Property Summary

NCBI Gene PubMed Count 48
Grant Count 518
R01 Count 353
Funding $63,392,771.31
PubMed Score 1907.83
PubTator Score 194.48

Knowledge Summary

Patent

No data available

Expression

  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

Synonym

Accession Q03393 B0YJ87 Q8WVG8 PTP synthase
Symbols PTPS

Gene

PTS

PDB

3I2B  

Gene RIF (16)

PMID Text
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)
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AA Sequence

MSTEGGGRRCQAQVSRRISFSASHRLYSKFLSDEENLKLFGKCNNPNGHGHNYKVVVTVHGEIDPATGMV      1 - 70
MNLADLKKYMEEAIMQPLDHKNLDMDVPYFADVVSTTENVAVYIWDNLQKVLPVGVLYKVKVYETDNNIV     71 - 140
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.
More...