SPR
entrez
6697
canonical
uniprot
P35270
canonical
ensembl
ENSG00000116096
resolver
ensp
ENSP00000234454
resolver
enst
ENST00000234454
resolver
genesymbol
SPR
resolver
hgnc
HGNC:11257
resolver
uniprot
A8K741
resolver
uniprot
D6W5H2
resolver
uniprot
Q53GI9
resolver
uniprot
Q9UBB1
resolver
uniprot_entry
SPRE_HUMAN
resolver
uniprot_sec
A8K741
resolver
uniprot_sec
D6W5H2
resolver
uniprot_sec
Q53GI9
resolver
uniprot_sec
Q9UBB1
resolver
amino_acid_sequence
MEGGLGRAVCLLTGASRGFGRTLAPLLASLLSPGSVLVLSARNDEALRQLEAELGAERSGLRVVRVPADLGAEAGLQQLLGALRELPRPKGLQRLLLINNAGSLGDVSKGFVDLSDSTQVNNYWALNLTSMLCLTSSVLKAFPDSPGLNRTVVNISSLCALQPFKGWALYCAGKAARDMLFQVLALEEPNVRVLNYAPGPLDTDMQQLARETSVDPDMRKGLQELKAKGKLVDCKVSAQKLLSLLEKDEFKSGAHVDFYDK
uniprot
proteins
disease_involvement
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.
uniprot
proteins
ec_number
1.1.1.153
uniprot
proteins
function
FUNCTION: Catalyzes the final one or two reductions in tetra-hydrobiopterin biosynthesis to form 5,6,7,8-tetrahydrobiopterin.
uniprot
proteins
mass_dalton
28048
uniprot
proteins
mutagenesis
MUTAGEN 213; /note="S->A: Abolishes phosphorylation by CaMK2. No effect on kinetic parameters."; /evidence="ECO:0000269|PubMed:11825621
uniprot
proteins
post_translational_modification
PTM: In vitro phosphorylation of Ser-213 by CaMK2 does not change kinetic parameters. {ECO:0000269|PubMed:11825621}.
uniprot
proteins
protein_family
Sepiapterin reductase family
uniprot
proteins
pubmed
10350607
uniprot
proteins
pubmed
11443547
uniprot
proteins
pubmed
11825621
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16650784
uniprot
proteins
pubmed
17159114
uniprot
proteins
pubmed
1883349
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
8440319
uniprot
proteins
pubmed
9792819
uniprot
proteins
sequence_length
261
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm.
uniprot
proteins