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 | 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 | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
lysosome | - |
Danio rerio | 5764 | - |
lysosome | - |
Homo sapiens | 5764 | - |
Metals/Ions | Comment | Organism | Structure |
---|---|---|---|
Mn2+ | required | Danio rerio | |
Mn2+ | required | Homo sapiens |
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 | UniProt | Comment | Textmining |
---|---|---|---|
Danio rerio | - |
- |
- |
Homo sapiens | Q3T906 | - |
- |
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 | Comment | Organism |
---|---|---|
heterodimer | alphabeta | Danio rerio |
heterodimer | alphabeta | Homo sapiens |
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 Maximum [°C] | Comment | Organism |
---|---|---|---|
37 | - |
assay at | Danio rerio |
37 | - |
assay at | Homo sapiens |
pH Optimum Minimum | pH Optimum Maximum | Comment | Organism |
---|---|---|---|
7.4 | - |
assay at | Danio rerio |
7.4 | - |
assay at | Homo sapiens |
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 |