Fatty acid desaturase 2

NameFatty acid desaturase 2
Synonyms
  • 1.14.19.3
  • Acyl-CoA 6-desaturase
  • D6D
  • Delta-6 desaturase
  • Delta(6) desaturase
  • Delta(6) fatty acid desaturase
Gene NameFADS2
OrganismHuman
Amino acid sequence
>lcl|BSEQ0004408|Fatty acid desaturase 2
MGKGGNQGEGAAEREVSVPTFSWEEIQKHNLRTDRWLVIDRKVYNITKWSIQHPGGQRVI
GHYAGEDATDAFRAFHPDLEFVGKFLKPLLIGELAPEEPSQDHGKNSKITEDFRALRKTA
EDMNLFKTNHVFFLLLLAHIIALESIAWFTVFYFGNGWIPTLITAFVLATSQAQAGWLQH
DYGHLSVYRKPKWNHLVHKFVIGHLKGASANWWNHRHFQHHAKPNIFHKDPDVNMLHVFV
LGEWQPIEYGKKKLKYLPYNHQHEYFFLIGPPLLIPMYFQYQIIMTMIVHKNWVDLAWAV
SYYIRFFITYIPFYGILGALLFLNFIRFLESHWFVWVTQMNHIVMEIDQEAYRDWFSSQL
TATCNVEQSFFNDWFSGHLNFQIEHHLFPTMPRHNLHKIAPLVKSLCAKHGIEYQEKPLL
RALLDIIRSLKKSGKLWLDAYLHK
Number of residues444
Molecular Weight52259.075
Theoretical pI9.18
GO Classification
Functions
  • linoleoyl-CoA desaturase activity
  • stearoyl-CoA 9-desaturase activity
Processes
  • small molecule metabolic process
  • alpha-linolenic acid metabolic process
  • unsaturated fatty acid metabolic process
  • linoleic acid metabolic process
  • unsaturated fatty acid biosynthetic process
Components
  • membrane
  • endoplasmic reticulum membrane
  • integral component of plasma membrane
General FunctionStearoyl-coa 9-desaturase activity
Specific FunctionComponent 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 first and rate limiting step in this pathway which is the desaturation of LA (18:2n-6) and ALA (18:3n-3) into gamma-linoleic acid (GLA) (18:3n-6) and stearidonic acid (18:4n-3) respectively and other desaturation steps. Highly unsaturated fatty acids (HUFA) play pivotal roles in many biological functions. It catalizes as well the introduction of a cis double bond in palmitate to produce the mono-unsaturated fatty acid sapienate, the most abundant fatty acid in sebum.
Pfam Domain Function
Transmembrane Regions132-152 158-178 265-285 306-326
GenBank Protein ID4406528
UniProtKB IDO95864
UniProtKB Entry NameFADS2_HUMAN
Cellular LocationEndoplasmic reticulum membrane
Gene sequence
>lcl|BSEQ0011620|Fatty acid desaturase 2 (FADS2)
ATGCACGGCAGGGAGGCGGGACCCTTTGTTTGTGTGTGCGTGTTGTTGGCCTCCATCCCC
ACTCCCCAGACTCCACTTCTCCAGGCCTCTCTCCCGCCTTTTCATCCCGCATCCGCAGGA
CACCCAATCACCGGGCAACAGGATGCCTTCCGCGCCTTCCACCCTGACCTGGAATTCGTG
GGCAAGTTCTTGAAACCCCTGCTGATTGGTGAACTGGCCCCGGAGGAGCCCAGCCAGGAC
CACGGCAAGAACTCAAAGATCACTGAGGACTTCCGGGCCCTGAGGAAGACGGCTGAGGAC
ATGAACCTGTTCAAGACCAACCACGTGTTCTTCCTCCTCCTCCTGGCCCACATCATCGCC
CTGGAGAGCATTGCATGGTTCACTGTCTTTTACTTTGGCAATGGCTGGATTCCTACCCTC
ATCACGGCCTTTGTCCTTGCTACCTCTCAGGCCCAAGCTGGATGGCTGCAACATGATTAT
GGCCACCTGTCTGTCTACAGAAAACCCAAGTGGAACCACCTTGTCCACAAATTCGTCATT
GGCCACTTAAAGGGTGCCTCTGCCAACTGGTGGAATCATCGCCACTTCCAGCACCACGCC
AAGCCTAACATCTTCCACAAGGATCCCGATGTGAACATGCTGCACGTGTTTGTTCTGGGC
GAATGGCAGCCCATCGAGTACGGCAAGAAGAAGCTGAAATACCTGCCCTACAATCACCAG
CACGAATACTTCTTCCTGATTGGGCCGCCGCTGCTCATCCCCATGTATTTCCAGTACCAG
ATCATCATGACCATGATCGTCCATAAGAACTGGGTGGACCTGGCCTGGGCCGTCAGCTAC
TACATCCGGTTCTTCATCACCTACATCCCTTTCTACGGCATCCTGGGAGCCCTCCTTTTC
CTCAACTTCATCAGGTTCCTGGAGAGCCACTGGTTTGTGTGGGTCACACAGATGAATCAC
ATCGTCATGGAGATTGACCAGGAGGCCTACCGTGACTGGTTCAGTAGCCAGCTGACAGCC
ACCTGCAACGTGGAGCAGTCCTTCTTCAACGACTGGTTCAGTGGACACCTTAACTTCCAG
ATTGAGCACCACCTCTTCCCCACCATGCCCCGGCACAACTTACACAAGATCGCCCCGCTG
GTGAAGTCTCTATGTGCCAAGCATGGCATTGAATACCAGGAGAAGCCGCTACTGAGGGCC
CTGCTGGACATCATCAGGTCCCTGAAGAAGTCTGGGAAGCTGTGGCTGGACGCCTACCTT
CACAAATGA
GenBank Gene IDAF126799
GeneCard IDNot Available
GenAtlas IDFADS2
HGNC IDHGNC:3575
Chromosome Location11
Locus11q12-q13.1
References
  1. Cho HP, Nakamura MT, Clarke SD: Cloning, expression, and nutritional regulation of the mammalian Delta-6 desaturase. J Biol Chem. 1999 Jan 1;274(1):471-7. 9867867
  2. 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
  3. 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
  4. Otsuki T, Ota T, Nishikawa T, Hayashi K, Suzuki Y, Yamamoto J, Wakamatsu A, Kimura K, Sakamoto K, Hatano N, Kawai Y, Ishii S, Saito K, Kojima S, Sugiyama T, Ono T, Okano K, Yoshikawa Y, Aotsuka S, Sasaki N, Hattori A, Okumura K, Nagai K, Sugano S, Isogai T: Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. DNA Res. 2005;12(2):117-26. 16303743
  5. 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
  6. 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
  7. 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
  8. Nara TY, He WS, Tang C, Clarke SD, Nakamura MT: The E-box like sterol regulatory element mediates the suppression of human Delta-6 desaturase gene by highly unsaturated fatty acids. Biochem Biophys Res Commun. 2002 Aug 9;296(1):111-7. 12147235
  9. Ge L, Gordon JS, Hsuan C, Stenn K, Prouty SM: Identification of the delta-6 desaturase of human sebaceous glands: expression and enzyme activity. J Invest Dermatol. 2003 May;120(5):707-14. 12713571
  10. Tang C, Cho HP, Nakamura MT, Clarke SD: Regulation of human delta-6 desaturase gene transcription: identification of a functional direct repeat-1 element. J Lipid Res. 2003 Apr;44(4):686-95. Epub 2003 Jan 16. 12562861
  11. Lane J, Mansel RE, Jiang WG: Expression of human delta-6-desaturase is associated with aggressiveness of human breast cancer. Int J Mol Med. 2003 Aug;12(2):253-7. 12851727
  12. 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
  13. Vaca Jacome AS, Rabilloud T, Schaeffer-Reiss C, Rompais M, Ayoub D, Lane L, Bairoch A, Van Dorsselaer A, Carapito C: N-terminome analysis of the human mitochondrial proteome. Proteomics. 2015 Jul;15(14):2519-24. doi: 10.1002/pmic.201400617. Epub 2015 Jun 8. 25944712