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Literature summary for 2.7.8.17 extracted from

  • Di Lorenzo, G.; Voltolini Velho, R.; Winter, D.; Thelen, M.; Ahmadi, S.; Schweizer, M.; De Pace, R.; Cornils, K.; Yorgan, T.A.; Grueb, S.; Hermans-Borgmeyer, I.; Schinke, T.; Mueller-Loennies, S.; Braulke, T.; Pohl, S.
    Lysosomal proteome and secretome analysis identifies missorted enzymes and their nondegraded substrates in mucolipidosis III mouse cells (2018), Mol. Cell. Proteomics, 17, 1612-1626 .
    View publication on PubMedView publication on EuropePMC
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Organism

Organism UniProt Comment Textmining
Mus musculus Q6S5C2 subunit gamma
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Source Tissue

Source Tissue Comment Organism Textmining
brain high expression level Mus musculus
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eye high expression level Mus musculus
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femur high expression level Mus musculus
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fibroblast high expression level Mus musculus
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kidney high expression level Mus musculus
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vertebra high expression level Mus musculus
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Synonyms

Synonyms Comment Organism
GNPTG
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 Mus musculus

General Information

General Information Comment Organism
physiological function in fibroblasts Gnpt knockout mice mimicking the lysosomal storage disorder mucolipidosis III, the cleavage of the alphabeta-precursor is not affected by Gnptg deficiency, while the GlcNAc-1-phosphotransferase activity is significantly reduced. 29 soluble lysosomal proteins exhibit differential abundance in Gnptg knockout fibroblasts. A subset of these lysosomal enzymes show also reduced mannose 6-phosphate modifications, fail to reach lysosomes and are secreted. Low levels of these enzymes correlate with the accumulation of non-degraded fucose-containing glycostructures and sulfated glycosaminoglycans in Gnptg knockout lysosomes Mus musculus