Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3992
Gene name Gene Name - the full gene name approved by the HGNC.
Fatty acid desaturase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FADS1
Synonyms (NCBI Gene) Gene synonyms aliases
D5D, FADS6, FADSD5, LLCDL1, TU12
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q12.2
Summary Summary of gene provided in NCBI Entrez 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 mem
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT001549 hsa-miR-155-5p pSILAC 18668040
MIRT018342 hsa-miR-335-5p Microarray 18185580
MIRT001549 hsa-miR-155-5p Proteomics;Other 18668040
MIRT023902 hsa-miR-1-3p Proteomics 18668040
MIRT024788 hsa-miR-215-5p Microarray 19074876
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000248 Function C-5 sterol desaturase activity TAS 10601301
GO:0005739 Component Mitochondrion IEA
GO:0005739 Component Mitochondrion ISS
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606148 3574 ENSG00000149485
Protein
UniProt ID O60427
Protein name Acyl-CoA (8-3)-desaturase (EC 1.14.19.44) (Delta(5) fatty acid desaturase) (D5D) (Delta(5) desaturase) (Delta-5 desaturase) (Fatty acid desaturase 1)
Protein 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 unsa
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00173 Cyt-b5 21 94 Cytochrome b5-like Heme/Steroid binding domain Domain
PF00487 FA_desaturase 155 418 Fatty acid desaturase Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed, with highest levels in liver, brain, adrenal gland and heart. Highly expressed in fetal liver and brain. {ECO:0000269|PubMed:10601301, ECO:0000269|PubMed:10769175, ECO:0000269|PubMed:10860662}.
Sequence
Sequence length 444
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Biosynthesis of unsaturated fatty acids
Metabolic pathways
Fatty acid metabolism
  PPARA activates gene expression
Linoleic acid (LA) metabolism
alpha-linolenic acid (ALA) metabolism
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Aortic Valve Sclerosis Aortic valve stenosis N/A N/A GWAS
Asthma Asthma, Asthma in any disease N/A N/A GWAS
Bipolar Disorder Bipolar disorder, Bipolar I disorder N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acute Coronary Syndrome Associate 23555103
Adenocarcinoma Associate 35560527
Adenoma Associate 30175151
Adenoma Islet Cell Associate 24240437
Aortic Aneurysm Abdominal Associate 31817859
Aortic Valve Stenosis Associate 31817859, 32186652
Arthritis Rheumatoid Associate 29193869
Asthma Associate 37221513
Autism Spectrum Disorder Associate 30180836
Bipolar Disorder Associate 28115744, 30531795