Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6697
Gene name	Sepiapterin reductase
Gene symbol	SPR
Synonyms (NCBI Gene)	SDR38C1
Chromosome	2
Chromosome location	2p13.2
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 r

Show/Hide all (16)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893665	A>G	Pathogenic	Coding sequence variant, missense variant
rs104893666	C>T	Pathogenic	Coding sequence variant, missense variant
rs121917746	C>T	Pathogenic	Stop gained, coding sequence variant
rs121917747	A>T	Pathogenic	Stop gained, coding sequence variant
rs146349901	C>G,T	Likely-benign, pathogenic, uncertain-significance	Coding sequence variant, synonymous variant, stop gained
rs200845457	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs387907200	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs398122922	A>G	Pathogenic	Splice acceptor variant
rs587776777	AGAAC>-	Pathogenic	Coding sequence variant, frameshift variant
rs779204655	C>T	Pathogenic	Coding sequence variant, stop gained
rs1453510719	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1553498582	G>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs1553498611	ATAA>-	Likely-pathogenic	Frameshift variant, terminator codon variant
rs1573881742	->GGGCGGGCTG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1573882268	A>G	Pathogenic	Splice acceptor variant
rs1573882444	G>T	Likely-pathogenic	Coding sequence variant, stop gained

103

Show/Hide all (103)

miRTarBase ID	miRNA	Experiments	Reference
MIRT032464	hsa-let-7b-5p	Proteomics	18668040
MIRT1385586	hsa-miR-1207-5p	CLIP-seq
MIRT1385587	hsa-miR-1236	CLIP-seq
MIRT1385588	hsa-miR-124	CLIP-seq
MIRT1385589	hsa-miR-1286	CLIP-seq
MIRT1385590	hsa-miR-214	CLIP-seq
MIRT1385591	hsa-miR-3182	CLIP-seq
MIRT1385592	hsa-miR-3616-3p	CLIP-seq
MIRT1385593	hsa-miR-3619-5p	CLIP-seq
MIRT1385594	hsa-miR-3714	CLIP-seq
MIRT1385595	hsa-miR-3910	CLIP-seq
MIRT1385596	hsa-miR-4267	CLIP-seq
MIRT1385597	hsa-miR-4436b-3p	CLIP-seq
MIRT1385598	hsa-miR-4690-5p	CLIP-seq
MIRT1385599	hsa-miR-4721	CLIP-seq
MIRT1385600	hsa-miR-4763-3p	CLIP-seq
MIRT1385601	hsa-miR-506	CLIP-seq
MIRT1385602	hsa-miR-549	CLIP-seq
MIRT1385603	hsa-miR-761	CLIP-seq
MIRT1385604	hsa-miR-940	CLIP-seq
MIRT2115397	hsa-miR-1252	CLIP-seq
MIRT2115398	hsa-miR-1273d	CLIP-seq
MIRT2115399	hsa-miR-1275	CLIP-seq
MIRT2115400	hsa-miR-1293	CLIP-seq
MIRT2115401	hsa-miR-1302	CLIP-seq
MIRT2115402	hsa-miR-150	CLIP-seq
MIRT2115403	hsa-miR-1587	CLIP-seq
MIRT2115404	hsa-miR-1913	CLIP-seq
MIRT2115405	hsa-miR-1915	CLIP-seq
MIRT2115406	hsa-miR-299-3p	CLIP-seq
MIRT2115407	hsa-miR-3127-3p	CLIP-seq
MIRT2115408	hsa-miR-324-3p	CLIP-seq
MIRT2115409	hsa-miR-346	CLIP-seq
MIRT2115410	hsa-miR-3529	CLIP-seq
MIRT2115411	hsa-miR-3667-3p	CLIP-seq
MIRT2115412	hsa-miR-379	CLIP-seq
MIRT2115413	hsa-miR-3913-3p	CLIP-seq
MIRT2115414	hsa-miR-4265	CLIP-seq
MIRT2115415	hsa-miR-4296	CLIP-seq
MIRT2115416	hsa-miR-4298	CLIP-seq
MIRT2115417	hsa-miR-4322	CLIP-seq
MIRT2115418	hsa-miR-4417	CLIP-seq
MIRT2115419	hsa-miR-4428	CLIP-seq
MIRT2115420	hsa-miR-4451	CLIP-seq
MIRT2115421	hsa-miR-4476	CLIP-seq
MIRT2115422	hsa-miR-4483	CLIP-seq
MIRT2115423	hsa-miR-4491	CLIP-seq
MIRT2115424	hsa-miR-4492	CLIP-seq
MIRT2115425	hsa-miR-4498	CLIP-seq
MIRT2115426	hsa-miR-4505	CLIP-seq
MIRT2115427	hsa-miR-4525	CLIP-seq
MIRT2115428	hsa-miR-4533	CLIP-seq
MIRT2115429	hsa-miR-4536	CLIP-seq
MIRT2115430	hsa-miR-4650-3p	CLIP-seq
MIRT2115431	hsa-miR-4651	CLIP-seq
MIRT2115432	hsa-miR-4656	CLIP-seq
MIRT2115433	hsa-miR-4657	CLIP-seq
MIRT2115434	hsa-miR-4665-5p	CLIP-seq
MIRT2115435	hsa-miR-4675	CLIP-seq
MIRT2115436	hsa-miR-4688	CLIP-seq
MIRT2115437	hsa-miR-4691-5p	CLIP-seq
MIRT2115438	hsa-miR-4713-5p	CLIP-seq
MIRT2115439	hsa-miR-4723-5p	CLIP-seq
MIRT2115440	hsa-miR-4728-5p	CLIP-seq
MIRT2115441	hsa-miR-4741	CLIP-seq
MIRT2115442	hsa-miR-532-3p	CLIP-seq
MIRT2115443	hsa-miR-545	CLIP-seq
MIRT2115444	hsa-miR-608	CLIP-seq
MIRT2115445	hsa-miR-625	CLIP-seq
MIRT2115446	hsa-miR-637	CLIP-seq
MIRT2115447	hsa-miR-661	CLIP-seq
MIRT2115448	hsa-miR-759	CLIP-seq
MIRT2115449	hsa-miR-762	CLIP-seq
MIRT2115450	hsa-miR-938	CLIP-seq
MIRT2338094	hsa-miR-1225-3p	CLIP-seq
MIRT2115399	hsa-miR-1275	CLIP-seq
MIRT2115400	hsa-miR-1293	CLIP-seq
MIRT2338095	hsa-miR-1343	CLIP-seq
MIRT2115402	hsa-miR-150	CLIP-seq
MIRT2115407	hsa-miR-3127-3p	CLIP-seq
MIRT2338096	hsa-miR-3168	CLIP-seq
MIRT2115410	hsa-miR-3529	CLIP-seq
MIRT2115412	hsa-miR-379	CLIP-seq
MIRT2338097	hsa-miR-3976	CLIP-seq
MIRT2338098	hsa-miR-4450	CLIP-seq
MIRT2115420	hsa-miR-4451	CLIP-seq
MIRT2115422	hsa-miR-4483	CLIP-seq
MIRT2115427	hsa-miR-4525	CLIP-seq
MIRT2115429	hsa-miR-4536	CLIP-seq
MIRT2115430	hsa-miR-4650-3p	CLIP-seq
MIRT2115431	hsa-miR-4651	CLIP-seq
MIRT2115434	hsa-miR-4665-5p	CLIP-seq
MIRT2338099	hsa-miR-4667-5p	CLIP-seq
MIRT2338100	hsa-miR-4700-5p	CLIP-seq
MIRT2115438	hsa-miR-4713-5p	CLIP-seq
MIRT2115439	hsa-miR-4723-5p	CLIP-seq
MIRT2115440	hsa-miR-4728-5p	CLIP-seq
MIRT2115442	hsa-miR-532-3p	CLIP-seq
MIRT2115444	hsa-miR-608	CLIP-seq
MIRT2115445	hsa-miR-625	CLIP-seq
MIRT2115446	hsa-miR-637	CLIP-seq
MIRT2115447	hsa-miR-661	CLIP-seq
MIRT2338101	hsa-miR-665	CLIP-seq

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004757	Function	Sepiapterin reductase (NADP+) activity	IBA
GO:0004757	Function	Sepiapterin reductase (NADP+) activity	IEA
GO:0004757	Function	Sepiapterin reductase (NADP+) activity	ISS
GO:0004757	Function	Sepiapterin reductase (NADP+) activity	TAS	9792819
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006729	Process	Tetrahydrobiopterin biosynthetic process	IBA
GO:0006729	Process	Tetrahydrobiopterin biosynthetic process	IEA
GO:0006729	Process	Tetrahydrobiopterin biosynthetic process	TAS	1883349
GO:0006809	Process	Nitric oxide biosynthetic process	IDA	15197144
GO:0008106	Function	Alcohol dehydrogenase (NADP+) activity	TAS	1883349
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0050661	Function	NADP binding	TAS	1883349
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145

MIM	HGNC	e!Ensembl
182125	11257	ENSG00000116096

P35270

Protein name

Sepiapterin reductase (SPR) (EC 1.1.1.153)

Protein function

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

PDB

1Z6Z , 4HWK , 4J7U , 4J7X , 4XWY , 4Z3K , 6I6C , 6I6F , 6I6P , 6I6T , 6I6V , 6I79 , 6USN , 7DSF

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00106	adh_short	8 → 214	short chain dehydrogenase	Domain

Sequence

MEGGLGRAVCLLTGASRGFGRTLAPLLASLLSPGSVLVLSARNDEALRQLEAELGAERSG
LRVVRVPADLGAEAGLQQLLGALRELPRPKGLQRLLLINNAGSLGDVSKGFVDLSDSTQV
NNYWALNLTSMLCLTSSVLKAFPDSPGLNRTVVNISSLCALQPFKGWALYCAGKAARDML
FQVLALEEPNVRVLNYAPGPLDTDMQQLARETSVDPDMRKGLQELKAKGKLVDCKVSAQK
LLSLLEKDEFKSGAHVDFYDK

Sequence length

261

Interactions

View interactions

	KEGG		Reactome
	Folate biosynthesis Metabolic pathways Biosynthesis of cofactors		Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation eNOS activation

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Dopa-responsive dystonia due to sepiapterin reductase deficiency	Pathogenic; Likely pathogenic	rs1670562900, rs1670576656, rs2105241166, rs758245029, rs779204655, rs2528319905, rs1670577442, rs121917746, rs587776777, rs104893665, rs104893666, rs121917747, rs761407827, rs387907200, rs398122922, rs1553498582, rs1573881742 View all (2 more)	RCV001507315 RCV001507316 RCV001785021 RCV002295372 RCV000662027 View all (13 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dystonic disorder	Likely pathogenic; Pathogenic	rs1670576656, rs1670562308, rs375730088, rs779204655, rs104893665, rs121917747, rs761407827, rs1247454080, rs1331561092, rs1280934208, rs1573882268, rs1670619549	RCV003586293 RCV003084357 RCV002637902 RCV003746506 RCV000803472 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Pathogenic	rs1573882268	RCV000850206	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoma	Pathogenic	rs398122922	RCV005888876	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SPR-related disorder	Pathogenic	rs104893665	RCV003944820	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BH4-DEFICIENT HYPERPHENYLALANINEMIA A	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dopa-responsive dystonia	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DYSTONIA DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

SPR (sepiapterin reductase)