Property Summary

NCBI Gene PubMed Count 48
PubMed Score 1907.83
PubTator Score 194.48

Knowledge Summary


No data available


  Differential Expression (9)

Disease log2 FC p
Multiple myeloma 1.326 0.003
astrocytoma -2.200 0.002
ependymoma -1.200 0.045
oligodendroglioma -1.300 0.022
hereditary spastic paraplegia -1.277 0.002
pancreatic ductal adenocarcinoma liver m... -1.235 0.001
non-small cell lung cancer 1.017 0.000
lung cancer 1.300 0.008
ovarian cancer 2.500 0.000


Accession Q03393 B0YJ87 Q8WVG8 PTP synthase
Symbols PTPS





  Ortholog (13)

Gene RIF (16)

22237589 A total of 43 mutations were identified in the PTS gene in a screen of East Asian populations, comprising 22 previously reported mutations and 21 new discovered mutations.
20877624 Observational study of gene-disease association. (HuGE Navigator)
19830588 Severe neurological impairment from BH4 deficiency could be prevented by newborn screening for hyperphenylalaninemia (HPA) and proper metabolic management.
19674121 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19491146 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19360691 Observational study of gene-disease association. (HuGE Navigator)
19350512 Observational study of gene-disease association. (HuGE Navigator)
18505119 The mutant characterization of PTPS gene was coincident with other early studies in Chinese. The novel mutation L127F was considered as a pathogenetic mutation and associated with severe clinical phenotype.
17590551 We suggest that the serum prolactin level may be a more sensitive marker than the CSF HVA level to guide the dose adjustment of L-Dopa/carbidopa in the management of patients with PTPS deficiency.
17407085 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

VYKGE                                                                     141 - 145

Text Mined References (55)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22237589 2012 Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations.
21516116 2011 Next-generation sequencing to generate interactome datasets.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19830588 2009 Novel mutation affecting the pterin-binding site of PTS gene and review of PTS mutations in Thai patients with 6-pyruvoyltetrahydropterin synthase deficiency.
19674121 2009 Examination of tetrahydrobiopterin pathway genes in autism.
19491146 2009 Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.