Details for: PTS

Gene ID: 5805

Symbol: PTS

Ensembl ID: ENSG00000150787

Description: 6-pyruvoyltetrahydropterin synthase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 247.9343
    Cell Significance Index: -38.5700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 165.0940
    Cell Significance Index: -41.8800
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 99.4301
    Cell Significance Index: -40.9600
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 89.0658
    Cell Significance Index: -42.0500
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 87.9985
    Cell Significance Index: -35.7500
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 79.2013
    Cell Significance Index: -40.7400
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 62.7103
    Cell Significance Index: -42.0800
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 37.4656
    Cell Significance Index: -35.7700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 34.9161
    Cell Significance Index: -43.0500
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 14.0620
    Cell Significance Index: -37.6700
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 11.1656
    Cell Significance Index: -44.0600
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 9.5622
    Cell Significance Index: -29.3700
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 7.9869
    Cell Significance Index: -17.4800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 4.1836
    Cell Significance Index: 112.1000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 2.7174
    Cell Significance Index: 187.9300
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.4254
    Cell Significance Index: 24.0100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.3724
    Cell Significance Index: 71.2900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.3531
    Cell Significance Index: 35.5800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.3228
    Cell Significance Index: 215.1400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.1181
    Cell Significance Index: 52.1300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.9836
    Cell Significance Index: 46.2300
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 0.9821
    Cell Significance Index: 10.4400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.9343
    Cell Significance Index: 25.4300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.9121
    Cell Significance Index: 498.1400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.8108
    Cell Significance Index: 162.6500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.7187
    Cell Significance Index: 32.5800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.6567
    Cell Significance Index: 235.5400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.6487
    Cell Significance Index: 48.3500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.6196
    Cell Significance Index: 80.0500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.5777
    Cell Significance Index: 104.1400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.5704
    Cell Significance Index: 15.2300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.5562
    Cell Significance Index: 31.2100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.5364
    Cell Significance Index: 106.4500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.4897
    Cell Significance Index: 60.2100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.4431
    Cell Significance Index: 52.2500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.4100
    Cell Significance Index: 21.5300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.4084
    Cell Significance Index: 41.7200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.3933
    Cell Significance Index: 173.8700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3885
    Cell Significance Index: 73.9300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.3789
    Cell Significance Index: 23.2900
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.3578
    Cell Significance Index: 3.3000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.3539
    Cell Significance Index: 9.8900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.3401
    Cell Significance Index: 46.7000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.3335
    Cell Significance Index: 42.7500
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.3217
    Cell Significance Index: 3.9900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.3168
    Cell Significance Index: 11.0100
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.3129
    Cell Significance Index: 7.2300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3086
    Cell Significance Index: 8.8900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.2729
    Cell Significance Index: 19.3000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2497
    Cell Significance Index: 5.4100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.2190
    Cell Significance Index: 337.0700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.1805
    Cell Significance Index: 332.8800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1464
    Cell Significance Index: 14.4800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1146
    Cell Significance Index: 215.6900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.1061
    Cell Significance Index: 8.1500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0986
    Cell Significance Index: 62.6500
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.0874
    Cell Significance Index: 1.7100
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.0738
    Cell Significance Index: 1.0500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0618
    Cell Significance Index: 10.5500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0519
    Cell Significance Index: 23.5700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0343
    Cell Significance Index: 0.7300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0320
    Cell Significance Index: 43.4800
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.0260
    Cell Significance Index: 0.3900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0255
    Cell Significance Index: 18.7100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0055
    Cell Significance Index: 4.2000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0001
    Cell Significance Index: -0.0400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0041
    Cell Significance Index: -0.0700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0321
    Cell Significance Index: -20.0200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0378
    Cell Significance Index: -21.2900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0415
    Cell Significance Index: -2.7900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0425
    Cell Significance Index: -2.7400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: -0.0472
    Cell Significance Index: -32.6200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0575
    Cell Significance Index: -2.0200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0601
    Cell Significance Index: -1.0100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0712
    Cell Significance Index: -4.4900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0770
    Cell Significance Index: -16.2100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0906
    Cell Significance Index: -10.3900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1007
    Cell Significance Index: -28.9800
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.1048
    Cell Significance Index: -1.4700
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1095
    Cell Significance Index: -3.1400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1106
    Cell Significance Index: -2.3200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1190
    Cell Significance Index: -17.3000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.1437
    Cell Significance Index: -1.9600
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: -0.2226
    Cell Significance Index: -1.3700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2313
    Cell Significance Index: -26.9600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2883
    Cell Significance Index: -22.8300
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.2990
    Cell Significance Index: -7.1700
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.3136
    Cell Significance Index: -35.8000
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.3293
    Cell Significance Index: -4.8600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3513
    Cell Significance Index: -36.5800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3528
    Cell Significance Index: -11.3000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.4099
    Cell Significance Index: -18.1300
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.4433
    Cell Significance Index: -2.8900
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.4538
    Cell Significance Index: -5.4100
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.4722
    Cell Significance Index: -3.7700
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.4937
    Cell Significance Index: -14.5000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.5653
    Cell Significance Index: -21.4100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.6107
    Cell Significance Index: -31.8100
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.6196
    Cell Significance Index: -18.2500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.6855
    Cell Significance Index: -42.0300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** 1. **Enzymatic function**: PTS is a pyridoxal phosphate-dependent enzyme that catalyzes the condensation of 6-pyruvoyl tetrahydropterin and glycine to form BH4. 2. **BH4 biosynthesis**: The PTS enzyme is essential for the biosynthesis of BH4, which is a critical cofactor in various enzymatic reactions. 3. **Tissue-specific expression**: The PTS gene is highly expressed in cells of the central nervous system, adrenal glands, kidneys, and the peripheral nervous system. 4. **Regulation of BH4 levels**: PTS is involved in the regulation of BH4 levels, which is essential for maintaining proper enzyme function and cellular homeostasis. **Pathways and Functions** 1. **Tetrahydrobiopterin biosynthetic process**: PTS is involved in the biosynthesis of BH4, which is a critical cofactor in various enzymatic reactions, including those involved in nitric oxide production, dopamine synthesis, and phenylalanine hydroxylation. 2. **Amino acid metabolic process**: PTS is involved in the metabolism of amino acids, including phenylalanine, tyrosine, and tryptophan, which are converted to BH4. 3. **Central nervous system development**: PTS is highly expressed in cells involved in the development of the central nervous system, suggesting its importance in neural development and function. 4. **Mitochondrial function**: PTS is localized to the mitochondria, where it plays a crucial role in maintaining mitochondrial function and energy production. **Clinical Significance** 1. **Neurological disorders**: Mutations in the PTS gene have been linked to neurological disorders, including Parkinson's disease, schizophrenia, and bipolar disorder. 2. **Phenylketonuria (PKU)**: PTS is involved in the metabolism of phenylalanine, and mutations in the PTS gene can lead to PKU, a genetic disorder characterized by elevated phenylalanine levels. 3. **Dysregulation of BH4 levels**: Dysregulation of BH4 levels has been implicated in various diseases, including cancer, cardiovascular disease, and neurodegenerative disorders. 4. **Potential therapeutic targets**: The PTS gene and its products may serve as potential therapeutic targets for the treatment of neurological disorders and other diseases characterized by BH4 dysregulation. In conclusion, the 6-pyruvoyltetrahydropterin synthase gene plays a critical role in the biosynthesis of tetrahydrobiopterin, a vital cofactor in various enzymatic reactions. Its dysregulation has been implicated in various diseases, and its products may serve as potential therapeutic targets. Further research is necessary to fully elucidate the role of PTS in human disease and to develop effective therapeutic strategies.

Genular Protein ID: 3300486047

Symbol: PTPS_HUMAN

Name: 6-pyruvoyl tetrahydrobiopterin synthase

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 1282802

Title: Human 6-pyruvoyltetrahydropterin synthase: cDNA cloning and heterologous expression of the recombinant enzyme.

PubMed ID: 1282802

DOI: 10.1016/0006-291x(92)90235-d

PubMed ID: 8216273

Title: cDNA cloning, expression in Escherichia coli and purification of human 6-pyruvoyl-tetrahydropterin synthase.

PubMed ID: 8216273

DOI: 10.1006/bbrc.1993.2197

PubMed ID: 7698774

Title: A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia.

PubMed ID: 7698774

DOI: 10.1006/geno.1994.1642

PubMed ID: 8841415

Title: Chromosomal localization, genomic structure and characterization of the human gene and a retropseudogene for 6-pyruvoyltetrahydropterin synthase.

PubMed ID: 8841415

DOI: 10.1111/j.1432-1033.1996.0477h.x

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 10531334

Title: Serine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase II.

PubMed ID: 10531334

DOI: 10.1074/jbc.274.44.31341

PubMed ID: 9222755

Title: Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes.

PubMed ID: 9222755

DOI: 10.1002/(sici)1098-1004(1997)10:1<11::aid-humu2>3.0.co;2-p

PubMed ID: 8178819

Title: Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase.

PubMed ID: 8178819

PubMed ID: 7493990

Title: Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in humans. Phosphorylation is a requirement for in vivo activity.

PubMed ID: 7493990

DOI: 10.1074/jbc.270.49.29498

PubMed ID: 8707300

Title: Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency.

PubMed ID: 8707300

DOI: 10.1007/s004390050213

PubMed ID: 9222757

Title: Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families.

PubMed ID: 9222757

DOI: 10.1002/(sici)1098-1004(1997)10:1<25::aid-humu4>3.0.co;2-l

PubMed ID: 9159737

Title: 6-pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study.

PubMed ID: 9159737

DOI: 10.1002/mds.870120321

PubMed ID: 9450907

Title: Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency.

PubMed ID: 9450907

DOI: 10.1002/(sici)1098-1004(1998)11:1<76::aid-humu12>3.0.co;2-w

PubMed ID: 10585341

Title: Single-step mutation scanning of the 6-pyruvoyltetrahydropterin synthase gene in patients with hyperphenylalaninemia.

PubMed ID: 10585341

PubMed ID: 10220141

Title: Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia.

PubMed ID: 10220141

DOI: 10.1002/(sici)1098-1004(1999)13:4<286::aid-humu4>3.0.co;2-c

PubMed ID: 10874306

Title: Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS.

PubMed ID: 10874306

DOI: 10.1002/1098-1004(200007)16:1<54::aid-humu10>3.0.co;2-c

PubMed ID: 11388593

Title: Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency.

PubMed ID: 11388593

DOI: 10.1007/s004310000722

Sequence Information:

  • Length: 145
  • Mass: 16386
  • Checksum: A1CD0DC2F83187E0
  • Sequence:
  • MSTEGGGRRC QAQVSRRISF SASHRLYSKF LSDEENLKLF GKCNNPNGHG HNYKVVVTVH 
    GEIDPATGMV MNLADLKKYM EEAIMQPLDH KNLDMDVPYF ADVVSTTENV AVYIWDNLQK 
    VLPVGVLYKV KVYETDNNIV VYKGE

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.