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Protein

Dihydropteridine reductase

Gene

QDPR

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

The product of this enzyme, tetrahydrobiopterin (BH-4), is an essential cofactor for phenylalanine, tyrosine, and tryptophan hydroxylases.

Catalytic activityi

A 5,6,7,8-tetrahydropteridine + NAD(P)+ = a 6,7-dihydropteridine + NAD(P)H.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei150Proton acceptor1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi14 – 38NADPAdd BLAST25

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionOxidoreductase
Biological processTetrahydrobiopterin biosynthesis
LigandNADP

Enzyme and pathway databases

BioCyciMetaCyc:HS07746-MONOMER
BRENDAi1.5.1.34 2681
ReactomeiR-HSA-71182 Phenylalanine and tyrosine catabolism
SABIO-RKiP09417

Names & Taxonomyi

Protein namesi
Recommended name:
Dihydropteridine reductase (EC:1.5.1.34)
Alternative name(s):
HDHPR
Quinoid dihydropteridine reductase
Short chain dehydrogenase/reductase family 33C member 1
Gene namesi
Name:QDPR
Synonyms:DHPR, SDR33C1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000151552.11
HGNCiHGNC:9752 QDPR
MIMi612676 gene
neXtProtiNX_P09417

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionRare 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.
See also OMIM:261630
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00812114L → P in HPABH4C; severe. 1 PublicationCorresponds to variant dbSNP:rs756639609Ensembl.1
Natural variantiVAR_02176717G → R in HPABH4C; severe. 1 PublicationCorresponds to variant dbSNP:rs757483045Ensembl.1
Natural variantiVAR_00812217G → V in HPABH4C; severe. 1 Publication1
Natural variantiVAR_02176818G → D in HPABH4C; severe. 1 Publication1
Natural variantiVAR_00696023G → D in HPABH4C; severe. 3 PublicationsCorresponds to variant dbSNP:rs104893863EnsemblClinVar.1
Natural variantiVAR_00696136W → R in HPABH4C. Corresponds to variant dbSNP:rs104893865EnsemblClinVar.1
Natural variantiVAR_02176966Q → R in HPABH4C; severe. 1 Publication1
Natural variantiVAR_00696274L → P in HPABH4C. 1
Natural variantiVAR_006963108W → G in HPABH4C. 1 PublicationCorresponds to variant dbSNP:rs104893864EnsemblClinVar.1
Natural variantiVAR_006964123T → TT in HPABH4C. 1 Publication1
Natural variantiVAR_006965145P → L in HPABH4C. 1
Natural variantiVAR_021770149G → R in HPABH4C. 1 PublicationCorresponds to variant dbSNP:rs1028029163Ensembl.1
Natural variantiVAR_006966150Y → C in HPABH4C; mild. 2 PublicationsCorresponds to variant dbSNP:rs104893866EnsemblClinVar.1
Natural variantiVAR_006967151G → S in HPABH4C; mild. 1
Natural variantiVAR_006968158H → Y in HPABH4C; severe. 1 PublicationCorresponds to variant dbSNP:rs750201480EnsemblClinVar.1
Natural variantiVAR_006969170G → S in HPABH4C. Corresponds to variant dbSNP:rs769460415Ensembl.1
Natural variantiVAR_006970212F → C in HPABH4C; mild. 1
Natural variantiVAR_006971218G → GITG in HPABH4C; mild. 1

Keywords - Diseasei

Disease mutation, Phenylketonuria

Organism-specific databases

DisGeNETi5860
MalaCardsiQDPR
MIMi261630 phenotype
OpenTargetsiENSG00000151552
Orphaneti226 Dihydropteridine reductase deficiency
PharmGKBiPA34094

Chemistry databases

ChEMBLiCHEMBL3730
DrugBankiDB03814 2-(N-Morpholino)-Ethanesulfonic Acid
DB00157 NADH

Polymorphism and mutation databases

BioMutaiQDPR
DMDMi118572639

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources1 Publication
ChainiPRO_00000546362 – 244Dihydropteridine reductaseAdd BLAST243

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1 Publication1
Modified residuei73N6-succinyllysineBy similarity1
Modified residuei79N6-succinyllysineBy similarity1
Modified residuei96N6-succinyllysineBy similarity1
Modified residuei102N6-succinyllysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiP09417
MaxQBiP09417
PaxDbiP09417
PeptideAtlasiP09417
PRIDEiP09417
ProteomicsDBi52216

2D gel databases

REPRODUCTION-2DPAGEiIPI00014439
UCD-2DPAGEiP09417

PTM databases

iPTMnetiP09417
PhosphoSitePlusiP09417

Expressioni

Gene expression databases

BgeeiENSG00000151552
CleanExiHS_QDPR
ExpressionAtlasiP09417 baseline and differential
GenevisibleiP09417 HS

Organism-specific databases

HPAiHPA058951
HPA065649

Interactioni

Subunit structurei

Homodimer.

GO - Molecular functioni

Protein-protein interaction databases

BioGridi111798, 26 interactors
IntActiP09417, 4 interactors
MINTiP09417
STRINGi9606.ENSP00000281243

Chemistry databases

BindingDBiP09417

Structurei

Secondary structure

1244
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi11 – 16Combined sources6
Turni17 – 19Combined sources3
Helixi21 – 32Combined sources12
Beta strandi36 – 43Combined sources8
Beta strandi48 – 53Combined sources6
Helixi60 – 75Combined sources16
Beta strandi80 – 85Combined sources6
Helixi100 – 110Combined sources11
Helixi112 – 125Combined sources14
Beta strandi126 – 135Combined sources10
Helixi138 – 141Combined sources4
Helixi148 – 165Combined sources18
Beta strandi176 – 181Combined sources6
Helixi188 – 191Combined sources4
Helixi199 – 201Combined sources3
Helixi205 – 216Combined sources12
Turni217 – 220Combined sources4
Beta strandi227 – 233Combined sources7
Beta strandi236 – 242Combined sources7

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1HDRX-ray2.50A1-244[»]
ProteinModelPortaliP09417
SMRiP09417
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP09417

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG4022 Eukaryota
ENOG4111D6J LUCA
GeneTreeiENSGT00390000000470
HOGENOMiHOG000232194
HOVERGENiHBG001000
InParanoidiP09417
KOiK00357
OMAiNRKSMPD
OrthoDBiEOG091G0ILG
PhylomeDBiP09417
TreeFamiTF105932

Family and domain databases

InterProiView protein in InterPro
IPR036291 NAD(P)-bd_dom_sf
IPR020904 Sc_DH/Rdtase_CS
IPR002347 SDR_fam
PfamiView protein in Pfam
PF00106 adh_short, 1 hit
SUPFAMiSSF51735 SSF51735, 1 hit
PROSITEiView protein in PROSITE
PS00061 ADH_SHORT, 1 hit

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P09417-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAAAAAAGEA RRVLVYGGRG ALGSRCVQAF RARNWWVASV DVVENEEASA
60 70 80 90 100
SIIVKMTDSF TEQADQVTAE VGKLLGEEKV DAILCVAGGW AGGNAKSKSL
110 120 130 140 150
FKNCDLMWKQ SIWTSTISSH LATKHLKEGG LLTLAGAKAA LDGTPGMIGY
160 170 180 190 200
GMAKGAVHQL CQSLAGKNSG MPPGAAAIAV LPVTLDTPMN RKSMPEADFS
210 220 230 240
SWTPLEFLVE TFHDWITGKN RPSSGSLIQV VTTEGRTELT PAYF
Length:244
Mass (Da):25,790
Last modified:November 28, 2006 - v2
Checksum:i0852F9F0CA38AB1C
GO
Isoform 2 (identifier: P09417-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     36-66: Missing.

Note: No experimental confirmation available.
Show »
Length:213
Mass (Da):22,408
Checksum:i042BEB8C3F313C20
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00812114L → P in HPABH4C; severe. 1 PublicationCorresponds to variant dbSNP:rs756639609Ensembl.1
Natural variantiVAR_02176717G → R in HPABH4C; severe. 1 PublicationCorresponds to variant dbSNP:rs757483045Ensembl.1
Natural variantiVAR_00812217G → V in HPABH4C; severe. 1 Publication1
Natural variantiVAR_02176818G → D in HPABH4C; severe. 1 Publication1
Natural variantiVAR_00696023G → D in HPABH4C; severe. 3 PublicationsCorresponds to variant dbSNP:rs104893863EnsemblClinVar.1
Natural variantiVAR_00696136W → R in HPABH4C. Corresponds to variant dbSNP:rs104893865EnsemblClinVar.1
Natural variantiVAR_01302751S → T3 Publications1
Natural variantiVAR_02176966Q → R in HPABH4C; severe. 1 Publication1
Natural variantiVAR_00696274L → P in HPABH4C. 1
Natural variantiVAR_006963108W → G in HPABH4C. 1 PublicationCorresponds to variant dbSNP:rs104893864EnsemblClinVar.1
Natural variantiVAR_006964123T → TT in HPABH4C. 1 Publication1
Natural variantiVAR_006965145P → L in HPABH4C. 1
Natural variantiVAR_021770149G → R in HPABH4C. 1 PublicationCorresponds to variant dbSNP:rs1028029163Ensembl.1
Natural variantiVAR_006966150Y → C in HPABH4C; mild. 2 PublicationsCorresponds to variant dbSNP:rs104893866EnsemblClinVar.1
Natural variantiVAR_006967151G → S in HPABH4C; mild. 1
Natural variantiVAR_006968158H → Y in HPABH4C; severe. 1 PublicationCorresponds to variant dbSNP:rs750201480EnsemblClinVar.1
Natural variantiVAR_006969170G → S in HPABH4C. Corresponds to variant dbSNP:rs769460415Ensembl.1
Natural variantiVAR_006970212F → C in HPABH4C; mild. 1
Natural variantiVAR_006971218G → GITG in HPABH4C; mild. 1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05435636 – 66Missing in isoform 2. 1 PublicationAdd BLAST31

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X04882 mRNA Translation: CAA28571.1
M16447 mRNA Translation: AAA52305.1
AJ006239
, AJ006240, AJ006241, AJ006242, AJ006243, AJ006244, AJ006245 Genomic DNA Translation: CAA06930.1
AB053170 Genomic DNA Translation: BAB20429.1
AK124382 mRNA Translation: BAG54033.1
AK289773 mRNA Translation: BAF82462.1
AK223437 mRNA Translation: BAD97157.1
AC093600 Genomic DNA No translation available.
CH471069 Genomic DNA Translation: EAW92777.1
CH471069 Genomic DNA Translation: EAW92778.1
BC000576 mRNA Translation: AAH00576.1
CCDSiCCDS3421.1 [P09417-1]
CCDS77904.1 [P09417-2]
PIRiA93655 RDHUP
RefSeqiNP_000311.2, NM_000320.2 [P09417-1]
NP_001293069.1, NM_001306140.1 [P09417-2]
UniGeneiHs.75438

Genome annotation databases

EnsembliENST00000281243; ENSP00000281243; ENSG00000151552 [P09417-1]
ENST00000428702; ENSP00000390944; ENSG00000151552 [P09417-2]
GeneIDi5860
KEGGihsa:5860
UCSCiuc003gpd.4 human [P09417-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiDHPR_HUMAN
AccessioniPrimary (citable) accession number: P09417
Secondary accession number(s): A8K158
, B3KW71, Q53F52, Q9H3M5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: November 28, 2006
Last modified: June 20, 2018
This is version 199 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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