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FADS3 fatty acid desaturase 3 [ Homo sapiens (human) ]

Gene ID: 3995, updated on 11-Sep-2019

Summary

Official Symbol
FADS3provided by HGNC
Official Full Name
fatty acid desaturase 3provided by HGNC
Primary source
HGNC:HGNC:3576
See related
Ensembl:ENSG00000221968 MIM:606150
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
CYB5RP; LLCDL3
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 fat (RPKM 37.4), placenta (RPKM 28.8) and 22 other tissues See more
Orthologs

Genomic context

See FADS3 in Genome Data Viewer
Location:
11q12.2
Exon count:
12
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (61873526..61892224, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (61640998..61659006, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene fatty acid desaturase 1 Neighboring gene microRNA 1908 Neighboring gene fatty acid desaturase 2 Neighboring gene Sharpr-MPRA regulatory region 6587 Neighboring gene microRNA 6746 Neighboring gene RAB3A interacting protein like 1 Neighboring gene RNA, U6 small nuclear 1243, pseudogene Neighboring gene uncharacterized LOC107984334 Neighboring gene bestrophin 1

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

NHGRI GWAS Catalog

Description
Biological, clinical and population relevance of 95 loci for blood lipids.
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 determinants of circulating sphingolipid concentrations in European populations.
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
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
NHGRI GWA Catalog
Genome-wide association of lipid-lowering response to statins in combined study populations.
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
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
NHGRI GWA Catalog
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of fatty acid desaturase 3 (FADS3) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
unsaturated fatty acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
unsaturated fatty acid biosynthetic process NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
fatty acid desaturase 3
Names
cytochrome b5-related protein
delta(13) desaturase
delta(13) fatty acid desaturase
delta-9 fatty acid desaturase
delta-9-desaturase
linoleoyl-CoA desaturase (delta-9-desaturase)-like 3
NP_068373.1
XP_011543325.1
XP_016873212.1
XP_016873213.1

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_021727.5NP_068373.1  fatty acid desaturase 3

    See identical proteins and their annotated locations for NP_068373.1

    Status: REVIEWED

    Source sequence(s)
    AP006260
    Consensus CDS
    CCDS8013.1
    UniProtKB/Swiss-Prot
    Q9Y5Q0
    UniProtKB/TrEMBL
    A0A024R564
    Related
    ENSP00000278829.2, ENST00000278829.7
    Conserved Domains (2) summary
    cd03506
    Location:165413
    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 ...
    cl27737
    Location:22433
    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.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    61873526..61892224 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017017724.1XP_016873213.1  fatty acid desaturase 3 isoform X2

  2. XM_017017723.1XP_016873212.1  fatty acid desaturase 3 isoform X1

  3. XM_011545023.2XP_011543325.1  fatty acid desaturase 3 isoform X3

    See identical proteins and their annotated locations for XP_011543325.1

    Conserved Domains (3) summary
    PLN03199
    Location:10449
    PLN03199; delta6-acyl-lipid desaturase-like protein; Provisional
    cd03506
    Location:165422
    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 ...
    pfam00173
    Location:2296
    Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain

RNA

  1. XR_001747866.1 RNA Sequence

  2. XR_001747868.1 RNA Sequence

  3. XR_001747867.1 RNA Sequence

  4. XR_001747869.1 RNA Sequence

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