Spr sepiapterin reductase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sprprovided by MGI
Official Full Name: sepiapterin reductaseprovided by MGI
Primary source: MGI:MGI:103078
See related: Ensembl:ENSMUSG00000033735 AllianceGenome:MGI:103078
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gm10328
Summary: Enables protein homodimerization activity. Acts upstream of or within several processes, including L-phenylalanine metabolic process; catecholamine metabolic process; and voluntary musculoskeletal movement. Located in mitochondrion. Is expressed in several structures, including alimentary system; heart; nervous system; sensory organ; and skeleton. Used to study Parkinson's disease. Human ortholog(s) of this gene implicated in dystonia and sepiapterin reductase deficiency. Orthologous to human SPR (sepiapterin reductase). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in kidney adult (RPKM 25.9), liver adult (RPKM 22.1) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 C3; 6 37.15 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (85110662..85114746, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (85133680..85137764, complement)

Chromosome 6 - NC_000072.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Our results suggest that the hypertension with fluctuation and bradycardia of Spr(-/-) mice would be caused by an imbalance of sympathetic and parasympathetic input and impaired nitric oxide production in endothelial cells.
Title: Sepiapterin reductase gene-disrupted mice suffer from hypertension with fluctuation and bradycardia.
SPR-mediated reduction of sepiapterin and redox cycling occur by distinct mechanisms
Title: Sepiapterin reductase mediates chemical redox cycling in lung epithelial cells.
biopterin contents in the brains of these knock-out mice were moderately decreased from postnatal day 0 (P0) and remained constant up to P21
Title: Partial biopterin deficiency disturbs postnatal development of the dopaminergic system in the brain.
These data suggest an essential role of SPR in the biosynthesis of BH4, and that the SPR gene could be a candidate gene for PARK3.
Title: A brain-specific decrease of the tyrosine hydroxylase protein in sepiapterin reductase-null mice--as a mouse model for Parkinson's disease.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Spr (e-PCR), detects polymorphism
- UniSTS:144504

RH124882 (e-PCR)
- UniSTS:161704

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables sepiapterin reductase (NADP+) activity	IBA Inferred from Biological aspect of Ancestor more info
enables sepiapterin reductase (NADP+) activity	ISO Inferred from Sequence Orthology more info
enables sepiapterin reductase (NADP+) activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within L-phenylalanine metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell morphogenesis involved in neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within dopamine metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nitric oxide biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within norepinephrine metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pteridine metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within serotonin metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in tetrahydrobiopterin biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in tetrahydrobiopterin biosynthetic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within tetrahydrobiopterin metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within voluntary musculoskeletal movement	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: sepiapterin reductase

NP_035597.2

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.