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

Gene ID: 3992, updated on 8-Jul-2021

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
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Genomic context

See FADS1 in Genome Data Viewer
Location:
11q12.2
Exon count:
13
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (61799627..61817003, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (61567099..61584475, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 5973 Neighboring gene flap structure-specific endonuclease 1 Neighboring gene microRNA 1908 Neighboring gene fatty acid desaturase 2 Neighboring gene Sharpr-MPRA regulatory region 6587 Neighboring gene fatty acid desaturase 3 Neighboring gene microRNA 6746

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
GeneReviews: Not available
A genome-wide assessment of variability in human serum metabolism.
GeneReviews: Not available
A genome-wide association study of the metabolic syndrome in Indian Asian men.
GeneReviews: Not available
A genome-wide perspective of genetic variation in human metabolism.
GeneReviews: Not available
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available
Biological, clinical and population relevance of 95 loci for blood lipids.
GeneReviews: Not available
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.
GeneReviews: Not available
Common variants at 30 loci contribute to polygenic dyslipidemia.
GeneReviews: Not available
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available
Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.
GeneReviews: Not available
Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes.
GeneReviews: Not available
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
GeneReviews: Not available
Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.
GeneReviews: Not available
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
GeneReviews: Not available
Genome-wide association analysis identifies multiple loci related to resting heart rate.
GeneReviews: Not available
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
GeneReviews: Not available
Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.
GeneReviews: Not available
Genome-wide association of lipid-lowering response to statins in combined study populations.
GeneReviews: Not available
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
GeneReviews: Not available
Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
GeneReviews: Not available
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
GeneReviews: Not available
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
GeneReviews: Not available
Genome-wide association study identifies three susceptibility loci for laryngeal squamous cell carcinoma in the Chinese population.
GeneReviews: Not available
Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
GeneReviews: Not available
Genome-wide association study of serum albumin:globulin ratio in Korean populations.
GeneReviews: Not available
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
GeneReviews: Not available
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available
Human metabolic individuality in biomedical and pharmaceutical research.
GeneReviews: Not available
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
GeneReviews: Not available
Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
GeneReviews: Not available
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
GeneReviews: Not available
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
GeneReviews: Not available
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ38956, FLJ90273

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
located_in integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
located_in intracellular membrane-bounded organelle NAS
Non-traceable Author Statement
more info
PubMed 
located_in membrane HDA PubMed 
located_in membrane NAS
Non-traceable Author Statement
more info
PubMed 
located_in mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
acyl-CoA (8-3)-desaturase
Names
delta(5) desaturase
delta-5 fatty acid desaturase
linoleoyl-CoA desaturase (delta-6-desaturase)-like 1
NP_037534.5
XP_011543324.1

NCBI Reference Sequences (RefSeq)

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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_013402.7NP_037534.5  acyl-CoA (8-3)-desaturase

    Status: REVIEWED

    Source sequence(s)
    AI052027, AL512760, DA231492
    Consensus CDS
    CCDS8011.2
    Related
    ENSP00000322229.9, ENST00000350997.12
    Conserved Domains (3) summary
    PLN03199
    Location:74496
    PLN03199; delta6-acyl-lipid desaturase-like protein; Provisional
    PRK07003
    Location:375
    PRK07003; DNA polymerase III subunit gamma/tau
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    61799627..61817003 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545022.2XP_011543324.1  acyl-CoA (8-3)-desaturase isoform X1

    Related
    ENSP00000441403.1, ENST00000542506.5
    Conserved Domains (1) 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 ...
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