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Literature summary for 2.7.8.17 extracted from

  • Qian, Y.; van Meel, E.; Flanagan-Steet, H.; Yox, A.; Steet, R.; Kornfeld, S.
    Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognition (2015), J. Biol. Chem., 290, 3045-3056.
    View publication on PubMedView publication on EuropePMC
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Cloned(Commentary)

Cloned (Comment) Organism
gene GNPTAB encodes the alpha- and beta-subunits of GlcNAc-1-phosphotransferase, low efficiency of GNPTAB mRNA expression due to its large size Danio rerio
gene GNPTAB encodes the alpha/beta-subunit of GlcNAc-1-phosphotransferase, recombinant expression of C-terminally V5/His-tagged wild-type and mutant enzymes in HEK293 cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
A592T site-directed mutagenesis, mutation involved in enzyme dysfunction, that has no effect on the mutant enzyme Homo sapiens
A955V site-directed mutagenesis, mutation involved in enzyme dysfunction Homo sapiens
A955V/K928R site-directed mutagenesis, mutation involved in enzyme dysfunction Homo sapiens
C442Y site-directed mutagenesis, mutation involved in enzyme dysfunction, the Notch 1 mutant is efficiently delivered to the Golgi complex and the alphabeta precursor undergoes proteolytic cleavage Homo sapiens
C447Y site-directed mutagenesis, the mutation does not affect the catalytic activity of the GlcNAc-1-phosphotransferase. Enzyme-deficient embryos rescued with C447Y mRNA only corrects 84% of mutational features, and embryos rescued with the mutant mRNA appear visually different, i.e. shorter, from embryos rescued with wild-type mRNA Danio rerio
C461G site-directed mutagenesis, mutation involved in enzyme dysfunction, the Notch 1 mutant is efficiently delivered to the Golgi complex and the alphabeta precursor undergoes proteolytic cleavage Homo sapiens
C468S site-directed mutagenesis, mutation involved in enzyme dysfunction, the Notch 1 mutant is efficiently delivered to the Golgi complex and the alphabeta precursor undergoes proteolytic cleavage Homo sapiens
C473S site-directed mutagenesis, the mutation does not affect the catalytic activity of the GlcNAc-1-phosphotransferase. Enzyme-deficient embryos rescued with C473S mRNA only corrects 80% of mutational features, and embryos rescued with the mutant mRNA appear visually different, i.e. shorter, from embryos rescued with wild-type mRNA Danio rerio
C505Y site-directed mutagenesis, mutation involved in enzyme dysfunction Homo sapiens
C523R site-directed mutagenesis, mutation involved in enzyme dysfunction Homo sapiens
D1018G site-directed mutagenesis, mutation involved in enzyme dysfunction Homo sapiens
D190V site-directed mutagenesis, mutation involved in enzyme dysfunction Homo sapiens
D407A site-directed mutagenesis, mutation involved in enzyme dysfunction, the mutant in the Stealth domain trafficks to the Golgi Homo sapiens
D407A/A663G site-directed mutagenesis, mutation involved in enzyme dysfunction Homo sapiens
F374L site-directed mutagenesis, mutation involved in enzyme dysfunction Homo sapiens
H956Y site-directed mutagenesis, mutation involved in enzyme dysfunction Homo sapiens
I348L site-directed mutagenesis, mutation involved in enzyme dysfunction, the mutant behaves similar to the wild-type enzyme Homo sapiens
I403T site-directed mutagenesis, mutation involved in enzyme dysfunction, the mutant partially exits from the endoplasmic reticulum and is almost inactive Homo sapiens
K1236M site-directed mutagenesis, mutation involved in enzyme dysfunction Homo sapiens
K732N site-directed mutagenesis, mutation involved in enzyme dysfunction, the DMAP interaction domain mutation has full activity toward alpha-MM but impaired ability to phosphorylate lysosomal acid hydrolases Homo sapiens
L1001P site-directed mutagenesis, mutation involved in enzyme dysfunction, the mutant partially exits from the endoplasmic reticulum and is almost inactive Homo sapiens
L1054V site-directed mutagenesis, mutation involved in enzyme dysfunction Homo sapiens
L785W site-directed mutagenesis, mutation involved in enzyme dysfunction, the DMAP interaction domain mutation has full activity toward alpha-MM but impaired ability to phosphorylate lysosomal acid hydrolases Homo sapiens
additional information generation of GNPTAB-deficient zebrafish, comprehensive analysis of the remaining missense mutations in GNPTAB reported in human mucolipidosis II and III alphabeta-patients using cell- and zebrafish-based approaches Danio rerio
additional information generation of GNPTAB-deficient zebrafish, comprehensive analysis of the remaining missense mutations in GNPTAB reported in human mucolipidosis II and III alphabeta-patients using cell- and zebrafish-based approaches Homo sapiens
additional information mutations in the GNPTAB gene give rise to the severe lysosomal storage disorder mucolipidosis II (I-cell disease) and the attenuated mucolipidosis III alphabeta (pseudo-Hurler polydystrophy). Subcellular localization ofalphabeta-phosphotransferase Stealth domain is altered compared to wild-type in HeLa cells Homo sapiens
N1153S site-directed mutagenesis, mutation involved in enzyme dysfunction Homo sapiens
Q926P site-directed mutagenesis, mutation involved in enzyme dysfunction Homo sapiens
R334L site-directed mutagenesis, mutation involved in enzyme dysfunction, the mutant fails to exit from the endoplasmic reticulum and is inactive Homo sapiens
R334Q site-directed mutagenesis, mutation involved in enzyme dysfunction, the mutant fails to exit from the endoplasmic reticulum and is inactive Homo sapiens
R587P site-directed mutagenesis, mutation involved in enzyme dysfunction, the R587P mutant shifts from a predominant endoplasmic reticulum localization to a predominant Golgi localization Homo sapiens
R986C site-directed mutagenesis, mutation involved in enzyme dysfunction, the mutant in the Stealth domain trafficks to the Golgi Homo sapiens
S399F site-directed mutagenesis, mutation involved in enzyme dysfunction, the mutant partially exits from the endoplasmic reticulum and is almost inactive Homo sapiens
V182D site-directed mutagenesis, mutation involved in enzyme dysfunction Homo sapiens
V182D/Q205P site-directed mutagenesis, mutation involved in enzyme dysfunction Homo sapiens
W81L site-directed mutagenesis, mutation involved in enzyme dysfunction, that has no effect on the mutant enzyme Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
lysosome
-
 Danio rerio 5764
-
lysosome
-
 Homo sapiens 5764
-

Metals/Ions

Metals/Ions Comment Organism Structure
Mn2+ required Danio rerio
Mn2+ required Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
UDP-N-acetyl-D-glucosamine + lysosomal-enzyme D-mannose Danio rerio
-
 UMP + lysosomal-enzyme N-acetyl-D-glucosaminyl-phospho-D-mannose
-
 ?
UDP-N-acetyl-D-glucosamine + lysosomal-enzyme D-mannose Homo sapiens
-
 UMP + lysosomal-enzyme N-acetyl-D-glucosaminyl-phospho-D-mannose
-
 ?

Organism

Organism UniProt Comment Textmining
Danio rerio
-
-
-
Homo sapiens Q3T906
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
UDP-N-acetyl-D-glucosamine + lysosomal-enzyme D-mannose
-
 Danio rerio UMP + lysosomal-enzyme N-acetyl-D-glucosaminyl-phospho-D-mannose
-
 ?
UDP-N-acetyl-D-glucosamine + lysosomal-enzyme D-mannose
-
 Homo sapiens UMP + lysosomal-enzyme N-acetyl-D-glucosaminyl-phospho-D-mannose
-
 ?

Subunits

Subunits Comment Organism
heterodimer alphabeta Danio rerio
heterodimer alphabeta Homo sapiens

Synonyms

Synonyms Comment Organism
GlcNAc-1-phosphotransferase
-
 Danio rerio
GlcNAc-1-phosphotransferase
-
 Homo sapiens
UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase
-
 Danio rerio
UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase
-
 Homo sapiens

Temperature Optimum [°C]

Temperature Optimum [°C] Temperature Optimum Maximum [°C] Comment Organism
37
-
 assay at Danio rerio
37
-
 assay at Homo sapiens

pH Optimum

pH Optimum Minimum pH Optimum Maximum Comment Organism
7.4
-
 assay at Danio rerio
7.4
-
 assay at Homo sapiens

General Information

General Information Comment Organism
malfunction some mutations in the Stealth domain harboring the catalytic site greatly impaires the activity of the enzyme without affecting its Golgi localization and proteolytic processing. Missense mutations in conserved cysteine residues in the Notch repeat 1 domain do not affect the catalytic activity but impair mannose phosphorylation of certain lysosomal hydrolases Danio rerio
malfunction some mutations in the Stealth domain harboring the catalytic site greatly impaires the activity of the enzyme without affecting its Golgi localization and proteolytic processing. Missense mutations in conserved cysteine residues in the Notch repeat 1 domain do not affect the catalytic activity but impair mannose phosphorylation of certain lysosomal hydrolases Homo sapiens
additional information identification of domains of the enzyme involved in catalytic function, overview Danio rerio
additional information identification of domains of the enzyme involved in catalytic function, overview Homo sapiens
physiological function the enzyme UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase is involved in lysosomal enzyme recognition. UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase tags newly synthesized lysosomal enzymes with mannose 6-phosphate recognition markers, which are required for their targeting to the endolysosomal system Danio rerio
physiological function the enzyme UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase is involved in lysosomal enzyme recognition. UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase tags newly synthesized lysosomal enzymes with mannose 6-phosphate recognition markers, which are required for their targeting to the endolysosomal system Homo sapiens