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Aliases & Descriptions for FADS1
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| D5D 1, 2, 3 | | EC 1.14.19.- 3 | | FADS6 1, 2 | | FADSD5 1, 2, 3 | | FLJ38956 2 | | FLJ90273 2 | | LLCDL1 2 | | TU12 1, 2 |
| | | Descriptions |
|---|
| Delta(5) desaturase 2, 3 | | Delta(5) fatty acid desaturase 3 | | delta-5 desaturase 2 | | delta-5 fatty acid desaturase 2 | | fatty acid desaturase 1 2 | | linoleoyl-CoA desaturase (delta-6-desaturase)-like 1 2 |
|
| | Search outside databases for aliases for FADS1 genePrevious GC identifers: GC11M064080 GC11M063143 GC11M061817 GC11M061342 |
Summaries for FADS1(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene 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] UniProtKB/Swiss-Prot: FADS1_HUMAN, O60427Function: 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) respectivelyGene Wiki entry for FADS1 |
Genomic Location for FADS1
(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 FADS1 gene 
Entrez Gene cytogenetic band: 11q12.2-q13.1 Ensembl cytogenetic band: 11q12.2 HGNC cytogenetic band: 11q12-q13.1FADS1 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 GC11M061323:
(about GC identifiers)
Start:
|
61,323,679 bp from pter |
End:
|
61,340,886 bp from pter |
Size:
|
17,208 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000011.8 NT_033903.7
| Proteins for FADS1
(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: FADS1_HUMAN, O60427 (See
protein sequence)Recommended Name: Fatty acid desaturase 1 Size: 444 amino acids; 51964 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein (Potential)
Developmental stage: Highly expressed in fetal liver and fetal brain
Secondary accessions: B2RAI0 Q53GM5 Q8N3A6 Q8NCC7 Q8NCG0 Q96I39 Q96SV3 Q96T10 Q9NRP8 Q9NYX1REFSEQ proteins: NP_037534.3
ENSEMBL proteins: ENSP00000322229
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6
): About this table
Antibodies for FADS1: Assays for FADS1: | Protein
Domains/ Families for FADS1(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - 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, O60427Domain: The histidine box domains may contain the active site and/or be involved in metal ion bindingSimilarity: Belongs to the fatty acid desaturase familySimilarity: Contains 1 cytochrome b5 heme-binding domain | Gene Function for FADS1
(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
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_013402
Applied Biosystems Silencer® siRNAs for FADS1
Sigma-Aldrich siRNA and siRNA Panels for FADS1  Sigma-Aldrich shRNA for FADS1  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_013402                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_013402                                  untagged cDNA clones in CMV expression vector (see all 3): BD127299 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_013402
UniProtKB/Swiss-Prot: FADS1_HUMAN, O60427Function: 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) respectivelyEnzyme Number (IUBMB): EC 1.14.19.- 4 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for FADS1
(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
| 2 Sigma-Aldrich "Your Favorite Gene" Pathways for FADS1 (Your Favorite Gene powered by Ingenuity) 
UniProtKB/Swiss-Prot: FADS1_HUMAN, O60427Pathway: Lipid metabolism; polyunsaturated fatty acid biosynthesis Gene Network CentralTM Interacting Genes and Proteins Network for FADS1 
5/13 Interacting proteins for FADS1 (ENSP000003222293 O604271) via UniProtKB, MINT, and/or STRING (see all 13
)About this table
5/9 Gene Ontology (GO) biological process terms (links to tree view) (see all 9
): About this table
|
Drugs & Compounds for FADS1(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 Tocris compounds for FADS1 9 Novoseek chemical compound relationships for FADS1 gene
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| dihomo-gamma-linolenic acid |
85.98 |
5 |
9192987 (1), 11742889 (1), 17466497 (1), 16201244 (1) |
| fatty acid |
79.10 |
19 |
10727010 (1), 15748617 (1), 16846730 (1), 19195843 (1) (see all 14) |
| linoleic acid |
77.94 |
14 |
17655842 (2), 18842780 (2), 17551762 (1), 10991775 (1) (see all 9) |
| arachidonic acid |
73.03 |
20 |
9566835 (2), 18842780 (2), 12538079 (1), 15015135 (1) (see all 13) |
| docosahexaenoic acid |
69.25 |
4 |
10991775 (1), 14988642 (1), 17466497 (1) |
| eicosapentaenoic acid |
61.94 |
5 |
14988642 (1), 17466497 (1), 18842780 (1) |
| lipid |
46.69 |
4 |
16846730 (1), 17136489 (1), 15189125 (1), 18936223 (1) |
| cholesterol |
45.28 |
2 |
12030318 (1), 12706457 (1) |
| phospholipid |
35.43 |
2 |
18626191 (1), 18936223 (1) |
About this table
|
Transcripts for FADS1(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
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_013402
Sigma-Aldrich siRNA and siRNA Panels for FADS1  Sigma-Aldrich shRNA for FADS1  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_013402 REFSEQ mRNAs for FADS1 gene: NM_013402.4
Applied Biosystems TaqMan ® Gene Expression Assays: NM_013402               OriGene GFP tagged cDNA clone in CMV expression vector: NM_013402                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_013402                                  untagged cDNA clones in CMV expression vector (see all 3): BD127299  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 CR591980.1 CR597486.1 CR602403.1 CR611884.1 24/34 DOTS entries (see all 34
): 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.70104817 DT.91976567 DT.100016911 DT.100863409 DT.120740062 DT.120740158 DT.75154374 DT.95227593 DT.95285623 DT.100860557 DT.120739920 24/25 AceView cDNA sequences (see all 25
):AK096275 CR597486 AL512760 AL834479 CR602403 NM_013402 BC007846 CR591980 AK074819 CR611884 AK027522 AF199596 AF084558 AF226273 AU132018 AK027427 AK074754 AF009756 BX388117 BF838230 AF271778 BF835985 BF742188 BF083018
highest scoring ESTs for FADS1:AK027427 AK027522 AK074754 AK074819 BC007846 AF084558 AL512760 AA613790 AF009756 AF009757 Unigene Cluster for FADS1: Fatty acid desaturase 1 Hs.503546 [show with all ESTs]Unigene Representative Sequence: NM_013402
GeneLoc Exon Structure
5/18 Alternative Splicing Database (ASD) splice patterns (SP) for FADS1 (see all 18
)
| 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: | - |   | - |   | - |   | - |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for FADS1
1 Ensembl transcript including schematic representation: ENST00000350997
|
Expression for FADS1
(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
| FADS1 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for FADS1
1 / 2 / 3 12 probe-sets matching FADS1 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: CCGGGCGTGG
SOURCE GeneReport for Unigene cluster: Hs.503546
Expression variation in blood from EXPOLDB for FADS1 UniProtKB/Swiss-Prot: FADS1_HUMAN, O60427Tissue 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 |
Orthologs for FADS1
(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 FADS1 gene from 5/7 species (see all 7
)
About this table Species with no ortholog for FADS1
ENSEMBL Gene Tree for FADS1 | Paralogs for FADS1(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for FADS1 gene
- FADS22 LOC6431812 FADS32
|
SNPs/Variants for FADS1(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for FADS1 (up to first 250kb)
|
Disorders & Mutations for FADS1
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 606148
2 Novoseek disease relationships for FADS1 gene
About this table
Human Genome Epidemiology Navigator: FADS1 (11 documents)
|
Medical News for FADS1(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for FADS1 (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
| 10/83 PubMed articles for FADS1 gene (see all 83
):- cDNA cloning, genomic structure, and chromosomal localization of three members of the human fatty acid desaturase family. (PubMed id 10860662)1, 3, 4 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, 3, 4 Leonard A.E.... Mukerji P. (2000)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)3, 4 Ota T....Sugano S. (2004)
- Cloning, expression, and fatty acid regulation of the human Delta-5 desaturase. (PubMed id 10601301)3, 4 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, 3 Dreesen T.D....Gettys T.W. (2006)
- Genetically determined variation in polyunsaturated Fatty Acid metabolism may result in different dietary requirements. (PubMed id 18626191)1, 3 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, 3 Rise P....Galli C. (2007)
- Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI Study. (PubMed id 19148276)1, 3 Tanaka T....Ferrucci L. (2009)
- Genetic variants of the FADS1 FADS2 gene cluster are associated with altered (n-6) and (n-3) essential fatty acids in plasma and erythrocyte phospholipids in women during pregnancy and in breast milk during lactation. (PubMed id 18936223)1, 3 Xie L. and Innis S.M. (2008)
- FADS genotypes and desaturase activity estimated by the ratio of arachidonic acid to linoleic acid are associated with inflammation and coronary artery disease. (PubMed id 18842780)1, 3 Martinelli N....Olivieri O. (2008)
|
Search for FADS1
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing FADS1
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing FADS1
(According to HUGE)
About This Section
| -- |
Specialized Databases showing FADS1(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
|
| About This Section
| --
| Services for FADS1(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 FADS1:

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