Tbio GNPTAB N-acetylglucosamine-1-phosphotransferase subunits alpha/beta

Protein Summary

Description

Catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. M6P residues are required to bind to the M6P receptors (MPR), which mediate the vesicular transport of lysosomal enzymes to the endosomal/prelysosomal compartment. This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010]

Uniprot Accession IDs

• Q3T906
• A2RRQ9
• Q3ZQK2
• Q6IPW5
• Q86TQ2
• Q96N13
• Q9ULL2

Gene Name

• GNPTAB

Ensembl ID

• ENST00000299314
• ENSP00000299314
• ENSG00000111670
• ENST00000549940
• ENSP00000449150

Symbol

• GNPTA
• KIAA1208
• ICD
• GNPTA

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
virus perturbation	0.88
transcription factor perturbation	0.84
disease perturbation	0.74
phenotype	0.73
protein domain	0.73

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 496.27   (req: < 5)

Gene RIFs: 45   (req: <= 3)

Antibodies: 71   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 496.27   (req: >= 5)

Gene RIFs: 45   (req: > 3)

Antibodies: 71   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 6

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0