PTS (gene)

PTS
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3I2B
Identifiers
Aliases	PTS, Pts, PTPS, 6-pyruvoyltetrahydropterin synthase, 6-pyruvoyl-tetrahydropterin synthase
External IDs	OMIM: 612719; MGI: 1338783; HomoloGene: 268; GeneCards: PTS; OMA:PTS - orthologs
Gene location (Human) Chr. Chromosome 11 (human) Band 11q23.1 Start 112,226,367 bp End 112,269,955 bp
Gene location (Mouse) Chr. Chromosome 9 (mouse) Band 9|9 A5.3 Start 50,521,617 bp End 50,528,724 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right adrenal gland left adrenal cortex right lobe of liver right adrenal cortex pons hypothalamus superior vestibular nucleus glutes biceps brachii gingival epithelium Top expressed in right kidney granulocyte proximal tubule corneal stroma medullary collecting duct intercostal muscle Paneth cell brown adipose tissue lumbar spinal ganglion islet of Langerhans More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding protein homodimerization activity metal ion binding lyase activity 6-pyruvoyltetrahydropterin synthase activity identical protein binding Cellular component cytoplasm cytosol mitochondrion Biological process tetrahydrobiopterin biosynthetic process cellular amino acid metabolic process central nervous system development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5805 19286 Ensembl ENSG00000150787 ENSMUSG00000032067 UniProt Q03393 Q9R1Z7 RefSeq (mRNA) NM_000317 NM_011220 RefSeq (protein) NP_000308 NP_035350 NP_001351417 NP_001351418 NP_001351419 Location (UCSC) Chr 11: 112.23 – 112.27 Mb Chr 9: 50.52 – 50.53 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

6-pyruvoyltetrahydropterin synthase, also known as PTS, is a human gene which facilitates folate biosynthesis.

See also

• 6-pyruvoyltetrahydropterin synthase
• 6-Pyruvoyltetrahydropterin synthase deficiency

Further reading

• Werner ER, Werner-Felmayer G, Fuchs D, et al. (1991). "Biochemistry and function of pteridine synthesis in human and murine macrophages". Pathobiology. 59 (4): 276–9. doi:10.1159/000163662. PMID 1883524.
• Thöny B, Blau N (1997). "Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes". Hum. Mutat. 10 (1): 11–20. doi:10.1002/(SICI)1098-1004(1997)10:1<11::AID-HUMU2>3.0.CO;2-P. PMID 9222755. S2CID 9085242.
• Thöny B, Auerbach G, Blau N (2000). "Tetrahydrobiopterin biosynthesis, regeneration and functions". Biochem. J. 347 (1): 1–16. doi:10.1042/0264-6021:3470001. PMC 1220924. PMID 10727395.
• Thöny B, Leimbacher W, Bürgisser D, Heizmann CW (1993). "Human 6-pyruvoyltetrahydropterin synthase: cDNA cloning and heterologous expression of the recombinant enzyme". Biochem. Biophys. Res. Commun. 189 (3): 1437–43. doi:10.1016/0006-291X(92)90235-D. PMID 1282802.
• Scriver CR, Clow CL, Kaplan P, Niederwieser A (1987). "Hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. Unusual gene dosage effect in heterozygotes". Hum. Genet. 77 (2): 168–71. doi:10.1007/BF00272386. PMID 3308682. S2CID 19941299.
• Oppliger T, Thöny B, Nar H, et al. (1996). "Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in humans. Phosphorylation is a requirement for in vivo activity". J. Biol. Chem. 270 (49): 29498–506. doi:10.1074/jbc.270.49.29498. PMID 7493990.
• Ashida A, Owada M, Hatakeyama K (1995). "A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia". Genomics. 24 (2): 408–10. doi:10.1006/geno.1994.1642. PMID 7698774.
• Thöny B, Leimbacher W, Blau N, et al. (1994). "Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase". Am. J. Hum. Genet. 54 (5): 782–92. PMC 1918260. PMID 8178819.
• Thöny B, Heizmann CW, Mattei MG (1994). "Chromosomal location of two human genes encoding tetrahydrobiopterin-metabolizing enzymes: 6-pyruvoyl-tetrahydropterin synthase maps to 11q22.3-q23.3, and pterin-4 alpha-carbinolamine dehydratase maps to 10q22". Genomics. 19 (2): 365–8. doi:10.1006/geno.1994.1071. PMID 8188266.
• Ashida A, Hatakeyama K, Kagamiyama H (1993). "cDNA cloning, expression in Escherichia coli and purification of human 6-pyruvoyl-tetrahydropterin synthase". Biochem. Biophys. Res. Commun. 195 (3): 1386–93. doi:10.1006/bbrc.1993.2197. PMID 8216273.
• Liu TT, Hsiao KJ (1996). "Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency". Hum. Genet. 98 (3): 313–6. doi:10.1007/s004390050213. PMID 8707300. S2CID 31221986.
• Kluge C, Brecevic L, Heizmann CW, et al. (1996). "Chromosomal localization, genomic structure and characterization of the human gene and a retropseudogene for 6-pyruvoyltetrahydropterin synthase". Eur. J. Biochem. 240 (2): 477–84. doi:10.1111/j.1432-1033.1996.0477h.x. PMID 8841415.
• Hanihara T, Inoue K, Kawanishi C, et al. (1997). "6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study". Mov. Disord. 12 (3): 408–11. doi:10.1002/mds.870120321. PMID 9159737. S2CID 43917747.
• Oppliger T, Thöny B, Kluge C, et al. (1997). "Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families". Hum. Mutat. 10 (1): 25–35. doi:10.1002/(SICI)1098-1004(1997)10:1<25::AID-HUMU4>3.0.CO;2-L. PMID 9222757. S2CID 26721347.
• Liu TT, Hsiao KJ, Lu SF, et al. (1998). "Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency". Hum. Mutat. 11 (1): 76–83. doi:10.1002/(SICI)1098-1004(1998)11:1<76::AID-HUMU12>3.0.CO;2-W. PMID 9450907. S2CID 24053351.
• Scherer-Oppliger T, Matasovic A, Laufs S, et al. (1999). "Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia". Hum. Mutat. 13 (4): 286–9. doi:10.1002/(SICI)1098-1004(1999)13:4<286::AID-HUMU4>3.0.CO;2-C. PMID 10220141. S2CID 7911762.
• Scherer-Oppliger T, Leimbacher W, Blau N, Thöny B (1999). "Serine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase II". J. Biol. Chem. 274 (44): 31341–8. doi:10.1074/jbc.274.44.31341. PMID 10531334.
• Kim ST, Lim DS, Canman CE, Kastan MB (2000). "Substrate specificities and identification of putative substrates of ATM kinase family members". J. Biol. Chem. 274 (53): 37538–43. doi:10.1074/jbc.274.53.37538. PMID 10608806.