 |
 | Services
| |
 |
Aliases & Descriptions for QDPR
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| DHPR 1, 2, 3, 5 | | EC 1.5.1.34 3 | | FLJ42391 2 | | HDHPR 3 | | PKU2 1, 2 | | SDR33C1 1, 2 |
| | | Descriptions |
|---|
| 6,7-dihydropteridine reductase 2 | | quinoid dihydropteridine reductase 2, 3 | | short chain dehydrogenase/reductase family 33C, member 1 2 |
|
| | Search outside databases for aliases for QDPR genePrevious GC identifers: GC04M017302 GC04M017430 GC04M017176 GC04M017238 GC04M017164 |
Summaries for QDPR(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene 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] UniProtKB/Swiss-Prot: DHPR_HUMAN, P09417Function: The product of this enzyme, tetrahydrobiopterin (BH-4), is an essential cofactor for phenylalanine, tyrosine, and tryptophan hydroxylasesGene Wiki entry for QDPR |
Genomic Location for QDPR
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the QDPR gene 
Entrez Gene cytogenetic band: 4p15.31 Ensembl cytogenetic band: 4p15.32 HGNC cytogenetic band: 4p15.31QDPR Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 4 GeneLoc Exon Structure GeneLoc location for GC04M017097:
(about GC identifiers)
Start:
|
17,097,121 bp from pter |
End:
|
17,154,822 bp from pter |
Size:
|
57,702 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000004.10 NT_006316.15
| Proteins for QDPR
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: DHPR_HUMAN, P09417 (See
protein sequence)Recommended Name: Dihydropteridine reductase Size: 244 amino acids; 25790 Da
Subunit: Homodimer
PDB structures from and Proteopedia :1HDR (3D)
 
Secondary accessions: Q53F52 Q9H3M5REFSEQ proteins: NP_000311.2
ENSEMBL proteins: ENSP00000281243
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
1 Gene Ontology (GO) cellular component term (links to tree view): About this table
Antibodies for QDPR: Assays for QDPR: | Protein
Domains/ Families for QDPR(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - 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, P09417Similarity: Belongs to the short-chain dehydrogenases/reductases (SDR) family | Gene Function for QDPR
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|                OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): BC000576
Applied Biosystems Silencer® siRNAs for QDPR
Sigma-Aldrich siRNA and siRNA Panels for QDPR  Sigma-Aldrich shRNA for QDPR  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000320                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000320                                  untagged cDNA clones in CMV expression vector (see all 2): BC000576 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000320
UniProtKB/Swiss-Prot: DHPR_HUMAN, P09417Function: The product of this enzyme, tetrahydrobiopterin (BH-4), is an essential cofactor for phenylalanine, tyrosine, and tryptophan hydroxylasesCatalytic activity: A 5,6,7,8-tetrahydropteridine + NAD(P)(+) = a 6,7-dihydropteridine + NAD(P)HEnzyme Number (IUBMB): EC 1.5.1.34 Genatlas biochemistry entry for QDPR:quininoid dihydropteridine reductase,tetrahydrobiopterin (BH4) cycle,phenylalanine hydroxylation system1 MGI mutant phenotype (inferred from 2 alleles ) (MGI details for Qdpr):
4 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for QDPR
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| 3 Sigma-Aldrich "Your Favorite Gene" Pathways for QDPR (Your Favorite Gene powered by Ingenuity) 
5/14 Interacting proteins for QDPR (ENSP000002812433) via UniProtKB, MINT, and/or STRING (see all 14
)About this table
5 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for QDPR(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for QDPR 10/31 Novoseek chemical compound relationships for QDPR gene (see all 31
)
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| dihydropteridine |
99.32 |
214 |
12956422 (4), 2116088 (4), 1861459 (4), 9796752 (3) (see all 99) |
| 6-pyruvoyltetrahydropterin |
94.40 |
20 |
16917893 (2), 1754298 (1), 11694255 (1), 12003346 (1) (see all 13) |
| 7-biopterin |
89.03 |
2 |
7923811 (1) |
| ryanodine |
88.12 |
47 |
11412150 (2), 15505226 (2), 8755610 (1), 10760701 (1) (see all 39) |
| pterin |
86.08 |
22 |
12956422 (2), 1754298 (1), 1289568 (1), 8819618 (1) (see all 12) |
| sepiapterin |
81.75 |
14 |
16917893 (2), 12003346 (1), 17188538 (1), 2039522 (1) (see all 7) |
| dihydrobiopterin |
79.74 |
5 |
1956581 (1), 7609464 (1), 11153907 (1) |
| pteridine |
78.72 |
7 |
1886401 (1), 10484807 (1), 16116247 (1), 2039522 (1) (see all 7) |
| 6-biopterin |
77.45 |
1 |
7945390 (1) |
| phenylalanine |
77.18 |
35 |
2069475 (2), 8433887 (2), 1754298 (1), 1289568 (1) (see all 17) |
About this table
|
Transcripts for QDPR(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|                OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): BC000576
Sigma-Aldrich siRNA and siRNA Panels for QDPR  Sigma-Aldrich shRNA for QDPR  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000320 REFSEQ mRNAs for QDPR gene: NM_000320.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000320               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000320                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000320                                  untagged cDNA clones in CMV expression vector (see all 2): BC000576  Additional cDNA sequence: AK094546.1 AK095167.1 AK124382.1 AK124952.1 AK223437.1 AK289773.1 AK296622.1 BC000576.2 BC036878.1 CR591242.1 CR595211.1 CR596771.1 CR602964.1 CR608945.1 CR614918.1 CR617908.1 CR622555.1 CR624599.1 M16447.1 X04882.1 24/32 DOTS entries (see all 32
): DT.316605 DT.40250555 DT.100824314 DT.100824324 DT.86854894 DT.92449037 DT.100021950 DT.92449039 DT.121240196 DT.95250989 DT.100824315 DT.121255922 DT.95236053 DT.100824306 DT.100824310 DT.121240152 DT.99968607 DT.121240128 DT.100824320 DT.100824323 DT.70102666 DT.121240155 DT.95185917 DT.95185953 24/451 AceView cDNA sequences (see all 451
):BF971916 BU788153 BE046197 BU162546 BU158225 BM710428 BM797202 BI711698 BM760507 BF971542 CA942431 AI144281 BG752102 CR595211 BQ643721 BU727827 BU553814 CR602964 CA868592 BQ267353 CA443385 CR624599 BQ879051 AA488323
highest scoring ESTs for QDPR:M16447 AA057300 AW328417 AW607121 BC000576 BE254566 BE255699 BE255723 BE261182 BE263218 Unigene Cluster for QDPR: Quinoid dihydropteridine reductase Hs.75438 [show with all ESTs]Unigene Representative Sequence: AK124952
GeneLoc Exon Structure
5/13 Alternative Splicing Database (ASD) splice patterns (SP) for QDPR (see all 13
)
| 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: | |   | |   | |   | |   | - |   | - |   | - |   | |   | |   | - |   | |   | |   | - |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for QDPR
1 Ensembl transcript including schematic representation: ENST00000281243
|
Expression for QDPR
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| QDPR expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for QDPR
1 / 2 / 3 3 probe-sets matching QDPR gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: GATTGCTGGA
SOURCE GeneReport for Unigene cluster: Hs.75438
Expression variation in blood from EXPOLDB for QDPR |
Orthologs for QDPR
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for QDPR gene from 5/14 species (see all 14
)
About this table Species with no ortholog for QDPR
ENSEMBL Gene Tree for QDPR | Paralogs for QDPR(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| -- |
SNPs/Variants for QDPR(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for QDPR (up to first 250kb)
|
Disorders & Mutations for QDPR
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 612676 disorders: 261630 UniProtKB/Swiss-Prot: DHPR_HUMAN, P09417
Defects in QDPR are the cause of phenylketonuria II (PK2) [MIM:261630]; also known as dihydropteridine reductase deficiency. PK2 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. PK2 is lethal if untreated10/17 Novoseek disease relationships for QDPR gene (see all 17
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| hyperphenylalaninemia |
94.84 |
21 |
10384371 (1), 12003346 (1), 14705166 (1), 9075022 (1) (see all 16) |
| phenylketonuria atypical |
84.51 |
2 |
7760062 (1), 12637773 (1) |
| phenylketonuria classical |
80.97 |
6 |
8819618 (1), 16767663 (1), 8222274 (1), 8404969 (1) |
| phenylketonurias |
80.05 |
9 |
1754298 (1), 1289568 (1), 8819618 (1), 1745643 (1) (see all 8) |
| gtp cyclohydrolase i deficiency |
76.56 |
2 |
16275037 (1), 8830181 (1) |
| enzyme deficiency |
53.54 |
1 |
12003346 (1) |
| hypokalemic periodic paralysis |
48.16 |
2 |
10944223 (1), 15336973 (1) |
| mental retardation |
36.70 |
2 |
19099731 (1) |
| myopathy |
19.62 |
2 |
9199776 (1), 15336973 (1) |
| vitiligo |
18.61 |
2 |
15009710 (2) |
About this table
Genatlas disease: QDPR hyperphenylalaninemia,malignant phenylketonuria with neurologic deterioration Human Gene Mutation Database: QDPR Human Genome Epidemiology Navigator: QDPR (1 document)
|
Medical News for QDPR(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for QDPR (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/227 PubMed articles for QDPR gene (see all 227
):- Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE). (PubMed id 11153907)1, 3, 4 Romstad A.... Guettler F. (2000)
- Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations. (PubMed id 9744478)1, 3, 4 Dianzani I.... Cotton R.G.H. (1998)
- A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. (PubMed id 10408783)1, 3, 4 Smooker P.M....Dianzani I. (1999)
- Molecular basis of dihydropteridine reductase deficiency. (PubMed id 7627180)1, 3, 4 Smooker P.M. and Cotton R.G.H. (1995)
- Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency. (PubMed id 2116088)1, 3, 4 Howells D.W.... Cotton R.G.H. (1990)
- Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency. (PubMed id 8326489)1, 3, 4 Dianzani I....Cotton R.G.H. (1993)
- 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, 3, 4 Su Y....Whiteley J.M. (1993)
- The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)2, 3 Persson B....Oppermann U. (2008)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency. (PubMed id 3031582)3, 4 Dahl H.-H.M....Cotton R.G.H. (1987)
|
Search for QDPR
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing QDPR
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing QDPR
(According to HUGE)
About This Section
| -- |
Specialized Databases showing QDPR(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| BIOMDB | http://www.bh4.org/biodef1.html | | GeneReviews | http://www.genetests.org/query?gene=QDPR |
|
| | | About This Section
| --
| Services for QDPR(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for QDPR:

 | |
 | | | | |
|
 |  |  |
| | Recombinant Proteins (QDPR) | | Antibodies (QDPR) |
| | | Search Tocris compounds for QDPR |
|
 |
 | | | |
GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009
|