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UniProt functional annotation for P35270 | ||
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| UniProt code: P35270. |
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| Organism: | |
Homo sapiens (Human). |
| Taxonomy: | |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. |
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| Function: | |
Catalyzes the final one or two reductions in tetra- hydrobiopterin biosynthesis to form 5,6,7,8-tetrahydrobiopterin. |
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| Catalytic activity: | |
Reaction=L-erythro-7,8-dihydrobiopterin + NADP(+) = H(+) + NADPH + sepiapterin; Xref=Rhea:RHEA:18953, ChEBI:CHEBI:15378, ChEBI:CHEBI:16095, ChEBI:CHEBI:43029, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.1.1.153; |
| Catalytic activity: | |
Reaction=(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin + 2 NADP(+) = 6- pyruvoyl-5,6,7,8-tetrahydropterin + 2 H(+) + 2 NADPH; Xref=Rhea:RHEA:32627, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:59560, ChEBI:CHEBI:136564; EC=1.1.1.153; |
| Biophysicochemical properties: | |
Kinetic parameters: KM=14.3 uM for sepiapterin {ECO:0000269|PubMed:11825621}; KM=10 uM for NADPH {ECO:0000269|PubMed:11825621}; |
| Subunit: | |
Homodimer. {ECO:0000269|Ref.13}. |
| Subcellular location: | |
Cytoplasm. |
| Ptm: | |
In vitro phosphorylation of Ser-213 by CaMK2 does not change kinetic parameters. {ECO:0000269|PubMed:11825621}. |
| Disease: | |
Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency (DRDSPRD) [MIM:612716]: A form of DOPA-responsive dystonia. In the majority of cases, patients manifest progressive psychomotor retardation, dystonia and spasticity. Cognitive anomalies are also often present. The disease is due to severe dopamine and serotonin deficiencies in the central nervous system caused by a defect in BH4 synthesis. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. {ECO:0000269|PubMed:11443547, ECO:0000269|PubMed:16650784, ECO:0000269|PubMed:17159114}. Note=The disease is caused by variants affecting the gene represented in this entry. |
| Similarity: | |
Belongs to the sepiapterin reductase family. {ECO:0000305}. |
Annotations taken from UniProtKB at the EBI.