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PTS 6-pyruvoyltetrahydropterin synthase [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000317 Homo sapiens 6-pyruvoyltetrahydropterin synthase (PTS), mRNA. GenEZ ORF Cloning In-stock $248.00 $199.00 10

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Gene Symbol PTS
Entrez Gene ID 5805
Full Name 6-pyruvoyltetrahydropterin synthase
Synonyms PTPS
General protein information
Preferred Names
6-pyruvoyl tetrahydrobiopterin synthase
Names
6-pyruvoyl tetrahydrobiopterin synthase
PTP synthase
NP_000308.1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

11

11q22.3

Summary The enzyme encoded by this gene catalyzes the elimination of inorganic triphosphate from dihydroneopterin triphosphate, which is the second and irreversible step in the biosynthesis of tetrahydrobiopterin from GTP. Tetrahydrobiopterin, also known as BH(4), is an essential cofactor and regulator of various enzyme activities, including enzymes involved in serotonin biosynthesis and NO synthase activity. Mutations in this gene result in hyperphenylalaninemia. [provided by RefSeq, Oct 2008].
Disorder

MIM: 612719

Hyperphenylalaninemia, BH4-deficient, A, 261640 (3)

mRNA Protein Product Sequence Price Select
NM_000317, 164663900 NP_000308, 4506331 6-pyruvoyl tetrahydrobiopterin synthase ORF Sequence $99.00
KEGG
hsa00790Folate biosynthesis
BIOCYC
META_PWY-5664tetrahydrobiopterin biosynthesis II
HUMAN_PWY-5663tetrahydrobiopterin biosynthesis I
HUMAN_PWY-5664tetrahydrobiopterin biosynthesis II
Reactome
REACT_12508Metabolism of nitric oxide
REACT_12389eNOS activation and regulation
REACT_111217Metabolism
REACT_111176Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation
Homo sapiens (human)PTSNP_000308.1
Pan troglodytes (chimpanzee)PTSXP_001147929.1
Macaca mulatta (Rhesus monkey)PTSXP_001108264.1
Canis lupus familiaris (dog)PTSXP_854076.1
Bos taurus (cattle)PTSNP_001107009.1
Mus musculus (house mouse)PtsNP_035350.1
Rattus norvegicus (Norway rat)PtsNP_058916.1
Gallus gallus (chicken)PTSXP_004948194.1
Danio rerio (zebrafish)ptsNP_001092237.1
Drosophila melanogaster (fruit fly)prNP_724244.1
Caenorhabditis elegansptps-1NP_001040626.1
Xenopus (Silurana) tropicalis (western clawed frog)LOC100487259XP_002937697.1
Process
IDNameEvidence
GO:0006520cellular amino acid metabolic processTAS
GO:0006729tetrahydrobiopterin biosynthetic processIEA
GO:0007417central nervous system developmentTAS
GO:0044281small molecule metabolic processTAS
GO:0046209nitric oxide metabolic processTAS
GO:0050999regulation of nitric-oxide synthase activityTAS
Component
IDNameEvidence
GO:0005737cytoplasmIDA
GO:0005739mitochondrionIDA
GO:0005829cytosolTAS
Function
IDNameEvidence
GO:00038746-pyruvoyltetrahydropterin synthase activityTAS
GO:0042802identical protein bindingIPI
GO:0042803protein homodimerization activityIEA
GO:0046872metal ion bindingIEA
GeneCards PTS
PDB 3I2B
UniProt Q03393
Vega OTTHUMG00000167167
MIM 612719
Ensembl ENSG00000150787
HGNC 9689
HPRD 11840

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the PTS gene?

The PTS gene provides instructions for making an enzyme called 6-pyruvoyltetrahydropterin synthase. This enzyme is involved in the second of three steps in the production of a molecule called tetrahydrobiopterin (BH4). Other enzymes help carry out the first and third steps in this process.

Tetrahydrobiopterin plays a critical role in processing several protein building blocks (amino acids) in the body. For example, it works with the enzyme phenylalanine hydroxylase to convert an amino acid called phenylalanine into another amino acid, tyrosine. Tetrahydrobiopterin is also involved in reactions that produce chemicals called neurotransmitters, which transmit signals between nerve cells in the brain. Because it helps enzymes carry out chemical reactions, tetrahydrobiopterin is known as a cofactor.

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