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Literature summary for 2.7.8.17 extracted from

  • van Meel, E.; Kornfeld, S.
    Mucolipidosis III GNPTG missense mutations cause misfolding of the gamma subunit of GlcNAc-1-phosphotransferase (2016), Hum. Mutat., 37, 623-626.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 2.7.8.17

Cloned(Commentary)

Cloned (Comment) Organism
gene GNPTG encoding the gamma-subunit of the enzyme, transient expression of wild-type and mutant gamma-subunits in HeLa cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
C142Y naturally occuring mutation of the gamma-subunit that causes misfolding of the gamma-subunit, the misfolded protein is retained in the endoplasmic reticulum, where it forms aggregates, and fails to rescue the lysososmal targeting of lysosomal acid glycosidases Homo sapiens
G106S naturally occuring mutation of the gamma-subunit that causes misfolding of the gamma-subunit, the misfolded protein is retained in the endoplasmic reticulum, where it forms aggregates, and fails to rescue the lysososmal targeting of lysosomal acid glycosidases Homo sapiens
G126S naturally occuring mutation of the gamma-subunit that causes misfolding of the gamma-subunit, the misfolded protein is retained in the endoplasmic reticulum, where it forms aggregates, and fails to rescue the lysososmal targeting of lysosomal acid glycosidases Homo sapiens
T286M naturally occuring mutation of the gamma-subunit that does not alter the gamma-subunit function, the mutant variant enters the Golgi like the wild-type enzyme Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
Golgi apparatus
-
 Homo sapiens 5794
-

Organism

Organism UniProt Comment Textmining
Homo sapiens Q9UJJ9 gamma subunit
-

Posttranslational Modification

Posttranslational Modification Comment Organism
glycoprotein the gamma subunit of GlcNAc-1-phosphotransferase is a soluble glycoprotein Homo sapiens

Synonyms

Synonyms Comment Organism
GlcNAc-1-phosphotransferase
-
 Homo sapiens
GNPTG
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction the lysosomal storage disorder ML III gamma is caused by defects in the gamma subunit of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase. In patients with this disorder, most of the newly synthesized lysosomal enzymes are secreted rather than being sorted to lysosomes, resulting in increased levels of these enzymes in the plasma. Several missense mutations in GNPTG, the gene encoding the gamma subunit, are reported in mucolipidosis III gamma patients. gamma-Subunit deficient HeLa cells have greatly reduced levels of many lysosomal acid hydrolases compared with the parental HeLa cells and display a lysosomal storage phenotype Homo sapiens
physiological function the enzyme tags lysosomal enzymes with the mannose 6-phosphate lysosomal targeting signal. The gamma-subunit is required for efficient phosphorylation of a subset of the lysosomal enzymes Homo sapiens