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Q03393

- PTPS_HUMAN

UniProt

Q03393 - PTPS_HUMAN

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Protein

6-pyruvoyl tetrahydrobiopterin synthase

Gene

PTS

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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

Catalytic activityi

7,8-dihydroneopterin 3'-triphosphate = 6-pyruvoyl-5,6,7,8-tetrahydropterin + triphosphate.1 Publication

Cofactori

Binds 1 zinc ion per subunit.By similarity

Kineticsi

  1. KM=8.1 µM for 7,8-dihydroneopterin triphosphate1 Publication

Vmax=120 nmol/min/mg enzyme1 Publication

Pathwayi

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi24 – 241ZincPROSITE-ProRule annotation
Active sitei43 – 431Proton acceptorPROSITE-ProRule annotation
Metal bindingi49 – 491ZincPROSITE-ProRule annotation
Metal bindingi51 – 511ZincPROSITE-ProRule annotation
Active sitei90 – 901Charge relay systemPROSITE-ProRule annotation
Active sitei134 – 1341Charge relay systemPROSITE-ProRule annotation

GO - Molecular functioni

  1. 6-pyruvoyltetrahydropterin synthase activity Source: Reactome
  2. identical protein binding Source: IntAct
  3. metal ion binding Source: UniProtKB-KW

GO - Biological processi

  1. cellular amino acid metabolic process Source: ProtInc
  2. central nervous system development Source: ProtInc
  3. nitric oxide metabolic process Source: Reactome
  4. regulation of nitric-oxide synthase activity Source: Reactome
  5. small molecule metabolic process Source: Reactome
  6. tetrahydrobiopterin biosynthetic process Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Lyase

Keywords - Biological processi

Tetrahydrobiopterin biosynthesis

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

BioCyciMetaCyc:HS07692-MONOMER.
BRENDAi4.2.3.12. 2681.
ReactomeiREACT_111176. Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation.
SABIO-RKQ03393.
UniPathwayiUPA00849; UER00819.

Names & Taxonomyi

Protein namesi
Recommended name:
6-pyruvoyl tetrahydrobiopterin synthase (EC:4.2.3.12)
Short name:
PTP synthase
Short name:
PTPS
Gene namesi
Name:PTS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:9689. PTS.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: LIFEdb
  2. cytosol Source: Reactome
  3. mitochondrion Source: LIFEdb
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640]: An 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.10 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti16 – 161R → C in HPABH4A; severe decrease in activity; diminishes phosphorylation by PKG. 1 Publication
VAR_006816
Natural varianti25 – 251R → G in HPABH4A; severe form. 1 Publication
VAR_006817
Natural varianti25 – 251R → Q in HPABH4A; abolishes activity; no effect on phosphorylation by PKG. 1 Publication
VAR_006818
Natural varianti26 – 261L → F in HPABH4A. 1 Publication
VAR_058265
Natural varianti35 – 351E → G in HPABH4A.
VAR_006819
Natural varianti36 – 361N → K in HPABH4A.
VAR_006820
Natural varianti47 – 471N → D in HPABH4A; transient phenotype; due to partial PTS deficiency; total loss of activity. 1 Publication
VAR_008040
Natural varianti52 – 521N → S in HPABH4A; severe form; common in Chinese population. 2 Publications
VAR_006821
Natural varianti56 – 561V → M in HPABH4A; mild form. 1 Publication
VAR_006822
Natural varianti57 – 571Missing in HPABH4A. 2 Publications
VAR_006823
Natural varianti67 – 671T → M in HPABH4A. 2 Publications
VAR_006824
Natural varianti70 – 701V → D in HPABH4A. 1 Publication
VAR_006825
Natural varianti87 – 871P → L in HPABH4A. 1 Publication
VAR_006826
Natural varianti87 – 871P → S in HPABH4A; severe form; common in Chinese population. 2 Publications
Corresponds to variant rs104894276 [ dbSNP | Ensembl ].
VAR_006827
Natural varianti96 – 961D → N in HPABH4A; severe form. 1 Publication
Corresponds to variant rs104894280 [ dbSNP | Ensembl ].
VAR_006828
Natural varianti97 – 971V → M in HPABH4A. 1 Publication
VAR_058266
Natural varianti99 – 991Y → C in HPABH4A. 1 Publication
VAR_058267
Natural varianti100 – 1001F → V in HPABH4A.
VAR_006829
Natural varianti106 – 1061T → M in HPABH4A. 1 Publication
VAR_006830
Natural varianti114 – 1141I → V in HPABH4A. 2 Publications
VAR_006831
Natural varianti116 – 1161D → G in HPABH4A; due to partial PTS deficiency; mild form. 1 Publication
VAR_008041
Natural varianti124 – 1241V → L in HPABH4A. 1 Publication
VAR_058268
Natural varianti129 – 1291K → E in HPABH4A. 1 Publication
VAR_006832
Natural varianti136 – 1361D → G in HPABH4A. 1 Publication
VAR_058269
Natural varianti136 – 1361D → V in HPABH4A. 2 Publications
VAR_006833

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi19 – 191S → A: Decrease in activity; abolishes phosphorylation by PKG. 1 Publication

Keywords - Diseasei

Disease mutation, Phenylketonuria

Organism-specific databases

MIMi261640. phenotype.
Orphaneti13. 6-pyruvoyl-tetrahydropterin synthase deficiency.
PharmGKBiPA34032.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 1451456-pyruvoyl tetrahydrobiopterin synthasePRO_0000057914Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei19 – 191Phosphoserine; by PKG3 Publications

Post-translational modificationi

Phosphorylation of Ser-19 is required for maximal enzyme activity.3 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ03393.
PaxDbiQ03393.
PRIDEiQ03393.

PTM databases

PhosphoSiteiQ03393.

Expressioni

Gene expression databases

BgeeiQ03393.
CleanExiHS_PTS.
ExpressionAtlasiQ03393. baseline and differential.
GenevestigatoriQ03393.

Organism-specific databases

HPAiHPA001481.

Interactioni

Subunit structurei

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

Binary interactionsi

WithEntry#Exp.IntActNotes
itself4EBI-712344,EBI-712344

Protein-protein interaction databases

BioGridi111769. 14 interactions.
IntActiQ03393. 3 interactions.
MINTiMINT-1419639.
STRINGi9606.ENSP00000280362.

Structurei

Secondary structure

1
145
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi11 – 2414
Beta strandi29 – 313
Helixi33 – 408
Helixi41 – 444
Beta strandi49 – 6214
Turni65 – 673
Helixi73 – 8311
Helixi85 – 884
Helixi93 – 964
Helixi98 – 1014
Helixi107 – 11913
Beta strandi127 – 1359
Beta strandi138 – 1425

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3I2BX-ray2.30A/B/C/D/E/F/G/H/I/J/K/L7-145[»]
ProteinModelPortaliQ03393.
SMRiQ03393. Positions 8-145.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ03393.

Family & Domainsi

Sequence similaritiesi

Belongs to the PTPS family.Curated

Phylogenomic databases

eggNOGiCOG0720.
GeneTreeiENSGT00390000002752.
HOGENOMiHOG000225069.
HOVERGENiHBG004358.
InParanoidiQ03393.
KOiK01737.
OMAiCHRLHSK.
OrthoDBiEOG7NSB3V.
PhylomeDBiQ03393.
TreeFamiTF105796.

Family and domain databases

InterProiIPR007115. 6-PTP_synth/QueD.
IPR022470. PTPS_Cys_AS.
IPR022469. PTPS_His_AS.
[Graphical view]
PANTHERiPTHR12589. PTHR12589. 1 hit.
PfamiPF01242. PTPS. 1 hit.
[Graphical view]
PIRSFiPIRSF006113. PTP_synth. 1 hit.
TIGRFAMsiTIGR00039. 6PTHBS. 1 hit.
PROSITEiPS00987. PTPS_1. 1 hit.
PS00988. PTPS_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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
Checksum:iA1CD0DC2F83187E0
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti114 – 1141I → M in AAH18029. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti16 – 161R → C in HPABH4A; severe decrease in activity; diminishes phosphorylation by PKG. 1 Publication
VAR_006816
Natural varianti25 – 251R → G in HPABH4A; severe form. 1 Publication
VAR_006817
Natural varianti25 – 251R → Q in HPABH4A; abolishes activity; no effect on phosphorylation by PKG. 1 Publication
VAR_006818
Natural varianti26 – 261L → F in HPABH4A. 1 Publication
VAR_058265
Natural varianti35 – 351E → G in HPABH4A.
VAR_006819
Natural varianti36 – 361N → K in HPABH4A.
VAR_006820
Natural varianti47 – 471N → D in HPABH4A; transient phenotype; due to partial PTS deficiency; total loss of activity. 1 Publication
VAR_008040
Natural varianti52 – 521N → S in HPABH4A; severe form; common in Chinese population. 2 Publications
VAR_006821
Natural varianti56 – 561V → M in HPABH4A; mild form. 1 Publication
VAR_006822
Natural varianti57 – 571Missing in HPABH4A. 2 Publications
VAR_006823
Natural varianti67 – 671T → M in HPABH4A. 2 Publications
VAR_006824
Natural varianti70 – 701V → D in HPABH4A. 1 Publication
VAR_006825
Natural varianti87 – 871P → L in HPABH4A. 1 Publication
VAR_006826
Natural varianti87 – 871P → S in HPABH4A; severe form; common in Chinese population. 2 Publications
Corresponds to variant rs104894276 [ dbSNP | Ensembl ].
VAR_006827
Natural varianti96 – 961D → N in HPABH4A; severe form. 1 Publication
Corresponds to variant rs104894280 [ dbSNP | Ensembl ].
VAR_006828
Natural varianti97 – 971V → M in HPABH4A. 1 Publication
VAR_058266
Natural varianti99 – 991Y → C in HPABH4A. 1 Publication
VAR_058267
Natural varianti100 – 1001F → V in HPABH4A.
VAR_006829
Natural varianti106 – 1061T → M in HPABH4A. 1 Publication
VAR_006830
Natural varianti114 – 1141I → V in HPABH4A. 2 Publications
VAR_006831
Natural varianti116 – 1161D → G in HPABH4A; due to partial PTS deficiency; mild form. 1 Publication
VAR_008041
Natural varianti124 – 1241V → L in HPABH4A. 1 Publication
VAR_058268
Natural varianti129 – 1291K → E in HPABH4A. 1 Publication
VAR_006832
Natural varianti136 – 1361D → G in HPABH4A. 1 Publication
VAR_058269
Natural varianti136 – 1361D → V in HPABH4A. 2 Publications
VAR_006833

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.

Genome annotation databases

EnsembliENST00000280362; ENSP00000280362; ENSG00000150787.
GeneIDi5805.
KEGGihsa:5805.
UCSCiuc001pnj.4. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS8359.1.
PIRi JC1405.
RefSeqi NP_000308.1. NM_000317.2.
UniGenei Hs.503860.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
3I2B X-ray 2.30 A/B/C/D/E/F/G/H/I/J/K/L 7-145 [» ]
ProteinModelPortali Q03393.
SMRi Q03393. Positions 8-145.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 111769. 14 interactions.
IntActi Q03393. 3 interactions.
MINTi MINT-1419639.
STRINGi 9606.ENSP00000280362.

PTM databases

PhosphoSitei Q03393.

Proteomic databases

MaxQBi Q03393.
PaxDbi Q03393.
PRIDEi Q03393.

Protocols and materials databases

DNASUi 5805.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000280362 ; ENSP00000280362 ; ENSG00000150787 .
GeneIDi 5805.
KEGGi hsa:5805.
UCSCi uc001pnj.4. human.

Organism-specific databases

CTDi 5805.
GeneCardsi GC11P112097.
HGNCi HGNC:9689. PTS.
HPAi HPA001481.
MIMi 261640. phenotype.
612719. gene.
neXtProti NX_Q03393.
Orphaneti 13. 6-pyruvoyl-tetrahydropterin synthase deficiency.
PharmGKBi PA34032.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0720.
GeneTreei ENSGT00390000002752.
HOGENOMi HOG000225069.
HOVERGENi HBG004358.
InParanoidi Q03393.
KOi K01737.
OMAi CHRLHSK.
OrthoDBi EOG7NSB3V.
PhylomeDBi Q03393.
TreeFami TF105796.

Enzyme and pathway databases

UniPathwayi UPA00849 ; UER00819 .
BioCyci MetaCyc:HS07692-MONOMER.
BRENDAi 4.2.3.12. 2681.
Reactomei REACT_111176. Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation.
SABIO-RK Q03393.

Miscellaneous databases

EvolutionaryTracei Q03393.
GeneWikii PTS_(gene).
GenomeRNAii 5805.
NextBioi 22628.
PROi Q03393.
SOURCEi Search...

Gene expression databases

Bgeei Q03393.
CleanExi HS_PTS.
ExpressionAtlasi Q03393. baseline and differential.
Genevestigatori Q03393.

Family and domain databases

InterProi IPR007115. 6-PTP_synth/QueD.
IPR022470. PTPS_Cys_AS.
IPR022469. PTPS_His_AS.
[Graphical view ]
PANTHERi PTHR12589. PTHR12589. 1 hit.
Pfami PF01242. PTPS. 1 hit.
[Graphical view ]
PIRSFi PIRSF006113. PTP_synth. 1 hit.
TIGRFAMsi TIGR00039. 6PTHBS. 1 hit.
PROSITEi PS00987. PTPS_1. 1 hit.
PS00988. PTPS_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Human 6-pyruvoyltetrahydropterin synthase: cDNA cloning and heterologous expression of the recombinant enzyme."
    Thoeny B., Leimbacher W., Buergisser D., Heizmann C.W.
    Biochem. Biophys. Res. Commun. 189:1437-1443(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, CATALYTIC ACTIVITY.
    Tissue: Liver.
  2. "cDNA cloning, expression in Escherichia coli and purification of human 6-pyruvoyl-tetrahydropterin synthase."
    Ashida A., Hatakeyama K., Kagamiyama H.
    Biochem. Biophys. Res. Commun. 195:1386-1393(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. "A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia."
    Ashida A., Owada M., Hatakeyama K.
    Genomics 24:408-410(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT HPABH4A VAL-114.
  4. "Chromosomal localization, genomic structure and characterization of the human gene and a retropseudogene for 6-pyruvoyltetrahydropterin synthase."
    Kluge C., Brecevic L., Heizmann C.W., Blau N., Thoeny B.
    Eur. J. Biochem. 240:477-484(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  5. "Genomic structure of 6-pyruvoyl-tetrahydropterin synthase gene and a T/C polymorphism detected in Chinese."
    Liu T.T., Lu S.F., Hsiao K.J.
    J. Biomed. Lab. Sci. 10:39-47(1998)
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  6. "Isolation and sequencing of human 6-pyruvoyl-tetrahydropterin synthase gene containing BAC clone 321H15."
    Hsiao K.-J., Liu T.-T., Chang Y.-H., Chiu Y.-H., Chiang S.-H., Chang H.-M., Chen C.-Y., Tsai S.-F.
    Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  7. NHLBI resequencing and genotyping service (RS&G)
    Submitted (FEB-2007) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  9. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain and Pancreas.
  10. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-19, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  11. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-19, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  12. "Serine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase II."
    Scherer-Oppliger T., Leimbacher W., Blau N., Thoeny B.
    J. Biol. Chem. 274:31341-31348(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANTS HPABH4A CYS-16 AND GLN-25, KINETIC PARAMETERS, PHOSPHORYLATION AT SER-19, MUTAGENESIS OF SER-19.
  13. "Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes."
    Thoeny B., Blau N.
    Hum. Mutat. 10:11-20(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW ON VARIANTS.
  14. "Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase."
    Thoeny B., Leimbacher W., Blau N., Harvie A., Heizmann C.W.
    Am. J. Hum. Genet. 54:782-792(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HPABH4A CYS-16 AND GLN-25.
  15. "Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in humans. Phosphorylation is a requirement for in vivo activity."
    Oppliger T., Thoeny B., Nar H., Buergisser D., Huber R., Heizmann C.W., Blau N.
    J. Biol. Chem. 270:29498-29506(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANTS HPABH4A CYS-16; GLN-25; VAL-57 DEL AND LEU-87.
  16. "Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency."
    Liu T.T., Hsiao K.J.
    Hum. Genet. 98:313-316(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HPABH4A SER-52 AND SER-87.
  17. "Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families."
    Oppliger T., Thoeny B., Kluge C., Matasovic A., Heizmann C.W., Ponzone A., Spada M., Blau N.
    Hum. Mutat. 10:25-35(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HPABH4A VAL-57 DEL; MET-67; GLU-129 AND VAL-136.
  18. "6-pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study."
    Hanihara T., Inoue K., Kawanishi C., Sugiyama N., Miyakawa T., Onishi H., Yamada Y., Osaka H., Kosaka K., Iwabuchi K., Owada M.
    Mov. Disord. 12:408-411(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HPABH4A VAL-114.
  19. "Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency."
    Liu T.-T., Hsiao K.-J., Lu S.-F., Wu S.-J., Wu K.-F., Chiang S.-H., Liu X.-Q., Chen R.-G., Yu W.-M.
    Hum. Mutat. 11:76-83(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HPABH4A GLY-25; SER-52; MET-56; ASP-70; SER-87; ASN-96 AND MET-106.
  20. "Single-step mutation scanning of the 6-pyruvoyltetrahydropterin synthase gene in patients with hyperphenylalaninemia."
    Romstad A., Guldberg P., Blau N., Guettler F.
    Clin. Chem. 45:2102-2108(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HPABH4A VAL-57 DEL AND MET-97.
  21. "Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia."
    Scherer-Oppliger T., Matasovic A., Laufs S., Levy H.L., Quackenbush E.J., Blau N., Thoeny B.
    Hum. Mutat. 13:286-289(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HPABH4A ASP-47 AND GLY-116.
  22. "Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS."
    Blau N., Scherer-Oppliger T., Baumer A., Riegel M., Matasovic A., Schinzel A., Jaeken J., Thoeny B.
    Hum. Mutat. 16:54-60(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HPABH4A CYS-99.
  23. "Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency."
    Dudesek A., Roeschinger W., Muntau A.C., Seidel J., Leupold D., Thoeny B., Blau N.
    Eur. J. Pediatr. 160:267-276(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HPABH4A PHE-26; MET-67; LEU-87; LEU-124; GLY-136 AND VAL-136.

Entry informationi

Entry nameiPTPS_HUMAN
AccessioniPrimary (citable) accession number: Q03393
Secondary accession number(s): B0YJ87, Q8WVG8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1993
Last sequence update: October 1, 1993
Last modified: October 29, 2014
This is version 153 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

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.

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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

External Data

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