Gnptab - N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits Gene
Also Known as EG432486
Species: Mus musculus
Summary
Predicted to enable UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. Acts upstream of or within carbohydrate phosphorylation and secretion of lysosomal Enzymes. Predicted to be located in Golgi membrane. Predicted to be active in Golgi apparatus. Used to study mucolipidosis II alpha/beta. Human ortholog(s) of this gene implicated in mucolipidosis II alpha/beta and mucolipidosis III alpha/beta. Orthologous to human GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta). [provided by Alliance of Genome Resources, Apr 2022]
Gnptab Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001004164.3 | NP_001004164.2 | N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform 1 |
| NM_001364707.1 | NP_001351636.1 | N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform 2 |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within carbohydrate phosphorylation |
IMP
IMP: Inferred from mutant phenotype
|
17652091 | MGI |
| acts upstream of or within establishment of localization in cell |
IMP
IMP: Inferred from mutant phenotype
|
17652091 | MGI |
| acts upstream of or within protein secretion |
IMP
IMP: Inferred from mutant phenotype
|
17652091 | MGI |
| acts upstream of or within secretion of lysosomal enzymes |
IMP
IMP: Inferred from mutant phenotype
|
19710420 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
N-acetylglucosamine-1-phosphotransferase subunits alpha/beta |
|
|