InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SPR

Summary

InnateDB Protein

IDBP-56212.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SPR

Protein Name

sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)

Synonyms

SDR38C1;

Species

Homo sapiens

Ensembl Protein

ENSP00000234454

InnateDB Gene

IDBG-56210 (SPR)

Protein Structure

UniProt Annotation

Function

Catalyzes the final one or two reductions in tetra- hydrobiopterin biosynthesis to form 5,6,7,8-tetrahydrobiopterin.

Subcellular Localization

Cytoplasm.

Disease Associations

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:0000269PubMed:11443547, ECO:0000269PubMed:16650784, ECO:0000269PubMed:17159114}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.

Experimentally validated
Total	15 [view]
Protein-Protein	15 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004033	aldo-keto reductase (NADP) activity
GO:0004757	sepiapterin reductase activity
GO:0016491	oxidoreductase activity
GO:0050661	NADP binding

Biological Process

GO:0006558	L-phenylalanine metabolic process
GO:0006729	tetrahydrobiopterin biosynthetic process
GO:0006809	nitric oxide biosynthetic process
GO:0008152	metabolic process
GO:0016265	death
GO:0019889	pteridine metabolic process
GO:0040014	regulation of multicellular organism growth
GO:0042415	norepinephrine metabolic process
GO:0042417	dopamine metabolic process
GO:0042428	serotonin metabolic process
GO:0044281	small molecule metabolic process
GO:0046146	tetrahydrobiopterin metabolic process
GO:0046209	nitric oxide metabolic process
GO:0048667	cell morphogenesis involved in neuron differentiation
GO:0050882	voluntary musculoskeletal movement
GO:0050999	regulation of nitric-oxide synthase activity
GO:0055114	oxidation-reduction process

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005739	mitochondrion
GO:0005829	cytosol
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR002198 Short-chain dehydrogenase/reductase SDR
IPR002347 Glucose/ribitol dehydrogenase
IPR006393 Sepiapterin reductase
IPR013968 Polyketide synthase, KR

PFAM

PF00106
PF08659

PRINTS

PR00080
PR00081

PIRSF

PIRSF000126

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt