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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
N-acetylglucosamine-1-phosphotransferase subunit gamma
Summary
- UniProt ID
- Q9UJJ9
- Gene Symbol
-
- GNPTG
- C16orf27
- GNPTAG
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Disease variant
- Disulfide bond
- Glycoprotein
- Golgi apparatus
- Mucolipidosis
- Reference proteome
- Secreted
- Signal
- Gene Ontology (GO)
| GO Term |
|---|
| N-glycan processing to lysosome |
| carbohydrate phosphorylation |
| GO Term |
|---|
| protein homodimerization activity |
| UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity |
Sequence
MAAGLARLLLLLGLSAGGPAPAGAAKMKVVEEPNAFGVNNPFLPQASRLQAKRDPSPVSGPVHLFRLSGKCFSLVESTYKYEFCPFHNVTQHEQTFRWNAYSGILGIWHEWEIANNTFTGMWMRDGDACRSRSRQSKVELACGKSNRLAHVSEPSTCVYALTFETPLVCHPHALLVYPTLPEALQRQWDQVEQDLADELITPQGHEKLLRTLFEDAGYLKTPEENEPTQLEGGPDSLGFETLENCRKAHKELSKEIKRLKGLLTQHGIPYTRPTETSNLEHLGHETPRAKSPEQLRGDPGLRGSL
Glycosylation Sites
G57321FI
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:1712 | aortic valve stenosis | |
| DOID:2256 | osteochondrodysplasia | |
| DOID:3211 | lysosomal storage disease | |
| DOID:3343 | glycoproteinosis | |
| DOID:4480 | achondroplasia | |
| DOID:57 | aortic valve insufficiency | |
| DOID:9455 | lipid storage disease | |
| DOID:9521 | Laron syndrome |
