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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FADS1 Gene

protein-coding GIFtS: 63
GCID: GC11M061567

fatty acid desaturase 1

(Previous symbol: LLCDL1)

Explore 22 diseases affiliated with
FADS1 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 1¹ ²		Delta(5) Fatty Acid Desaturase² ³
D5D¹ ² ³		Delta-5 Desaturase² ³
FADSD5¹ ² ³		Delta-5 Fatty Acid Desaturase²
FADS6¹ ²		Linoleoyl-CoA Desaturase (Delta-6-Desaturase)-Like 1²
LLCDL1¹ ²		EC 1.14.19.-³
TU12¹ ²		EC 1.14.19⁸
Delta(5) Desaturase² ³

External Ids:	HGNC: 3574¹	Entrez Gene: 3992²	Ensembl: ENSG00000149485⁷	OMIM: 606148⁵	UniProtKB: O60427³

Export aliases for FADS1 gene to outside databases

Previous GC identifers: GC11M064080 GC11M063143 GC11M061817 GC11M061342 GC11M061323 GC11M057895

(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 FADS1:

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)

UniProtKB/Swiss-Prot: FADS1_HUMAN, O60427

Function: Component of a lipid metabolic pathway that catalyzes biosynthesis of highly unsaturated fatty acids (HUFA)

from precursor essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid

(ALA) (18:3n-3). Catalyzes the desaturation of dihomo-gamma-linoleic acid (DHGLA) (20:3n-6) and eicosatetraenoic acid

(20:4n-3) to generate arachidonic acid (AA) (20:4n-6) and eicosapentaenoic acid (EPA)(20:5n-3) respectively

Gene Wiki entry for FADS1

(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 FADS1 gene promoter:
CBF-C E47 HEN1 CBF-A CBF-B Ik-2 CP1A ATF CBF(2)
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FADS1 promoter sequence

Search SABiosciences Chromatin IP Primers for FADS1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FADS1

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

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

FADS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FADS1 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M061567: view genomic region (about GC identifiers)

Start:	61,567,097 bp from pter	End:	61,596,790 bp from pter
Size:	29,694 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: FADS1_HUMAN, O60427 (See protein sequence)

Recommended Name: Fatty acid desaturase 1

Size: 501 amino acids; 57886 Da

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

Developmental stage: Highly expressed in fetal liver and fetal brain

Caution: It is uncertain whether Met-1 or Met-58 is the initiator

Sequence caution: Sequence=AAC23397.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=AAG23120.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH07846.1;

Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB55103.1; Type=Erroneous initiation;

Note=Translation N-terminally extended; Sequence=BAB55173.1; Type=Erroneous initiation; Note=Translation N-terminally

extended; Sequence=BAD96626.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAG36877.1;

Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAC21679.1; Type=Erroneous initiation;

Note=Translation N-terminally extended;

Secondary accessions: B2RAI0 Q53GM5 Q8N3A6 Q8NCC7 Q8NCG0 Q96I39 Q96SV3 Q96T10 Q9NRP8 Q9NYX1

Explore the universe of human proteins at neXtProt for FADS1: NX_O60427

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O60427

4/6 DME Specific Peptides for FADS1 (O60427) (see all 6)

TQMNHIP

LWLDAYL

QAGWLQHD

FVIGHLKG

FADS1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_037534.3

ENSEMBL proteins:

ENSP00000322229 ENSP00000439097 ENSP00000405087 ENSP00000445253 ENSP00000441403

ENSP00000443587 ENSP00000407895 ENSP00000441871 ENSP00000442170 ENSP00000440652

ENSP00000416043 ENSP00000429016 ENSP00000443037 ENSP00000446270 ENSP00000439790

ENSP00000438997 ENSP00000391229 ENSP00000445442

Reactome Protein details: O60427
Human Recombinant Protein Products:

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	Novus Biologicals FADS1 Proteins Novus Biologicals FADS1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for FADS1

Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	--	--
GO:0005634	nucleus	IEA	--
GO:0005789	endoplasmic reticulum membrane	TAS	--
GO:0005792	microsome	--	--
GO:0016020	membrane	NAS	10601301

FADS1 for ontologies About GeneDecksing

FADS1 Antibody Products:

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	Abcam antibodies for FADS1
	Uscn Antibodies for FADS1
	ThermoFisher Antibodies for FADS1

Assay Products for FADS1:

	Browse Kits and Assays available from EMD Millipore
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	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for FADS1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for FADS1

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

FADS1 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 O60427

ProtoNet protein and cluster: O60427

1 Blocks protein family: IPB001199 Cytochrome b5

UniProtKB/Swiss-Prot: FADS1_HUMAN, O60427

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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: FADS1_HUMAN, O60427

Function: Component of a lipid metabolic pathway that catalyzes biosynthesis of highly unsaturated fatty acids (HUFA)

from precursor essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid

(ALA) (18:3n-3). Catalyzes the desaturation of dihomo-gamma-linoleic acid (DHGLA) (20:3n-6) and eicosatetraenoic acid

(20:4n-3) to generate arachidonic acid (AA) (20:4n-6) and eicosapentaenoic acid (EPA)(20:5n-3) respectively

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

miRNA Products:		miRTarBase miRNAs that target FADS1: hsa-mir-155 (MIRT001549)

		OriGene 3'-UTR Clone: FADS1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FADS1
		8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate FADS1 (see all 17):
		hsa-miR-140-5p hsa-miR-495 hsa-miR-128 hsa-miR-877* hsa-miR-7-1* hsa-miR-193a-5p hsa-miR-577 hsa-miR-324-3p

		SwitchGear 3'UTR luciferase reporter plasmid: FADS1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FADS1 (see all 7) OriGene shRNA RFP: FADS1 OriGene siRNA: FADS1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FADS1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for FADS1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector: FADS1 (NM_013402)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for FADS1
		Search LifeMap BioReagents cell lines for FADS1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FADS1

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000248	C-5 sterol desaturase activity	TAS	10601301
GO:0005506	iron ion binding	IEA	--
GO:0016491	oxidoreductase activity	IDA	10601301
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	--	--
GO:0020037	heme binding	IEA	--

FADS1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for FADS1:

Cell cycle / mitosis defect

Animal Models:
6 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Fads1):

cellular	digestive/alimentary	hematopoietic system	homeostasis/metabolism	immune system
mortality/aging

FADS1 for phenotypes About GeneDecksing

(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

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)

	Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)	1.00			Fatty acid, triacylglycerol, and ketone body metabolism	0.52
	PPARA Activates Gene Expression	0.74

alpha-linolenic (omega3) and linoleic (omega6) acid metabolism

	alpha-linolenic (omega3) and linoleic (omega6) acid metabolism	1.00			Linoleic acid (LA) metabolism	0.55
	alpha-linolenic acid (ALA) metabolism	1.00

Biosynthesis of unsaturated fatty acids

Biosynthesis of unsaturated fatty acids

1.00

oleate biosynthesis II (animals)

0.32

Metabolism

Metabolism

1.00

Metabolism of lipids and lipoproteins

0.34

Expression of FADS1

Expression of FADS1

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 BioSystems Pathways for FADS1

	oleate biosynthesis II (animals)
	eicosapentaenoate biosynthesis II (metazoa)

5/9 Reactome Pathways for FADS1 (see all 9)

	Expression of FADS1
	Metabolism
	alpha-linolenic acid (ALA) metabolism
	Fatty acid, triacylglycerol, and ketone body metabolism
	Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)

1 Kegg Pathway (Kegg details for FADS1):

Biosynthesis of unsaturated fatty acids

UniProtKB/Swiss-Prot: FADS1_HUMAN, O60427

Pathway: Lipid metabolism; polyunsaturated fatty acid biosynthesis

FADS1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for FADS1

STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

5/17 Interacting proteins for FADS1 (O60427^{1, 3} ENSP00000322229⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 17)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PAAF1	Q9BRP4¹^,³, ENSP00000311665⁴	EBI-1055473,EBI-1056358 I2D: score=2 STRING: ENSP00000311665
DHCR7	Q9UBM7¹^,³, ENSP00000347717⁴	EBI-1055473,EBI-1054468 I2D: score=2 STRING: ENSP00000347717
SMAD4	Q13485³	I2D: score=1
ELOVL2	ENSP00000346693⁴	STRING: ENSP00000346693
ELOVL5	ENSP00000306640⁴	STRING: ENSP00000306640

About this table

Gene Ontology (GO): 5/24 biological process terms (GO ID links to tree view) (see all 24): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006355	regulation of transcription, DNA-dependent	NAS	10601301
GO:0006629	lipid metabolic process	--	--
GO:0006636	unsaturated fatty acid biosynthetic process	IEA	--
GO:0006950	response to stress	--	--
GO:0007267	cell-cell signaling	NAS	10601301

FADS1 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

FADS1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for FADS1

2 HMDB Compounds for FADS1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Eicosapentaenoic acid	(5Z,8Z,11Z,14Z,17Z)-Eicosapentaenoate (see all 22)	10417-94-4	--
Heme	(protoporphyrinato)iron (see all 19)	14875-96-8	--

2 DrugBank Compounds for FADS1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Alpha-Linolenic Acid	(9Z,12Z,15Z)-Octadecatrienoic acid (see all 5)	463-40-1	target	ligand	8673626 10765977 16988497 11518758 8487621
Icosapent	Eicosapentaenoic acid (see all 4)	10417-94-4	target	agonist	10685788 11026622 9917342 9610840 10917903

10/11 Novoseek chemical compound relationships for FADS1 gene (see all 11) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
dihomo-gamma-linolenic acid	84.7	5	9192987 (1), 11742889 (1), 17466497 (1), 16201244 (1)
fatty acid	80	33	20045144 (2), 10727010 (1), 15748617 (1), 16846730 (1) (see all 21)
linoleic acid	77.5	15	17655842 (2), 18842780 (2), 17551762 (1), 10991775 (1) (see all 10)
arachidonic acid	73.1	20	9566835 (2), 18842780 (2), 12538079 (1), 15015135 (1) (see all 13)
gamma-linolenic acid	70	2	17466497 (1)
docosahexaenoic acid	68.4	4	10991775 (1), 14988642 (1), 17466497 (1)
eicosapentaenoic acid	58.9	5	14988642 (1), 17466497 (1), 18842780 (1)
lipid	45.6	4	16846730 (1), 17136489 (1), 15189125 (1), 18936223 (1)
cholesterol	45	2	12030318 (1), 12706457 (1)
simvastatin	36.8	3	12706457 (1), 17655842 (1)

Search CenterWatch for drugs/clinical trials and news about FADS1

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
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 FADS1 gene:

NM_013402.4

Unigene Cluster for FADS1:

Fatty acid desaturase 1

Hs.503546 [show with all ESTs]

Unigene Representative Sequence: NM_013402

18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):

ENST00000350997(uc001nsh.3 uc010rlm.2) ENST00000536991 ENST00000433932

ENST00000460649 ENST00000542506(uc010rln.1) ENST00000496123 ENST00000539999

ENST00000424501 ENST00000540767 ENST00000545245 ENST00000545405 ENST00000421879

ENST00000491310 ENST00000544696 ENST00000466716 ENST00000544309 ENST00000539419

ENST00000448607

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FADS1
		8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate FADS1 (see all 17):
		hsa-miR-140-5p hsa-miR-495 hsa-miR-128 hsa-miR-877* hsa-miR-7-1* hsa-miR-193a-5p hsa-miR-577 hsa-miR-324-3p

		SwitchGear 3'UTR luciferase reporter plasmid: FADS1 3' UTR sequence

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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FADS1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FADS1

Additional cDNA sequence:

AF035284.1 AF084558.1 AF199596.1 AF226273.1 AF271778.1 AK027427.1 AK027522.1 AK074754.1

AK074819.1 AK096275.1 AK222906.1 AK289552.1 AK298871.1 AK314199.1 AL512760.1 AL834479.1

BC007846.2

24/30 DOTS entries (see all 30):

DT.91817665 DT.449027 DT.92012441 DT.100832147 DT.100030170 DT.99934273 DT.100663661 DT.100663654

DT.100030171 DT.95265965 DT.212451 DT.91809922 DT.95265967 DT.91976567 DT.100016911 DT.100863409

DT.120740062 DT.120740158 DT.75154374 DT.95227593 DT.95285623 DT.100860557 DT.100871596 DT.120739920

24/25 AceView cDNA sequences (see all 25):

NM_013402 CR611884 CR602403 AK096275 CR591980 AL834479 CR597486 BC007846

AL512760 AK074819 AU132018 AK027427 AF226273 AK027522 AF084558 AF199596

AF009756 AK074754 BX388117 BF838230 AF271778 BF835985 BF083018 BF742188

GeneLoc Exon Structure

5/18 Alternative Splicing Database (ASD) splice patterns (SP) for FADS1 (see all 18) About this scheme

ExUns:	1	^	2	^	3	^	4	^	5a	·	5b	·	5c	^	6a	·	6b	^	7	^	8a	·	8b	·	8c	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19a	·	19b	·	19c	^
SP1:					-		-		-		-		-		-										-
SP2:
SP3:																									-
SP4:																									-
SP5:																																															-		-		-

ExUns:	20a	·	20b	·	20c	·	20d	^	21	^	22a	·	22b	^	23	^	24	^	25a	·	25b	·	25c	^	26a	·	26b	^	27	^	28	^	29	^	30	^	31	^	32	^	33
SP1:
SP2:
SP3:
SP4:
SP5:	-		-		-		-		-		-		-

ECgene alternative splicing isoforms for FADS1

(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

FADS1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCGGGCGTGG

About this image

FADS1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Heart

Endocardium

Endocardial Tube Cells

Endocardium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Mature follicles (In-vitro growth and ...)

See FADS1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FADS1

SOURCE GeneReport for Unigene cluster: Hs.503546

UniProtKB/Swiss-Prot: FADS1_HUMAN, O60427

Tissue specificity: Expressed in many tissues, it is most abundant in the liver, brain, adrenal gland and heart. Found

as well in skeletal muscle, lung, placenta, kidney, pancreas and retina

SABiosciences Expression via Pathway-Focused PCR Array including FADS1:

Hepatotoxicity in human mouse rat

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In Situ
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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 FADS1 gene from 5/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	FADS1¹	fatty acid desaturase 1	77.6(n) 80.23(a)		423120 XM_421052.3 XP_421052.3
lizard (Anolis carolinensis)	Reptilia	FADS1⁶ -- (see all 4)	--	71(a) 64(a) (see all 4)	1 ↔ many 1 ↔ many (see all 4)	GL343235.1(2029550-2061770) GL343235.1(1851636-1868229)
worm (Caenorhabditis elegans)	Secernentea	fat-4³	cytochrome B5 containing fusion protein	27(a) (best of 2)		IV(9799648-9802249) --
thale cress (Arabidopsis thaliana)	eudicotyledons	AT2G46210⁶ AT3G61580⁶	Fatty acid/sphingolipid desaturase	25(a) 23(a)	many ↔ many many ↔ many	2(18977344-18979001) 3(22786047-22787972)
rice (Oryza sativa)	Liliopsida	--	desaturase/cytochrome b5 protein, putative, expres...	24(a)	1 → many	9(10337557-10339696)

ENSEMBL Gene Tree for FADS1 (if available)
TreeFam Gene Tree for FADS1 (if available)

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

Paralogs for FADS1 gene

FADS2² FADS3²

7 SIMAP similar genes for FADS1 using alignment to 27 protein entries: FADS1_HUMAN (see all proteins):

FADS2 DKFZp666K083 FADS2P1 FADS3 DKFZp686M0619 CYB5B

CYB5A

FADS1 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for FADS1
PGOHUM00000242734

(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
				--	--	--		--	--
rs148233589^1,2		--	61566652(+)	`CTTGAA/GGCCGG`	1	--	ds500¹		0	--	--	--	--
rs141256183^1,2		--	61566678(+)	`GTGAAC/TTAAGA`	1	--	ds500¹		0	--	--	--	--
rs184582895^1,2		--	61566688(+)	`ATGGCA/CGCACC`	1	--	ds500¹		0	--	--	--	--
rs174542^1,2	H	--	61566953(+)	`GGGTCC/GTGATG`	1	--	ds500¹		6		NS EA NA	404
rs14536^1,2	C	--	61567134(+)	`TTCATA/GGGGAT`	1	--	ut3¹		3		MN NA	188
rs188952822^1,2		--	61567140(+)	`GGGATA/GTGATA`	1	--	ut3¹		0	--	--	--	--
rs150861621^1,2		--	61567158(+)	`TGGCAC/TACACA`	1	--	ut3¹		0	--	--	--	--
rs118171418^1,2	C,F,	--	61567352(+)	`GATTTG/AAGATC`	1	--	ut3¹		1		EA	120
rs200711264^1,2		--	61567669(+)	`GTTGT-/GTTTTT`	1	--	ut3¹		0	--	--	--	--
rs193250731^1,2	C,	--	61567670(+)	`GTTGTG/TTTTTT`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for FADS1 (61567097 - 61596790 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for FADS1: --

SABiosciences Cancer Mutation PCR Assays

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

FADS1 for disorders           About GeneDecksing

OMIM gene information: 606148    OMIM disorders: --

20/22 diseases for FADS1 (see all 22):    About MalaCards

attention deficit hyperactivity disorder age related macular degeneration vitelliform macular dystrophy familial combined hyperlipidemia

major depressive disorder macular degeneration macular dystrophy metabolic syndrome x

insulin resistance hyperlipidemia cystic fibrosis eczema

crohn's disease obesity fibrosis atherosclerosis

cholesterol neuroblastoma immunodeficiency hepatitis

2 Novoseek disease relationships for FADS1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
insulin resistance	40.2	6	15850715 (3), 16896932 (1), 9833942 (1), 8675650 (1)
obesity	15	2	8675650 (1), 15850715 (1)

Human Genome Epidemiology (HuGE) Navigator: FADS1 (46 documents)

Export disorders for FADS1 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 FADS1 gene, integrated from 9 sources (see all 165):
(articles sorted by number of sources associating them with FADS1)

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)
cDNA cloning and characterization of human Delta5-desaturase involved in the biosynthesis of arachidonic acid. (PubMed id 10769175)^{1, 2, 9} Leonard A.E.... Mukerji P. (2000)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Cloning, expression, and fatty acid regulation of the human Delta-5 desaturase. (PubMed id 10601301)^{1, 2} Cho H.P.... Clarke S.D. (1999)
A newly discovered member of the fatty acid desaturase gene family: a non-coding, antisense RNA gene to delta5-desaturase. (PubMed id 16846730)^{1, 9} Dreesen T.D....Gettys T.W. (2006)
Role of FADS1 and FADS2 polymorphisms in polyunsatura ted fatty acid metabolism. (PubMed id 20045144)^{1, 9} Glaser C....Koletzko B. (2009)
Genetically determined variation in polyunsaturated Fatty Acid metabolism may result in different dietary requirements. (PubMed id 18626191)^{1, 9} Koletzko B....Heinrich J. (2008)
Delta5 desaturase mRNA levels are increased by simvastatin via SREBP-1 at early stages, not via PPARalpha, in THP-1 cells. (PubMed id 17655842)^{1, 9} Rise P....Galli C. (2007)
Genetic variants of the FADS1 FADS2 gene cluster as r elated to essential fatty acid metabolism. (PubMed id 19809313)^{1, 9} Lattka E....Heinrich J. (2010)
Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI Study. (PubMed id 19148276)^{1, 9} Tanaka T....Ferrucci L. (2009)

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

		AND	OR
Aliases
Disorders
Free Text

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

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 3992	HGNC: 3574	AceView: FADS1	Ensembl:ENSG00000149485	euGenes: HUgn3992
ECgene: FADS1	Kegg: 3992	H-InvDB: FADS1

(According to HUGE)
About This Section

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

Name	Description
PharmGKB entry for FADS1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for FADS1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for FADS1 gene:
Search GeneIP for patents involving FADS1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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