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Entry version 208 (16 Oct 2019)
Sequence version 2 (28 Nov 2006)
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Protein

Dihydropteridine reductase

Gene

QDPR

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei150Proton acceptor1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi14 – 38NADPAdd BLAST25

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionOxidoreductase
Biological processTetrahydrobiopterin biosynthesis
LigandNADP

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS07746-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
1.5.1.34 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-8964208 Phenylalanine metabolism

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
P09417

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:QDPR
Synonyms:DHPR, SDR33C1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 4

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:9752 QDPR

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
612676 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P09417

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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:rs757483045EnsemblClinVar.1
Natural variantiVAR_00812217G → V in HPABH4C; severe. 1 Publication1
Natural variantiVAR_02176818G → D in HPABH4C; severe. 1 PublicationCorresponds to variant dbSNP:rs1278371188Ensembl.1
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 PublicationCorresponds to variant dbSNP:rs1252488251Ensembl.1
Natural variantiVAR_00696274L → P in HPABH4C. Corresponds to variant dbSNP:rs1158304986Ensembl.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. Corresponds to variant dbSNP:rs777797545Ensembl.1
Natural variantiVAR_006971218G → GITG in HPABH4C; mild. 1

Keywords - Diseasei

Disease mutation, Phenylketonuria

Organism-specific databases

DisGeNET

More...
DisGeNETi
5860

MalaCards human disease database

More...
MalaCardsi
QDPR
MIMi261630 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000151552

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
226 Dihydropteridine reductase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA34094

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P09417

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3730

Drug and drug target database

More...
DrugBanki
DB03814 2-(N-Morpholino)-Ethanesulfonic Acid
DB00157 NADH

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
QDPR

Domain mapping of disease mutations (DMDM)

More...
DMDMi
118572639

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources1 Publication
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000546362 – 244Dihydropteridine reductaseAdd BLAST243

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

More...
EPDi
P09417

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P09417

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P09417

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P09417

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P09417

PeptideAtlas

More...
PeptideAtlasi
P09417

PRoteomics IDEntifications database

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PRIDEi
P09417

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
3780
52216 [P09417-1]

2D gel databases

REPRODUCTION-2DPAGE

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REPRODUCTION-2DPAGEi
IPI00014439

University College Dublin 2-DE Proteome Database

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UCD-2DPAGEi
P09417

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P09417

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P09417

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P09417

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000151552 Expressed in 227 organ(s), highest expression level in subthalamic nucleus

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P09417 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P09417 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA058951
HPA065649

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer.

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
111798, 27 interactors

Protein interaction database and analysis system

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IntActi
P09417, 5 interactors

Molecular INTeraction database

More...
MINTi
P09417

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000281243

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P09417

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1244
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P09417

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P09417

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4022 Eukaryota
ENOG4111D6J LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000000470

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000232194

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P09417

KEGG Orthology (KO)

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KOi
K00357

Identification of Orthologs from Complete Genome Data

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OMAi
SLYKNCD

Database of Orthologous Groups

More...
OrthoDBi
1585354at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P09417

TreeFam database of animal gene trees

More...
TreeFami
TF105932

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR036291 NAD(P)-bd_dom_sf
IPR020904 Sc_DH/Rdtase_CS
IPR002347 SDR_fam

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00106 adh_short, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF51735 SSF51735, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00061 ADH_SHORT, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B7Z415B7Z415_HUMAN
Dihydropteridine reductase
QDPR hCG_39606
152Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RGG7D6RGG7_HUMAN
Dihydropteridine reductase
QDPR
162Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RHJ7D6RHJ7_HUMAN
Dihydropteridine reductase
QDPR
36Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y8F7H0Y8F7_HUMAN
Dihydropteridine reductase
QDPR
128Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

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:rs757483045EnsemblClinVar.1
Natural variantiVAR_00812217G → V in HPABH4C; severe. 1 Publication1
Natural variantiVAR_02176818G → D in HPABH4C; severe. 1 PublicationCorresponds to variant dbSNP:rs1278371188Ensembl.1
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 PublicationCorresponds to variant dbSNP:rs1252488251Ensembl.1
Natural variantiVAR_00696274L → P in HPABH4C. Corresponds to variant dbSNP:rs1158304986Ensembl.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. Corresponds to variant dbSNP:rs777797545Ensembl.1
Natural variantiVAR_006971218G → GITG in HPABH4C; mild. 1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_05435636 – 66Missing in isoform 2. 1 PublicationAdd BLAST31

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS3421.1 [P09417-1]
CCDS77904.1 [P09417-2]

Protein sequence database of the Protein Information Resource

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PIRi
A93655 RDHUP

NCBI Reference Sequences

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RefSeqi
NP_000311.2, NM_000320.2 [P09417-1]
NP_001293069.1, NM_001306140.1 [P09417-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000281243; ENSP00000281243; ENSG00000151552 [P09417-1]
ENST00000428702; ENSP00000390944; ENSG00000151552 [P09417-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
5860

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:5860

UCSC genome browser

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UCSCi
uc003gpd.4 human [P09417-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1HDRX-ray2.50A1-244[»]
SMRiP09417
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi111798, 27 interactors
IntActiP09417, 5 interactors
MINTiP09417
STRINGi9606.ENSP00000281243

Chemistry databases

BindingDBiP09417
ChEMBLiCHEMBL3730
DrugBankiDB03814 2-(N-Morpholino)-Ethanesulfonic Acid
DB00157 NADH

PTM databases

iPTMnetiP09417
PhosphoSitePlusiP09417
SwissPalmiP09417

Polymorphism and mutation databases

BioMutaiQDPR
DMDMi118572639

2D gel databases

REPRODUCTION-2DPAGEiIPI00014439
UCD-2DPAGEiP09417

Proteomic databases

EPDiP09417
jPOSTiP09417
MassIVEiP09417
MaxQBiP09417
PaxDbiP09417
PeptideAtlasiP09417
PRIDEiP09417
ProteomicsDBi3780
52216 [P09417-1]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
5860

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
5860
DisGeNETi5860

GeneCards: human genes, protein and diseases

More...
GeneCardsi
QDPR
HGNCiHGNC:9752 QDPR
HPAiHPA058951
HPA065649
MalaCardsiQDPR
MIMi261630 phenotype
612676 gene
neXtProtiNX_P09417
OpenTargetsiENSG00000151552
Orphaneti226 Dihydropteridine reductase deficiency
PharmGKBiPA34094

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4022 Eukaryota
ENOG4111D6J LUCA
GeneTreeiENSGT00390000000470
HOGENOMiHOG000232194
InParanoidiP09417
KOiK00357
OMAiSLYKNCD
OrthoDBi1585354at2759
PhylomeDBiP09417
TreeFamiTF105932

Enzyme and pathway databases

BioCyciMetaCyc:HS07746-MONOMER
BRENDAi1.5.1.34 2681
ReactomeiR-HSA-8964208 Phenylalanine metabolism
SABIO-RKiP09417

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
QDPR human
EvolutionaryTraceiP09417

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
QDPR

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
5860
PharosiP09417

Protein Ontology

More...
PROi
PR:P09417

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000151552 Expressed in 227 organ(s), highest expression level in subthalamic nucleus
ExpressionAtlasiP09417 baseline and differential
GenevisibleiP09417 HS

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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDHPR_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P09417
Secondary accession number(s): A8K158
, B3KW71, Q53F52, Q9H3M5
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: November 28, 2006
Last modified: October 16, 2019
This is version 208 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

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

Documents

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