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QDPR quinoid dihydropteridine reductase [ Homo sapiens (human) ]

Gene ID: 5860, updated on 9-Dec-2018

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
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

Genomic context

See QDPR in Genome Data Viewer
Location:
4p15.32
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (17486393..17512234, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (17488016..17513857, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA, H/ACA box 75B Neighboring gene ribosomal protein S7 pseudogene 6 Neighboring gene clarin 2 Neighboring gene NACA pseudogene 5

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ42391

Gene Ontology Provided by GOA

Function Evidence Code Pubs
6,7-dihydropteridine reductase activity EXP
Inferred from Experiment
more info
PubMed 
6,7-dihydropteridine reductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NADH binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NADPH binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
electron transfer activity TAS
Traceable Author Statement
more info
PubMed 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
L-phenylalanine catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
L-phenylalanine catabolic process TAS
Traceable Author Statement
more info
 
cellular amino acid metabolic process TAS
Traceable Author Statement
more info
PubMed 
cellular response to drug IEA
Inferred from Electronic Annotation
more info
 
dihydrobiopterin metabolic process TAS
Traceable Author Statement
more info
PubMed 
electron transport chain IEA
Inferred from Electronic Annotation
more info
 
liver development IEA
Inferred from Electronic Annotation
more info
 
response to aluminum ion IEA
Inferred from Electronic Annotation
more info
 
response to glucagon IEA
Inferred from Electronic Annotation
more info
 
response to lead ion IEA
Inferred from Electronic Annotation
more info
 
tetrahydrobiopterin biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
neuron projection IEA
Inferred from Electronic Annotation
more info
 

General protein information

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
NP_001293069.1

NCBI Reference Sequences (RefSeq)

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

  1. NG_008763.1 RefSeqGene

    Range
    5001..30842
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000320.3NP_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
    P09417
    UniProtKB/TrEMBL
    A0A140VKA9
    Related
    ENSP00000281243.5, ENST00000281243.9
    Conserved Domains (1) summary
    cd05334
    Location:10232
    DHPR_SDR_c_like; dihydropteridine reductase (DHPR), classical (c) SDRs
  2. NM_001306140.1NP_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:10201
    DHPR_SDR_c_like; dihydropteridine reductase (DHPR), classical (c) SDRs

RNA

  1. NR_156494.1 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)
    BM760507, CD514662, HM005649

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    17486393..17512234 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_241677.2 RNA Sequence

    Related
    ENST00000507439.5
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