InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: SPR

Summary

InnateDB Gene

IDBG-56210.6

Last Modified

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

Gene Symbol

SPR

Gene Name

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

Synonyms

SDR38C1

Species

Homo sapiens

Ensembl Gene

ENSG00000116096

Encoded Proteins

IDBP-56212

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

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 2:72887360-72892158

Strand

Forward strand

Band

p13.2

Transcripts

ENST00000234454	ENSP00000234454
ENST00000498749

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

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000033735

View Gene Order

ENSBTAG00000021961

Not yet available

Pathways

NETPATH

REACTOME

REACT_111176

Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation pathway

REACT_12389

eNOS activation and regulation pathway

REACT_12508

Metabolism of nitric oxide pathway

REACT_111217

Metabolism pathway

KEGG

hsa00790

Folate biosynthesis pathway

INOH

INOH website

Folate metabolism pathway

PID NCI

Cross-References

SwissProt

P35270

TrEMBL

Q93041 Q9UEC5

UniProt Splice Variant

Entrez Gene

6697

UniGene

Hs.301540

RefSeq

NM_003124

HUGO

HGNC:11257

OMIM

182125

CCDS

CCDS1920

HPRD

IMGT

EMBL

AB017547 AB017548 AC012366 AC092630 AK222942 AK291856 BC017310 CH471053 M76231 S71376

GenPept

AAA60314 AAD14079 AAH17310 AAY14743 AAY15035 BAA34534 BAA34535 BAD96662 BAF84545 EAW99757 EAW99758

RNA Seq Atlas

6697