Gene
kdsr
- ID
- ZDB-GENE-040426-853
- Name
- 3-ketodihydrosphingosine reductase
- Symbol
- kdsr Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to have 3-dehydrosphinganine reductase activity. Predicted to be involved in 3-keto-sphinganine metabolic process and sphingolipid biosynthetic process. Predicted to localize to endoplasmic reticulum and endoplasmic reticulum membrane. Used to study liver disease and thrombocytopenia. Human ortholog(s) of this gene implicated in erythrokeratodermia variabilis et progressiva 4 and follicular lymphoma. Orthologous to human KDSR (3-ketodihydrosphingosine reductase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:55947 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 12 figures from 3 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| erythrokeratodermia variabilis et progressiva 4 | Alliance | Erythrokeratodermia variabilis et progressiva 4 | 617526 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| thrombocytopenia | la2Tg + MO1-kdsr | standard conditions | Bariana et al., 2018 |
| liver disease | kdsrmuz106/muz106 (AB/TU) | standard conditions | Park et al., 2019 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | 3-ketodihydrosphingosine reductase KDSR-like | NAD(P)-binding domain superfamily | Short-chain dehydrogenase/reductase SDR |
|---|---|---|---|---|
|
UniProtKB:F1QWW8
|
359 |
Interactions and Pathways
No data available
Plasmids
No data available