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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
3-ketodihydrosphingosine reductase
Summary
- UniProt ID
- Q06136
- Gene Symbol
-
- KDSR
- FVT1
- SDR35C1
- Organism
- Homo sapiens (human)
External Links
- GlyGen
- Q06136
- PubChem
- Q06136
- SwissLipids
- The Human Metabolome Database
- HMDBP03056
- The O-GlcNAc Database
- Q06136
Annotation
- Keyword
-
- Alternative splicing
- Chromosomal rearrangement
- Disease variant
- Endoplasmic reticulum
- NADP
- Nucleotide-binding
- Oxidoreductase
- Palmoplantar keratoderma
- Proto-oncogene
- Reference proteome
- Signal
- Sphingolipid metabolism
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| sphingolipid biosynthetic process |
| 3-keto-sphinganine metabolic process |
| GO Term |
|---|
| extracellular space |
| membrane |
| endoplasmic reticulum |
| endoplasmic reticulum membrane |
| GO Term |
|---|
| 3-dehydrosphinganine reductase activity |
Sequence
MLLLAAAFLVAFVLLLYMVSPLISPKPLALPGAHVVVTGGSSGIGKCIAIECYKQGAFITLVARNEDKLLQAKKEIEMHSINDKQVVLCISVDVSQDYNQVENVIKQAQEKLGPVDMLVNCAGMAVSGKFEDLEVSTFERLMSINYLGSVYPSRAVITTMKERRVGRIVFVSSQAGQLGLFGFTAYSASKFAIRGLAEALQMEVKPYNVYITVAYPPDTDTPGFAEENRTKPLETRLISETTSVCKPEQVAKQIVKDAIQGNFNSSLGSDGYMLSALTCGMAPVTSITEGLQQVVTMGLFRTIALFYLGSFDSIVRRCMMQREKSENADKTA
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 212 |
|
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Sphingolipid de novo biosynthesis | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:1059 | intellectual disability | |
| DOID:10907 | microcephaly | |
| DOID:11541 | recurrent corneal erosion | |
| DOID:12377 | spinal muscular atrophy | |
| DOID:1588 | thrombocytopenia | |
| DOID:162 | cancer | |
| DOID:1686 | glaucoma | |
| DOID:1837 | diabetic ketoacidosis | |
| DOID:2218 | blood platelet disease | |
| DOID:3159 | photosensitivity disease |
