• Gene id: 6697

Gene Summary

• Gene Symbol: SPR   Gene   UCSC   Ensembl
• Aliases: SDR38C1
• Gene name: sepiapterin reductase
• Alternate names: sepiapterin reductase, Sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming), sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase), short chain dehydrogenase/reductase family 38C, member 1,
• Gene location: 2p13.2 (72887407: 72892157)     Exons: 3     NC_000002.12
• Gene summary(Entrez): 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 r
• OMIM: 182125

Protein Summary

• Protein general information: P35270  
  • Name: Sepiapterin reductase (SPR) (EC 1.1.1.153)
  • Length: 261  
  • Mass: 28048
• Sequence:

  MEGGLGRAVCLLTGASRGFGRTLAPLLASLLSPGSVLVLSARNDEALRQLEAELGAERSGLRVVRVPADLGAEAG
  LQQLLGALRELPRPKGLQRLLLINNAGSLGDVSKGFVDLSDSTQVNNYWALNLTSMLCLTSSVLKAFPDSPGLNR
  TVVNISSLCALQPFKGWALYCAGKAARDMLFQVLALEEPNVRVLNYAPGPLDTDMQQLARETSVDPDMRKGLQEL
  KAKGKLVDCKVSAQKLLSLLEKDEFKSGAHVDFYDK

• Structural information:
  • Interpro: IPR036291  IPR002347  IPR006393  
  • PDB: 1Z6Z 4HWK 4J7U 4J7X 4XWY 4Z3K 6I6C 6I6F 6I6P 6I6T 6I6V 6I79 6USN
  • PDBsum: 1Z6Z 4HWK 4J7U 4J7X 4XWY 4Z3K 6I6C 6I6F 6I6P 6I6T 6I6V 6I79 6USN
  • STRING: ENSP00000234454
• Other Databases: GeneCards:  SPR  Malacards:  SPR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006729	tetrahydrobiopterin biosynthetic process	IBA	biological process
GO:0004757	sepiapterin reductase activity	IBA	molecular function
GO:0004757	sepiapterin reductase activity	ISS	molecular function
GO:0006729	tetrahydrobiopterin biosynthetic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0004757	sepiapterin reductase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0004757	sepiapterin reductase activity	TAS	molecular function
GO:0004757	sepiapterin reductase activity	IEA	molecular function
GO:0050999	regulation of nitric-oxide synthase activity	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006809	nitric oxide biosynthetic process	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0055114	oxidation-reduction process	TAS	biological process
GO:0050661	NADP binding	TAS	molecular function
GO:0006729	tetrahydrobiopterin biosynthetic process	TAS	biological process
GO:0004033	aldo-keto reductase (NADP) activity	TAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00790	Folate biosynthesis

Diseases

Associated diseases	References
Primary dystonia	KEGG:H00831
Primary dystonia	KEGG:H00831
Dystonia	PMID:11443547
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)