SPR sepiapterin reductase [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPRprovided by HGNC
Official Full Name: sepiapterin reductaseprovided by HGNC
Primary source: HGNC:HGNC:11257
See related: Ensembl:ENSG00000116096 MIM:182125; AllianceGenome:HGNC:11257
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SDR38C1
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]
Expression: Ubiquitous expression in kidney (RPKM 23.8), colon (RPKM 21.8) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p13.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (72887408..72892158)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (72900349..72905099)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (73114537..73119287)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies.
Title: Molecular and metabolic bases of tetrahydrobiopterin (BH(4)) deficiencies.
The allele frequencies for the SPR c.596-2A > G (0.7%) polymorphism is not a major cause of Parkinson's disease in the Maltese.
Title: Genetic causes of Parkinson's disease in the Maltese: a study of selected mutations in LRRK2, MTHFR, QDPR and SPR.
We earlier presented evidence for a physical interaction between ODC and SPR and we showed that RNAi-mediated knockdown of SPR expression significantly reduced native ODC enzyme activity and impeded Neuroblastoma cell proliferation.
Title: Effect of sulfasalazine on human neuroblastoma: analysis of sepiapterin reductase (SPR) as a new therapeutic target.
new homozygous mutation in the SPR gene was found in two sisters with dopa-responsive dystonia
Title: Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene.
Authors identified SPR as a novel regulator of ODC enzyme activity and, based on clinical evidence, present a model in which SPR drives ODC-mediated malignant progression in neuroblastoma.
Title: Novel interaction of ornithine decarboxylase with sepiapterin reductase regulates neuroblastoma cell proliferation.
SPR-mediated reduction of sepiapterin and redox cycling occur by distinct mechanisms
Title: Sepiapterin reductase mediates chemical redox cycling in lung epithelial cells.
SRD can manifest as early-onset parkinsonism, widening the spectrum of the disease phenotype and adding to the genetic heterogeneity of the disease
Title: A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood.
this large association study for the SPR gene revealed no association for Parkinson disease worldwide.
Title: Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease.
We examine the sleep, sleep-wake rhythms, CSF neurotransmitters, and melatonin profile in a patient with sepiapterin reductase deficiency.
Title: Sleep and rhythm consequences of a genetically induced loss of serotonin.
Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Dopa-responsive dystonia due to sepiapterin reductase deficiency MedGen: C0268468 OMIM: 612716 GeneReviews: Sepiapterin Reductase Deficiency	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D2S1632E (e-PCR)
- UniSTS:150694

D2S2713 (e-PCR)
- UniSTS:21708

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NADP binding	TAS Traceable Author Statement more info	PubMed
enables aldo-keto reductase (NADPH) activity	TAS Traceable Author Statement more info	PubMed
enables sepiapterin reductase (NADP+) activity	IBA Inferred from Biological aspect of Ancestor more info
enables sepiapterin reductase (NADP+) activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in nitric oxide biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in tetrahydrobiopterin biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in tetrahydrobiopterin biosynthetic process	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: sepiapterin reductase

Names: Sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming); sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase); short chain dehydrogenase/reductase family 38C, member 1

NP_003115.1

EC 1.1.1.153

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.