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    QDPR quinoid dihydropteridine reductase [ Homo sapiens (human) ]

    Gene ID: 5860, updated on 15-Apr-2019

    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 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, ENST00000281243.10
      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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