FADS1: Difference between revisions

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{{Infobox_gene}}
{{PBB_Controls
'''Fatty acid desaturase 1''' is an [[enzyme]] that in humans is encoded by the ''FADS1'' [[gene]].<ref name="entrez"/>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Fatty acid desaturase 1
| HGNCid = 3574
| Symbol = FADS1
| AltSymbols =; D5D; FADS6; FADSD5; FLJ38956; FLJ90273; LLCDL1; TU12
| OMIM = 606148
| ECnumber = 
| Homologene = 22753
| MGIid = 1923517
| Function = {{GNF_GO|id=GO:0005506 |text = iron ion binding}} {{GNF_GO|id=GO:0016491 |text = oxidoreductase activity}} {{GNF_GO|id=GO:0016717 |text = 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}} {{GNF_GO|id=GO:0020037 |text = heme binding}}
| Component = {{GNF_GO|id=GO:0005624 |text = membrane fraction}} {{GNF_GO|id=GO:0005792 |text = microsome}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0006629 |text = lipid metabolic process}} {{GNF_GO|id=GO:0006636 |text = fatty acid desaturation}} {{GNF_GO|id=GO:0007267 |text = cell-cell signaling}} {{GNF_GO|id=GO:0008654 |text = phospholipid biosynthetic process}} {{GNF_GO|id=GO:0009267 |text = cellular response to starvation}} {{GNF_GO|id=GO:0045449 |text = regulation of transcription}} {{GNF_GO|id=GO:0045595 |text = regulation of cell differentiation}} {{GNF_GO|id=GO:0046456 |text = icosanoid biosynthetic process}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 3992
    | Hs_Ensembl = 
    | Hs_RefseqProtein = NP_037534
    | Hs_RefseqmRNA = NM_013402
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 
    | Hs_GenLoc_start = 
    | Hs_GenLoc_end = 
    | Hs_Uniprot = 
    | Mm_EntrezGene = 76267
    | Mm_Ensembl = ENSMUSG00000010663
    | Mm_RefseqmRNA = NM_146094
    | Mm_RefseqProtein = NP_666206
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 19
    | Mm_GenLoc_start = 10249966
    | Mm_GenLoc_end = 10263915
    | Mm_Uniprot = 
  }}
}}
'''Fatty acid desaturase 1''', also known as '''FADS1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: FADS1 fatty acid desaturase 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3992| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
The protein encoded by the FADS1 gene is a member of the [[fatty acid desaturase]] (FADS) gene family and desaturates omega-3 and omega-6 [[polyunsaturated fatty acid]]s at the delta-5 position, catalyzing the final step in the formation of [[eicosapentaenoic acid]] (EPA) and [[Arachidonic acid]].<ref>{{cite journal|last1=Brenna|first1=J Thomas|title=An alternate pathway to long-chain polyunsaturates: the FADS2 gene product Δ8-desaturates 20:2n-6 and 20:3n-3|journal=Journal of Lipid Research|date=June 2009|volume=50|issue=6|page=1195|doi=10.1194/jlr.M800630-JLR200|pmid=19202133|pmc=2681401}}</ref> Desaturase enzymes (such as those encoded by FADS1) regulate unsaturation of [[fatty acid]]s 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-terminus|N-terminal]] [[cytochrome b5]]-like domain and a [[C-terminus|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.<ref name="entrez">{{cite web | title = Entrez Gene: FADS1 fatty acid desaturase 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3992| accessdate = }}</ref>
{{PBB_Summary
 
| section_title =
== Clinical significance ==
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: FADS1 fatty acid desaturase 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3992| accessdate = }}</ref>
[[Single nucleotide polymorphisms]] (SNPs) of FADS1 and FADS2 may affect long-chain [[polyunsaturated]] [[fatty acids]] (LC-PUFA) metabolism and have a potential role in the development of [[atopy|atopic]] diseases.<ref name="Lattka2009">{{Cite journal
}}
| last1 = Lattka | first1 = E.
| last2 = Illig | first2 = T.
| last3 = Heinrich | first3 = J.
| last4 = Koletzko | first4 = B.
| title = ''FADS'' Gene Cluster Polymorphisms: Important Modulators of Fatty Acid Levels and Their Impact on Atopic Diseases
| doi = 10.1159/000235559
| journal = Journal of Nutrigenetics and Nutrigenomics
| volume = 2
| issue = 3
| pages = 119–128
| year = 2009
| pmid = 19776639
| pmc =
}}</ref>


==References==
==References==
{{reflist|2}}
{{reflist}}
{{Clear}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
*{{cite journal  |vauthors=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1–2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=10.1016/0378-1119(94)90802-8 }}
| citations =
*{{cite journal  | author=Andersson B |title=A "double adaptor" method for improved shotgun library construction |journal=Anal. Biochem. |volume=236 |issue= 1 |pages= 107–13 |year= 1996 |pmid= 8619474 |doi= 10.1006/abio.1996.0138  |name-list-format=vanc| author2=Wentland MA  | author3=Ricafrente JY  | display-authors=3  | last4=Liu  | first4=W  | last5=Gibbs  | first5=RA }}
*{{cite journal  | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171-4 |year= 1994 |pmid= 8125298 |doi=  }}
*{{cite journal  | author=Suzuki Y |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library |journal=Gene |volume=200 |issue= 1–2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=10.1016/S0378-1119(97)00411-3  |name-list-format=vanc| author2=Yoshitomo-Nakagawa K  | author3=Maruyama K  | display-authors=3  | last4=Suyama  | first4=Akira  | last5=Sugano  | first5=Sumio }}
*{{cite journal  | author=Andersson B, Wentland MA, Ricafrente JY, ''et al.'' |title=A "double adaptor" method for improved shotgun library construction. |journal=Anal. Biochem. |volume=236 |issue= 1 |pages= 107-13 |year= 1996 |pmid= 8619474 |doi= 10.1006/abio.1996.0138 }}
*{{cite journal  | author=Stöhr H |title=A Gene Map of the Best's Vitelliform Macular Dystrophy Region in Chromosome 11q12–q13.1 |journal=Genome Res. |volume=8 |issue= 1 |pages= 48–56 |year= 1998 |pmid= 9445487 |doi= 10.1101/gr.8.1.48| pmc=310689  |name-list-format=vanc| author2=Marquardt A  | author3=Rivera A  | display-authors=3  | last4=Cooper  | first4=PR  | last5=Nowak  | first5=NJ  | last6=Shows  | first6=TB  | last7=Gerhard  | first7=DS  | last8=Weber  | first8=BH }}
*{{cite journal | author=Yu W, Andersson B, Worley KC, ''et al.'' |title=Large-scale concatenation cDNA sequencing. |journal=Genome Res. |volume=7 |issue= 4 |pages= 353-8 |year= 1997 |pmid= 9110174 |doi=  }}
*{{cite journal  |vauthors=Cho HP, Nakamura M, Clarke SD |title=Cloning, expression, and fatty acid regulation of the human delta-5 desaturase |journal=J. Biol. Chem. |volume=274 |issue= 52 |pages= 37335–9 |year= 2000 |pmid= 10601301 |doi=10.1074/jbc.274.52.37335 }}
*{{cite journal  | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, ''et al.'' |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149-56 |year= 1997 |pmid= 9373149 |doi=  }}
*{{cite journal  | author=Leonard AE |title=cDNA cloning and characterization of human Delta5-desaturase involved in the biosynthesis of arachidonic acid |journal=Biochem. J. |volume=347 Pt 3 |issue=  3|pages= 719–24 |year= 2000 |pmid= 10769175 |doi=10.1042/0264-6021:3470719 | pmc=1221008  |name-list-format=vanc| author2=Kelder B  | author3=Bobik EG  | display-authors=3  | last4=Chuang  | first4=Lu-Te | last5=Parker-Barnes  | first5=Jennifer M. | last6=Thurmond  | first6=Jennifer M.  | last7=Kroeger  | first7=Paul E.  | last8=Kopchick  | first8=John J. | last9=Huang  | first9=Yung-Sheng  }}
*{{cite journal  | author=Stöhr H, Marquardt A, Rivera A, ''et al.'' |title=A gene map of the Best's vitelliform macular dystrophy region in chromosome 11q12-q13.1. |journal=Genome Res. |volume=8 |issue= 1 |pages= 48-56 |year= 1998 |pmid= 9445487 |doi=  }}
*{{cite journal  |vauthors=Marquardt A, Stöhr H, White K, Weber BH |title=cDNA cloning, genomic structure, and chromosomal localization of three members of the human fatty acid desaturase family |journal=Genomics |volume=66 |issue= 2 |pages= 175–83 |year= 2000 |pmid= 10860662 |doi= 10.1006/geno.2000.6196 }}
*{{cite journal  | author=Cho HP, Nakamura M, Clarke SD |title=Cloning, expression, and fatty acid regulation of the human delta-5 desaturase. |journal=J. Biol. Chem. |volume=274 |issue= 52 |pages= 37335-9 |year= 2000 |pmid= 10601301 |doi=  }}
*{{cite journal  | author=Brizio C |title=Over-expression in Escherichia coli and characterization of two recombinant isoforms of human FAD synthetase |journal=Biochem. Biophys. Res. Commun. |volume=344 |issue= 3 |pages= 1008–16 |year= 2006 |pmid= 16643857 |doi= 10.1016/j.bbrc.2006.04.003 |name-list-format=vanc| author2=Galluccio M  | author3=Wait R  | display-authors=3  | last4=Torchetti  | first4=Enza Maria  | last5=Bafunno  | first5=Valeria  | last6=Accardi  | first6=Rosita  | last7=Gianazza  | first7=Elisabetta  | last8=Indiveri  | first8=Cesare  | last9=Barile  | first9=Maria }}
*{{cite journal  | author=Leonard AE, Kelder B, Bobik EG, ''et al.'' |title=cDNA cloning and characterization of human Delta5-desaturase involved in the biosynthesis of arachidonic acid. |journal=Biochem. J. |volume=347 Pt 3 |issue=  |pages= 719-24 |year= 2000 |pmid= 10769175 |doi= }}
*{{cite journal  | author=Schaeffer L |title=Common genetic variants of the FADS1 FADS2 gene cluster and their reconstructed haplotypes are associated with the fatty acid composition in phospholipids |journal=Hum. Mol. Genet. |volume=15 |issue= 11 |pages= 1745–56 |year= 2006 |pmid= 16670158 |doi= 10.1093/hmg/ddl117 |name-list-format=vanc| author2=Gohlke H  | author3=Müller M  | display-authors=3  | last4=Heid  | first4=IM  | last5=Palmer  | first5=LJ  | last6=Kompauer  | first6=I  | last7=Demmelmair  | first7=H  | last8=Illig  | first8=T  | last9=Koletzko  | first9=B }}
*{{cite journal | author=Marquardt A, Stöhr H, White K, Weber BH |title=cDNA cloning, genomic structure, and chromosomal localization of three members of the human fatty acid desaturase family. |journal=Genomics |volume=66 |issue= 2 |pages= 175-83 |year= 2000 |pmid= 10860662 |doi= 10.1006/geno.2000.6196 }}
*{{cite journal  | author=Ma J |title=Identifying leukocyte gene expression patterns associated with plasma lipid levels in human subjects |journal=Atherosclerosis |volume=191 |issue= 1 |pages= 63–72 |year= 2007 |pmid= 16806233 |doi= 10.1016/j.atherosclerosis.2006.05.032 |name-list-format=vanc| author2=Dempsey AA  | author3=Stamatiou D  | display-authors=3  | last4=Marshall  | first4=K.Wayne  | last5=Liew  | first5=Choong-Chin }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | author=Dreesen TD |title=A newly discovered member of the fatty acid desaturase gene family: a non-coding, antisense RNA gene to delta5-desaturase |journal=Prostaglandins Leukot. Essent. Fatty Acids |volume=75 |issue= 2 |pages= 97–106 |year= 2006 |pmid= 16846730 |doi= 10.1016/j.plefa.2006.05.001 |name-list-format=vanc| author2=Adamson AW  | author3=Tekle M  | display-authors=3  | last4=Tang  | first4=Chongren  | last5=Cho  | first5=Hyekung P.  | last6=Clarke  | first6=Steven D.  | last7=Gettys  | first7=Thomas W. }}
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  | author=Ewing RM |title=Large-scale mapping of human protein–protein interactions by mass spectrometry |journal=Mol. Syst. Biol. |volume=3 |issue=  1|pages= 89 |year= 2007 |pmid= 17353931 |doi= 10.1038/msb4100134 | pmc=1847948  |name-list-format=vanc| author2=Chu P  | author3=Elisma F  | display-authors=3  | last4=Li  | first4=Hongyan  | last5=Taylor  | first5=Paul  | last6=Climie  | first6=Shane  | last7=McBroom-Cerajewski  | first7=Linda  | last8=Robinson  | first8=Mark D  | last9=O'Connor  | first9=Liam }}
*{{cite journal  | author=Otsuki T, Ota T, Nishikawa T, ''et al.'' |title=Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. |journal=DNA Res. |volume=12 |issue= 2 |pages= 117-26 |year= 2007 |pmid= 16303743 |doi= 10.1093/dnares/12.2.117 }}
*{{cite journal  | author=Risé P |title=Delta5 desaturase mRNA levels are increased by simvastatin via SREBP-1 at early stages, not via PPARalpha, in THP-1 cells |journal=Eur. J. Pharmacol. |volume=571 |issue= 2–3 |pages= 97–105 |year= 2007 |pmid= 17655842 |doi= 10.1016/j.ejphar.2007.06.021 |name-list-format=vanc| author2=Ghezzi S  | author3=Carissimi R  | display-authors=3  | last4=Mastromauro  | first4=Francesca  | last5=Petroni  | first5=Anna  | last6=Galli  | first6=Claudio }}
*{{cite journal  | author=Brizio C, Galluccio M, Wait R, ''et al.'' |title=Over-expression in Escherichia coli and characterization of two recombinant isoforms of human FAD synthetase. |journal=Biochem. Biophys. Res. Commun. |volume=344 |issue= 3 |pages= 1008-16 |year= 2006 |pmid= 16643857 |doi= 10.1016/j.bbrc.2006.04.003 }}
*{{cite journal  | author=Schaeffer L, Gohlke H, Müller M, ''et al.'' |title=Common genetic variants of the FADS1 FADS2 gene cluster and their reconstructed haplotypes are associated with the fatty acid composition in phospholipids. |journal=Hum. Mol. Genet. |volume=15 |issue= 11 |pages= 1745-56 |year= 2006 |pmid= 16670158 |doi= 10.1093/hmg/ddl117 }}
*{{cite journal  | author=Ma J, Dempsey AA, Stamatiou D, ''et al.'' |title=Identifying leukocyte gene expression patterns associated with plasma lipid levels in human subjects. |journal=Atherosclerosis |volume=191 |issue= 1 |pages= 63-72 |year= 2007 |pmid= 16806233 |doi= 10.1016/j.atherosclerosis.2006.05.032 }}
*{{cite journal  | author=Dreesen TD, Adamson AW, Tekle M, ''et al.'' |title=A newly discovered member of the fatty acid desaturase gene family: a non-coding, antisense RNA gene to delta5-desaturase. |journal=Prostaglandins Leukot. Essent. Fatty Acids |volume=75 |issue= 2 |pages= 97-106 |year= 2006 |pmid= 16846730 |doi= 10.1016/j.plefa.2006.05.001 }}
*{{cite journal  | author=Ewing RM, Chu P, Elisma F, ''et al.'' |title=Large-scale mapping of human protein-protein interactions by mass spectrometry. |journal=Mol. Syst. Biol. |volume=3 |issue=  |pages= 89 |year= 2007 |pmid= 17353931 |doi= 10.1038/msb4100134 }}
*{{cite journal  | author=Risé P, Ghezzi S, Carissimi R, ''et al.'' |title=Delta5 desaturase mRNA levels are increased by simvastatin via SREBP-1 at early stages, not via PPARalpha, in THP-1 cells. |journal=Eur. J. Pharmacol. |volume=571 |issue= 2-3 |pages= 97-105 |year= 2007 |pmid= 17655842 |doi= 10.1016/j.ejphar.2007.06.021 }}
}}
{{refend}}
{{refend}}
{{Dioxygenases}}
{{Enzymes}}
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Latest revision as of 04:31, 31 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Fatty acid desaturase 1 is an enzyme that in humans is encoded by the FADS1 gene.[1]

Function

The protein encoded by the FADS1 gene is a member of the fatty acid desaturase (FADS) gene family and desaturates omega-3 and omega-6 polyunsaturated fatty acids at the delta-5 position, catalyzing the final step in the formation of eicosapentaenoic acid (EPA) and Arachidonic acid.[2] Desaturase enzymes (such as those encoded by FADS1) 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.[1]

Clinical significance

Single nucleotide polymorphisms (SNPs) of FADS1 and FADS2 may affect long-chain polyunsaturated fatty acids (LC-PUFA) metabolism and have a potential role in the development of atopic diseases.[3]

References

  1. ↑ 1.0 1.1 "Entrez Gene: FADS1 fatty acid desaturase 1".
  2. ↑ Brenna, J Thomas (June 2009). "An alternate pathway to long-chain polyunsaturates: the FADS2 gene product Δ8-desaturates 20:2n-6 and 20:3n-3". Journal of Lipid Research. 50 (6): 1195. doi:10.1194/jlr.M800630-JLR200. PMC 2681401. PMID 19202133.
  3. ↑ Lattka, E.; Illig, T.; Heinrich, J.; Koletzko, B. (2009). "FADS Gene Cluster Polymorphisms: Important Modulators of Fatty Acid Levels and Their Impact on Atopic Diseases". Journal of Nutrigenetics and Nutrigenomics. 2 (3): 119–128. doi:10.1159/000235559. PMID 19776639.

Further reading


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