NameFatty acid desaturase 1
Synonyms
  • 1.14.19.-
  • D5D
  • Delta-5 desaturase
  • Delta(5) desaturase
  • Delta(5) fatty acid desaturase
  • FADSD5
Gene NameFADS1
OrganismHuman
Amino acid sequence
>lcl|BSEQ0001770|Fatty acid desaturase 1
MAPDPVAAETAAQGPTPRYFTWDEVAQRSGCEERWLVIDRKVYNISEFTRRHPGGSRVIS
HYAGQDATDPFVAFHINKGLVKKYMNSLLIGELSPEQPSFEPTKNKELTDEFRELRATVE
RMGLMKANHVFFLLYLLHILLLDGAAWLTLWVFGTSFLPFLLCAVLLSAVQAQAGWLQHD
FGHLSVFSTSKWNHLLHHFVIGHLKGAPASWWNHMHFQHHAKPNCFRKDPDINMHPFFFA
LGKILSVELGKQKKKYMPYNHQHKYFFLIGPPALLPLYFQWYIFYFVIQRKKWVDLAWMI
TFYVRFFLTYVPLLGLKAFLGLFFIVRFLESNWFVWVTQMNHIPMHIDHDRNMDWVSTQL
QATCNVHKSAFNDWFSGHLNFQIEHHLFPTMPRHNYHKVAPLVQSLCAKHGIEYQSKPLL
SAFADIIHSLKESGQLWLDAYLHQ
Number of residues444
Molecular Weight51963.945
Theoretical pI9.15
GO Classification
Functions
  • C-5 sterol desaturase activity
  • oxidoreductase activity
Processes
  • cellular lipid metabolic process
  • alpha-linolenic acid metabolic process
  • unsaturated fatty acid metabolic process
  • cellular response to starvation
  • icosanoid biosynthetic process
  • linoleic acid metabolic process
  • phospholipid biosynthetic process
  • unsaturated fatty acid biosynthetic process
  • cell-cell signaling
  • regulation of cell differentiation
  • small molecule metabolic process
  • regulation of transcription, DNA-templated
Components
  • mitochondrion
  • membrane
  • endoplasmic reticulum membrane
  • integral component of membrane
  • intracellular membrane-bounded organelle
General FunctionOxidoreductase activity
Specific FunctionIsoform 2 does not exhibit any catalytic activity toward 20:3n-6, but it may enhance FADS2 activity (By similarity). Isoform 1 is a 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.
Pfam Domain Function
Transmembrane Regions122-142 146-170 268-288 306-326
GenBank Protein ID3169158
UniProtKB IDO60427
UniProtKB Entry NameFADS1_HUMAN
Cellular LocationEndoplasmic reticulum membrane
Gene sequence
>lcl|BSEQ0010626|Fatty acid desaturase 1 (FADS1)
ATGGGAACGCGCGCTGCGAGGCCCGCCGGTCTGCCCTGCGGTGCTGAAAACCCGGCGCGC
AGGCGGCTGGCTCTGGGCGCGCGCCAGCAAATCCACTCCTGGAGCCCGCGGACCCCGAGC
ACGCGCCTGACAGCCCCTGCTGGCCCGGCGCGCGGCGTCGCCAGGCCAGCTATGGCCCCC
GACCCGGTGGCCGCCGAGACCGCGGCTCAGGGACCTACCCCGCGCTACTTCACCTGGGAC
GAGGTGGCCCAGCGCTCAGGGTGCGAGGAGCGGTGGCTAGTGATCGACCGTAAGGTGTAC
AACATCAGCGAGTTCACCCGCCGGCATCCAGGGGGCTCCCGGGTCATCAGCCACTACGCC
GGGCAGGATGCCACGGATCCCTTTGTGGCCTTCCACATCAACAAGGGCCTTGTGAAGAAG
TATATGAACTCTCTCCTGATTGGAGAACTGTCTCCAGAGCAGCCCAGCTTTGAGCCCACC
AAGAATAAAGAGCTGACAGATGAGTTCCGGGAGCTGCGGGCCACAGTGGAGCGGATGGGG
CTCATGAAGGCCAACCATGTCTTCTTCCTGCTGTACCTGCTGCACATCTTGCTGCTGGAT
GGTGCAGCCTGGCTCACCCTTTGGGTCTTTGGGACGTCCTTTTTGCCCTTCCTCCTCTGT
GCGGTGCTGCTCAGTGCAGTTCAGGCCCAGGCTGGCTGGCTGCAGCATGACTTTGGGCAC
CTGTCGGTCTTCAGCACCTCAAAGTGGAACCATCTGCTACATCATTTTGTGATTGGCCAC
CTGAAGGGGGCCCCCGCCAGTTGGTGGAACCACATGCACTTCCAGCACCATGCCAAGCCC
AACTGCTTCCGCAAAGACCCAGACATCAACATGCATCCCTTCTTCTTTGCCTTGGGGAAG
ATCCTCTCTGTGGAGCTTGGGAAACAGAAGAAAAAATATATGCCGTACAACCACCAGCAC
AAATACTTCTTCCTAATTGGGCCCCCAGCCTTGCTGCCTCTCTACTTCCAGTGGTATATT
TTCTATTTTGTTATCCAGCGAAAGAAGTGGGTGGACTTGGCCTGGATGATTACCTTCTAC
GTCCGCTTCTTCCTCACTTATGTGCCACTATTGGGGCTGAAAGCCTTCCTGGGCCTTTTC
TTCATAGTCAGGTTCCTGGAAAGCAACTGGTTTGTGTGGGTGACACAGATGAACCATATT
CCCATGCACATTGATCATGACCGGAACATGGACTGGGTTTCCACCCAGCTCCAGGCCACA
TGCAATGTCCACAAGTCTGCCTTCAATGACTGGTTCAGTGGACACCTCAACTTCCAGATT
GAGCACCATCTTTTTCCCACGATGCCTCGACACAATTACCACAAAGTGGCTCCCCTGGTG
CAGTCCTTGTGTGCCAAGCATGGCATAGAGTACCAGTCCAAGCCCCTGCTGTCAGCCTTC
GCCGACATCATCCACTCACTAAAGGAGTCAGGGCAGCTCTGGCTAGATGCCTATCTTCAC
CAATAA
GenBank Gene IDAC004770
GeneCard IDNot Available
GenAtlas IDDKFZp762M2311
HGNC IDHGNC:3574
Chromosome Location11
LocusNot Available
References
  1. Cho HP, Nakamura M, Clarke SD: Cloning, expression, and fatty acid regulation of the human delta-5 desaturase. J Biol Chem. 1999 Dec 24;274(52):37335-9. 10601301
  2. Leonard AE, Kelder B, Bobik EG, Chuang LT, Parker-Barnes JM, Thurmond JM, Kroeger PE, Kopchick JJ, Huang YS, Mukerji P: cDNA cloning and characterization of human Delta5-desaturase involved in the biosynthesis of arachidonic acid. Biochem J. 2000 May 1;347 Pt 3:719-24. 10769175
  3. Marquardt A, Stohr H, White K, Weber BH: cDNA cloning, genomic structure, and chromosomal localization of three members of the human fatty acid desaturase family. Genomics. 2000 Jun 1;66(2):175-83. 10860662
  4. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. 14702039
  5. Bechtel S, Rosenfelder H, Duda A, Schmidt CP, Ernst U, Wellenreuther R, Mehrle A, Schuster C, Bahr A, Blocker H, Heubner D, Hoerlein A, Michel G, Wedler H, Kohrer K, Ottenwalder B, Poustka A, Wiemann S, Schupp I: The full-ORF clone resource of the German cDNA Consortium. BMC Genomics. 2007 Oct 31;8:399. 17974005
  6. Taylor TD, Noguchi H, Totoki Y, Toyoda A, Kuroki Y, Dewar K, Lloyd C, Itoh T, Takeda T, Kim DW, She X, Barlow KF, Bloom T, Bruford E, Chang JL, Cuomo CA, Eichler E, FitzGerald MG, Jaffe DB, LaButti K, Nicol R, Park HS, Seaman C, Sougnez C, Yang X, Zimmer AR, Zody MC, Birren BW, Nusbaum C, Fujiyama A, Hattori M, Rogers J, Lander ES, Sakaki Y: Human chromosome 11 DNA sequence and analysis including novel gene identification. Nature. 2006 Mar 23;440(7083):497-500. 16554811
  7. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. 15489334
  8. Park WJ, Kothapalli KS, Reardon HT, Lawrence P, Qian SB, Brenna JT: A novel FADS1 isoform potentiates FADS2-mediated production of eicosanoid precursor fatty acids. J Lipid Res. 2012 Aug;53(8):1502-12. doi: 10.1194/jlr.M025312. Epub 2012 May 22. 22619218
  9. Van Damme P, Lasa M, Polevoda B, Gazquez C, Elosegui-Artola A, Kim DS, De Juan-Pardo E, Demeyer K, Hole K, Larrea E, Timmerman E, Prieto J, Arnesen T, Sherman F, Gevaert K, Aldabe R: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB. Proc Natl Acad Sci U S A. 2012 Jul 31;109(31):12449-54. doi: 10.1073/pnas.1210303109. Epub 2012 Jul 18. 22814378