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Identification
HMDB Protein ID HMDBP02649
Secondary Accession Numbers
  • 8149
  • HMDBP06680
Name Fatty acid desaturase 1
Synonyms
  1. D5D
  2. Delta(5) desaturase
  3. Delta(5) fatty acid desaturase
Gene Name FADS1
Protein Type Unknown
Biological Properties
General Function Involved in heme binding
Specific 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
Pathways
  • alpha-Linolenic acid metabolism
Reactions Not Available
GO Classification
Function
ion binding
cation binding
metal ion binding
binding
catalytic activity
transition metal ion binding
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
iron ion binding
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
heme binding
oxidoreductase activity
Process
metabolic process
primary metabolic process
cellular metabolic process
organic acid metabolic process
oxoacid metabolic process
carboxylic acid metabolic process
monocarboxylic acid metabolic process
fatty acid metabolic process
fatty acid biosynthetic process
oxidation reduction
lipid metabolic process
Cellular Location
  1. Multi-pass membrane protein (Potential)
  2. Endoplasmic reticulum membrane
Gene Properties
Chromosome Location Chromosome:1
Locus 11q12.2-q13.1
SNPs FADS1
Gene Sequence
>1335 bp
ATGGCCCCCGACCCGGTGGCCGCCGAGACCGCGGCTCAGGGACCTACCCCGCGCTACTTC
ACCTGGGACGAGGTGGCCCAGCGCTCAGGGTGCGAGGAGCGGTGGCTAGTGATCGACCGT
AAGGTGTACAACATCAGCGAGTTCACCCGCCGGCATCCAGGGGGCTCCCGGGTCATCAGC
CACTACGCCGGGCAGGATGCCACGGATCCCTTTGTGGCCTTCCACATCAACAAGGGCCTT
GTGAAGAAGTATATGAACTCTCTCCTGATTGGAGAACTGTCTCCAGAGCAGCCCAGCTTT
GAGCCCACCAAGAATAAAGAGCTGACAGATGAGTTCCGGGAGCTGCGGGCCACAGTGGAG
CGGATGGGGCTCATGAAGGCCAACCATGTCTTCTTCCTGCTGTACCTGCTGCACATCTTG
CTGCTGGATGGTGCAGCCTGGCTCACCCTTTGGGTCTTTGGGACGTCCTTTTTGCCCTTC
CTCCTCTGTGCGGTGCTGCTCAGTGCAGTTCAGGCCCAGGCTGGCTGGCTGCAGCATGAC
TTTGGGCACCTGTCGGTCTTCAGCACCTCAAAGTGGAACCATCTGCTACATCATTTTGTG
ATTGGCCACCTGAAGGGGGCCCCCGCCAGTTGGTGGAACCACATGCACTTCCAGCACCAT
GCCAAGCCCAACTGCTTCCGCAAAGACCCAGACATCAACATGCATCCCTTCTTCTTTGCC
TTGGGGAAGATCCTCTCTGTGGAGCTTGGGAAACAGAAGAAAAAATATATGCCGTACAAC
CACCAGCACAAATACTTCTTCCTAATTGGGCCCCCAGCCTTGCTGCCTCTCTACTTCCAG
TGGTATATTTTCTATTTTGTTATCCAGCGAAAGAAGTGGGTGGACTTGGCCTGGATGATT
ACCTTCTACGTCCGCTTCTTCCTCACTTATGTGCCACTATTGGGGCTGAAAGCCTTCCTG
GGCCTTTTCTTCATAGTCAGGTTCCTGGAAAGCAACTGGTTTGTGTGGGTGACACAGATG
AACCATATTCCCATGCACATTGATCATGACCGGAACATGGACTGGGTTTCCACCCAGCTC
CAGGCCACATGCAATGTCCACAAGTCTGCCTTCAATGACTGGTTCAGTGGACACCTCAAC
TTCCAGATTGAGCACCATCTTTTTCCCACGATGCCTCGACACAATTACCACAAAGTGGCT
CCCCTGGTGCAGTCCTTGTGTGCCAAGCATGGCATAGAGTACCAGTCCAAGCCCCTGCTG
TCAGCCTTCGCCGACATCATCCACTCACTAAAGGAGTCAGGGCAGCTCTGGCTAGATGCC
TATCTTCACCAATAA
Protein Properties
Number of Residues 444
Molecular Weight 51963.9
Theoretical pI 9.15
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • 122-142
  • 146-170
  • 268-288
  • 306-326
Protein Sequence
>Fatty acid desaturase 1
MAPDPVAAETAAQGPTPRYFTWDEVAQRSGCEERWLVIDRKVYNISEFTRRHPGGSRVIS
HYAGQDATDPFVAFHINKGLVKKYMNSLLIGELSPEQPSFEPTKNKELTDEFRELRATVE
RMGLMKANHVFFLLYLLHILLLDGAAWLTLWVFGTSFLPFLLCAVLLSAVQAQAGWLQHD
FGHLSVFSTSKWNHLLHHFVIGHLKGAPASWWNHMHFQHHAKPNCFRKDPDINMHPFFFA
LGKILSVELGKQKKKYMPYNHQHKYFFLIGPPALLPLYFQWYIFYFVIQRKKWVDLAWMI
TFYVRFFLTYVPLLGLKAFLGLFFIVRFLESNWFVWVTQMNHIPMHIDHDRNMDWVSTQL
QATCNVHKSAFNDWFSGHLNFQIEHHLFPTMPRHNYHKVAPLVQSLCAKHGIEYQSKPLL
SAFADIIHSLKESGQLWLDAYLHQ
GenBank ID Protein 3169158
UniProtKB/Swiss-Prot ID O60427
UniProtKB/Swiss-Prot Entry Name FADS1_HUMAN
PDB IDs Not Available
GenBank Gene ID AC004770
GeneCard ID FADS1
GenAtlas ID FADS1
HGNC ID HGNC:3574
References
General References
  1. 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. [PubMed:14702039 ]
  2. 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. [PubMed:15489334 ]
  3. 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. [PubMed:17974005 ]
  4. 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. [PubMed:16554811 ]
  5. 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. [PubMed:10601301 ]
  6. 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. [PubMed:10769175 ]
  7. 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. [PubMed:10860662 ]