigational Pharma Enzyme, substrate 0
Evening primrose oil Investigational Nutra Enzyme, ligand 24
Omega-6 fatty acids Nutra Enzyme, substrate 0

(3) 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

mRNA/cDNA for FADS1 Gene

1 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
21 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 FADS1

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

Expression for FADS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for FADS1 Gene



Protein tissue co-expression partners for FADS1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(5)
  • Eye(4.8)
  • Liver(4.7)
  • Kidney(4.5)
  • Skin(3.9)
  • Blood(3.1)
  • Heart(2.9)
  • Lung(2.8)
  • Muscle(2.7)
  • Intestine(2.5)
  • Adrenal gland(2.3)
  • Pancreas(2.2)
  • Stomach(2.2)
  • Spleen(2.2)
genes like me logo Genes that share expression patterns with FADS1: view

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 30 31
  • 100 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FADS1 30 31
  • 92.49 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FADS1 30 31
  • 91.5 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fads1 30
  • 86.04 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia FADS1 31
  • 86 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Fads1 30 17 31
  • 85.96 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FADS1 31
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FADS1 30 31
  • 72.11 (n)
OneToMany
-- 31
  • 68 (a)
OneToMany
-- 31
  • 52 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 73 (a)
OneToMany
-- 31
  • 63 (a)
OneToMany
-- 31
  • 62 (a)
OneToMany
-- 31
  • 61 (a)
OneToMany
-- 31
  • 59 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fads1 30
  • 71.76 (n)
Worm
(Caenorhabditis elegans)
Secernentea fat-3 31 32
  • 25 (a)
ManyToMany
fat-4 31 32
  • 23 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 24 (a)
OneToMany
Species where no ortholog for FADS1 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)
  • Wheat (Triticum aestivum)
  • Zebrafish (Danio rerio)

Evolution for FADS1 Gene

ENSEMBL:
Gene Tree for FADS1 (if available)
TreeFam:
Gene Tree for FADS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FADS1: view image

Paralogs for FADS1 Gene

Paralogs for FADS1 Gene

(7) SIMAP similar genes for FADS1 Gene using alignment to 26 proteins:

  • FADS1_HUMAN
  • C9J425_HUMAN
  • C9JJB3_HUMAN
  • F5GWE3_HUMAN
  • F5GYH4_HUMAN
  • F5H0Y2_HUMAN
  • F5H1Q7_HUMAN
  • F5H2H3_HUMAN
  • F5H2R9_HUMAN
  • F5H3P6_HUMAN
  • F5H3U5_HUMAN
  • F5H5X5_HUMAN
  • F5H852_HUMAN
  • F5H8G5_HUMAN
  • H0YB97_HUMAN
  • H7C2V0_HUMAN
  • I3ZNE2_HUMAN
  • I3ZNE3_HUMAN
  • I3ZNH3_HUMAN
  • I3ZNL2_HUMAN
  • I3ZNL9_HUMAN
  • I3ZNN6_HUMAN
  • I3ZNS1_HUMAN
  • I3ZNS3_HUMAN
  • I3ZNS6_HUMAN
  • I3ZNT3_HUMAN

Pseudogenes.org Pseudogenes for FADS1 Gene

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

Variants for FADS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FADS1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
762602 Likely Benign: not provided 61,816,744(-) C/A SYNONYMOUS_VARIANT,INTRON_VARIANT
rs17856235 - p.Pro272Ser

Additional dbSNP identifiers (rs#s) for FADS1 Gene

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)

Additional Variant Information for FADS1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for FADS1 Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards
Search FADS1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FADS1

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 FADS1: view

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

Publications for FADS1 Gene

  1. Genetic variants of the FADS1 FADS2 gene cluster as related to essential fatty acid metabolism. (PMID: 19809313) Lattka E … Heinrich J (Current opinion in lipidology 2010) 3 23 41
  2. Role of FADS1 and FADS2 polymorphisms in polyunsaturated fatty acid metabolism. (PMID: 20045144) Glaser C … Koletzko B (Metabolism: clinical and experimental 2010) 3 23 41
  3. 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
  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 41
  5. Genetically determined variation in polyunsaturated fatty acid metabolism may result in different dietary requirements. (PMID: 18626191) Koletzko B … Heinrich J (Nestle Nutrition workshop series. Paediatric programme 2008) 3 23 41

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