SPR Gene Summary [Human]
This gene encodes an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and is important in the biosynthesis of tetrahydrobiopterin (BH4). Mutations in this gene result in DOPA-responsive dystonia due to sepiaterin reductase deficiency. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | SPR |
| Official Name | sepiapterin reductase [Source:HGNC Symbol;Acc:HGNC:11257] |
| Ensembl ID | ENSG00000116096 |
| Bio databases IDs | |
| Aliases | sepiapterin reductase, short chain dehydrogenase/reductase family 38C, member 1, Sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming) |
| Synonyms | Gm10328, SDR38C1, SEPIAPTERIN REDUCTASE |
| 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 SPR often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Rossmann-fold NAD(P)(+)-binding proteins
- sepiapterin reductase
- NADP binding
- aldo-keto reductase
- 3-oxoacyl-(acyl-carrier-protein) reductase
- pteridine reductase
- protein homodimerization
- enzyme
- Enoyl-(Acyl carrier protein) reductase
- short chain dehydrogenase
Pathways
Biological processes and signaling networks where the SPR 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
- sepiapterin reductase deficiency
- dystonia
- mental retardation
- growth failure
- azoxymethane/dextran sodium sulfate induced colorectal cancer
- bradykinesia
- hereditary disorder
- tremor
- motor dysfunction
regulates
- MTORC1
- nitric oxide
- 3,4-dihydroxyphenylacetic acid
- L-tyrosine
- L-phenylalanine
- sapropterin
- 5-hydroxytryptamine
- neurotransmitter
- dopamine
- biopterin
role in cell
- proliferation
- morphogenesis
- abnormal morphology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SPR gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- tetrahydrobiopterin biosynthetic process
- nitric oxide biosynthetic process
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- NADP binding
- sepiapterin reductase activity
- aldo-keto reductase (NADP) activity