N-Acetylglucosamine-1-Phosphotransferase Subunits Alpha/Beta

Preferred Label : N-Acetylglucosamine-1-Phosphotransferase Subunits Alpha/Beta;

NCIt synonyms : GNPTAB; EC 2.7.8.17; UDP-N-Acetylglucosamine-Lysosomal-Enzyme N-Acetylglucosamine; GlcNAc-1-Phosphotransferase Subunits Alpha/Beta; UDP-N-Acetylglucosamine-1-Phosphotransferase Subunits Alpha/Beta; GlcNAc Phosphotransferase; Stealth Protein GNPTAB;

NCIt definition : N-acetylglucosamine-1-phosphotransferase subunits alpha/beta (1256 aa, 144 kDa) is encoded by the human GNPTAB gene. This protein is involved in catalyzing the formation of mannose 6-phosphate oligosaccharides.;

NCIt note : N-acetylglucosamine-1-phosphotransferase is a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. N-acetylglucosamine-1-phosphotransferase subunits alpha/beta is proteolytically cleaved between Lys928 and Asp929 to yield the mature alpha and beta polypeptides. The gamma subunits are the product of the GNPTG gene. (from EntrezGene and UniProt);

Détails

Origin ID

C202961;

UMLS CUI

C1722538;

OMIM relation
- N-acetylglucosamine-1-phosphotransferase, alpha/beta subunits [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]
UMLS correspondences (same concept)
- GNPTAB protein, human [MeSH Supplementary Concept]
- GNPTAB protein, human [MeSH concept]
gene_encodes_gene_product
- Enzyme Gene [NCIt concept]
- GNPTAB Gene [NCIt concept]
- Glycosyltransferase Gene [NCIt concept]
- Transferase Gene [NCIt concept]
gene_product_has_associated_anatomy
- Membrane of the Golgi Apparatus [NCIt concept]
gene_product_has_chemical_classification
- Transmembrane Protein [NCIt concept]
gene_product_has_structural_domain_or_motif
- EF-Hand Domain [NCIt concept]
- Substrate Interaction Domain [NCIt concept]
- Transmembrane Domain [NCIt concept]
gene_product_is_element_in_pathway
- Lysosome Assembly Pathway [NCIt concept]
- Nerve Growth Factor Receptor Signaling Pathway [NCIt concept]
gene_product_plays_role_in_biological_process
- Calcium Binding [NCIt concept]
- Carbohydrate Metabolic Process [NCIt concept]
- Glycosylation [NCIt concept]
- Ligand Binding [NCIt concept]
- Phosphorylation Process [NCIt concept]

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