Gene: PTS (6-pyruvoyltetrahydropterin synthase)
Homo sapiens
Symbol:
PTS
Name:
6-pyruvoyltetrahydropterin synthase
Description:
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]
Type:
protein-coding
RefSeq Status:
REVIEWED
Also known as:
6-pyruvoyl tetrahydrobiopterin synthase; 6-pyruvoyl-tetrahydropterin synthase; FLJ97081; OTTHUMP00000235385; PTP synthase; PTPS
Orthologs:
Mus musculus : Pts
(6-pyruvoyl-tetrahydropterin synthase)
MGI
Pts
(6-pyruvoyl-tetrahydropterin synthase)
Latest Assembly:
Human Genome Assembly GRCh37
Position:
Map Chr Position Strand Source Human Alternate Assembly CHM1_1 11 111,960,640 - 111,968,247 + NCBI Human Genome Assembly HuRef 11 108,022,655 - 108,030,262 + NCBI Human Genome Assembly GRCh37 11 112,097,088 - 112,104,696 + NCBI Human Genome Assembly Build 36 11 111,602,309 - 111,609,903 + NCBI Human Cytogenetic Map 11 q22.3 NCBI Human Genome Assembly 11 111,602,308 - 111,609,903 NCBI
Model
Disease Annotations
Gene-Chemical Interaction Annotations
17alpha-ethynylestradiol affects expression ISO RGD:68526 6480464 Ethinyl Estradiol affects the expression of PTS mRNA CTD PMID:17555576 17alpha-ethynylestradiol multiple interactions ISO RGD:68526 6480464 [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PTS mRNA CTD PMID:17942748 17alpha-ethynylestradiol increases expression ISO RGD:68526 6480464 Ethinyl Estradiol results in increased expression of PTS mRNA CTD PMID:17942748 17beta-hydroxy-5alpha-androstan-3-one increases expression EXP 6480464 Dihydrotestosterone results in increased expression of PTS mRNA CTD PMID:16631469 2,3,7,8-tetrachlorodibenzodioxine multiple interactions ISO RGD:68526 6480464 [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PTS mRNA CTD PMID:17942748 2,3,7,8-tetrachlorodibenzodioxine affects expression ISO RGD:68526 6480464 Tetrachlorodibenzodioxin affects the expression of PTS mRNA CTD PMID:21570461 8-bromo-3',5'-cyclic AMP increases expression EXP 6480464 8-Bromo Cyclic Adenosine Monophosphate results in increased expression of PTS mRNA CTD PMID:22079614 ammonium chloride affects expression ISO RGD:68367 6480464 Ammonium Chloride affects the expression of PTS mRNA CTD PMID:16483693 benzo[a]pyrene multiple interactions ISO RGD:68526 6480464 [Benzo(a)pyrene co-treated with XPA gene mutant form co-treated with TRP53 gene mutant form] results in increased expression of PTS mRNA CTD PMID:21715664 benzo[a]pyrene increases expression EXP 6480464 Benzo(a)pyrene results in increased expression of PTS mRNA CTD PMID:21632981 copper(2+) sulfate increases expression EXP 6480464 Copper Sulfate results in increased expression of PTS mRNA CTD PMID:19549813 dibutyl phthalate decreases expression ISO RGD:68526 6480464 Dibutyl Phthalate results in decreased expression of PTS mRNA CTD PMID:21266533 hydrogen peroxide affects expression EXP 6480464 Hydrogen Peroxide affects the expression of PTS mRNA CTD PMID:20044591 isotretinoin decreases expression EXP 6480464 Isotretinoin results in decreased expression of PTS mRNA CTD PMID:20436886 naphthalene decreases expression ISO RGD:68526 6480464 naphthalene results in decreased expression of PTS protein CTD PMID:19438287 paracetamol affects expression ISO RGD:68526 6480464 Acetaminophen affects the expression of PTS mRNA CTD PMID:17562736 pirinixic acid increases expression ISO RGD:68367 6480464 pirinixic acid results in increased expression of PTS mRNA CTD PMID:19162173 reserpine increases expression ISO RGD:68367 6480464 Reserpine results in increased expression of PTS mRNA CTD PMID:7545485 tamoxifen affects expression ISO RGD:68526 6480464 Tamoxifen affects the expression of PTS mRNA CTD PMID:17555576 valproic acid affects expression ISO RGD:68526 6480464 Valproic Acid affects the expression of PTS mRNA CTD PMID:17292431 zinc atom decreases expression EXP 6480464 Zinc results in decreased expression of PTS mRNA CTD PMID:15226459 zinc sulfate decreases expression EXP 6480464 Zinc Sulfate results in decreased expression of PTS mRNA CTD PMID:15226459 zinc(0) decreases expression EXP 6480464 Zinc results in decreased expression of PTS mRNA CTD PMID:15226459
Biological Process cellular amino acid metabolic process TAS 2290271 PMID:3308682 PINC PMID:3308682 central nervous system development TAS 2290271 PMID:3308682 PINC PMID:3308682 nitric oxide metabolic process TAS 2290271 Reactome:REACT_12508 Reactome Reactome:REACT_12508 regulation of nitric-oxide synthase activity TAS 2290271 Reactome:REACT_12389 Reactome Reactome:REACT_12389 small molecule metabolic process TAS 2290271 Reactome:REACT_111217 Reactome Reactome:REACT_111217 tetrahydrobiopterin biosynthetic process IEA UniPathway:UPA00849 2290271 GO_REF:0000041 UniPathway GO_REF:0000041 tetrahydrobiopterin biosynthetic process IEA InterPro:IPR022470 2290271 GO_REF:0000002 InterPro GO_REF:0000002 tetrahydrobiopterin biosynthetic process IEA InterPro:IPR022469 2290271 GO_REF:0000002 InterPro GO_REF:0000002 Cellular Component cytoplasm IDA 2290271 GO_REF:0000054 LIFEdb GO_REF:0000054 cytosol TAS 2290271 Reactome:REACT_111082 Reactome Reactome:REACT_111082 cytosol TAS 2290271 Reactome:REACT_111245 Reactome Reactome:REACT_111245 mitochondrion IEA Ensembl:ENSMUSP00000034570 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 mitochondrion IDA 2290271 GO_REF:0000054 LIFEdb GO_REF:0000054 Molecular Function 6-pyruvoyltetrahydropterin synthase activity IEA Ensembl:ENSMUSP00000034570 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 6-pyruvoyltetrahydropterin synthase activity IEA InterPro:IPR022470 2290271 GO_REF:0000002 InterPro GO_REF:0000002 6-pyruvoyltetrahydropterin synthase activity TAS 2290271 Reactome:REACT_111082 Reactome Reactome:REACT_111082 6-pyruvoyltetrahydropterin synthase activity IEA Ensembl:ENSRNOP00000012434 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 identical protein binding IPI UniProtKB:Q03393 2290271 PMID:16169070 IntAct PMID:16169070 identical protein binding IPI UniProtKB:Q03393 2290271 PMID:16189514 IntAct PMID:16189514 metal ion binding IEA UniProtKB-KW:KW-0479 2290271 GO_REF:0000037 UniProtKB GO_REF:0000037 protein homodimerization activity IEA Ensembl:ENSMUSP00000034570 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019
1298492 BP31_H Blood pressure QTL 31 (human) 2.07 Blood pressure systolic 11 34640077 123626865 Human 2289174 SADIPOQ7_H Serum adiponectin level QTL 7 (human) 4.2 Hormone level adiponectin level 11 58496495 120828264 Human 1357380 BW64_H Body weight QTL 64 (human) 2.2 Body weight percent fat after exercise training 11 75662287 120989875 Human 2289454 BW298_H Body weight QTL 298 (human) 3.35 Body weight body mass index 11 79965403 123626865 Human 2292882 PRSTS94_H Prostate tumor susceptibility QTL 94 (human) Prostate tumor susceptibility 11 88056610 114056610 Human 1357379 BW70_H Body weight QTL 70 (human) .0079 Body weight body mass index 11 92558848 118558848 Human 2289196 BW371_H Body weight QTL371 (human) 2.7 Body fat amount percent fat 11 92558848 118558848 Human 2289206 BW355_H Body weight QTL 355 (human) .0009 Body fat amount percent fat 11 94517717 120517717 Human 1643269 SADIPOQ5_H Serum adiponectin level QTL 5 (human) 2.89 Hormone level serum adiponectin level 11 98223722 124223722 Human 2302761 MAMTS20_H Mammary tumor susceptibility QTL 20 (human) .023 Mammary tumor susceptibility 11 98223722 124223722 Human 2302778 MAMTS21_H Mammary tumor susceptibility QTL 21 (human) .057 Mammary tumor susceptibility 13 98223722 124223722 Human 1559115 SCL20_H Serum cholesterol level QTL 20 (human) 3.22 .001213 Lipid level LDL cholesterol 11 100313159 126313159 Human 2293387 PRSTS275_H Prostate tumor susceptibility QTL 275 (human) Prostate tumor susceptibility 11 102287419 128287419 Human 1298500 RA19_H Rheumatoid arthritis QTL 19 (human) .0258 Joint/bone inflammation rheumatoid arthritis 11 104697838 130697838 Human 2289605 BW474_H Body weight QTL 474 (human) 1.4 Body fat amount abdominal 11 107828366 133828366 Human 2314734 GLUCO83_H Glucose level QTL 83 (human) .8 .041 Glucose level non-insulin dependent 11 107828366 133828366 Human 1559358 SCL91_H Serum cholesterol level QTL 91 (human) 2.03 .001 Lipid level triglyceride 11 109297904 134937540 Human 1559127 SCL54_H Serum cholesterol level QTL 54 (human) 1.93 Lipid level triglyceride 11 110626746 134937540 Human 1643285 SADIPOQ1_H Serum adiponectin level QTL 1 (human) 2.33 Hormone level serum adiponectin level 11 110626746 134937540 Human 1643503 BW290_H Body Weight QTL 290 (human) 2.1 Body weight BMI 11 110626746 134937540 Human 2292836 MYI33_H Myocardial infarction susceptibility QTL 33 (human) Myocardial infarction susceptibility early-onset 11 110626746 134937540 Human 2292856 MYI32_H Myocardial infarction susceptibility QTL 32 (human) Myocardial infarction susceptibility early-onset 11 110626746 134937540 Human 2302752 MAMTS35_H Mammary tumor susceptibility QTL 35 (human) .046 Mammary tumor susceptibility 11 111223605 112132282 Human
Gene-Chemical Interaction Annotations
