KDSR Gene Summary [Human]
The protein encoded by this gene catalyzes the reduction of 3-ketodihydrosphingosine to dihydrosphingosine. The putative active site residues of the encoded protein are found on the cytosolic side of the endoplasmic reticulum membrane. A chromosomal rearrangement involving this gene is a cause of follicular lymphoma, also known as type II chronic lymphatic leukemia. The mutation of a conserved residue in the bovine ortholog causes spinal muscular atrophy. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | KDSR |
| Official Name | 3-ketodihydrosphingosine reductase [Source:HGNC Symbol;Acc:HGNC:4021] |
| Ensembl ID | ENSG00000119537 |
| Bio databases IDs | |
| Aliases | 3-ketodihydrosphingosine reductase, 3-dehydrosphinganine reductase, short chain dehydrogenase/reductase family 35C, member 1 |
| Synonyms | 3-ketodihydrosphingosine reductase, 6330410P18RIK, 9430079B08Rik, DHSR, EKVP4, FVT1, SDR35C1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human KDSR often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- polyketide synthase keto reductase domain
- Rossmann-fold NAD(P)(+)-binding proteins
- NADPH binding
- sepiapterin reductase
- KR domain
- enzyme
- protein binding
- short chain dehydrogenase
- 3-dehydrosphinganine reductase
Pathways
Biological processes and signaling networks where the KDSR gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- prostatic carcinoma
- prostate cancer
- erythrokeratodermia variabilis et progressiva 4
- melanoma
- melanoma cancer
- schizophrenia
- allergic rhinitis
- global developmental delay with intellectual disability
- acute graft-vs-host disease
regulates
- sphingolipid
- 3-ketodihydrosphingosine
- D-erythro-dihydrosphingosine
- omega-O-acylceramide
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- Extracellular Space
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KDSR gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- 3-keto-sphinganine metabolic process
- sphingolipid biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- extracellular space
- membrane
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- 3-dehydrosphinganine reductase activity
- protein binding
- NADPH binding