Qdpr quinoid dihydropteridine reductase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Qdprprovided by MGI
Official Full Name: quinoid dihydropteridine reductaseprovided by MGI
Primary source: MGI:MGI:97836
See related: Ensembl:ENSMUSG00000015806 AllianceGenome:MGI:97836
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: Dhpr; PKU2; D5Ertd371e; 2610008L04Rik
Summary: Predicted to enable 6,7-dihydropteridine reductase activity; adenyl nucleotide binding activity; and identical protein binding activity. Predicted to be involved in L-phenylalanine catabolic process and tetrahydrobiopterin biosynthetic process. Located in mitochondrion. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; nose; and respiratory system. Human ortholog(s) of this gene implicated in BH4-deficient hyperphenylalaninemia C and phenylketonuria. Orthologous to human QDPR (quinoid dihydropteridine reductase). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in liver adult (RPKM 202.3), cerebellum adult (RPKM 120.9) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 B3; 5 24.9 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (45591374..45607571, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (45434032..45450229, complement)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Quinonoid dihydropteridine reductase, a tetrahydrobiopterin-recycling enzyme, contributes to 5-hydroxytryptamine-associated platelet aggregation in mice.
Title: Quinonoid dihydropteridine reductase, a tetrahydrobiopterin-recycling enzyme, contributes to 5-hydroxytryptamine-associated platelet aggregation in mice.
wide alterations in folate-associated metabolism in the Qdpr(-/-) mice
Title: Disturbed biopterin and folate metabolism in the Qdpr-deficient mouse.
JP1 and JP2 can facilitate the assembly of DHPR with other proteins of the excitation-contraction coupling machinery
Title: Junctophilin 1 and 2 proteins interact with the L-type Ca2+ channel dihydropyridine receptors (DHPRs) in skeletal muscle.
voltage dependence of DHPR-triggered Ca(2+) release flux was left-shifted by approximately 8 mV by mutation in RyR1 (Y522S)
Title: A retrograde signal from RyR1 alters DHP receptor inactivation and limits window Ca2+ release in muscle fibers of Y522S RyR1 knock-in mice.

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Variation

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Alleles

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

Endonuclease-mediated (3)
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

RH127087 (e-PCR)
- UniSTS:167431

Qdpr (e-PCR), detects polymorphism
- UniSTS:166288

RH140863 (e-PCR)
- UniSTS:222891

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 6,7-dihydropteridine reductase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 6,7-dihydropteridine reductase activity	ISO Inferred from Sequence Orthology more info
enables 6,7-dihydropteridine reductase activity	ISS Inferred from Sequence or Structural Similarity more info
enables NADH binding	IBA Inferred from Biological aspect of Ancestor more info
enables NADH binding	ISO Inferred from Sequence Orthology more info
enables NADPH binding	IBA Inferred from Biological aspect of Ancestor more info
enables NADPH binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in L-phenylalanine catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in tetrahydrobiopterin biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in tetrahydrobiopterin biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in tetrahydrobiopterin biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed

General protein information

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Preferred Names: dihydropteridine reductase

Names: HDHPR

NP_077198.1

EC 1.5.1.34

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.