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| | [http://www.uniprot.org/uniprot/O15121 DEGS1](DES1) | | | [http://www.uniprot.org/uniprot/O15121 DEGS1](DES1) |
| | 1q42.11 | | | 1q42.11 |
| | | | |rowspan="2"| The enzyme hydroxylates DES to form phytoceramide.<ref>Michel C, van Echten-Deckert G. (1997) "Conversion of dihydroceramide to ceramide occurs at the cytosolic face of the endoplasmic reticulum" FEBS Lett 416(2):153-155 </ref> |
| |- | | |- |
| | [http://www.uniprot.org/uniprot/Q6QHC5 DEGS2](DES2) | | | [http://www.uniprot.org/uniprot/Q6QHC5 DEGS2](DES2) |
| | 14q32.2 | | | 14q32.2 |
| | The enzyme hydroxylates DES to form phytoceramide.
| |
| |} | | |} |
Revision as of 13:18, 18 December 2017
serine + palmitoyl (16:0)-CoA
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 serine palmitoyl transferase
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3-ketodihydro- sphingosine (3-KDS)
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 3-KDS reductase
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dihydrosphingosine (DHS, d18:0)
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Cer synthase
 fatty acyl CoA
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dihydroceramide (DHCer)
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 DHCer desaturase
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ceramide (Cer)
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Cytosolic surface of the endoplasmic reticulum (ER)
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[show]Enzyme function in the Human Genome
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Protein name
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Gene name (Uniprot)
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Location
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Serine palmitoyl transferase (SPT)
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SPTLC1(LCB1)
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9q22.31
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A heterodimer membrane protein (LC1-LC2 or LC1-LC3) whose catalytic site faces the cytosol. In addition, small subunits (SPTSSA or SPTSSB) are essential for the full enzymatic activity.
- SPTLC1-SPTLC2-SPTSSA ... C16-CoA
- SPTLC1-SPTLC3-SPTSSA ... C14- and C16-CoA
- SPTLC1-SPTLC2-SPTSSB ... C18-CoA
- SPTLC1-SPTLC3-SPTSSB ... broad specificity
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SPTLC2 (LCB2,LCB2A)
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14q24.3
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SPTLC3(LCB2B)
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20p12.1
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SPTSSA(ssSPTa)
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14q13.1
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SPTSSB(ssSPTb)
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3q26.1
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3-Ketodihydrosphingosine reductase
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KDSR(FVT1)
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18q21.33
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Ceramide synthase
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CERS1 (LASS1,LAG1)
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19p13.11
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Brain, skeletal muscle, testis for C18
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CERS2 (LASS2,TMSG1)
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1q21.3
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Kidney, liver and other >12 organs for C20-C26
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CERS3(LASS3)
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15q26.3
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Skin, testis for C22-C26 α-hydroxy chains
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CERS4(LASS4)
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19p13.2
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Low in all tissues for C18-C22. Esp. skin, leucocytes, heart, liver.
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CERS5(LASS5)
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12q13.12
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Low in all tissues for C16. Esp. muscle and brain. Major in lung epithelia.
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CERS6(LASS6)
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2q24.3
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Low in all tissues for C14-C16
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Dihydroceramide Δ4-desaturase
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DEGS1(DES1)
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1q42.11
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The enzyme hydroxylates DES to form phytoceramide.[1]
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DEGS2(DES2)
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14q32.2
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- ↑ Michel C, van Echten-Deckert G. (1997) "Conversion of dihydroceramide to ceramide occurs at the cytosolic face of the endoplasmic reticulum" FEBS Lett 416(2):153-155
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