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UniProtKB - Q03393 (PTPS_HUMAN)

Protein

6-pyruvoyl tetrahydrobiopterin synthase

Gene

PTS

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

Involved in the biosynthesis of tetrahydrobiopterin, an essential cofactor of aromatic amino acid hydroxylases. Catalyzes the transformation of 7,8-dihydroneopterin triphosphate into 6-pyruvoyl tetrahydropterin.1 Publication

Miscellaneous

The active site is at the interface between 2 subunits. The proton acceptor Cys is on one subunit, and the charge relay system is on the other subunit.

<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

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Zn2+By similarityNote: Binds 1 zinc ion per subunit.By similarity

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=8.1 µM for 7,8-dihydroneopterin triphosphate1 Publication
  1. Vmax=120 nmol/min/mg enzyme1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: tetrahydrobiopterin biosynthesis

This protein is involved in step 1 of the subpathway that synthesizes tetrahydrobiopterin from 7,8-dihydroneopterin triphosphate.
Proteins known to be involved in the 3 steps of the subpathway in this organism are:
  1. 6-pyruvoyl tetrahydrobiopterin synthase (BQ8482_220178), 6-pyruvoyl tetrahydrobiopterin synthase (BQ8482_130070), 6-pyruvoyl tetrahydrobiopterin synthase (BQ8482_40019), 6-pyruvoyl tetrahydrobiopterin synthase (BQ8482_290038), 6-pyruvoyl tetrahydrobiopterin synthase (PTS)
  2. no protein annotated in this organism
  3. no protein annotated in this organism
This subpathway is part of the pathway tetrahydrobiopterin biosynthesis, which is itself part of Cofactor biosynthesis.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes tetrahydrobiopterin from 7,8-dihydroneopterin triphosphate, the pathway tetrahydrobiopterin biosynthesis and in Cofactor biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi24ZincPROSITE-ProRule annotation1
<p>This subsection of the ‘Function’ 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 sitei43Proton acceptorPROSITE-ProRule annotation1
Metal bindingi49ZincPROSITE-ProRule annotation1
Metal bindingi51ZincPROSITE-ProRule annotation1
Active sitei90Charge relay systemPROSITE-ProRule annotation1
Active sitei134Charge relay systemPROSITE-ProRule annotation1

<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

  • 6-pyruvoyltetrahydropterin synthase activity Source: GO_Central
  • identical protein binding Source: IntAct
  • metal ion binding Source: UniProtKB-KW
  • protein homodimerization activity Source: Ensembl
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<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 functionLyase
Biological processTetrahydrobiopterin biosynthesis
LigandMetal-binding, Zinc

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:HS07692-MONOMER

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		4.2.3.12 2681

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1474151 Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation

SABIO-RK: Biochemical Reaction Kinetics Database

More...SABIO-RKi		Q03393

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q03393

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...UniPathwayi
UPA00849;UER00819

<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:
6-pyruvoyl tetrahydrobiopterin synthase (EC:4.2.3.12)
Short name:
PTP synthase
Short name:
PTPS
<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:PTS
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000150787.7

Human Gene Nomenclature Database

More...HGNCi		HGNC:9689 PTS

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		612719 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q03393

<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; 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, A (HPABH4A)12 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits. Neurological symptoms are unresponsive to the classic phenylalanine-low diet.
See also OMIM:261640
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_00681616R → C in HPABH4A; severe decrease in activity; diminishes phosphorylation by PKG. 3 PublicationsCorresponds to variant dbSNP:rs104894274EnsemblClinVar.1
Natural variantiVAR_00681725R → G in HPABH4A; severe form. 1 Publication1
Natural variantiVAR_00681825R → Q in HPABH4A; abolishes activity; no effect on phosphorylation by PKG. 3 PublicationsCorresponds to variant dbSNP:rs104894273EnsemblClinVar.1
Natural variantiVAR_05826526L → F in HPABH4A. 1 Publication1
Natural variantiVAR_00681935E → G in HPABH4A. Corresponds to variant dbSNP:rs1328320990Ensembl.1
Natural variantiVAR_00682036N → K in HPABH4A. Corresponds to variant dbSNP:rs1449216377Ensembl.1
Natural variantiVAR_00804047N → D in HPABH4A; transient phenotype due to partial PTS deficiency; the patient is compound heterozygote for D-47 and G-116; total loss of activity. 1 PublicationCorresponds to variant dbSNP:rs104894278EnsemblClinVar.1
Natural variantiVAR_00682152N → S in HPABH4A; severe form; common in Chinese population. 2 PublicationsCorresponds to variant dbSNP:rs104894275EnsemblClinVar.1
Natural variantiVAR_00682256V → M in HPABH4A; mild form. 1 PublicationCorresponds to variant dbSNP:rs104894277EnsemblClinVar.1
Natural variantiVAR_00682357Missing in HPABH4A. 3 Publications1
Natural variantiVAR_00682467T → M in HPABH4A. 2 PublicationsCorresponds to variant dbSNP:rs370340361EnsemblClinVar.1
Natural variantiVAR_00682570V → D in HPABH4A. 1 Publication1
Natural variantiVAR_00682687P → L in HPABH4A. 2 PublicationsCorresponds to variant dbSNP:rs765406631EnsemblClinVar.1
Natural variantiVAR_00682787P → S in HPABH4A; severe form; common in Chinese population. 2 PublicationsCorresponds to variant dbSNP:rs104894276EnsemblClinVar.1
Natural variantiVAR_00682896D → N in HPABH4A; severe form. 1 PublicationCorresponds to variant dbSNP:rs104894280EnsemblClinVar.1
Natural variantiVAR_05826697V → M in HPABH4A. 1 PublicationCorresponds to variant dbSNP:rs750455879EnsemblClinVar.1
Natural variantiVAR_05826799Y → C in HPABH4A. 1 Publication1
Natural variantiVAR_006829100F → V in HPABH4A. 1
Natural variantiVAR_006830106T → M in HPABH4A. 1 PublicationCorresponds to variant dbSNP:rs200712908EnsemblClinVar.1
Natural variantiVAR_006831114I → V in HPABH4A. 2 Publications1
Natural variantiVAR_008041116D → G in HPABH4A; transient phenotype due to partial PTS deficiency; the patient is compound heterozygote for D-47 and G-116; mild decrease of activity. 1 PublicationCorresponds to variant dbSNP:rs104894279EnsemblClinVar.1
Natural variantiVAR_058268124V → L in HPABH4A. 1 PublicationCorresponds to variant dbSNP:rs150726932EnsemblClinVar.1
Natural variantiVAR_006832129K → E in HPABH4A. 1 PublicationCorresponds to variant dbSNP:rs1040441824Ensembl.1
Natural variantiVAR_058269136D → G in HPABH4A. 1 Publication1
Natural variantiVAR_006833136D → V in HPABH4A. 2 Publications1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi19S → A: Decrease in activity; abolishes phosphorylation by PKG. 1 Publication1

Keywords - Diseasei

Disease mutation, Phenylketonuria

Organism-specific databases

DisGeNET

More...DisGeNETi		5805

MalaCards human disease database

More...MalaCardsi		PTS
MIMi261640 phenotype

Open Targets

More...OpenTargetsi		ENSG00000150787

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

More...Orphaneti		13 6-pyruvoyl-tetrahydropterin synthase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA34032

Chemistry databases

Drug and drug target database

More...DrugBanki		DB03886 Biopterin

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PTS

<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 ‘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_00000579141 – 1456-pyruvoyl tetrahydrobiopterin synthaseAdd BLAST145

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 residuei19Phosphoserine; by PKGCombined sources1 Publication1
Modified residuei28PhosphoserineBy similarity1
Modified residuei128PhosphotyrosineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylation of Ser-19 is required for maximal enzyme activity.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q03393

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q03393

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

More...PaxDbi		Q03393

PeptideAtlas

More...PeptideAtlasi		Q03393

PRoteomics IDEntifications database

More...PRIDEi		Q03393

ProteomicsDB human proteome resource

More...ProteomicsDBi		58205

Consortium for Top Down Proteomics

More...TopDownProteomicsi		Q03393

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q03393

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

More...PhosphoSitePlusi		Q03393

<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		ENSG00000150787 Expressed in 233 organ(s), highest expression level in metanephros

CleanEx database of gene expression profiles

More...CleanExi		HS_PTS

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q03393 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q03393 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA001481

<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

Homohexamer formed of two homotrimers in a head to head fashion.

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		111769, 24 interactors

Protein interaction database and analysis system

More...IntActi		Q03393, 10 interactors

Molecular INTeraction database

More...MINTi		Q03393

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000280362

<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

1145
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		Q03393

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

More...SMRi		Q03393

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q03393

<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

Belongs to the PTPS family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4105 Eukaryota
COG0720 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000002752

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000225069

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG004358

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q03393

KEGG Orthology (KO)

More...KOi		K01737

Identification of Orthologs from Complete Genome Data

More...OMAi		NIAVVIW

Database of Orthologous Groups

More...OrthoDBi		EOG091G0TKH

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q03393

TreeFam database of animal gene trees

More...TreeFami		TF105796

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.30.479.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR007115 6-PTP_synth/QueD
IPR038418 6-PTP_synth/QueD_sf
IPR022470 PTPS_Cys_AS
IPR022469 PTPS_His_AS

The PANTHER Classification System

More...PANTHERi		PTHR12589 PTHR12589, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01242 PTPS, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF006113 PTP_synth, 1 hit

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR00039 6PTHBS, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00987 PTPS_1, 1 hit
PS00988 PTPS_2, 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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)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.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

Q03393-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSTEGGGRRC QAQVSRRISF SASHRLYSKF LSDEENLKLF GKCNNPNGHG 
        60         70         80         90        100
HNYKVVVTVH GEIDPATGMV MNLADLKKYM EEAIMQPLDH KNLDMDVPYF 
       110        120        130        140 
ADVVSTTENV AVYIWDNLQK VLPVGVLYKV KVYETDNNIV VYKGE
Length:145
Mass (Da):16,386
Last modified:October 1, 1993 - v1
<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:iA1CD0DC2F83187E0
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PJM0E9PJM0_HUMAN
6-pyruvoyl tetrahydrobiopterin synt...
PTS
61Annotation 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>
E9PNN3E9PNN3_HUMAN
6-pyruvoyl tetrahydrobiopterin synt...
PTS
77Annotation 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>
E9PKY8E9PKY8_HUMAN
6-pyruvoyl tetrahydrobiopterin synt...
PTS
55Annotation 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>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti114I → M in AAH18029 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00681616R → C in HPABH4A; severe decrease in activity; diminishes phosphorylation by PKG. 3 PublicationsCorresponds to variant dbSNP:rs104894274EnsemblClinVar.1
Natural variantiVAR_00681725R → G in HPABH4A; severe form. 1 Publication1
Natural variantiVAR_00681825R → Q in HPABH4A; abolishes activity; no effect on phosphorylation by PKG. 3 PublicationsCorresponds to variant dbSNP:rs104894273EnsemblClinVar.1
Natural variantiVAR_05826526L → F in HPABH4A. 1 Publication1
Natural variantiVAR_00681935E → G in HPABH4A. Corresponds to variant dbSNP:rs1328320990Ensembl.1
Natural variantiVAR_00682036N → K in HPABH4A. Corresponds to variant dbSNP:rs1449216377Ensembl.1
Natural variantiVAR_00804047N → D in HPABH4A; transient phenotype due to partial PTS deficiency; the patient is compound heterozygote for D-47 and G-116; total loss of activity. 1 PublicationCorresponds to variant dbSNP:rs104894278EnsemblClinVar.1
Natural variantiVAR_00682152N → S in HPABH4A; severe form; common in Chinese population. 2 PublicationsCorresponds to variant dbSNP:rs104894275EnsemblClinVar.1
Natural variantiVAR_00682256V → M in HPABH4A; mild form. 1 PublicationCorresponds to variant dbSNP:rs104894277EnsemblClinVar.1
Natural variantiVAR_00682357Missing in HPABH4A. 3 Publications1
Natural variantiVAR_00682467T → M in HPABH4A. 2 PublicationsCorresponds to variant dbSNP:rs370340361EnsemblClinVar.1
Natural variantiVAR_00682570V → D in HPABH4A. 1 Publication1
Natural variantiVAR_00682687P → L in HPABH4A. 2 PublicationsCorresponds to variant dbSNP:rs765406631EnsemblClinVar.1
Natural variantiVAR_00682787P → S in HPABH4A; severe form; common in Chinese population. 2 PublicationsCorresponds to variant dbSNP:rs104894276EnsemblClinVar.1
Natural variantiVAR_00682896D → N in HPABH4A; severe form. 1 PublicationCorresponds to variant dbSNP:rs104894280EnsemblClinVar.1
Natural variantiVAR_05826697V → M in HPABH4A. 1 PublicationCorresponds to variant dbSNP:rs750455879EnsemblClinVar.1
Natural variantiVAR_05826799Y → C in HPABH4A. 1 Publication1
Natural variantiVAR_006829100F → V in HPABH4A. 1
Natural variantiVAR_006830106T → M in HPABH4A. 1 PublicationCorresponds to variant dbSNP:rs200712908EnsemblClinVar.1
Natural variantiVAR_006831114I → V in HPABH4A. 2 Publications1
Natural variantiVAR_008041116D → G in HPABH4A; transient phenotype due to partial PTS deficiency; the patient is compound heterozygote for D-47 and G-116; mild decrease of activity. 1 PublicationCorresponds to variant dbSNP:rs104894279EnsemblClinVar.1
Natural variantiVAR_058268124V → L in HPABH4A. 1 PublicationCorresponds to variant dbSNP:rs150726932EnsemblClinVar.1
Natural variantiVAR_006832129K → E in HPABH4A. 1 PublicationCorresponds to variant dbSNP:rs1040441824Ensembl.1
Natural variantiVAR_058269136D → G in HPABH4A. 1 Publication1
Natural variantiVAR_006833136D → V in HPABH4A. 2 Publications1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
M97655 mRNA Translation: AAA51541.1
D17400 mRNA Translation: BAA04224.1
D25234 Genomic DNA Translation: BAA04959.1
L76259 Genomic DNA Translation: AAB64229.1
U63383
, U63380, U63381, U63382 Genomic DNA Translation: AAC16970.1
AB042297 Genomic DNA Translation: BAA95486.1
EF445018 Genomic DNA Translation: ACA06065.1
CH471065 Genomic DNA Translation: EAW67195.1
BC009686 mRNA Translation: AAH09686.1
BC018029 mRNA Translation: AAH18029.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS8359.1

Protein sequence database of the Protein Information Resource

More...PIRi		JC1405

NCBI Reference Sequences

More...RefSeqi		NP_000308.1, NM_000317.2

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.503860

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000280362; ENSP00000280362; ENSG00000150787

Database of genes from NCBI RefSeq genomes

More...GeneIDi		5805

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:5805

UCSC genome browser

More...UCSCi		uc001pnj.5 human

<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
M97655 mRNA Translation: AAA51541.1
D17400 mRNA Translation: BAA04224.1
D25234 Genomic DNA Translation: BAA04959.1
L76259 Genomic DNA Translation: AAB64229.1
U63383
, U63380, U63381, U63382 Genomic DNA Translation: AAC16970.1
AB042297 Genomic DNA Translation: BAA95486.1
EF445018 Genomic DNA Translation: ACA06065.1
CH471065 Genomic DNA Translation: EAW67195.1
BC009686 mRNA Translation: AAH09686.1
BC018029 mRNA Translation: AAH18029.1
CCDSiCCDS8359.1
PIRiJC1405
RefSeqiNP_000308.1, NM_000317.2
UniGeneiHs.503860

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3I2BX-ray2.30A/B/C/D/E/F/G/H/I/J/K/L7-145[»]
ProteinModelPortaliQ03393
SMRiQ03393
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111769, 24 interactors
IntActiQ03393, 10 interactors
MINTiQ03393
STRINGi9606.ENSP00000280362

Chemistry databases

DrugBankiDB03886 Biopterin

PTM databases

iPTMnetiQ03393
PhosphoSitePlusiQ03393

Polymorphism and mutation databases

BioMutaiPTS

Proteomic databases

EPDiQ03393
MaxQBiQ03393
PaxDbiQ03393
PeptideAtlasiQ03393
PRIDEiQ03393
ProteomicsDBi58205
TopDownProteomicsiQ03393

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		5805
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000280362; ENSP00000280362; ENSG00000150787
GeneIDi5805
KEGGihsa:5805
UCSCiuc001pnj.5 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		5805
DisGeNETi5805
EuPathDBiHostDB:ENSG00000150787.7

GeneCards: human genes, protein and diseases

More...GeneCardsi		PTS
HGNCiHGNC:9689 PTS
HPAiHPA001481
MalaCardsiPTS
MIMi261640 phenotype
612719 gene
neXtProtiNX_Q03393
OpenTargetsiENSG00000150787
Orphaneti13 6-pyruvoyl-tetrahydropterin synthase deficiency
PharmGKBiPA34032

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4105 Eukaryota
COG0720 LUCA
GeneTreeiENSGT00390000002752
HOGENOMiHOG000225069
HOVERGENiHBG004358
InParanoidiQ03393
KOiK01737
OMAiNIAVVIW
OrthoDBiEOG091G0TKH
PhylomeDBiQ03393
TreeFamiTF105796

Enzyme and pathway databases

UniPathwayi
UPA00849;UER00819

BioCyciMetaCyc:HS07692-MONOMER
BRENDAi4.2.3.12 2681
ReactomeiR-HSA-1474151 Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation
SABIO-RKiQ03393
SIGNORiQ03393

Miscellaneous databases

EvolutionaryTraceiQ03393

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		PTS_(gene)

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

More...GenomeRNAii		5805

Protein Ontology

More...PROi		PR:Q03393

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000150787 Expressed in 233 organ(s), highest expression level in metanephros
CleanExiHS_PTS
ExpressionAtlasiQ03393 baseline and differential
GenevisibleiQ03393 HS

Family and domain databases

Gene3Di3.30.479.10, 1 hit
InterProiView protein in InterPro
IPR007115 6-PTP_synth/QueD
IPR038418 6-PTP_synth/QueD_sf
IPR022470 PTPS_Cys_AS
IPR022469 PTPS_His_AS
PANTHERiPTHR12589 PTHR12589, 1 hit
PfamiView protein in Pfam
PF01242 PTPS, 1 hit
PIRSFiPIRSF006113 PTP_synth, 1 hit
TIGRFAMsiTIGR00039 6PTHBS, 1 hit
PROSITEiView protein in PROSITE
PS00987 PTPS_1, 1 hit
PS00988 PTPS_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		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 nameiPTPS_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: Q03393
Secondary accession number(s): B0YJ87, Q8WVG8
<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: October 1, 1993
Last sequence update: October 1, 1993
Last modified: December 5, 2018
This is version 190 of the entry and version 1 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, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  7. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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