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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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:0050572 | cone-rod dystrophy | |
| DOID:0060243 | stuttering | |
| DOID:0060249 | scoliosis | |
| DOID:0060357 | chylomicron retention disease | |
| DOID:0080070 | mucolipidosis II alpha/beta | |
| DOID:0080071 | mucolipidosis III alpha/beta | |
| DOID:0080334 | aortic valve disease 2 | |
| DOID:0080678 | mucolipidosis III gamma | |
| DOID:0111390 | mucopolysaccharidosis Ih | |
| DOID:10584 | retinitis pigmentosa |
- 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 |
|---|---|---|---|
| 102361468 | LATCH05010 | ||
| 415147 | ZFIN:ZDB-GENE-040625-18 | DANRE25708 | |
| 103034496 | ASTMX15982 | ||
| 108264457 | ICTPU13346 | ||
| 105021295 | ESOLU12451 | ||
| 100196570 | SALSA93173 | ||
| 115159578 | SALTR01366 | ||
| 115571258 | SPAAU30836 | ||
| 446283 | Xenbase:XB-GENE-6251697 | ||
| 496836 | Xenbase:XB-GENE-945801 |
