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FADS1 fatty acid desaturase 1 [ Homo sapiens (human) ]

Gene ID: 3992, updated on 9-Dec-2018

Summary

Official Symbol
FADS1provided by HGNC
Official Full Name
fatty acid desaturase 1provided by HGNC
Primary source
HGNC:HGNC:3574
See related
Ensembl:ENSG00000149485 MIM:606148
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
D5D; TU12; FADS6; FADSD5; LLCDL1
Summary
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]
Expression
Broad expression in adrenal (RPKM 31.8), brain (RPKM 28.7) and 20 other tissues See more
Orthologs

Genomic context

See FADS1 in Genome Data Viewer
Location:
11q12.2
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (61799625..61817057, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (61567097..61584529, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene transmembrane protein 258 Neighboring gene microRNA 611 Neighboring gene flap structure-specific endonuclease 1 Neighboring gene microRNA 1908 Neighboring gene fatty acid desaturase 2 Neighboring gene fatty acid desaturase 3 Neighboring gene microRNA 6746 Neighboring gene RAB3A interacting protein like 1 Neighboring gene RNA, U6 small nuclear 1243, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
NHGRI GWA Catalog
A genome-wide assessment of variability in human serum metabolism.
NHGRI GWA Catalog
A genome-wide association study of the metabolic syndrome in Indian Asian men.
NHGRI GWA Catalog
A genome-wide perspective of genetic variation in human metabolism.
NHGRI GWA Catalog
An atlas of genetic influences on human blood metabolites.
NHGRI GWA Catalog
Biological, clinical and population relevance of 95 loci for blood lipids.
NHGRI GWA Catalog
Bivariate genome-wide association study suggests fatty acid desaturase genes and cadherin DCHS2 for variation of both compressive strength index and appendicular lean mass in males.
NHGRI GWA Catalog
Common variants at 30 loci contribute to polygenic dyslipidemia.
NHGRI GWA Catalog
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.
NHGRI GWA Catalog
Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes.
NHGRI GWA Catalog
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
NHGRI GWA Catalog
Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.
NHGRI GWA Catalog
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
NHGRI GWA Catalog
Genome-wide association analysis identifies multiple loci related to resting heart rate.
NHGRI GWA Catalog
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
NHGRI GWA Catalog
Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.
NHGRI GWA Catalog
Genome-wide association of lipid-lowering response to statins in combined study populations.
NHGRI GWA Catalog
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
NHGRI GWA Catalog
Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
NHGRI GWA Catalog
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
NHGRI GWA Catalog
Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu
NHGRI GWA Catalog
Genome-wide association study identifies three susceptibility loci for laryngeal squamous cell carcinoma in the Chinese population.
NHGRI GWA Catalog
Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
NHGRI GWA Catalog
Genome-wide association study of serum albumin:globulin ratio in Korean populations.
NHGRI GWA Catalog
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog
Human metabolic individuality in biomedical and pharmaceutical research.
NHGRI GWA Catalog
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
NHGRI GWA Catalog
Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
NHGRI GWA Catalog
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
NHGRI GWA Catalog
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ38956, FLJ90273

Gene Ontology Provided by GOA

Function Evidence Code Pubs
C-5 sterol desaturase activity TAS
Traceable Author Statement
more info
PubMed 
omega-6 fatty acid desaturase activity TAS
Traceable Author Statement
more info
 
oxidoreductase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
alpha-linolenic acid metabolic process TAS
Traceable Author Statement
more info
 
cell-cell signaling NAS
Non-traceable Author Statement
more info
PubMed 
cellular response to starvation IDA
Inferred from Direct Assay
more info
PubMed 
icosanoid biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
linoleic acid metabolic process TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
phospholipid biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
regulation of cell differentiation NAS
Non-traceable Author Statement
more info
PubMed 
regulation of lipid metabolic process TAS
Traceable Author Statement
more info
 
regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
unsaturated fatty acid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
unsaturated fatty acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
intracellular membrane-bounded organelle NAS
Non-traceable Author Statement
more info
PubMed 
membrane HDA PubMed 
membrane NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
acyl-CoA (8-3)-desaturase; fatty acid desaturase 1
Names
delta(5) desaturase
delta-5 fatty acid desaturase
linoleoyl-CoA desaturase (delta-6-desaturase)-like 1
XP_011543324.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_013402.6NP_037534.5  acyl-CoA (8-3)-desaturase

    Status: REVIEWED

    Source sequence(s)
    AI052027, AL512760, DA231492
    Consensus CDS
    CCDS8011.2
    Related
    ENSP00000322229.9, ENST00000350997.11
    Conserved Domains (3) summary
    cd03506
    Location:218469
    Delta6-FADS-like; The Delta6 Fatty Acid Desaturase (Delta6-FADS)-like CD includes the integral-membrane enzymes: delta-4, delta-5, delta-6, delta-8, delta-8-sphingolipid, and delta-11 desaturases found in vertebrates, higher plants, fungi, and bacteria. These desaturases ...
    cl26386
    Location:375
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
    cl27737
    Location:74496
    CYB5; Cytochrome b involved in lipid metabolism [Energy production and conversion, Lipid transport and metabolism]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    61799625..61817057 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545022.2XP_011543324.1  fatty acid desaturase 1 isoform X1

    Related
    ENSP00000441403.1, ENST00000542506.5
    Conserved Domains (2) summary
    cd03506
    Location:147398
    Delta6-FADS-like; The Delta6 Fatty Acid Desaturase (Delta6-FADS)-like CD includes the integral-membrane enzymes: delta-4, delta-5, delta-6, delta-8, delta-8-sphingolipid, and delta-11 desaturases found in vertebrates, higher plants, fungi, and bacteria. These desaturases ...
    pfam00487
    Location:142404
    FA_desaturase; Fatty acid desaturase
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