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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FADS3 Gene

protein-coding GIFtS: 50
GCID: GC11M061640

fatty acid desaturase 3

(Previous symbol: LLCDL3)

Explore 3 diseases affiliated with
FADS3 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Fatty Acid Desaturase 3¹ ²		Delta-9-Desaturase¹
CYB5RP¹ ² ³		Linoleoyl-CoA Desaturase (Delta-9-Desaturase)-Like 3²
LLCDL3¹ ²		EC 1.14.19.-³
Cytochrome B5-Related Protein² ³		EC 1.14.19⁸
Delta-9 Fatty Acid Desaturase²

External Ids:	HGNC: 3576¹	Entrez Gene: 3995²	Ensembl: ENSG00000221968⁷	OMIM: 606150⁵	UniProtKB: Q9Y5Q0³

Export aliases for FADS3 gene to outside databases

Previous GC identifers: GC11M064126 GC11M063216 GC11M061891 GC11M061416 GC11M061324 GC11M061397 GC11M057969

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for FADS3:

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)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000011.9 NC_018922.1 NT_167190.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the FADS3 gene promoter:
Max1 AML1a Olf-1 MyoD STAT5A AP-4 E47 c-Ets-1 AREB6 HSF2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FADS3 promoter sequence

Search SABiosciences Chromatin IP Primers for FADS3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FADS3

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q12-q13.1 Ensembl cytogenetic band: 11q12.2 HGNC cytogenetic band: 11q12-q13.1

FADS3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FADS3 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M061640: view genomic region (about GC identifiers)

Start:	61,640,991 bp from pter	End:	61,659,523 bp from pter
Size:	18,533 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: FADS3_HUMAN, Q9Y5Q0 (See protein sequence)

Recommended Name: Fatty acid desaturase 3

Size: 445 amino acids; 51145 Da

Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity)

Sequence caution: Sequence=AAC23396.1; Type=Erroneous gene model prediction;

Secondary accessions: O60426

Explore the universe of human proteins at neXtProt for FADS3: NX_Q9Y5Q0

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9Y5Q0

4/9 DME Specific Peptides for FADS3 (Q9Y5Q0) (see all 9)

TQMNHIP

LQHDLGH

EDATDAF

DKWLVIER

FADS3 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_068373.1

ENSEMBL proteins:

ENSP00000431533 ENSP00000278829 ENSP00000435597 ENSP00000432012 ENSP00000432206

ENSP00000436890 ENSP00000434551 ENSP00000439308

Human Recombinant Protein Products for FADS3:

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	Uscn Proteins for FADS3

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	--	--
GO:0005789	endoplasmic reticulum membrane	IEA	--
GO:0016020	membrane	NAS	10860662
GO:0016021	integral to membrane	IEA	--

FADS3 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for FADS3

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

FADS3 for domains About GeneDecksing

3 InterPro domains/families:

IPR001199 Cyt_B5-like_heme/steroid-bd

IPR005804 Fatty_acid_desaturase-1

IPR012171 Fatty_acid/sphinglp_desaturase

Graphical View of Domain Structure for InterPro Entry Q9Y5Q0

ProtoNet protein and cluster: Q9Y5Q0

1 Blocks protein family: IPB001199 Cytochrome b5

UniProtKB/Swiss-Prot: FADS3_HUMAN, Q9Y5Q0

Domain: The histidine box domains may contain the active site and/or be involved in metal ion binding

Similarity: Belongs to the fatty acid desaturase family

Similarity: Contains 1 cytochrome b5 heme-binding domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Enzyme Numbers (IUBMB): EC 1.14.19.-¹ EC 1.14.19²

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003674	molecular_function	ND	--
GO:0005506	iron ion binding	IEA	--
GO:0016717	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	IEA	--
GO:0020037	heme binding	IEA	--

FADS3 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for FADS3:

Increased gamma-H2AX phosphory

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for FADS3

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		hsa-miR-3163 hsa-miR-548c-3p
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FADS3

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for FADS3

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for FADS3 (ENSP00000278829⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UBC	ENSP00000344818⁴	STRING: ENSP00000344818

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006629	lipid metabolic process	--	--
GO:0006633	fatty acid biosynthetic process	--	--
GO:0006636	unsaturated fatty acid biosynthetic process	NAS	10860662
GO:0022900	electron transport chain	IEA	--

FADS3 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for FADS3

1 HMDB Compound for FADS3 About this table

Compound	Synonyms	CAS #	PubMed Ids
Heme	(protoporphyrinato)iron (see all 19)	14875-96-8	--

Search CenterWatch for drugs/clinical trials and news about FADS3

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for FADS3 gene:

NM_021727.3

Unigene Cluster for FADS3:

Fatty acid desaturase 3

Hs.21765 [show with all ESTs]

Unigene Representative Sequence: AB209356

14 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000527697 ENST00000533676 ENST00000278829(uc001nsm.3) ENST00000529404

ENST00000527379 ENST00000525094 ENST00000525588 ENST00000531956 ENST00000534223

ENST00000526294 ENST00000414624 ENST00000534426 ENST00000529525 ENST00000540820

miRNA Products:		OriGene 3'-UTR Clone: FADS3 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FADS3
		2 QIAGEN miScript miRNA Assays for microRNAs that regulate FADS3:
		hsa-miR-3163 hsa-miR-548c-3p
		SwitchGear 3'UTR luciferase reporter plasmid: FADS3 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Additional cDNA sequence:

AB209356.1 AF084560.1 AF134404.1 AK091608.1 AK295473.1 AK310523.1 BC004901.2

12 DOTS entries:

DT.97844554 DT.100684064 DT.80101230 DT.100806848 DT.100806846 DT.95286634 DT.100806844 DT.100667587

DT.100806847 DT.120748851 DT.75194277 DT.95201368

24/40 AceView cDNA sequences (see all 40):

CR618275 CR608795 NM_021727 CR607573 AF084560 BE763432 BE676674 AX747091

BC004901 AF134404 CD630888 AI806997 AI394672 BF732840 AK091608 BX377520

CD630890 BX423436 M91491 BU170559 AI682885 R48625 BX091307 AA767321

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

FADS3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGTATTCAGC

About this image

FADS3 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Adipose

Visceral White Adipose

Adipose

Brain

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See FADS3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FADS3

SOURCE GeneReport for Unigene cluster: Hs.21765

UniProtKB/Swiss-Prot: FADS3_HUMAN, Q9Y5Q0

Tissue specificity: Has been found in heart, liver, lung, uterus, and brainstem

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for FADS3 gene from 5/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Fads3^{1 , 5}	fatty acid desaturase 3^{1, 5}	87.94(n)¹ 90.11(a)¹		19 (6.33 cM)⁵ 60527¹ NM_021890.3¹ NP_068690.3¹ 10041548⁵
zebrafish (Danio rerio)	Actinopterygii	fads2⁶	fatty acid desaturase 2	55(a)	1 → many	25(4189905-4205135)
worm (Caenorhabditis elegans)	Secernentea	fat-4⁶ fat-3⁶	FATty acid desaturase family member (fat-3)	23(a) 23(a)	many ↔ many many ↔ many	IV(9799407-9802211) IV(9803006-9806101)
thale cress (Arabidopsis thaliana)	eudicotyledons	AT2G46210⁶ AT3G61580⁶	Fatty acid/sphingolipid desaturase	25(a) 24(a)	many ↔ many many ↔ many	2(18977344-18979001) 3(22786047-22787972)
rice (Oryza sativa)	Liliopsida	--	desaturase/cytochrome b5 protein, putative, expres...	25(a)	1 → many	9(10337557-10339696)

ENSEMBL Gene Tree for FADS3 (if available)
TreeFam Gene Tree for FADS3 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for FADS3 gene

FADS2² FADS1²

4 SIMAP similar genes for FADS3 using alignment to 8 protein entries: FADS3_HUMAN (see all proteins):

FADS2 FADS1 FADS2P1 DKFZp686M0619

FADS3 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs145403770^1,2		--	61640498(+)	`GAGATC/TGACGT`	1	--	ds500¹		0	--	--	--	--
rs6591664^1,2	C,F,A,H	--	61640521(+)	`CCACCA/GGGCAC`	1	--	ds500¹		14		NA WA CSA EA	377
rs181687928^1,2		--	61640542(+)	`ACCACA/CACTGG`	1	--	ds500¹		0	--	--	--	--
rs149201676^1,2		--	61640659(+)	`ACAACC/TGTCTT`	1	--	ds500¹		0	--	--	--	--
rs145092501^1,2		--	61640754(+)	`GAAGCA/GTCAAG`	1	--	ds500¹		0	--	--	--	--
rs185716597^1,2		--	61640919(+)	`ATGGCC/TGAGGG`	1	--	ds500¹		0	--	--	--	--
rs75306442^1,2	C	--	61641396(+)	`CCTAAC/TACCCC`	1	--	int¹		4		NA CSA WA	243
rs137943385^1,2		--	61641407(+)	`TGTATA/CCCCCA`	1	--	int¹		0	--	--	--	--
rs174450^1,2	C,F,A,H	--	61641542(-)	`CGTCAC/ACCCGG`	1	--	int¹		23		NS EA NA WA CSA	2344
rs140860235^1,2		--	61641696(+)	`CCACCC/TGATCT`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for FADS3 (61640991 - 61659523 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for FADS3: --

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FADS3

DNA2.0 Custom Variant and Variant Library Synthesis for FADS3

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

FADS3 for disorders           About GeneDecksing

OMIM gene information: 606150    OMIM disorders: --

3 diseases for FADS3:    About MalaCards

familial combined hyperlipidemia coronary heart disease hyperlipidemia

Human Genome Epidemiology (HuGE) Navigator: FADS3 (14 documents)

Export disorders for FADS3 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for FADS3 gene, integrated from 9 sources (see all 29):
(articles sorted by number of sources associating them with FADS3)

Utopia: connect your pdf to the dynamic
world of online information

cDNA cloning, genomic structure, and chromosomal localization of three members of the human fatty acid desaturase family. (PubMed id 10860662)^{1, 2, 9} Marquardt A.... Weber B.H. (2000)
The fatty acid desaturase 3 gene encodes for differen t FADS3 protein isoforms in mammalian tissues. (PubMed id 19752397)^{1, 9} PAcdrono F....Legrand P. (2010)
A systems genetics approach implicates USF1, FADS3, a nd other causal candidate genes for familial combined hyperlipidemia. (PubMed id 19750004)^{1, 9} Plaisier C.L....Pajukanta P. (2009)
Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI Study. (PubMed id 19148276)^{1, 9} Tanaka T....Ferrucci L. (2009)
Novel Loci for metabolic networks and multi-tissue exp ression studies reveal genes for atherosclerosis. (PubMed id 22916037)¹ Inouye M....de Bakker P.I. (2012)
Genome-wide association study identifies novel loci as sociated with circulating phospho- and sphingolipid concentrations. (PubMed id 22359512)¹ Demirkan A....Schmitz G. (2012)
Genome-wide association study identifies multiple loci influencing human serum metabolite levels. (PubMed id 22286219)¹ Kettunen J....Ripatti S. (2012)
Genetic loci associated with plasma phospholipid n-3 f atty acids: a meta-analysis of genome-wide association studies from the CHARGE C onsortium. (PubMed id 21829377)¹ Lemaitre R.N....Steffen L.M. (2011)
Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
Genetic variation in polyunsaturated fatty acid metab olism and its potential relevance for human development and health. (PubMed id 21366865)¹ Glaser C....Koletzko B. (2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 3995	HGNC: 3576	AceView: FADS3	Ensembl:ENSG00000221968	euGenes: HUgn3995
ECgene: FADS3	H-InvDB: FADS3

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for FADS3	Pharmacogenomics, SNPs, Pathways

Intellectual Property for FADS3 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for FADS3 gene:
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fatty acid desaturase 3

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fatty acid desaturase 3

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