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| | [http://www.uniprot.org/uniprot/Q6QHC5 DEGS2](DES2) | | | [http://www.uniprot.org/uniprot/Q6QHC5 DEGS2](DES2) |
| | 14q32.2 | | | 14q32.2 |
| | |- |
| | |colspan="4"|<references/> |
| |} | | |} |
Revision as of 13:19, 18 December 2017
serine
+
palmitoyl (16:0)-CoA
|
serine palmitoyl
transferase
|
3-ketodihydro-
sphingosine
(3-KDS)
|
3-KDS
reductase
|
dihydrosphingosine
(DHS, d18:0)
|
Cer synthase
fatty acyl CoA
|
dihydroceramide
(DHCer)
|
DHCer
desaturase
|
ceramide
(Cer)
|
| Cytosolic surface of the endoplasmic reticulum (ER)
|
| [show]Enzyme function in the Human Genome
|
| Protein name
|
Gene name (Uniprot)
|
Location
|
|
| Serine palmitoyl transferase (SPT)
|
SPTLC1(LCB1)
|
9q22.31
|
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
|
SPTLC2
(LCB2,LCB2A)
|
14q24.3
|
| SPTLC3(LCB2B)
|
20p12.1
|
| SPTSSA(ssSPTa)
|
14q13.1
|
| SPTSSB(ssSPTb)
|
3q26.1
|
| 3-Ketodihydrosphingosine reductase
|
KDSR(FVT1)
|
18q21.33
|
|
| Ceramide synthase
|
CERS1
(LASS1,LAG1)
|
19p13.11
|
Brain, skeletal muscle, testis for C18
|
CERS2
(LASS2,TMSG1)
|
1q21.3
|
Kidney, liver and other >12 organs for C20-C26
|
| CERS3(LASS3)
|
15q26.3
|
Skin, testis for C22-C26 α-hydroxy chains
|
| CERS4(LASS4)
|
19p13.2
|
Low in all tissues for C18-C22. Esp. skin, leucocytes, heart, liver.
|
| CERS5(LASS5)
|
12q13.12
|
Low in all tissues for C16. Esp. muscle and brain. Major in lung epithelia.
|
| CERS6(LASS6)
|
2q24.3
|
Low in all tissues for C14-C16
|
| Dihydroceramide Δ4-desaturase
|
DEGS1(DES1)
|
1q42.11
|
The enzyme hydroxylates DES to form phytoceramide.[1]
|
| DEGS2(DES2)
|
14q32.2
|
- ↑ 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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