KEGG   Homo sapiens (human): 8560
Entry
8560              CDS       T01001                                 
Symbol
DEGS1, DEGS, DEGS-1, DES1, Des-1, FADS7, HLD18, MIG15, MLD
Name
(RefSeq) delta 4-desaturase, sphingolipid 1
  KO
K04712  sphingolipid 4-desaturase/C4-monooxygenase [EC:1.14.19.17 1.14.18.5]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00600  Sphingolipid metabolism
hsa01100  Metabolic pathways
hsa04071  Sphingolipid signaling pathway
Module
hsa_M00094  Ceramide biosynthesis
hsa_M00099  Sphingosine biosynthesis
Disease
H00679  Hypomyelinating leukodystrophy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09103 Lipid metabolism
   00600 Sphingolipid metabolism
    8560 (DEGS1)
 09130 Environmental Information Processing
  09132 Signal transduction
   04071 Sphingolipid signaling pathway
    8560 (DEGS1)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01004 Lipid biosynthesis proteins [BR:hsa01004]
    8560 (DEGS1)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.14  Acting on paired donors, with incorporation or reduction of molecular oxygen
   1.14.18  With another compound as one donor, and incorporation of one atom of oxygen into the other donor
    1.14.18.5  sphingolipid C4-monooxygenase
     8560 (DEGS1)
   1.14.19  With oxidation of a pair of donors resulting in the reduction of O2 to two molecules of water
    1.14.19.17  sphingolipid 4-desaturase
     8560 (DEGS1)
Lipid biosynthesis proteins [BR:hsa01004]
 Desaturase
  Sphingolipid
   8560 (DEGS1)
SSDB
Motif
Pfam: FA_desaturase Lipid_DES
Other DBs
NCBI-GeneID: 8560
NCBI-ProteinID: NP_003667
OMIM: 615843
HGNC: 13709
Ensembl: ENSG00000143753
Pharos: O15121(Tbio)
UniProt: O15121
Position
1:224183240..224193441
AA seq 323 aa
MGSRVSREDFEWVYTDQPHADRRREILAKYPEIKSLMKPDPNLIWIIIMMVLTQLGAFYI
VKDLDWKWVIFGAYAFGSCINHSMTLAIHEIAHNAAFGNCKAMWNRWFGMFANLPIGIPY
SISFKRYHMDHHRYLGADGVDVDIPTDFEGWFFCTAFRKFIWVILQPLFYAFRPLFINPK
PITYLEVINTVAQVTFDILIYYFLGIKSLVYMLAASLLGLGLHPISGHFIAEHYMFLKGH
ETYSYYGPLNLLTFNVGYHNEHHDFPNIPGKSLPLVRKIAAEYYDNLPHYNSWIKVLYDF
VMDDTISPYSRMKRHQKGEMVLE
NT seq 972 nt   +upstreamnt  +downstreamnt
atggggagccgcgtctcgcgggaagacttcgagtgggtctacaccgaccagccgcacgcc
gaccggcgccgggagatcctggcaaagtatccagagataaagtccttgatgaaacctgat
cccaatttgatatggattataattatgatggttctcacccagttgggtgcattttacata
gtaaaagacttggactggaaatgggtcatatttggggcctatgcgtttggcagttgcatt
aaccactcaatgactctggctattcatgagattgcccacaatgctgcctttggcaactgc
aaagcaatgtggaatcgctggtttggaatgtttgctaatcttcctattgggattccatat
tcaatttcctttaagaggtatcacatggatcatcatcggtaccttggagctgatggcgtc
gatgtagatattcctaccgattttgagggctggttcttctgtaccgctttcagaaagttt
atatgggttattcttcagcctctcttttatgcctttcgacctctgttcatcaaccccaaa
ccaattacgtatctggaagttatcaataccgtggcacaggtcacttttgacattttaatt
tattactttttgggaattaaatccttagtctacatgttggcagcatctttacttggcctg
ggtttgcacccaatttctggacattttatagctgagcattacatgttcttaaagggtcat
gaaacttactcatattatgggcctctgaatttacttaccttcaatgtgggttatcataat
gaacatcatgatttccccaacattcctggaaaaagtcttccactggtgaggaaaatagca
gctgaatactatgacaacctccctcactacaattcctggataaaagtactgtatgatttt
gtgatggatgatacaataagtccctactcaagaatgaagaggcaccaaaaaggagagatg
gtgctggagtaa

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