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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Sphingolipid delta(4)-desaturase DES1
Summary
- UniProt ID
- O15121
- Gene Symbol
-
- DEGS1
- DES1
- MLD
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Disease variant
- Endoplasmic reticulum
- Fatty acid biosynthesis
- Isomerase
- Leukodystrophy
- Mitochondrion
- Myristate
- Oxidoreductase
- Phosphoprotein
- Reference proteome
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| sphingolipid biosynthetic process |
| myelin maintenance |
| ceramide biosynthetic process |
| unsaturated fatty acid biosynthetic process |
| GO Term |
|---|
| plasma membrane |
| membrane |
| mitochondrion |
| mitochondrial membrane |
| endoplasmic reticulum |
| endoplasmic reticulum membrane |
| specific granule membrane |
| GO Term |
|---|
| retinol isomerase activity |
| electron transfer activity |
| sphingolipid delta-4 desaturase activity |
Sequence
MGSRVSREDFEWVYTDQPHADRRREILAKYPEIKSLMKPDPNLIWIIIMMVLTQLGAFYIVKDLDWKWVIFGAYAFGSCINHSMTLAIHEIAHNAAFGNCKAMWNRWFGMFANLPIGIPYSISFKRYHMDHHRYLGADGVDVDIPTDFEGWFFCTAFRKFIWVILQPLFYAFRPLFINPKPITYLEVINTVAQVTFDILIYYFLGIKSLVYMLAASLLGLGLHPISGHFIAEHYMFLKGHETYSYYGPLNLLTFNVGYHNEHHDFPNIPGKSLPLVRKIAAEYYDNLPHYNSWIKVLYDFVMDDTISPYSRMKRHQKGEMVLE
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
|
|
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Neutrophil degranulation | Homo sapiens |
| Sphingolipid de novo biosynthesis | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:13174 | dissociated nystagmus | |
| DOID:13533 | osteopetrosis | |
| DOID:1389 | polyneuropathy | |
| DOID:13976 | peptic esophagitis | |
| DOID:14402 | critical illness polyneuropathy | |
| DOID:1443 | cerebral degeneration | |
| DOID:14525 | Reye syndrome | |
| DOID:1470 | major depressive disorder | |
| DOID:150 | disease of mental health | |
| DOID:1595 | melancholic depression |
