QDPR quinoid dihydropteridine reductase [Homo sapiens (human)] - Gene

Summary

Official Symbol: QDPRprovided by HGNC
Official Full Name: quinoid dihydropteridine reductaseprovided by HGNC
Primary source: HGNC:HGNC:9752
See related: Ensembl:ENSG00000151552 MIM:612676; AllianceGenome:HGNC:9752
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: DHPR; PKU2; HDHPR; SDR33C1
Summary: This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin. This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. Mutations in this gene resulting in QDPR deficiency include aberrant splicing, amino acid substitutions, insertions, or premature terminations. Dihydropteridine reductase deficiency presents as atypical phenylketonuria due to insufficient production of biopterin, a cofactor for phenylalanine hydroxylase. [provided by RefSeq, Jul 2008]
Expression: Broad expression in brain (RPKM 86.6), kidney (RPKM 64.2) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4p15.32

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (17486395..17512090, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (17468141..17493839, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (17488018..17513713, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Comprehensive bioinformatics analysis of structural and functional consequences of deleterious missense mutations in the human QDPR gene.
Title: Comprehensive bioinformatics analysis of structural and functional consequences of deleterious missense mutations in the human QDPR gene.
QDPR deficiency drives immune suppression in pancreatic cancer.
Title: QDPR deficiency drives immune suppression in pancreatic cancer.
show for the first time statistically significant up regulation of iNOS in QDPR overexpressing astrocytes. Increased expression of iNOS associated with astrocyte pathology seen in many neurodegenerative disorders may have implications in autoimmune neurodegenerative disorders.
Title: Expression and Purification of Quinine Dihydro Pteridine Reductase from astrocytes and its significance in the astrocyte pathology.
Mutation of dihydropteridine reductase (QDPR) inhibited the regulation of TOR serine-threonine kinases (mTOR), suggesting that QDPR is a positive regulator of autophagy via suppressing mTOR signaling.
Title: A278C mutation of dihydropteridine reductase decreases autophagy via mTOR signaling.
The allele frequencies for the QDPR c.68G > A(0.3%) 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.
The mutation spectrum of the QDPR gene is different in the Chinese population. Most mutations are related to severe phenotype.
Title: QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency.
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.
Report suggests that serum prolactin levels can be a good biomarker for optimal dosage of hydroxylated precursors in long-term treatment monitoring for DHPR-deficient patients.
Title: Serum prolactin as a tool for the follow-up of treated DHPR-deficient patients.
the electrostatic regulatory interaction between the SPRY2 F loop residues (that bind to imperatoxin A) and the ASI/basic residues of RyR1 does not influence bi-directional DHPR-RyR1 signaling during skeletal EC coupling
Title: The elusive role of the SPRY2 domain in RyR1.
This protein has been found differentially expressed in thalami from patients with schizophrenia.
Title: Proteome analysis of the thalamus and cerebrospinal fluid reveals glycolysis dysfunction and potential biomarkers candidates for schizophrenia.

Submit: New GeneRIF Correction See all GeneRIFs (17)

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
Dihydropteridine reductase deficiency MedGen: C0268465 OMIM: 261630 GeneReviews: Not available	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

SHGC-145965 (e-PCR)
- UniSTS:174905

G62087 (e-PCR)
- UniSTS:139095

GDB:181534 (e-PCR)
- UniSTS:155260

SHGC-59578 (e-PCR)
- UniSTS:24492

Gene Ontology Provided by GOA

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	IDA Inferred from Direct Assay more info	PubMed
enables NADH binding	IBA Inferred from Biological aspect of Ancestor more info
enables NADPH binding	IBA Inferred from Biological aspect of Ancestor more info
enables electron transfer activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in L-phenylalanine catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in amino acid metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in dihydrobiopterin metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in tetrahydrobiopterin biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	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

General protein information

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Preferred Names: dihydropteridine reductase

Names: 6,7-dihydropteridine reductase; short chain dehydrogenase/reductase family 33C member 1; testis secretory sperm-binding protein Li 236P

NP_000311.2

EC 1.5.1.34

NP_001293069.1

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.

Genomic

NG_008763.1 RefSeqGene

Range

5145..30840

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000320.3 → NP_000311.2 dihydropteridine reductase isoform 1

See identical proteins and their annotated locations for NP_000311.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).

Source sequence(s)

AC093600, AW104747, BC000576, BM762805

Consensus CDS

CCDS3421.1

UniProtKB/Swiss-Prot

A8K158, B3KW71, P09417, Q53F52, Q9H3M5

UniProtKB/TrEMBL

A0A140VKA9

Related

ENSP00000281243.5, ENST00000281243.10

Conserved Domains (1) summary

cd05334
Location:10 → 232

DHPR_SDR_c_like; dihydropteridine reductase (DHPR), classical (c) SDRs
NM_001306140.2 → NP_001293069.1 dihydropteridine reductase isoform 2

See identical proteins and their annotated locations for NP_001293069.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.

Source sequence(s)

AK124382, AW104747, BM760507

Consensus CDS

CCDS77904.1

UniProtKB/Swiss-Prot

P09417

Related

ENSP00000390944.2, ENST00000428702.6

Conserved Domains (1) summary

cd05334
Location:10 → 201

DHPR_SDR_c_like; dihydropteridine reductase (DHPR), classical (c) SDRs

RNA

NR_156494.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

CD514662, HM005649

Related

ENST00000507439.5