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N-acetylglucosamine-1-phosphate transferase subunit gamma
Summary
- Gene Symbol
-
- GNPTG
- Aliases
-
- CAB56184
- GlcNAc-phosphotransferase gamma-subunit
- c316G12.3
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Disease variant
- Disulfide bond
- Glycoprotein
- Golgi apparatus
- Mucolipidosis
- Reference proteome
- Secreted
- Signal
- Proteins
| UniProt | Protein Name |
|---|---|
| Q9UJJ9 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| N-glycan processing to lysosome | ||
| carbohydrate phosphorylation |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| glucosidase II complex |
|
|
| Golgi apparatus | ||
| extracellular exosome | ||
| Golgi membrane | ||
| UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase complex |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein homodimerization activity | ||
| UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity | ||
| protein binding |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:11105 | fundus albipunctatus | |
| DOID:11830 | myopia | |
| DOID:12798 | mucopolysaccharidosis | |
| DOID:12799 | mucopolysaccharidosis II | |
| DOID:12800 | mucopolysaccharidosis VI | |
| DOID:12801 | mucopolysaccharidosis III | |
| DOID:12802 | mucopolysaccharidosis I | |
| DOID:12804 | mucopolysaccharidosis IV | |
| DOID:13417 | alexia | |
| DOID:14499 | Fabry disease |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000280 | Coarse facial features |
| HP:0000470 | Short neck |
| HP:0000545 | Myopia |
| HP:0000768 | Pectus carinatum |
| HP:0000943 | Dysostosis multiplex |
| HP:0001249 | Intellectual disability |
| HP:0001256 | Intellectual disability, mild |
| HP:0001387 | Joint stiffness |
| HP:0001650 | Aortic valve stenosis |
| Disease ID | Disease Name |
|---|---|
| OMIM:252605 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 102190923 | CAPHI16490 | ||
| 105981918 | DIPOR08253 | ||
| 100772246 | CRIGR08854 | ||
| 214505 | MGI:2147006 | MOUSE20877 | |
| 287134 | RGD:1311614 | RATNO01642 | |
| 100723134 | CAVPO03119 | ||
| 101576713 | OCTDE05605 | ||
| 101715733 | HETGA14470 | ||
| 100010431 | MONDO30217 | ||
| 105859600 | MICMU02770 |
