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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:1712 | aortic valve stenosis | |
| DOID:2256 | osteochondrodysplasia | |
| DOID:3211 | lysosomal storage disease | |
| DOID:3343 | glycoproteinosis | |
| DOID:4428 | dyslexia | |
| DOID:4480 | achondroplasia | |
| DOID:57 | aortic valve insufficiency | |
| DOID:9455 | lipid storage disease | |
| DOID:9521 | Laron syndrome |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001659 | Aortic regurgitation |
| HP:0001763 | Pes planus |
| HP:0002650 | Scoliosis |
| HP:0002808 | Kyphosis |
| HP:0002829 | Arthralgia |
| HP:0002857 | Genu valgum |
| HP:0002869 | Flared iliac wing |
| HP:0003307 | Hyperlordosis |
| HP:0003333 | Increased serum beta-hexosaminidase |
| HP:0003370 | Flat capital femoral epiphysis |
| 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 |
|---|---|---|---|
| 101144934 | GORGO11659 | ||
| 100990546 | PANPA14382 | ||
| 746034 | PANTR11405 | ||
| 100455711 | PONAB10161 | ||
| 112909048 | VULVU35014 | ||
| 123783770 | URSAM00381 | ||
| 101672108 | MUSPF14399 | ||
| 101088293 | FELCA36010 | ||
| 122210316 | PANLE28549 | ||
| 118880691 | BALMU20929 |
