Details for: QDPR

Gene ID: 5860

Symbol: QDPR

Ensembl ID: ENSG00000151552

Description: quinoid dihydropteridine reductase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 202.9635
    Cell Significance Index: -31.5700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 109.5239
    Cell Significance Index: -27.7800
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 86.1517
    Cell Significance Index: -35.4900
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 72.2905
    Cell Significance Index: -34.1300
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 69.9311
    Cell Significance Index: -28.4100
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 63.8043
    Cell Significance Index: -32.8200
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 50.9372
    Cell Significance Index: -34.1800
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 30.2595
    Cell Significance Index: -28.8900
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 27.2759
    Cell Significance Index: -33.6300
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 11.0364
    Cell Significance Index: -29.5700
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 10.4771
    Cell Significance Index: -32.1800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 8.7379
    Cell Significance Index: -34.4800
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 3.7261
    Cell Significance Index: -8.1600
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.7926
    Cell Significance Index: 107.6200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 1.5001
    Cell Significance Index: 78.1400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.2800
    Cell Significance Index: 59.6800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.2315
    Cell Significance Index: 64.6600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.2128
    Cell Significance Index: 243.2900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.1979
    Cell Significance Index: 194.8200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.8457
    Cell Significance Index: 98.5600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.7195
    Cell Significance Index: 142.7900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.6311
    Cell Significance Index: 226.3600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.5709
    Cell Significance Index: 19.8400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.5360
    Cell Significance Index: 23.7100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.5321
    Cell Significance Index: 101.2700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5014
    Cell Significance Index: 49.6000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.4900
    Cell Significance Index: 32.9500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.4603
    Cell Significance Index: 34.3100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.4513
    Cell Significance Index: 17.0900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.4410
    Cell Significance Index: 9.2300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.4075
    Cell Significance Index: 55.9600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.3617
    Cell Significance Index: 46.3700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.3402
    Cell Significance Index: 185.7900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.3261
    Cell Significance Index: 15.3300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3028
    Cell Significance Index: 6.5600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.2750
    Cell Significance Index: 7.2300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2656
    Cell Significance Index: 117.4200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.2182
    Cell Significance Index: 28.1900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1938
    Cell Significance Index: 23.8400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1770
    Cell Significance Index: 30.2300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1662
    Cell Significance Index: 29.9600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.1118
    Cell Significance Index: 6.8700
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0771
    Cell Significance Index: 4.8600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0666
    Cell Significance Index: 3.7400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0638
    Cell Significance Index: 2.0500
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.0606
    Cell Significance Index: 1.6200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0448
    Cell Significance Index: 3.1700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0442
    Cell Significance Index: 33.4200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0133
    Cell Significance Index: 24.9600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0119
    Cell Significance Index: 0.6200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0070
    Cell Significance Index: 4.8300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0020
    Cell Significance Index: -2.7200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0044
    Cell Significance Index: -3.2800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0074
    Cell Significance Index: -4.6000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0075
    Cell Significance Index: -5.4900
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: -0.0112
    Cell Significance Index: -0.1200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0128
    Cell Significance Index: -19.7700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0153
    Cell Significance Index: -28.2600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0246
    Cell Significance Index: -15.6300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0282
    Cell Significance Index: -0.7600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0291
    Cell Significance Index: -2.9700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0402
    Cell Significance Index: -22.6500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0535
    Cell Significance Index: -24.2800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0545
    Cell Significance Index: -11.4800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0603
    Cell Significance Index: -1.0100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0651
    Cell Significance Index: -1.8200
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0838
    Cell Significance Index: -2.3900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0940
    Cell Significance Index: -7.2200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0961
    Cell Significance Index: -27.6400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1015
    Cell Significance Index: -14.7600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1095
    Cell Significance Index: -12.5500
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1280
    Cell Significance Index: -8.2600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1584
    Cell Significance Index: -18.6800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1614
    Cell Significance Index: -5.6700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1747
    Cell Significance Index: -3.7200
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1875
    Cell Significance Index: -4.7900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.1979
    Cell Significance Index: -8.9700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2302
    Cell Significance Index: -18.2400
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2448
    Cell Significance Index: -27.9400
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.2814
    Cell Significance Index: -4.7400
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.2887
    Cell Significance Index: -8.4800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3217
    Cell Significance Index: -33.5000
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.3407
    Cell Significance Index: -2.7200
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: -0.3691
    Cell Significance Index: -2.8400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.3982
    Cell Significance Index: -10.8400
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.4324
    Cell Significance Index: -10.3700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4618
    Cell Significance Index: -28.3200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.5193
    Cell Significance Index: -8.9000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.5248
    Cell Significance Index: -7.1600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.5359
    Cell Significance Index: -14.3100
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.5504
    Cell Significance Index: -8.3000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.5531
    Cell Significance Index: -16.2900
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.5603
    Cell Significance Index: -8.2700
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.6112
    Cell Significance Index: -14.1200
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.6417
    Cell Significance Index: -13.6200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.6426
    Cell Significance Index: -20.4700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.6674
    Cell Significance Index: -21.8500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.6929
    Cell Significance Index: -17.8100
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.7204
    Cell Significance Index: -8.9400
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.7336
    Cell Significance Index: -25.7000

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** QDPR is a flavoprotein, meaning it contains a flavin group, which is essential for its enzymatic activity. This enzyme is specifically involved in the reduction of quinoid dihydropteridine to tetrahydrobiopterin. QDPR is predominantly expressed in cells of the central nervous system, including oligodendrocytes, and peripheral nervous system neurons. Its expression is also observed in various epithelial cells, such as those lining the proximal tubule of the kidney. **Pathways and Functions:** QDPR is a key player in several metabolic pathways, including: 1. **Dihydrobiopterin metabolic process**: QDPR is responsible for recycling BH4, a cofactor essential for NOS activity and nitric oxide production. 2. **Electron transfer activity**: QDPR participates in the electron transfer chain, facilitating the reduction of quinoid dihydropteridine to BH4. 3. **Phenylalanine and tyrosine metabolism**: QDPR is involved in the catabolic process of these amino acids, converting them into intermediates that can be converted to BH4. 4. **Electron transport chain**: QDPR contributes to the electron transport chain, playing a role in the generation of ATP and the maintenance of cellular redox balance. **Clinical Significance:** Dysregulation of QDPR has been implicated in various human diseases, including: 1. **Neurodegenerative disorders**: Mutations in the gene encoding QDPR have been associated with neurodegenerative diseases, such as Parkinson's disease and Alzheimer's disease. 2. **Immunological disorders**: Abnormalities in BH4 recycling due to QDPR dysfunction have been linked to immunological disorders, including autoimmune diseases and immunodeficiency. 3. **Cancer**: Altered expression of QDPR has been observed in various types of cancer, suggesting its potential role in tumorigenesis and cancer progression. In conclusion, QDPR is a critical enzyme involved in the biosynthesis and recycling of tetrahydrobiopterin, playing a pivotal role in various cellular processes. Its dysregulation has been implicated in several human diseases, highlighting the importance of further research into the molecular mechanisms of QDPR and its potential therapeutic applications.

Genular Protein ID: 3067739297

Symbol: DHPR_HUMAN

Name: Dihydropteridine reductase

UniProtKB Accession Codes:

P09417 A8K158 B3KW71 Q53F52 Q9H3M5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 11 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 EC 2 EMBL 17 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 11 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIR 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 1 RefSeq 2 Rhea 4 SABIO-RK 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 3031582

Title: Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency.

PubMed ID: 3031582

DOI: 10.1093/nar/15.5.1921

PubMed ID: 3033643

Title: Structure and expression of human dihydropteridine reductase.

PubMed ID: 3033643

DOI: 10.1073/pnas.84.10.3329

PubMed ID: 9744478

Title: Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations.

PubMed ID: 9744478

DOI: 10.1002/(sici)1098-1004(1998)12:4<267::aid-humu8>3.0.co;2-c

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 8262916

Title: 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

DOI: 10.2210/pdb1hdr/pdb

PubMed ID: 7627180

Title: Molecular basis of dihydropteridine reductase deficiency.

PubMed ID: 7627180

DOI: 10.1002/humu.1380050402

PubMed ID: 8326489

Title: Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency.

PubMed ID: 8326489

DOI: 10.1136/jmg.30.6.465

PubMed ID: 2116088

Title: Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency.

PubMed ID: 2116088

PubMed ID: 10408783

Title: A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects.

PubMed ID: 10408783

DOI: 10.1002/(sici)1098-1004(1999)13:6<503::aid-humu13>3.0.co;2-f

PubMed ID: 11153907

Title: Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE).

PubMed ID: 11153907

DOI: 10.1007/s004390000407

Sequence Information:

  • Length: 244
  • Mass: 25790
  • Checksum: 0852F9F0CA38AB1C
  • Sequence:
    • MAAAAAAGEA RRVLVYGGRG ALGSRCVQAF RARNWWVASV DVVENEEASA SIIVKMTDSF 
TEQADQVTAE VGKLLGEEKV DAILCVAGGW AGGNAKSKSL FKNCDLMWKQ SIWTSTISSH 
LATKHLKEGG LLTLAGAKAA LDGTPGMIGY GMAKGAVHQL CQSLAGKNSG MPPGAAAIAV 
LPVTLDTPMN RKSMPEADFS SWTPLEFLVE TFHDWITGKN RPSSGSLIQV VTTEGRTELT 
PAYF

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.