Property Summary

NCBI Gene PubMed Count 58
Grant Count 249
R01 Count 180
Funding $45,553,620.3
PubMed Score 1111.14
PubTator Score 298.41

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession P10619 B2R798 Q561W6 Q5JZH1 Q96KJ2 Q9BR08 Q9BW68
Symbols GSL
GLB2
NGBE
PPCA
PPGB

Gene

PANTHER Protein Class (3)

PDB

3BP4   3BP7   3BXN   1IVY   4AZ0   4AZ3   4CI9   4CIA   4CIB   4MWS   4MWT  

MLP Assay (2)

AID Type Active / Inconclusive / Inactive Description
651979 other 1 / 0 / 0 Late stage assay provider results from the probe development effort to identify selective inhibitors of LYPLA1: LCMS-based cell-based Activity-Based Protein Profiling (ABPP) SILAC selectivity analysis in situ
651980 other 1 / 0 / 0 Late stage assay provider results from the probe development effort to identify selective inhibitors of LYPLA2: LCMS-based cell-based Activity-Based Protein Profiling (ABPP) SILAC selectivity analysis in situ

Gene RIF (12)

PMID Text
26259553 Galactosialidosis is a rare lysosomal storage disease caused by a combined deficiency of GM1 beta-galactosidase (beta-gal) and neuraminidase secondary to a defect of a lysosomal enzyme protective protein/cathepsin A (PPCA) and mutation in CTSA gene.
25075748 Case Report: galactosialidosis with novel mutations of CTSA gene diagnosed using placental pathology.
24769197 We identified compound heterozygous mutations in the CTSA gene, responsible for causing galactosialidosis
23915561 correct nomenclature of mutations for this gene is discussed; clinical and mutational analyses of 4 cases with rare infantile form of galactosialidosis; identified 3 novel nucleotide changes, 2 resulting in missense mutations and the third, resulting in the p.Gln406* stop codon; complexity of the clinical phenotypes in GS reflects dual functions of PPCA/CTSA
23874603 A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of cathepsin A (CTSA, lysosomal protective protein) expression by HIV-1 Vpr in Vpr transduced macrophages
23495688 Catalytic function, tissue distribution and substrates of cathepsin A are discussed as well as inhibition of cathepsin A as an emerging strategy for the treatment of heart failure.
22532132 The Cathepsin C releases the glycosidases from complexes formed with cathepsin A, and reinstates their activity.
19954752 Our data suggest that CatA is involved in the C-terminal fine-tuning of antigenic T cell epitopes in human APC.
19666471 Results describe the hydrodynamic properties of PPCA, NEU1, and a complex of the two proteins and identified multiple binding sites on both proteins.
16538002 effects of GLB1, PPCA and NEU1 gene mutations on elastogenesis in skin fibroblasts
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AA Sequence

MIRAAPPPLFLLLLLLLLLVSWASRGEAAPDQDEIQRLPGLAKQPSFRQYSGYLKGSGSKHLHYWFVESQ      1 - 70
KDPENSPVVLWLNGGPGCSSLDGLLTEHGPFLVQPDGVTLEYNPYSWNLIANVLYLESPAGVGFSYSDDK     71 - 140
FYATNDTEVAQSNFEALQDFFRLFPEYKNNKLFLTGESYAGIYIPTLAVLVMQDPSMNLQGLAVGNGLSS    141 - 210
YEQNDNSLVYFAYYHGLLGNRLWSSLQTHCCSQNKCNFYDNKDLECVTNLQEVARIVGNSGLNIYNLYAP    211 - 280
CAGGVPSHFRYEKDTVVVQDLGNIFTRLPLKRMWHQALLRSGDKVRMDPPCTNTTAASTYLNNPYVRKAL    281 - 350
NIPEQLPQWDMCNFLVNLQYRRLYRSMNSQYLKLLSSQKYQILLYNGDVDMACNFMGDEWFVDSLNQKME    351 - 420
VQRRPWLVKYGDSGEQIAGFVKEFSHIAFLTIKGAGHMVPTDKPLAAFTMFSRFLNKQPY              421 - 480
//

Text Mined References (61)

PMID Year Title
26259553 2016 Chemical chaperone treatment for galactosialidosis: Effect of NOEV on ?-galactosidase activities in fibroblasts.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25075748 A case of galactosialidosis with novel mutations of the protective protein/cathepsin a gene: diagnosis prompted by trophoblast vacuolization on placental examination.
24769197 2014 Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.
24337808 2014 Lysosomal multienzyme complex: pros and cons of working together.
23915561 2013 Galactosialidosis: review and analysis of CTSA gene mutations.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23495688 2013 Inhibition of CatA: an emerging strategy for the treatment of heart failure.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22532132 2012 Role of cathepsin A and cathepsin C in the regulation of glycosidase activity.
More...