6-pyruvoyl tetrahydrobiopterin synthase

<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

Miscellaneous

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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

• 7,8-dihydroneopterin 3'-triphosphate

  • Search proteins in UniProtKB for this molecule.
  • Search chemical reactions in Rhea for this molecule.
  • See the description of this molecule in ChEBI.

  = 6-pyruvoyl-5,6,7,8-tetrahydropterin

  • Search proteins in UniProtKB for this molecule.
  • Search chemical reactions in Rhea for this molecule.
  • See the description of this molecule in ChEBI.

  + H⁺

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  • Search chemical reactions in Rhea for this molecule.
  • See the description of this molecule in ChEBI.

  + triphosphate

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  • Search chemical reactions in Rhea for this molecule.
  • See the description of this molecule in ChEBI.
  EC:4.2.3.12
  • Search proteins in UniProtKB for this EC number.
  • See the description of this EC number in ENZYME.
  Source: Rhea

  • Search for this reaction in UniProtKB.
  • See the description of this reaction in Rhea.

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  7,8-dihydroneopterin 3'-triphosphate

  • Search proteins in UniProtKB for this molecule.
  • Search chemical reactions in Rhea for this molecule.
  • See the description of this molecule in ChEBI.

  zoom

  =

  6-pyruvoyl-5,6,7,8-tetrahydropterin

  • Search proteins in UniProtKB for this molecule.
  • Search chemical reactions in Rhea for this molecule.
  • See the description of this molecule in ChEBI.

  zoom

  +

  H⁺

  • Search proteins in UniProtKB for this molecule.
  • Search chemical reactions in Rhea for this molecule.
  • See the description of this molecule in ChEBI.

  

  +

  triphosphate

  • Search proteins in UniProtKB for this molecule.
  • Search chemical reactions in Rhea for this molecule.
  • See the description of this molecule in ChEBI.

  zoom

<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

Sites

<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: RGD <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ
  • Ref.1

    "Purification and cDNA cloning of rat 6-pyruvoyl-tetrahydropterin synthase."
    Inoue Y., Kawasaki Y., Harada T., Hatakeyama K., Kagamiyama H.
    J. Biol. Chem. 266:20791-20796(1991) [PubMed] [Europe PMC] [Abstract]

    Cited for: NUCLEOTIDE SEQUENCE [MRNA], PARTIAL PROTEIN SEQUENCE.
• identical protein binding Source: RGDInferred from sequence orthologyⁱ
  • "Protein-protein interaction panel using mouse full-length cDNAs."
    Suzuki H., Fukunishi Y., Kagawa I., Saito R., Oda H., Endo T., Kondo S., Bono H., Okazaki Y., Hayashizaki Y.
    Genome Res. 11:1758-1765(2001) [PubMed] [Europe PMC] [Abstract]
  • "A human protein-protein interaction network: a resource for annotating the proteome."
    Stelzl U., Worm U., Lalowski M., Haenig C., Brembeck F.H., Goehler H., Stroedicke M., Zenkner M., Schoenherr A., Koeppen S., Timm J., Mintzlaff S., Abraham C., Bock N., Kietzmann S., Goedde A., Toksoez E., Droege A.

    , Krobitsch S., Korn B., Birchmeier W., Lehrach H., Wanker E.E.
    Cell 122:957-968(2005) [PubMed] [Europe PMC] [Abstract]
  • "Towards a proteome-scale map of the human protein-protein interaction network."
    Rual J.F., Venkatesan K., Hao T., Hirozane-Kishikawa T., Dricot A., Li N., Berriz G.F., Gibbons F.D., Dreze M., Ayivi-Guedehoussou N., Klitgord N., Simon C., Boxem M., Milstein S., Rosenberg J., Goldberg D.S., Zhang L.V., Wong S.L.

    , Franklin G., Li S., Albala J.S., Lim J., Fraughton C., Llamosas E., Cevik S., Bex C., Lamesch P., Sikorski R.S., Vandenhaute J., Zoghbi H.Y., Smolyar A., Bosak S., Sequerra R., Doucette-Stamm L., Cusick M.E., Hill D.E., Roth F.P., Vidal M.
    Nature 437:1173-1178(2005) [PubMed] [Europe PMC] [Abstract]
  • "Next-generation sequencing to generate interactome datasets."
    Yu H., Tardivo L., Tam S., Weiner E., Gebreab F., Fan C., Svrzikapa N., Hirozane-Kishikawa T., Rietman E., Yang X., Sahalie J., Salehi-Ashtiani K., Hao T., Cusick M.E., Hill D.E., Roth F.P., Braun P., Vidal M.
    Nat. Methods 8:478-480(2011) [PubMed] [Europe PMC] [Abstract]
  • "Elucidating common structural features of human pathogenic variations using large-scale atomic-resolution protein networks."
    Das J., Lee H.R., Sagar A., Fragoza R., Liang J., Wei X., Wang X., Mort M., Stenson P.D., Cooper D.N., Yu H.
    Hum. Mutat. 35:585-593(2014) [PubMed] [Europe PMC] [Abstract]
  • "A proteome-scale map of the human interactome network."
    Rolland T., Tasan M., Charloteaux B., Pevzner S.J., Zhong Q., Sahni N., Yi S., Lemmens I., Fontanillo C., Mosca R., Kamburov A., Ghiassian S.D., Yang X., Ghamsari L., Balcha D., Begg B.E., Braun P., Brehme M.

    , Broly M.P., Carvunis A.R., Convery-Zupan D., Corominas R., Coulombe-Huntington J., Dann E., Dreze M., Dricot A., Fan C., Franzosa E., Gebreab F., Gutierrez B.J., Hardy M.F., Jin M., Kang S., Kiros R., Lin G.N., Luck K., MacWilliams A., Menche J., Murray R.R., Palagi A., Poulin M.M., Rambout X., Rasla J., Reichert P., Romero V., Ruyssinck E., Sahalie J.M., Scholz A., Shah A.A., Sharma A., Shen Y., Spirohn K., Tam S., Tejeda A.O., Trigg S.A., Twizere J.C., Vega K., Walsh J., Cusick M.E., Xia Y., Barabasi A.L., Iakoucheva L.M., Aloy P., De Las Rivas J., Tavernier J., Calderwood M.A., Hill D.E., Hao T., Roth F.P., Vidal M.
    Cell 159:1212-1226(2014) [PubMed] [Europe PMC] [Abstract]
  • "A massively parallel pipeline to clone DNA variants and examine molecular phenotypes of human disease mutations."
    Wei X., Das J., Fragoza R., Liang J., Bastos de Oliveira F.M., Lee H.R., Wang X., Mort M., Stenson P.D., Cooper D.N., Lipkin S.M., Smolka M.B., Yu H.
    PLoS Genet. 10:e1004819-e1004819(2014) [PubMed] [Europe PMC] [Abstract]
  • "Widespread macromolecular interaction perturbations in human genetic disorders."
    Sahni N., Yi S., Taipale M., Fuxman Bass J.I., Coulombe-Huntington J., Yang F., Peng J., Weile J., Karras G.I., Wang Y., Kovacs I.A., Kamburov A., Krykbaeva I., Lam M.H., Tucker G., Khurana V., Sharma A., Liu Y.Y.

    , Yachie N., Zhong Q., Shen Y., Palagi A., San-Miguel A., Fan C., Balcha D., Dricot A., Jordan D.M., Walsh J.M., Shah A.A., Yang X., Stoyanova A.K., Leighton A., Calderwood M.A., Jacob Y., Cusick M.E., Salehi-Ashtiani K., Whitesell L.J., Sunyaev S., Berger B., Barabasi A.L., Charloteaux B., Hill D.E., Hao T., Roth F.P., Xia Y., Walhout A.J.M., Lindquist S., Vidal M.
    Cell 161:647-660(2015) [PubMed] [Europe PMC] [Abstract]
  • "Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations."
    Fragoza R., Das J., Wierbowski S.D., Liang J., Tran T.N., Liang S., Beltran J.F., Rivera-Erick C.A., Ye K., Wang T.Y., Yao L., Mort M., Stenson P.D., Cooper D.N., Wei X., Keinan A., Schimenti J.C., Clark A.G., Yu H.
    Nat Commun 10:4141-4141(2019) [PubMed] [Europe PMC] [Abstract]
• metal ion binding Source: UniProtKB-KW
• protein homodimerization activity Source: RGDInferred from sequence orthologyⁱ
  • "Structure, genomic localization and recombinant expression of the mouse 6-pyruvoyl-tetrahydropterin synthase gene."
    Turri M.O., Ilg E.C., Thony B., Blau N.
    Biol. Chem. 379:1441-1447(1998) [PubMed] [Europe PMC] [Abstract]

GO - Biological processⁱ

• tetrahydrobiopterin biosynthetic process Source: RGDInferred from sequence orthologyⁱ
  • "Structure, genomic localization and recombinant expression of the mouse 6-pyruvoyl-tetrahydropterin synthase gene."
    Turri M.O., Ilg E.C., Thony B., Blau N.
    Biol. Chem. 379:1441-1447(1998) [PubMed] [Europe PMC] [Abstract]

<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

Enzyme and pathway databases

<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

Organism-specific databases

<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

<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

Keywords - Diseaseⁱ

<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

Amino acid modifications

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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

Keywords - PTMⁱ

Proteomic databases

PTM databases

<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

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structureⁱ

GO - Molecular functionⁱ

• identical protein binding Source: RGDInferred from sequence orthologyⁱ
  • "Protein-protein interaction panel using mouse full-length cDNAs."
    Suzuki H., Fukunishi Y., Kagawa I., Saito R., Oda H., Endo T., Kondo S., Bono H., Okazaki Y., Hayashizaki Y.
    Genome Res. 11:1758-1765(2001) [PubMed] [Europe PMC] [Abstract]
  • "A human protein-protein interaction network: a resource for annotating the proteome."
    Stelzl U., Worm U., Lalowski M., Haenig C., Brembeck F.H., Goehler H., Stroedicke M., Zenkner M., Schoenherr A., Koeppen S., Timm J., Mintzlaff S., Abraham C., Bock N., Kietzmann S., Goedde A., Toksoez E., Droege A.

    , Krobitsch S., Korn B., Birchmeier W., Lehrach H., Wanker E.E.
    Cell 122:957-968(2005) [PubMed] [Europe PMC] [Abstract]
  • "Towards a proteome-scale map of the human protein-protein interaction network."
    Rual J.F., Venkatesan K., Hao T., Hirozane-Kishikawa T., Dricot A., Li N., Berriz G.F., Gibbons F.D., Dreze M., Ayivi-Guedehoussou N., Klitgord N., Simon C., Boxem M., Milstein S., Rosenberg J., Goldberg D.S., Zhang L.V., Wong S.L.

    , Franklin G., Li S., Albala J.S., Lim J., Fraughton C., Llamosas E., Cevik S., Bex C., Lamesch P., Sikorski R.S., Vandenhaute J., Zoghbi H.Y., Smolyar A., Bosak S., Sequerra R., Doucette-Stamm L., Cusick M.E., Hill D.E., Roth F.P., Vidal M.
    Nature 437:1173-1178(2005) [PubMed] [Europe PMC] [Abstract]
  • "Next-generation sequencing to generate interactome datasets."
    Yu H., Tardivo L., Tam S., Weiner E., Gebreab F., Fan C., Svrzikapa N., Hirozane-Kishikawa T., Rietman E., Yang X., Sahalie J., Salehi-Ashtiani K., Hao T., Cusick M.E., Hill D.E., Roth F.P., Braun P., Vidal M.
    Nat. Methods 8:478-480(2011) [PubMed] [Europe PMC] [Abstract]
  • "Elucidating common structural features of human pathogenic variations using large-scale atomic-resolution protein networks."
    Das J., Lee H.R., Sagar A., Fragoza R., Liang J., Wei X., Wang X., Mort M., Stenson P.D., Cooper D.N., Yu H.
    Hum. Mutat. 35:585-593(2014) [PubMed] [Europe PMC] [Abstract]
  • "A proteome-scale map of the human interactome network."
    Rolland T., Tasan M., Charloteaux B., Pevzner S.J., Zhong Q., Sahni N., Yi S., Lemmens I., Fontanillo C., Mosca R., Kamburov A., Ghiassian S.D., Yang X., Ghamsari L., Balcha D., Begg B.E., Braun P., Brehme M.

    , Broly M.P., Carvunis A.R., Convery-Zupan D., Corominas R., Coulombe-Huntington J., Dann E., Dreze M., Dricot A., Fan C., Franzosa E., Gebreab F., Gutierrez B.J., Hardy M.F., Jin M., Kang S., Kiros R., Lin G.N., Luck K., MacWilliams A., Menche J., Murray R.R., Palagi A., Poulin M.M., Rambout X., Rasla J., Reichert P., Romero V., Ruyssinck E., Sahalie J.M., Scholz A., Shah A.A., Sharma A., Shen Y., Spirohn K., Tam S., Tejeda A.O., Trigg S.A., Twizere J.C., Vega K., Walsh J., Cusick M.E., Xia Y., Barabasi A.L., Iakoucheva L.M., Aloy P., De Las Rivas J., Tavernier J., Calderwood M.A., Hill D.E., Hao T., Roth F.P., Vidal M.
    Cell 159:1212-1226(2014) [PubMed] [Europe PMC] [Abstract]
  • "A massively parallel pipeline to clone DNA variants and examine molecular phenotypes of human disease mutations."
    Wei X., Das J., Fragoza R., Liang J., Bastos de Oliveira F.M., Lee H.R., Wang X., Mort M., Stenson P.D., Cooper D.N., Lipkin S.M., Smolka M.B., Yu H.
    PLoS Genet. 10:e1004819-e1004819(2014) [PubMed] [Europe PMC] [Abstract]
  • "Widespread macromolecular interaction perturbations in human genetic disorders."
    Sahni N., Yi S., Taipale M., Fuxman Bass J.I., Coulombe-Huntington J., Yang F., Peng J., Weile J., Karras G.I., Wang Y., Kovacs I.A., Kamburov A., Krykbaeva I., Lam M.H., Tucker G., Khurana V., Sharma A., Liu Y.Y.

    , Yachie N., Zhong Q., Shen Y., Palagi A., San-Miguel A., Fan C., Balcha D., Dricot A., Jordan D.M., Walsh J.M., Shah A.A., Yang X., Stoyanova A.K., Leighton A., Calderwood M.A., Jacob Y., Cusick M.E., Salehi-Ashtiani K., Whitesell L.J., Sunyaev S., Berger B., Barabasi A.L., Charloteaux B., Hill D.E., Hao T., Roth F.P., Xia Y., Walhout A.J.M., Lindquist S., Vidal M.
    Cell 161:647-660(2015) [PubMed] [Europe PMC] [Abstract]
  • "Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations."
    Fragoza R., Das J., Wierbowski S.D., Liang J., Tran T.N., Liang S., Beltran J.F., Rivera-Erick C.A., Ye K., Wang T.Y., Yao L., Mort M., Stenson P.D., Cooper D.N., Wei X., Keinan A., Schimenti J.C., Clark A.G., Yu H.
    Nat Commun 10:4141-4141(2019) [PubMed] [Europe PMC] [Abstract]
• protein homodimerization activity Source: RGDInferred from sequence orthologyⁱ
  • "Structure, genomic localization and recombinant expression of the mouse 6-pyruvoyl-tetrahydropterin synthase gene."
    Turri M.O., Ilg E.C., Thony B., Blau N.
    Biol. Chem. 379:1441-1447(1998) [PubMed] [Europe PMC] [Abstract]

Protein-protein interaction databases

<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

3D structure databases

Miscellaneous databases

<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

Family and domain databases

<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%5Flength">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>Sequenceⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

        10         20         30         40         50
MNAAVGLRRR ARLSRLVSFS ASHRLHSPSL SAEENLKVFG KCNNPNGHGH 
        60         70         80         90        100
NYKVVVTIHG EIDPVTGMVM NLTDLKEYME EAIMKPLDHK NLDLDVPYFA 
       110        120        130        140 
DVVSTTENVA VYIWENLQRL LPVGALYKVK VYETDNNIVV YKGE       

Sequence databases

Genome annotation databases

<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

• 90% Identity
• 50% Identity

<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

3D structure databases

Protein-protein interaction databases

PTM databases

Proteomic databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<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 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

Documents

1. PATHWAY comments
   Index of metabolic and biosynthesis pathways
2. PDB cross-references
   Index of Protein Data Bank (PDB) cross-references
3. SIMILARITY comments
   Index of protein domains and families