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    QDPR quinoid dihydropteridine reductase [ Homo sapiens (human) ]

    Gene ID: 5860, updated on 22-Apr-2017
    Official Symbol
    QDPRprovided by HGNC
    Official Full Name
    quinoid dihydropteridine reductaseprovided by HGNC
    Primary source
    HGNC:HGNC:9752
    See related
    Ensembl:ENSG00000151552 MIM:612676; Vega:OTTHUMG00000128537
    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; 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]
    Orthologs
    Location:
    4p15.32
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 uncharacterized LOC107986219 Neighboring gene ribosomal protein S7 pseudogene 6 Neighboring gene clarin 2 Neighboring gene nascent polypeptide associated complex alpha subunit pseudogene 5

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    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 
    NADH binding IEA
    Inferred from Electronic Annotation
    more info
     
    NADPH binding IEA
    Inferred from Electronic Annotation
    more info
     
    electron carrier 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 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 
    liver development IEA
    Inferred from Electronic Annotation
    more info
     
    oxidation-reduction process 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 IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    neuron projection IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    dihydropteridine reductase
    Names
    6,7-dihydropteridine reductase
    HDHPR
    short chain dehydrogenase/reductase family 33C member 1
    testis secretory sperm-binding protein Li 236P
    NP_000311.2
    NP_001293069.1

    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_000320.2NP_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 longer 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, OTTHUMP00000158671, ENST00000281243.9, OTTHUMT00000250372
      Conserved Domains (2) summary
      cd05334
      Location:10232
      DHPR_SDR_c_like; dihydropteridine reductase (DHPR), classical (c) SDRs
      PRK12828
      Location:9230
      PRK12828; short chain dehydrogenase; Provisional
    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, OTTHUMP00000217799, ENST00000428702.6, OTTHUMT00000359705
      Conserved Domains (1) summary
      cd05334
      Location:10201
      DHPR_SDR_c_like; dihydropteridine reductase (DHPR), classical (c) SDRs

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p7 Primary Assembly

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

    RNA

    1. XR_241677.1 RNA Sequence

      Related
      ENST00000507439.5, OTTHUMT00000359706

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      17485950..17511774 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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