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| !colspan="4"| Enzyme function in the Human Genome | | !colspan="4"| Enzyme function in the Human Genome |
| |- | | |- |
| ! Name | | ! Protein name |
| ! Human gene | | ! Gene name (Uniprot) |
| ! Location | | ! Location |
| ! | | ! |
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| | Low in all tissues for C14-C16 | | | Low in all tissues for C14-C16 |
| |- | | |- |
| |rowspan="2"|dihydroceramide Δ4-desaturase | | |rowspan="2"|Dihydroceramide Δ4-desaturase |
| | DES1 | | | DEGS1 (DES1) |
| | | | | 1q42.11 |
| | | | | |
| |- | | |- |
| | DES2 | | | DEGS2 (DES2) |
| | | | | |
| | The enzyme hydroxylates DES to form phytoceramide. | | | The enzyme hydroxylates DES to form phytoceramide. |
| |} | | |} |
Revision as of 07:48, 18 December 2017
serine + palmitoyl (16:0)-CoA
|
 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)
|
 DHCer desaturase
|
ceramide (Cer)
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Cytosolic surface of the endoplasmic reticulum (ER)
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[show]Enzyme function in the Human Genome
|
Protein name
|
Gene name (Uniprot)
|
Location
|
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serine palmitoyl transferase (SPT)
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SPTLC1 (SPT/LCB1-3)
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A heterodimer membrane protein (LC1-LC2 or LC1-LC3) whose catalytic site faces the cytosol. In addition, small subunits (ssSPTa or ssSPTb) are essential for the full enzymatic activity.
- SPTLC1-SPTLC2-ssSPTa ... C16-CoA
- SPTLC1-SPTLC3-ssSPTa ... C14- and C16-CoA
- SPTLC1-SPTLC2-ssSPTb ... C18-CoA
- SPTLC1-SPTLC3-ssSPTb ... broad specificity
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LPTLC2
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LPTLC3
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ssSPTa, ssSPTb (SPTSSa/b)
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3-ketodihydrosphingosine reductase
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KDSR / FVT1
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ceramide synthase
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CerS1 (LAG1 longevity assurance homolog 1)
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19q12
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Brain, skeletal muscle, testis for C18
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CerS2 (Tumor metastasis-suppressor gene 1)
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1q21.2
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Kidney, liver and other >12 organs for C20-C26
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CerS3
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15q26.3
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Skin, testis for C22-C26 α-hydroxy chains
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CerS4
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19q13.2
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Low in all tissues for C18-C22. Esp. skin, leucocytes, heart, liver.
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CerS5
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12q13.3
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Low in all tissues for C16. Esp. muscle and brain. Major in lung epithelia.
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CerS6
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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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DEGS2 (DES2)
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The enzyme hydroxylates DES to form phytoceramide.
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