PTS (gene): Difference between revisions

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{{Infobox_gene}}
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'''6-pyruvoyltetrahydropterin synthase''', also known as '''PTS''', is a human [[gene]] which facilitates [[Folic acid|folate biosynthesis]].<ref name="entrez">{{cite web | title = Entrez Gene: PTS 6-pyruvoyltetrahydropterin synthase| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5805| accessdate = }}</ref>
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{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = 6-pyruvoyltetrahydropterin synthase
| HGNCid = 9689
| Symbol = PTS
| AltSymbols =; PTPS
| OMIM = 261640
| ECnumber = 
| Homologene = 268
| MGIid = 1338783
| GeneAtlas_image1 = PBB_GE_PTS_209694_at_tn.png
| Function = {{GNF_GO|id=GO:0003874 |text = 6-pyruvoyltetrahydropterin synthase activity}} {{GNF_GO|id=GO:0008270 |text = zinc ion binding}} {{GNF_GO|id=GO:0016829 |text = lyase activity}} {{GNF_GO|id=GO:0042802 |text = identical protein binding}} {{GNF_GO|id=GO:0046872 |text = metal ion binding}}
| Component = {{GNF_GO|id=GO:0005737 |text = cytoplasm}} {{GNF_GO|id=GO:0005739 |text = mitochondrion}}
| Process = {{GNF_GO|id=GO:0006520 |text = amino acid metabolic process}} {{GNF_GO|id=GO:0006559 |text = L-phenylalanine catabolic process}} {{GNF_GO|id=GO:0006729 |text = tetrahydrobiopterin biosynthetic process}} {{GNF_GO|id=GO:0007417 |text = central nervous system development}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 5805
    | Hs_Ensembl = ENSG00000150787
    | Hs_RefseqProtein = NP_000308
    | Hs_RefseqmRNA = NM_000317
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 11
    | Hs_GenLoc_start = 111602309
    | Hs_GenLoc_end = 111609903
    | Hs_Uniprot = Q03393
    | Mm_EntrezGene = 19286
    | Mm_Ensembl = ENSMUSG00000032067
    | Mm_RefseqmRNA = NM_011220
    | Mm_RefseqProtein = NP_035350
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 9
    | Mm_GenLoc_start = 50273848
    | Mm_GenLoc_end = 50280880
    | Mm_Uniprot = Q9R1Z7
  }}
}}
'''6-pyruvoyltetrahydropterin synthase''', also known as '''PTS''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: PTS 6-pyruvoyltetrahydropterin synthase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5805| accessdate = }}</ref>


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==See also==
* [[6-pyruvoyltetrahydropterin synthase]]
* [[6-Pyruvoyltetrahydropterin synthase deficiency]]


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Werner ER, Werner-Felmayer G, Fuchs D, ''et al.'' |title=Biochemistry and function of pteridine synthesis in human and murine macrophages. |journal=Pathobiology |volume=59 |issue= 4 |pages= 276-9 |year= 1991 |pmid= 1883524 |doi= }}
*{{cite journal  | author=Werner ER |title=Biochemistry and function of pteridine synthesis in human and murine macrophages |journal=Pathobiology |volume=59 |issue= 4 |pages= 276–9 |year= 1991 |pmid= 1883524 |doi=10.1159/000163662 |name-list-format=vanc| author2=Werner-Felmayer G  | author3=Fuchs D  | display-authors=3  | last4=Hausen  | first4=A.  | last5=Reibnegger  | first5=R.  | last6=Yim  | first6=J.J. | last7=Wachter  | first7=H. }}
*{{cite journal | author=Thöny B, Blau N |title=Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes. |journal=Hum. Mutat. |volume=10 |issue= 1 |pages= 11-20 |year= 1997 |pmid= 9222755 |doi= 10.1002/(SICI)1098-1004(1997)10:1<11::AID-HUMU2>3.0.CO;2-P }}
*{{cite journal  |vauthors=Thöny B, Blau N |title=Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes |journal=Hum. Mutat. |volume=10 |issue= 1 |pages= 11–20 |year= 1997 |pmid= 9222755 |doi= 10.1002/(SICI)1098-1004(1997)10:1<11::AID-HUMU2>3.0.CO;2-P }}
*{{cite journal  | author=Thöny B, Auerbach G, Blau N |title=Tetrahydrobiopterin biosynthesis, regeneration and functions. |journal=Biochem. J. |volume=347 Pt 1 |issue= |pages= 1-16 |year= 2000 |pmid= 10727395 |doi= }}
*{{cite journal  |vauthors=Thöny B, Auerbach G, Blau N |title=Tetrahydrobiopterin biosynthesis, regeneration and functions |journal=Biochem. J. |volume=347 | issue = 1 |pages= 1–16 |year= 2000 |pmid= 10727395 |doi=10.1042/0264-6021:3470001  | pmc=1220924 }}
*{{cite journal  | author=Thöny B, Leimbacher W, Bürgisser D, Heizmann CW |title=Human 6-pyruvoyltetrahydropterin synthase: cDNA cloning and heterologous expression of the recombinant enzyme. |journal=Biochem. Biophys. Res. Commun. |volume=189 |issue= 3 |pages= 1437-43 |year= 1993 |pmid= 1282802 |doi=  }}
*{{cite journal  |vauthors=Thöny B, Leimbacher W, Bürgisser D, Heizmann CW |title=Human 6-pyruvoyltetrahydropterin synthase: cDNA cloning and heterologous expression of the recombinant enzyme |journal=Biochem. Biophys. Res. Commun. |volume=189 |issue= 3 |pages= 1437–43 |year= 1993 |pmid= 1282802 |doi=10.1016/0006-291X(92)90235-D }}
*{{cite journal  | author=Scriver CR, Clow CL, Kaplan P, Niederwieser A |title=Hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. Unusual gene dosage effect in heterozygotes. |journal=Hum. Genet. |volume=77 |issue= 2 |pages= 168-71 |year= 1987 |pmid= 3308682 |doi=  }}
*{{cite journal  |vauthors=Scriver CR, Clow CL, Kaplan P, Niederwieser A |title=Hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. Unusual gene dosage effect in heterozygotes |journal=Hum. Genet. |volume=77 |issue= 2 |pages= 168–71 |year= 1987 |pmid= 3308682 |doi=10.1007/BF00272386 }}
*{{cite journal  | author=Oppliger T, Thöny B, Nar H, ''et al.'' |title=Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in humans. Phosphorylation is a requirement for in vivo activity. |journal=J. Biol. Chem. |volume=270 |issue= 49 |pages= 29498-506 |year= 1996 |pmid= 7493990 |doi=  }}
*{{cite journal  | author=Oppliger T |title=Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in humans. Phosphorylation is a requirement for in vivo activity |journal=J. Biol. Chem. |volume=270 |issue= 49 |pages= 29498–506 |year= 1996 |pmid= 7493990 |doi=10.1074/jbc.270.49.29498  |name-list-format=vanc| author2=Thöny B | author3=Nar H  | display-authors=3  | last4=Bürgisser  | first4=D  | last5=Huber  | first5=R  | last6=Heizmann  | first6=CW  | last7=Blau  | first7=N }}
*{{cite journal  | author=Ashida A, Owada M, Hatakeyama K |title=A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia. |journal=Genomics |volume=24 |issue= 2 |pages= 408-10 |year= 1995 |pmid= 7698774 |doi= 10.1006/geno.1994.1642 }}
*{{cite journal  |vauthors=Ashida A, Owada M, Hatakeyama K |title=A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia |journal=Genomics |volume=24 |issue= 2 |pages= 408–10 |year= 1995 |pmid= 7698774 |doi= 10.1006/geno.1994.1642 }}
*{{cite journal  | author=Thöny B, Leimbacher W, Blau N, ''et al.'' |title=Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase. |journal=Am. J. Hum. Genet. |volume=54 |issue= 5 |pages= 782-92 |year= 1994 |pmid= 8178819 |doi=  }}
*{{cite journal  | author=Thöny B |title=Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase |journal=Am. J. Hum. Genet. |volume=54 |issue= 5 |pages= 782–92 |year= 1994 |pmid= 8178819 |doi= | pmc=1918260  |name-list-format=vanc| author2=Leimbacher W  | author3=Blau N  | display-authors=3  | last4=Harvie  | first4=A  | last5=Heizmann  | first5=CW }}
*{{cite journal  | author=Thöny B, Heizmann CW, Mattei MG |title=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. |journal=Genomics |volume=19 |issue= 2 |pages= 365-8 |year= 1994 |pmid= 8188266 |doi= 10.1006/geno.1994.1071 }}
*{{cite journal  |vauthors=Thöny B, Heizmann CW, Mattei MG |title=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 |journal=Genomics |volume=19 |issue= 2 |pages= 365–8 |year= 1994 |pmid= 8188266 |doi= 10.1006/geno.1994.1071 }}
*{{cite journal  | author=Ashida A, Hatakeyama K, Kagamiyama H |title=cDNA cloning, expression in Escherichia coli and purification of human 6-pyruvoyl-tetrahydropterin synthase. |journal=Biochem. Biophys. Res. Commun. |volume=195 |issue= 3 |pages= 1386-93 |year= 1993 |pmid= 8216273 |doi= 10.1006/bbrc.1993.2197 }}
*{{cite journal  |vauthors=Ashida A, Hatakeyama K, Kagamiyama H |title=cDNA cloning, expression in Escherichia coli and purification of human 6-pyruvoyl-tetrahydropterin synthase |journal=Biochem. Biophys. Res. Commun. |volume=195 |issue= 3 |pages= 1386–93 |year= 1993 |pmid= 8216273 |doi= 10.1006/bbrc.1993.2197 }}
*{{cite journal  | author=Liu TT, Hsiao KJ |title=Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency. |journal=Hum. Genet. |volume=98 |issue= 3 |pages= 313-6 |year= 1996 |pmid= 8707300 |doi=  }}
*{{cite journal  |vauthors=Liu TT, Hsiao KJ |title=Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency |journal=Hum. Genet. |volume=98 |issue= 3 |pages= 313–6 |year= 1996 |pmid= 8707300 |doi=10.1007/s004390050213  }}
*{{cite journal  | author=Kluge C, Brecevic L, Heizmann CW, ''et al.'' |title=Chromosomal localization, genomic structure and characterization of the human gene and a retropseudogene for 6-pyruvoyltetrahydropterin synthase. |journal=Eur. J. Biochem. |volume=240 |issue= 2 |pages= 477-84 |year= 1996 |pmid= 8841415 |doi= }}
*{{cite journal  | author=Kluge C |title=Chromosomal localization, genomic structure and characterization of the human gene and a retropseudogene for 6-pyruvoyltetrahydropterin synthase |journal=Eur. J. Biochem. |volume=240 |issue= 2 |pages= 477–84 |year= 1996 |pmid= 8841415 |doi=10.1111/j.1432-1033.1996.0477h.x  |name-list-format=vanc| author2=Brecevic L | author3=Heizmann CW  | display-authors=3  | last4=Blau  | first4=Nenad  | last5=Thony  | first5=Beat  }}
*{{cite journal  | author=Hanihara T, Inoue K, Kawanishi C, ''et al.'' |title=6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study. |journal=Mov. Disord. |volume=12 |issue= 3 |pages= 408-11 |year= 1997 |pmid= 9159737 |doi= 10.1002/mds.870120321 }}
*{{cite journal  | author=Hanihara T |title=6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study |journal=Mov. Disord. |volume=12 |issue= 3 |pages= 408–11 |year= 1997 |pmid= 9159737 |doi= 10.1002/mds.870120321  |name-list-format=vanc| author2=Inoue K  | author3=Kawanishi C  | display-authors=3  | last4=Sugiyama  | first4=N.  | last5=Miyakawa  | first5=T. | last6=Onishi  | first6=H. | last7=Yamada  | first7=Y.  | last8=Osaka  | first8=H.  | last9=Kosaka  | first9=K. }}
*{{cite journal  | author=Oppliger T, Thöny B, Kluge C, ''et al.'' |title=Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families. |journal=Hum. Mutat. |volume=10 |issue= 1 |pages= 25-35 |year= 1997 |pmid= 9222757 |doi= 10.1002/(SICI)1098-1004(1997)10:1<25::AID-HUMU4>3.0.CO;2-L }}
*{{cite journal  | author=Oppliger T |title=Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families |journal=Hum. Mutat. |volume=10 |issue= 1 |pages= 25–35 |year= 1997 |pmid= 9222757 |doi= 10.1002/(SICI)1098-1004(1997)10:1<25::AID-HUMU4>3.0.CO;2-L  |name-list-format=vanc| author2=Thöny B  | author3=Kluge C  | display-authors=3  | last4=Matasovic  | first4=Ana  | last5=Heizmann  | first5=Claus W.  | last6=Ponzone  | first6=Alberto  | last7=Spada  | first7=Marco  | last8=Blau  | first8=Nenad }}
*{{cite journal  | author=Liu TT, Hsiao KJ, Lu SF, ''et al.'' |title=Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency. |journal=Hum. Mutat. |volume=11 |issue= 1 |pages= 76-83 |year= 1998 |pmid= 9450907 |doi= 10.1002/(SICI)1098-1004(1998)11:1<76::AID-HUMU12>3.0.CO;2-W }}
*{{cite journal  | author=Liu TT |title=Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency |journal=Hum. Mutat. |volume=11 |issue= 1 |pages= 76–83 |year= 1998 |pmid= 9450907 |doi= 10.1002/(SICI)1098-1004(1998)11:1<76::AID-HUMU12>3.0.CO;2-W  |name-list-format=vanc| author2=Hsiao KJ  | author3=Lu SF  | display-authors=3  | last4=Wu  | first4=Sheu-Jen  | last5=Wu  | first5=Kuei-Fen  | last6=Chiang  | first6=Szu-Hui  | last7=Liu  | first7=Xiao-Quing  | last8=Chen  | first8=Rui-Guan  | last9=Yu  | first9=Wei-Min }}
*{{cite journal | author=Scherer-Oppliger T, Matasovic A, Laufs S, ''et al.'' |title=Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia. |journal=Hum. Mutat. |volume=13 |issue= 4 |pages= 286-9 |year= 1999 |pmid= 10220141 |doi= 10.1002/(SICI)1098-1004(1999)13:4<286::AID-HUMU4>3.0.CO;2-C }}
*{{cite journal  | author=Scherer-Oppliger T |title=Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia |journal=Hum. Mutat. |volume=13 |issue= 4 |pages= 286–9 |year= 1999 |pmid= 10220141 |doi= 10.1002/(SICI)1098-1004(1999)13:4<286::AID-HUMU4>3.0.CO;2-C  |name-list-format=vanc| author2=Matasovic A  | author3=Laufs S  | display-authors=3  | last4=Levy  | first4=Harvey L.  | last5=Quackenbush  | first5=Elisabeth J.  | last6=Blau  | first6=Nenad  | last7=Th�Ny  | first7=Beat }}
*{{cite journal | author=Scherer-Oppliger T, Leimbacher W, Blau N, Thöny B |title=Serine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase II. |journal=J. Biol. Chem. |volume=274 |issue= 44 |pages= 31341-8 |year= 1999 |pmid= 10531334 |doi= }}
*{{cite journal  |vauthors=Scherer-Oppliger T, Leimbacher W, Blau N, Thöny B |title=Serine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase II |journal=J. Biol. Chem. |volume=274 |issue= 44 |pages= 31341–8 |year= 1999 |pmid= 10531334 |doi=10.1074/jbc.274.44.31341  }}
*{{cite journal  | author=Kim ST, Lim DS, Canman CE, Kastan MB |title=Substrate specificities and identification of putative substrates of ATM kinase family members. |journal=J. Biol. Chem. |volume=274 |issue= 53 |pages= 37538-43 |year= 2000 |pmid= 10608806 |doi= }}
*{{cite journal  |vauthors=Kim ST, Lim DS, Canman CE, Kastan MB |title=Substrate specificities and identification of putative substrates of ATM kinase family members |journal=J. Biol. Chem. |volume=274 |issue= 53 |pages= 37538–43 |year= 2000 |pmid= 10608806 |doi=10.1074/jbc.274.53.37538  }}
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{{Metabolism of vitamins, coenzymes, and cofactors}}
 
 
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Revision as of 18:59, 7 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

6-pyruvoyltetrahydropterin synthase, also known as PTS, is a human gene which facilitates folate biosynthesis.[1]


See also

References

  1. ↑ "Entrez Gene: PTS 6-pyruvoyltetrahydropterin synthase".

Further reading



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