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

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; AllianceGenome:HGNC:3576
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: mouse all
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Genomic context

Location:: 11q12.2

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (61873526..61892224, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (61862340..61881028, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (61640998..61659017, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Placental expression of Fatty Acid Desaturases 1, 2 and 3 in selected pregnancy pathologies.
Title: Placental expression of Fatty Acid Desaturases 1, 2 and 3 in selected pregnancy pathologies.
Overexpression of fatty acid desaturase 3 predicts poor prognosis in head and neck squamous cell carcinoma.
Title: Overexpression of fatty acid desaturase 3 predicts poor prognosis in head and neck squamous cell carcinoma.
FADS3 is a Delta14Z sphingoid base desaturase that contributes to gender differences in the human plasma sphingolipidome.
Title: FADS3 is a Δ14Z sphingoid base desaturase that contributes to gender differences in the human plasma sphingolipidome.
Biosynthesis of the anti-lipid-microdomain sphingoid base 4,14-sphingadiene by the ceramide desaturase FADS3.
Title: Biosynthesis of the anti-lipid-microdomain sphingoid base 4,14-sphingadiene by the ceramide desaturase FADS3.
Data demonstrated that the rs1000778-G allele in the FADS3 gene is related to increased risk for coronary artery disease in the northern Chinese Han population.
Title: Association of the FADS gene cluster with coronary artery disease and plasma lipid concentrations in the northern Chinese Han population.
pairwise comparison showed that individuals major homozygous for the SNP rs1000778 in the FADS3 gene had lower concentrations of a-linolenic acid and linoleic acid in their breast milk
Title: Association of polyunsaturated fatty acids in breast milk with fatty acid desaturase gene polymorphisms among Chinese lactating mothers.
Minor allele homozygotes and heterozygotes of rs174455 in FADS3 gene had lower levels of 22:5 omega-3, 20:4 omega-6, and Delta5desaturase activity in patients with type 2 diabetes mellitus.
Title: Genetic variants in desaturase gene, erythrocyte fatty acids, and risk for type 2 diabetes in Chinese Hans.
Data suggest that FADS3 alternative transcripts/splicing are up-regulated in liver by dietary docosahexaenoic/arachidonic acids by peroxisome proliferator-activated receptor gamma (PPARg)-dependent mechanism unrelated to other desaturases (FADS1/2).
Title: Dietary long-chain polyunsaturated fatty acids upregulate expression of FADS3 transcripts.
genetic association study in maternal/child dyads in England: Data suggest that SNPs in FADS3 (and in FADS1/FADS2) influence fetal fatty acid metabolism; both maternal and child FADS genotypes/haplotypes influence cord plasma long-chain fatty acids.
Title: Umbilical cord PUFA are determined by maternal and child fatty acid desaturase (FADS) genetic variants in the Avon Longitudinal Study of Parents and Children (ALSPAC).
it is highly likely that a gene product of FADS3 has desaturating activity.
Title: Genetic variation in polyunsaturated fatty acid metabolism and its potential relevance for human development and health.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Biological, clinical and population relevance of 95 loci for blood lipids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants at 30 loci contribute to polygenic dyslipidemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic determinants of circulating sphingolipid concentrations in European populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetics of rheumatoid arthritis contributes to biology and drug discovery. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association of lipid-lowering response to statins in combined study populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies multiple loci influencing human serum metabolite levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. EBI GWAS Catalog EBI GWAS CatalogPubMed
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 EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies three susceptibility loci for laryngeal squamous cell carcinoma in the Chinese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH36905 (e-PCR)
- UniSTS:87932

D7S511 (e-PCR)
- UniSTS:10880

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info
enables 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	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in lipid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in sphingolipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in unsaturated fatty acid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in unsaturated fatty acid biosynthetic process	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	NAS Non-traceable Author Statement more info	PubMed

General protein information

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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

EC 1.14.19.-

XP_011543325.1

EC 1.14.19.-

XP_016873212.1

EC 1.14.19.-

XP_016873213.1

EC 1.14.19.-

XP_047282892.1

EC 1.14.19.-

XP_054224725.1

EC 1.14.19.-

XP_054224726.1

EC 1.14.19.-

XP_054224727.1

EC 1.14.19.-

XP_054224728.1

EC 1.14.19.-

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)

NM_021727.5 → NP_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

O60426, Q9Y5Q0

UniProtKB/TrEMBL

E9PS00

Related

ENSP00000278829.2, ENST00000278829.7

Conserved Domains (2) summary

cd03506
Location:165 → 413

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:22 → 433

CYB5; Cytochrome b involved in lipid metabolism [Energy production and conversion, Lipid transport and metabolism]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

61873526..61892224 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017017724.1 → XP_016873213.1 fatty acid desaturase 3 isoform X2
XM_017017723.1 → XP_016873212.1 fatty acid desaturase 3 isoform X1
XM_011545023.2 → XP_011543325.1 fatty acid desaturase 3 isoform X3

See identical proteins and their annotated locations for XP_011543325.1

UniProtKB/TrEMBL

E9PS00

Conserved Domains (2) summary

PLN03199
Location:10 → 449

PLN03199; delta6-acyl-lipid desaturase-like protein; Provisional

cd03506
Location:165 → 422

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 ...
XM_047426936.1 → XP_047282892.1 fatty acid desaturase 3 isoform X4

UniProtKB/TrEMBL

E9PKP8

Related

ENSP00000431533.1, ENST00000527697.5

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

61862340..61881028 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054368751.1 → XP_054224726.1 fatty acid desaturase 3 isoform X2
XM_054368750.1 → XP_054224725.1 fatty acid desaturase 3 isoform X1
XM_054368752.1 → XP_054224727.1 fatty acid desaturase 3 isoform X3
XM_054368753.1 → XP_054224728.1 fatty acid desaturase 3 isoform X4

UniProtKB/TrEMBL

E9PKP8