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QDPR Gene

protein-coding   GIFtS: 68
GCID: GC04M017488

Quinoid Dihydropteridine Reductase

  See QDPR-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Quinoid Dihydropteridine Reductase1 2 3     Short Chain Dehydrogenase/Reductase Family 33C1
DHPR2 3 5     6,7-Dihydropteridine Reductase2
HDHPR2 3     PKU22
EC 1.5.1.343 8     SDR33C12
61     Dihydropteridine Reductase2
7-Dihydropteridine Reductase1     Short Chain Dehydrogenase/Reductase Family 33C, Member 12
Member 11     

External Ids:    HGNC: 97521   Entrez Gene: 58602   Ensembl: ENSG000001515527   OMIM: 6126765   UniProtKB: P094173   

Export aliases for QDPR gene to outside databases

Previous GC identifers: GC04M017302 GC04M017430 GC04M017176 GC04M017238 GC04M017164 GC04M017097 GC04M016842


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for QDPR Gene:
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)

GeneCards Summary for QDPR Gene:
QDPR (quinoid dihydropteridine reductase) is a protein-coding gene. Diseases associated with QDPR include bh4-deficient hyperphenylalaninemia c, and dihydropteridine reductase deficiency. GO annotations related to this gene include protein homodimerization activity and NADPH binding.

UniProtKB/Swiss-Prot: DHPR_HUMAN, P09417
Function: The product of this enzyme, tetrahydrobiopterin (BH-4), is an essential cofactor for phenylalanine,
tyrosine, and tryptophan hydroxylases

Gene Wiki entry for QDPR Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NT_006316.17  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the QDPR gene promoter:
         RFX1   NF-1   NF-1/L   AML1a   FOXD3   CREB   Ik-2   deltaCREB   c-Myb   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidQDPR promoter sequence
   Search Chromatin IP Primers for QDPR

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat QDPR


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4p15.31   Ensembl cytogenetic band:  4p15.32   HGNC cytogenetic band: 4p15.31

QDPR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
QDPR gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M017488:  view genomic region     (about GC identifiers)

Start:
17,461,884 bp from pter      End:
17,513,857 bp from pter
Size:
51,974 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: DHPR_HUMAN, P09417 (See protein sequence)
Recommended Name: Dihydropteridine reductase  
Size: 244 amino acids; 25790 Da
Subunit: Homodimer
1 PDB 3D structure from and Proteopedia for QDPR:
1HDR (3D)    
Secondary accessions: A8K158 Q53F52 Q9H3M5

Explore the universe of human proteins at neXtProt for QDPR: NX_P09417

Explore proteomics data for QDPR at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys138
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for QDPR (P09417) (see all 7)
     LPVTLDTP  SGSLIQVVTT  AVHQLCQSLAGK  AALDGTPGMIGYGMAK 


    See QDPR Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000311.2  
    ENSEMBL proteins: 
     ENSP00000422759   ENSP00000423227   ENSP00000281243   ENSP00000390944   ENSP00000426377  
     ENSP00000426039   ENSP00000420873  
    Reactome Protein details: P09417

    QDPR Human Recombinant Protein Products:

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    Novus Biologicals QDPR Proteins
    Novus Biologicals QDPR Lysate
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    ProSpec Recombinant Protein for QDPR
    Cloud-Clone Corp. Proteins for QDPR

     
    Search eBioscience for Proteins for QDPR 

     
    antibodies-online proteins for QDPR (11 products) 

     
    antibodies-online peptides for QDPR

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SDRA: Short chain dehydrogenase/reductase superfamily / Atypical members

    3 InterPro protein domains:
     IPR020904 Sc_DH/Rdtase_CS
     IPR002198 DH_sc/Rdtase_SDR
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry P09417

    ProtoNet protein and cluster: P09417

    1 Blocks protein domain: IPB002198 Short-chain dehydrogenase/reductase SDR

    UniProtKB/Swiss-Prot: DHPR_HUMAN, P09417
    Similarity: Belongs to the short-chain dehydrogenases/reductases (SDR) family


    Find genes that share domains with QDPR           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DHPR_HUMAN, P09417
    Function: The product of this enzyme, tetrahydrobiopterin (BH-4), is an essential cofactor for phenylalanine,
    tyrosine, and tryptophan hydroxylases
    Catalytic activity: A 5,6,7,8-tetrahydropteridine + NAD(P)(+) = a 6,7-dihydropteridine + NAD(P)H

         Genatlas biochemistry entry for QDPR:
    quininoid dihydropteridine reductase,tetrahydrobiopterin (BH4) cycle,phenylalanine hydroxylation system

         Enzyme Number (IUBMB): EC 1.5.1.341 2

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00041556,7-dihydropteridine reductase activity EXP--
    GO:0009055electron carrier activity TAS3033643
    GO:0016491oxidoreductase activity ----
    GO:0042803protein homodimerization activity IEA--
    GO:0070402NADPH binding IEA--
         
    Find genes that share ontologies with QDPR           About GenesLikeMe


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Qdpr):
     skeleton 

    Find genes that share phenotypes with QDPR           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Qdprtm1Jcs for QDPR

       genOway: Develop your customized and physiologically relevant rodent model for QDPR

    miRNA
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    miRTarBase miRNAs that target QDPR:
    hsa-mir-26b-5p (MIRT029076), hsa-mir-34a-5p (MIRT025362)

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    6 qRT-PCR Assays for microRNAs that regulate QDPR:
    hsa-miR-3910 hsa-miR-34b* hsa-miR-124 hsa-miR-506 hsa-miR-3714 hsa-miR-449c
    SwitchGear 3'UTR luciferase reporter plasmidQDPR 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat QDPR

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    endoplasmic reticulum3
    mitochondrion2
    plasma membrane2
    nucleus1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IEA--
    GO:0005829cytosol TAS--
    GO:0043005neuron projection IEA--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with QDPR           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for QDPR About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    2phenylalanine degradation I
    phenylalanine degradation I
    tetrahydrobiopterin salvage0.00
    3Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    Phenylalanine and tyrosine catabolism0.00
    4CREB Pathway
    Intracellular Calcium Signaling0.50
    5Folate biosynthesis
    Folate biosynthesis


    Find genes that share SuperPaths with QDPR           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for QDPR
        Intracellular Calcium Signaling

    2 BioSystems Pathways for QDPR
        phenylalanine degradation I
    tetrahydrobiopterin salvage


    1 Reactome Pathway for QDPR
        Phenylalanine and tyrosine catabolism


    2 Kegg Pathways  (Kegg details for QDPR):
        Folate biosynthesis
    Metabolic pathways

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for QDPR
    Interactions:

        Search GeneGlobe Interaction Network for QDPR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for QDPR (P094173 ENSP000002812434) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PDHBP111773, ENSP000003072414I2D: score=5 STRING: ENSP00000307241
    PAHP004393, ENSP000003035004I2D: score=1 STRING: ENSP00000303500
    APOA1P026473, ENSP000002368504I2D: score=1 STRING: ENSP00000236850
    GRB2P629933I2D: score=2 
    PCBD1ENSP000002992994STRING: ENSP00000299299
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001889liver development IEA--
    GO:0006520cellular amino acid metabolic process TAS3033643
    GO:0006559L-phenylalanine catabolic process TAS--
    GO:0006729tetrahydrobiopterin biosynthetic process IEA--
    GO:0008152metabolic process ----

    Find genes that share ontologies with QDPR           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for QDPR (DHPR)

    9 HMDB Compounds for QDPR    About this table
    CompoundSynonyms CAS #PubMed Ids
    Dihydrobiopterin(S-(R*,S*))-2-amino-6-(1,2-dihydroxypropyl)-7,8-dihydro-4(1H)-Pteridinone (see all 15)6779-87-9--
    Dihydropteridine6,7-dihydropteridine ----
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--
    Sapropterin(6R)-5,6,7,8-Tetrahydro-L-biopterin (see all 11)62989-33-7--
    Tetrahydrobiopterin(1R,2S)-(2-Amino-3,4,5,6,7,8-hexahydro-4-oxo-6-pteridinyl)-1,2-propandiol (see all 11)17528-72-2--
    Tetrahydropteridine5,6,7,8-Tetrahydropteridine (see all 4)10593-78-9--

    3 DrugBank Compounds for QDPR    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--3086306 6820434 10814540 17139284 17016423
    Nicotinamide-Adenine-Dinucleotide-- 53-84-9target--17139284 17016423 10592235
    2-(N-Morpholino)-Ethanesulfonic Acid-- --target--10592235

    Selected Novoseek inferred chemical compound relationships for QDPR gene (see all 47)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dihydropteridine 99.3 221 12956422 (4), 2116088 (4), 1861459 (4), 9796752 (3) (see all 99)
    6-pyruvoyltetrahydropterin 94.9 23 16917893 (2), 1754298 (1), 11694255 (1), 12003346 (1) (see all 14)
    dihydropyridine 93.3 78 8755610 (1), 9395065 (1), 10760701 (1), 13679303 (1) (see all 69)
    tetrahydrobiopterin 92.6 47 1956581 (2), 1283784 (2), 8554621 (2), 8433887 (2) (see all 27)
    7-biopterin 88.8 2 7923811 (1)
    ryanodine 88.2 51 11412150 (2), 15505226 (2), 19802526 (2), 8755610 (1) (see all 41)
    pterin 86.7 28 19534905 (3), 12956422 (2), 1754298 (1), 1289568 (1) (see all 14)
    sepiapterin 83.7 17 16917893 (2), 12003346 (1), 17188538 (1), 2039522 (1) (see all 8)
    dihydrobiopterin 78.8 5 1956581 (1), 7609464 (1), 11153907 (1)
    pteridine 78 7 1886401 (1), 10484807 (1), 16116247 (1), 2039522 (1) (see all 7)



    Find genes that share compounds with QDPR           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for QDPR gene: 
    NM_000320.2  

    Unigene Cluster for QDPR:

    Quinoid dihydropteridine reductase
    Hs.75438  [show with all ESTs]
    Unigene Representative Sequence: AK124952
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000513615(uc021xmo.1) ENST00000507439 ENST00000281243(uc003gpd.3 uc003gpe.3)
    ENST00000428702 ENST00000501943 ENST00000508623 ENST00000514300 ENST00000505710
    ENST00000511609
    miRNA
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    hsa-miR-3910 hsa-miR-34b* hsa-miR-124 hsa-miR-506 hsa-miR-3714 hsa-miR-449c
    SwitchGear 3'UTR luciferase reporter plasmidQDPR 3' UTR sequence
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    Primer
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      QuantiFast Probe-based Assays in human, mouse, rat QDPR

    Additional mRNA sequence: 

    AK124382.1 AK124952.1 AK223437.1 AK289773.1 AK296622.1 BC000576.2 BC036878.1 M16447.1 
    X04882.1 

    Selected DOTS entries (see all 28):

    DT.316605  DT.40250555  DT.100824314  DT.100824324  DT.86854894  DT.92449037  DT.92449039  DT.121240196 
    DT.95250989  DT.100824315  DT.95236053  DT.100824306  DT.100824310  DT.121240152  DT.99968607  DT.121240128 
    DT.100824320  DT.100824323  DT.121240155  DT.95185917  DT.95185953  DT.121240121  DT.121240147  DT.95185918 

    Selected AceView cDNA sequences (see all 451):

    CR617908 CR602964 CF127426 CR614918 AI312600 AI081537 BQ267353 BQ654156 
    AW104747 BM806462 BM803692 BF971542 CD514662 BU633587 BF971916 CA444791 
    BU196713 BU196156 CA443385 AI144281 BE046197 BG752102 BQ643721 BM760507 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for QDPR (see all 13)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b · 9c · 9d · 9e · 9f · 9g
    SP1:                          -                             -                 -                       -                                                   
    SP2:                                                        -                 -                       -                                                   
    SP3:                                                        -                 -     -                                                                     
    SP4:                          -                             -                 -     -                 -                                                   
    SP5:                          -     -     -                 -                 -                       -                                                   


    ECgene alternative splicing isoforms for QDPR

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    QDPR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATTGCTGGA
    QDPR Expression
    About this image


    QDPR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebral Cortex
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Mature Horizontal Cells Inner Nuclear Layer
             Retina
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Neurons
             Mature Horizontal Cells Inner Nuclear Layer
    QDPR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    QDPR Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.75438
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for QDPR gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Qdpr1 , 5 quinoid dihydropteridine reductase1, 5 88.61(n)1
    94.51(a)1
      5 (24.90 cM)5
    1103911  NM_024236.21  NP_077198.11 
     454340325 
    chicken
    (Gallus gallus)
    Aves QDPR1 quinoid dihydropteridine reductase 75.74(n)
    81.7(a)
      426335  NM_001006566.1  NP_001006566.1 
    lizard
    (Anolis carolinensis)
    Reptilia QDPR6
    quinoid dihydropteridine reductase
    77(a)
    1 ↔ 1
    4(125354323-125370845)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.167042 Xenopus laevis transcribed sequence with weak similarity more 72.52(n)    CF549111.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.195252 Transcribed sequence with weak similarity to protein more 74.22(n)    AL913568.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Dhpr1 , 3 dihydropteridine reductase3
    Dihydropteridine reductase1
    58(a)3
    61.35(n)1
    59.48(a)1
      3 66F63
    390501  NM_001014579.11  NP_001014579.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T03F6.13
    qdpr-11
    Alcohol/other dehydrogenases, short
    chain type3
    qdpr-11
    51(a)3
    50.87(n)1
    51.3(a)1
      III(13465176-13466156)3
    1767621  NM_067359.61  NP_499760.11 


    ENSEMBL Gene Tree for QDPR (if available)
    TreeFam Gene Tree for QDPR (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for QDPR (see all 637)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0217694
    Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)4--see VAR_0217692 Q R mis40--------
    VAR_0081224
    Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)4--see VAR_0081222 G V mis40--------
    VAR_0069604
    Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)4--see VAR_0069602 G D mis40--------
    VAR_0069694
    Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)4--see VAR_0069692 G S mis40--------
    VAR_0217704
    Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)4--see VAR_0217702 G R mis40--------
    VAR_0069654
    Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)4--see VAR_0069652 P L mis40--------
    VAR_0069704
    Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)4--see VAR_0069702 F C mis40--------
    VAR_0081214
    Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)4--see VAR_0081212 L P mis40--------
    VAR_0069684
    Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)4--see VAR_0069682 H Y mis40--------
    VAR_0069664
    Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)4--see VAR_0069662 Y C mis40--------

    HapMap Linkage Disequilibrium report for QDPR (17461884 - 17513857 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for QDPR: --
    Human Gene Mutation Database (HGMD): QDPR
    Locus Specific Mutation Databases (LSDB): QDPR

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612676   
    OMIM disorders: 261630  
    UniProtKB/Swiss-Prot: DHPR_HUMAN, P09417
  • Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630]: Rare autosomal recessive disorder
    characterized by hyperphenylalaninemia and severe neurologic symptoms (malignant hyperphenylalaninemia) including
    axial hypotonia and truncal hypertonia, abnormal thermogenesis, and microcephaly. These signs are attributable to
    depletion of the neurotransmitters dopamine and serotonin, whose syntheses are controlled by tryptophan and
    tyrosine hydroxylases that use BH-4 as cofactor. Patients do not respond to phenylalanine-restricted diet.
    HPABH4C is lethal if untreated. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 14 diseases for QDPR:    
    About MalaCards
    bh4-deficient hyperphenylalaninemia c    dihydropteridine reductase deficiency    cerebral folate deficiency    keratomalacia
    tetrahydrobiopterin deficiency    hypokalemic periodic paralysis type 2    phenylketonuria    gtp cyclohydrolase i deficiency
    mild hyperphenylalaninemia    hyperphenylalaninemia    hypokalemic periodic paralysis    tyrosinemia
    vitiligo    neuroblastoma

    3 diseases from the University of Copenhagen DISEASES database for QDPR:
    Phenylketonuria     Malignant hyperthermia     Keratomalacia

    Find genes that share disorders with QDPR           About GenesLikeMe

    Selected Novoseek inferred disease relationships for QDPR gene (see all 18)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperphenylalaninemia 95 22 10384371 (1), 12003346 (1), 14705166 (1), 9075022 (1) (see all 17)
    gtp cyclohydrolase i deficiency 85.6 2 16275037 (1), 8830181 (1)
    phenylketonuria atypical 84.3 2 7760062 (1), 12637773 (1)
    phenylketonuria classical 80.6 6 8819618 (1), 16767663 (1), 8222274 (1), 8404969 (1)
    phenylketonurias 79.4 9 1754298 (1), 1289568 (1), 8819618 (1), 1745643 (1) (see all 8)
    enzyme deficiency 52.7 1 12003346 (1)
    hypokalemic periodic paralysis 46.7 2 10944223 (1), 15336973 (1)
    mental retardation 38.4 2 19099731 (1)
    myopathy 30.6 2 9199776 (1), 15336973 (1)
    vitiligo 16.5 2 15009710 (2)

    Genatlas disease: QDPR
    hyperphenylalaninemia,malignant phenylketonuria with neurologic deterioration

    Genetic Association Database (GAD): QDPR
    Human Genome Epidemiology (HuGE) Navigator: QDPR (7 documents)

    Export disorders for QDPR gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for QDPR gene, integrated from 10 sources (see all 273):
    (articles sorted by number of sources associating them with QDPR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE). (PubMed id 11153907)1, 2, 9 Romstad A.... Guettler F. (Hum. Genet. 2000)
    2. Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations. (PubMed id 9744478)1, 2, 9 Dianzani I.... Cotton R.G.H. (Hum. Mutat. 1998)
    3. A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. (PubMed id 10408783)1, 2, 9 Smooker P.M....Dianzani I. (Hum. Mutat. 1999)
    4. Molecular basis of dihydropteridine reductase deficiency. (PubMed id 7627180)1, 2, 9 Smooker P.M. and Cotton R.G.H. (Hum. Mutat. 1995)
    5. Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency. (PubMed id 2116088)1, 2, 9 Howells D.W.... Cotton R.G.H. (Am. J. Hum. Genet. 1990)
    6. Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency. (PubMed id 8326489)1, 2, 9 Dianzani I....Cotton R.G.H. (J. Med. Genet. 1993)
    7. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. (PubMed id 19491146)1, 4, 9 Clot F....Brice A. (Brain 2009)
    8. The crystallographic structure of a human dihydropteridine reductase NADH binary complex expressed in Escherichia coli by a cDNA constructed from its rat homologue. (PubMed id 8262916)1, 2, 9 Su Y....Whiteley J.M. (J. Biol. Chem. 1993)
    9. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (Alcohol. Clin. Exp. Res. 2010)
    10. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5860 HGNC: 9752 AceView: QDPR Ensembl:ENSG00000151552 euGenes: HUgn5860
    ECgene: QDPR Kegg: 5860 H-InvDB: QDPR

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for QDPR Pharmacogenomics, SNPs, Pathways
    BIOMDBhttp://www.bh4.org/biodef1.html
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=QDPR[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for QDPR gene:
    Search GeneIP for patents involving QDPR

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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