GNPTG
Summary: This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III gamma.[provided by RefSeq, Feb 2010].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:607838 Ensembl IDEnsembl:ENSG00000090581 HGNC IDHGNC:HGNC:23026 PHARMGKB IDPA134990433 Map Location16p13.3 | |||||
Gene Categories:
DRUGGABLE GENOMEGO terms in GNPTG
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0003976 | UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity |
| MF | ISS | GO:0042803 | protein homodimerization activity |
| CC | IEA | GO:0000139 | Golgi membrane |
| CC | ISS | GO:0005794 | Golgi apparatus |
| CC | HDA | GO:0070062 | extracellular exosome |
| BP | IEA | GO:0016256 | N-glycan processing to lysosome |
Gene expression in normal tissue: GNPTG
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in GNPTG
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa04142 | Lysosome - Homo sapiens (human) |
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Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in GNPTG
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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