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FADS3 Gene

protein-coding   GIFtS: 50

GC11M061397
fatty acid desaturase 3
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: LLCDL3)
Services    

Aliases &
Descriptions
for FADS3

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases
CYB5RP 1, 2, 3
EC 1.14.19.- 3
LLCDL3 2
delta-9-desaturase 2
Descriptions
Cytochrome b5-related protein 3
delta-9 fatty acid desaturase 2
fatty acid desaturase 3 2
linoleoyl-CoA desaturase (delta-9-desaturase)-like 3 2
External Ids
HGNC: 35761
Entrez Gene: 39952
UniProtKB: Q9Y5Q03
Ensembl: ENSG000002219687
Search outside databases for aliases for FADS3 gene

Previous GC identifers: GC11M064126 GC11M063216 GC11M061891 GC11M061416 GC11M061324

Summaries
for FADS3

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

 EntrezGene 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]

Genomic Location
for FADS3

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

 Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the FADS3 gene  

Entrez Gene cytogenetic band: 11q12-q13.1   Ensembl cytogenetic band:  11q12.3   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)

GeneLoc gene densities for chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M061397:     (about GC identifiers)

Start:
 61,397,574 bp from pter
End:
 61,415,582 bp from pter
Size:
 18,009 bases
Orientation:
 minus strand
RefSeq DNA sequence:
NC_000011.8  NT_033903.7  

Proteins
for FADS3

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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

REFSEQ proteins: NP_068373.1  

ENSEMBL proteins: 
ENSP00000278829 


Human Recombinant Proteins 
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Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (FADS3)
Human Recombinant Proteins from Abnova (FADS3)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

5 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005624 membrane fraction NAS10860662
GO:0005783 endoplasmic reticulum IEA--
GO:0005789 endoplasmic reticulum membrane IEA--
GO:0016020 membrane IEA--
GO:0016021 integral to membrane IEA--
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Antibodies for FADS3: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for FADS3
Browse R&D Systems for Antibodies
Antibodies from Abcam (FADS3), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (FADS3)
Novus Biologicals Antibodies for FADS3

Assays for FADS3: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

Protein Domains/
Families
for FADS3

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
4 InterPro domains/families:
 IPR018506 Cyt_B5_heme-BS
 IPR005804 Fatty_acid_desaturase-1
 IPR001199 Cyt_B5
 IPR012171 Fatty_acid/sphinglp_desaturase


   GeneDecks  FADS3 for the domains selected above  
About GeneDecksing

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

Gene Function
for FADS3

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section
Inhib.
RNA:		Invitrogen RNAi Products for gene knock-down (FADS3)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (FADS3)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_021727

              Applied Biosystems Silencer® siRNAs for FADS3

              Sigma-Aldrich siRNA for FADS3  
                     Sigma-Aldrich shRNA for FADS3  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for FADS3
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_021727
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_021727
                                 untagged cDNA clone in CMV expression vector: NM_021727 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_021727

4 Gene Ontology (GO) molecular function terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0003674 molecular_function ND--
GO:0016491 oxidoreductase activity 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--
About this table

Pathways & Interactions
for FADS3

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

1 Invitrogen iPath™ Online BioAtlas - Pathway for FADS3 (Maps provided by GeneGo):
 Fatty acid synthesis II

   GeneDecks  FADS3 for the pathways selected above  
About GeneDecksing

5/6 Sigma-Aldrich "Your Favorite Gene" Pathways for  FADS3  (Your Favorite Gene powered by Ingenuity) (see all 6 ) 
 Inositol Metabolism
 Sphingolipid Metabolism
 Linoleic Acid Metabolism
 Stilbene, Coumarine and Lignin Biosynthesis
 Biosynthesis of Steroids

   GeneDecks  FADS3 for the pathways selected above  
About GeneDecksing

  --

3 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0006636 unsaturated fatty acid biosynthetic process NAS10860662
GO:0006810 transport IEA--
GO:0022900 electron transport chain IEA--
About this table

Drugs & Compounds
for FADS3

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for FADS3

Transcripts
for FADS3

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section
Inhib.
RNA:		Invitrogen RNAi Products for gene knock-down (FADS3)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (FADS3)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_021727

              Sigma-Aldrich siRNA for FADS3  
                     Sigma-Aldrich shRNA for FADS3  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_021727  

REFSEQ mRNAs for FADS3 gene: 

NM_021727.3   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_021727  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_021727
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_021727
                                 untagged cDNA clone in CMV expression vector: NM_021727 

Additional cDNA sequence: 

AB209356.1 AF084560.1 AF134404.1 AK091608.1 AK295473.1 AK310523.1 BC004901.2 CR607573.1 
CR608795.1 CR618275.1 

12 DOTS entries:

DT.97844554  DT.100684064  DT.80101230  DT.100806846  DT.100806848  DT.95286634  DT.100806844  DT.100667587 
DT.100806847  DT.120748851  DT.75194277  DT.95201368 

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

CR608795 CR607573 CR618275 NM_021727 AI394672 BX423436 BC004901 BF732840 
AX747091 BE763432 AF084560 M91491 BX377520 AK091608 AI806997 BE676674 
AF134404 CD630888 CD630890 BX091307 BU170559 BE763399 BX455254 R48625 

highest scoring ESTs for FADS3:

AA279109 AA765927 AA767321 AF084560 AF134404 AI394672 AI682885 AI806997 AW087792 BC004901 

Unigene Cluster for FADS3:

Fatty acid desaturase 3
Hs.21765  [show with all ESTs]
Unigene Representative Sequence: AB209356


GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:
ENST00000278829  

Expression
for FADS3

(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

FADS3 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for FADS3

1 / 2 / 3

6 probe-sets matching FADS3 gene


Affymetrix
probe-set		 Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

43394_s_at2, 3 U95-B 1 1.00 1.00 0.90 1.02 AW005365 0.60 1.00 0.82 1

34224_at2, 3 U95-A 4 0.88 0.88 0.93 0.98 AC004770 0.20 0.33 0.27 1

216080_s_at2, 3 U133-A 1 1.00 1.00 -- -- AC004770 0.20 0.33 0.27 1

204257_at2, 3 U133-A 1 1.00 1.00 -- -- NM_021727 0.60 1.00 0.82 1

216080_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

204257_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
About this table
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: TGTATTCAGC

SOURCE GeneReport for Unigene cluster: Hs.21765

Expression variation in blood from EXPOLDB for FADS3

UniProtKB/Swiss-Prot: FADS3_HUMAN, Q9Y5Q0
Tissue specificity: Has been found in heart, liver, lung, uterus, and brainstem

Orthologs
for FADS3

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section
Orthologs for FADS3 gene from 5/6 species (see all 6 )
Organism Gene Locus Description Human
Similarity		 NCBI accessions
dog
(Canis familiaris)		 FADS31   -- fatty acid desaturase 3 87.17(n)
86.41(a)		 476062  XM_533270.2  XP_533270.2 
chimpanzee
(Pan troglodytes)		 FADS31   -- fatty acid desaturase 3 99.7(n)
99.78(a)		 451246  XM_001150669.1  XP_001150669.1 
cow
(Bos taurus)		 FADS31   -- fatty acid desaturase 3 89.16(n)
88.49(a)		 515925  XM_877513.2  XP_882606.2 
rat
(Rattus norvegicus)		 Fads31   -- fatty acid desaturase 3 87.79(n)
89.89(a)		 286922  NM_173137.1  NP_775160.1 
mouse
(Mus musculus)		 Fads31, 5 195
 fatty acid desaturase 31, 5 87.94(n)1
90.11(a)1		 605271  NM_021890.31  NP_068690.31 
 AA9819595  AB0415605  (see all 19)
About this table        Species with no ortholog for FADS3

ENSEMBL Gene Tree for FADS3

Paralogs
for FADS3

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

Paralogs for FADS3 gene
FADS22  LOC6431812  FADS12  

SNPs/Variants
for FADS3

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/105 NCBI SNPs in FADS3 are shown (see all 105 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 69)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 11 posSequenceRecsAA
Chg		TypeMoreRecsAllele
freq		PopTotal
sample		More
------------
rs5282851,2
A,C,F,H,O61417280(-) ATGCCC/TTCAGT 1 -- ng3110Minor allele frequency- T:0.46NA EU EA 796
--
rs65916641,2
A,C61397097(+) CCACCA/GGGCAC 1 -- ng510--------
rs1744661,2
C,F61415872(+) ACTCCG/ACCCGG 1 -- ng311Minor allele frequency- A:0.44MN 184
rs345114411,2
F61402659(+) CGGAAG/CTTCCA 1 K/N mis11Minor allele frequency- C:0.08NA 66
rs37412561,2
H61415334(+) GGCTGG/TTCGTG 1 D/E mis14Minor allele frequency- T:0.00EU EA WA 410
--
rs65916651,2
C61397787(+) GGGTGA/GGGGTA 1 -- ut310--------
rs354792411,2
F61402842(+) CAGGAC/ATTCTT 1 N/K mis11Minor allele frequency- A:0.04NA 56
rs1744651,2
A,C,F61415376(+) AGCGGT/CGCCCC 1 A/A syn12Minor allele frequency- C:0.16MN NA 262
rs71157391,2
A,C,F,H61398293(+) ATTGGG/TCAGTG 1 -- int18Minor allele frequency- T:0.14EA NA EU WA 586
rs1744641,2
A,C,F,H61414502(-) CTGCAC/TAATAG 1 -- int15Minor allele frequency- T:0.39MN EU EA WA 594
About this table

HapMap Linkage Disequilibrium images for FADS3 (up to first 250kb)

Disorders & Mutations
for FADS3

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

 OMIM: 606150

1 PharmGKB disease relationship for FADS3 gene
Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
Leukemia, Lymphocytic, Acute, L1FA  GN  12086872
About this table

Human Genome Epidemiology Navigator: FADS3 (3 documents)

Medical News
for FADS3

(Possibly Related Articles in Doctor's Guide)
About This Section

   --

Publications
for FADS3

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

10/13 PubMed articles for FADS3 gene (see all 13 ):

Search for FADS3

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

 ANDOR
Aliases
Free Text  
  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

Genome Databases showing FADS3

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section
Entrez Gene: 3995 HGNC: 3576 AceView: FADS3 Ensembl:ENSG00000221968 euGenes: HUgn3995
ECgene: FADS3 H-InvDB: FADS3

Other Databases showing FADS3

(According to HUGE)
About This Section

   --

Specialized Databases showing FADS3

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

   --

Licensable Technologies
for FADS3

(Available from WIS Yeda, Salk, Tufts)
About This Section

  --

Services
for FADS3

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section



Products for FADS3:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



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 Predesigned and custom siRNAs for FADS3 Antibodies for FADS3
 Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
 Lentivirus-delivered shRNAs for FADS3 Browse small molecules at Sigma-Aldrich
 "Your Favorite Gene" Pathwaysfeedback


  
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 Recombinant & Natural Proteins  

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 Recombinant Proteins
(FADS3)
 Antibodies (FADS3)
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 Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
 Antibodies for FADS3

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