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    QDPR quinoid dihydropteridine reductase [ Homo sapiens (human) ]

    Gene ID: 5860, updated on 5-Sep-2021

    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
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    Genomic context

    See QDPR in Genome Data Viewer
    Location:
    4p15.32
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (17486395..17512090, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (17488018..17513713, 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 Sharpr-MPRA regulatory region 11631 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 Functions

    What's a GeneRIF?

    Pathways from PubChem

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

    NEW Try the new Transcript table

    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
      5145..30840
      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_001306140.2NP_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_156494.2 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

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

      Range
      17486395..17512090 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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