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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

QDPR Gene

protein-coding   GIFtS: 64
GCID: GC04M017488

quinoid dihydropteridine reductase
 Explore 38 diseases affiliated with
QDPR via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for QDPR    

Aliases
for QDPR gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Quinoid Dihydropteridine Reductase1 2 3     EC 1.5.1.343 8
DHPR1 2 3 5     6,7-Dihydropteridine Reductase2
PKU21 2     Dihydropteridine Reductase2
SDR33C11 2     Short Chain Dehydrogenase/Reductase Family 33C, Member 12
HDHPR2 3     

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


Summaries
for QDPR gene

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

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_006316.16  
Regulatory elements:
   SABiosciences 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 plasmid: QDPR promoter sequence
   Search SABiosciences Chromatin IP Primers for QDPR

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for QDPR gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P09417

    • 4/7 DME Specific Peptides for QDPR (P09417) (see all 7)
     LPVTLDTP  SGSLIQVVTT  AVHQLCQSLAGK  AALDGTPGMIGYGMAK 

    QDPR Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000311.2  
    ENSEMBL proteins: 
     ENSP00000422759   ENSP00000423227   ENSP00000281243   ENSP00000390944   ENSP00000426377  
     ENSP00000426039   ENSP00000420873  
    Reactome Protein details: P09417
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Protein: QDPR
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    Novus Biologicals QDPR Proteins
    Novus Biologicals QDPR Lysate
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    ProSpec Recombinant Protein for QDPR
    Uscn Proteins for QDPR

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005625soluble fraction ----
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IEA--
    GO:0005829cytosol TAS--
    GO:0019717synaptosome ----


    QDPR for ontologies           About GeneDecksing



    QDPR Antibody Products: 
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    Uscn ELISAs and CLIAs for QDPR

    Protein Domains /
    Families
    for QDPR gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    QDPR for domains           About GeneDecksing

    3 InterPro domains/families:
     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 family: IPB002198 Short-chain dehydrogenase/reductase SDR

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


    Function
    for QDPR gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: QDPR
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat QDPR
    6 QIAGEN miScript miRNA 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 plasmid: QDPR 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for QDPR (see all 7)
    OriGene shRNA RFP: QDPR
    OriGene siRNA: QDPR
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat QDPR

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for QDPR

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for QDPR (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for QDPR (see all 2)
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    GenScript: all cDNA clones in your preferred vector: QDPR (NM_000320)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat QDPR 

    Cell Line
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    Search LifeMap BioReagents cell lines for QDPR

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for QDPR

    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:00041556,7-dihydropteridine reductase activity EXP--
    GO:0009055electron carrier activity TAS3033643
    GO:0016491oxidoreductase activity ----
    GO:0042803protein homodimerization activity IEA--


    QDPR for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Qdprtm1Jcs for QDPR
         1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Qdpr):
     skeleton 

    QDPR for phenotypes           About GeneDecksing


    Pathways & Interactions
    for QDPR gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    2Metabolism of amino acids and derivatives
    		Metabolism of amino acids and derivatives1.00
    3Folate biosynthesis
    		Folate biosynthesis1.00
    4tyrosine degradation I
    		Phenylalanine and tyrosine catabolism0.56
    5CREB Pathway
    		Intracellular Calcium Signaling0.50

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

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

    1 BioSystems Pathway for QDPR 
        phenylalanine degradation I (aerobic)

    3        Reactome Pathways for QDPR
        Phenylalanine and tyrosine catabolism
    Metabolism
    Metabolism of amino acids and derivatives


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


    QDPR for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for QDPR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/8 Interacting proteins for QDPR (P094173 ENSP000002812434) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    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): 5/11 biological process terms (GO ID links to tree view) (see all 11):    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:0010044response to aluminum ion IEA--


    QDPR for ontologies           About GeneDecksing



    Drugs & Compounds
    for QDPR gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    QDPR for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for QDPR

    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

    10/47 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about QDPR / DHPR 

    Transcripts
    for QDPR gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    6 QIAGEN miScript miRNA 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 plasmid: QDPR 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for QDPR (see all 7)
    OriGene shRNA RFP: QDPR
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat QDPR
    Clone
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat QDPR

    Additional cDNA sequence: 

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

    24/28 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 

    24/451 AceView cDNA sequences (see all 451):

    AK124382 BQ267353 AW104747 CR614918 AI081537 CR608945 AU099185 BE046197 
    BQ646723 BM785791 CR595211 BU075851 BM760507 BE312903 BU727827 AI312600 
    CR596771 CN482071 BE261182 AA488323 AA058745 CF127426 CR624599 BI027997 

    GeneLoc Exon Structure

    5/13 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

    Expression
    for QDPR gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    QDPR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GATTGCTGGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    QDPR expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeInner Nuclear LayerMature Horizontal CellsHorizontal, Retina
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See QDPR Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for QDPR

    SOURCE GeneReport for Unigene cluster: Hs.75438
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    Orthologs
    for QDPR gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for QDPR gene from 7/25 species (see all 25)    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
    94.17(a)1    		   5 (24.90 cM)5
    1103911  NM_024236.21  NP_077198.11 
     454340325 
    chicken
    (Gallus gallus)    		 Aves QDPR1 quinoid dihydropteridine reductase 75.85(n)
    82.63(a)    		   426335  NM_001006566.1  NP_001006566.1 
    lizard
    (Anolis carolinensis)    		 Reptilia QDPR6
    		 --
    		 77(a)
    		 1 ↔ 1
    		 4(125356240-125370648)
    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
    Protein QDPR-11    		 51(a)3
    50.87(n)1
    51.3(a)1    		   III(13465176-13466156)3
    1767621  NM_067359.51  NP_499760.11 


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

    Paralogs
    for QDPR gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for QDPR gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    Human Gene Mutation Database (HGMD): QDPR

    Locus Specific Mutation Databases (LSDB): QDPR
    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing QDPR
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    Disorders / Diseases
    for QDPR gene

    (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.)
    About This Section
    QDPR for disorders           About GeneDecksing

    OMIM gene information: 612676   
    OMIM disorders: 261630  
    UniProtKB/Swiss-Prot: DHPR_HUMAN, P09417
  • Defects in QDPR are the cause of BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]; also
    • called dihydropteridine reductase deficiency (DHPR deficiency) or hyperphenylalaninemia tetrahydrobiopterin-deficient
    due to DHPR deficiency or quinoid dihydropteridine reductase deficiency (QDPR deficiency). HPABH4C is a 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. These patients do not respond to
    phenylalanine-restricted diet. HPABH4C is lethal if untreated

    20/38 diseases for QDPR (see all 38):    About MalaCards
    dihydropteridine reductase deficiency    phenylketonuria    gtp cyclohydrolase i deficiency    hypokalemic periodic paralysis
    phenylketonuria due to dihydropteridine reductase deficiency    hypokalemic periodic paralysis type 2    dopa-responsive dystonia    hyperphenylalaninemia
    cerebral folate deficiency    tetrahydrobiopterin deficiency    keratomalacia    paralysis
    malignant hyperthermia    hypertonia    anorexia nervosa    intellectual disability
    tyrosinemia    adrenal neuroblastoma    dilated cardiomyopathy    vitiligo

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

    10/18 Novoseek 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

    Human Genome Epidemiology (HuGE) Navigator: QDPR (7 documents)

    Export disorders for QDPR gene to outside databases

    Publications
    for QDPR gene

    (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)
    About This Section

    PubMed articles for QDPR gene, integrated from 9 sources (see all 267):
    (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. (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. (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. (1999)
    4. Molecular basis of dihydropteridine reductase deficiency. (PubMed id 7627180)1, 2, 9 Smooker P.M. and Cotton R.G.H. (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. (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. (1993)
    7. 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. (1993)
    8. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)1, 3 Persson B.... Oppermann U. (2009)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency. (PubMed id 3031582)1, 2 Dahl H.-H.M....Cotton R.G.H. (1987)

    External Searches for QDPR gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing QDPR gene

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

    Other Databases showing QDPR gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing QDPR gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for QDPR Pharmacogenomics, SNPs, Pathways
    BIOMDBhttp://www.bh4.org/biodef1.html
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/QDPR

    Intellectual Property
    for QDPR gene

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

    GeneCards and IP:
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