Sequence in raw or FASTA format:
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit [Homo sapiens (human)]
|Entrez Gene ID||84572|
|Full Name||N-acetylglucosamine-1-phosphate transferase, gamma subunit|
|Synonyms||C16orf27, GNPTAG, LP2537, RJD9|
|General protein information|
|Organism||Homo sapiens (human)|
|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].|
Mucolipidosis III gamma, 252605 (3)
|Homo sapiens (human)||GNPTG||NP_115909.1|
|Pan troglodytes (chimpanzee)||GNPTG||XP_001159025.1|
|Canis lupus familiaris (dog)||GNPTG||XP_003639173.2|
|Bos taurus (cattle)||GNPTG||NP_001017428.1|
|Mus musculus (house mouse)||Gnptg||NP_766117.2|
|Rattus norvegicus (Norway rat)||Gnptg||NP_001093963.1|
|Gallus gallus (chicken)||GNPTG||NP_001264495.1|
|Danio rerio (zebrafish)||gnptg||NP_001002057.2|
|Xenopus (Silurana) tropicalis (western clawed frog)||gnptg||NP_001011369.1|
|GO:0016256||N-glycan processing to lysosome||IEA|
|GO:0070062||extracellular vesicular exosome||IDA|
|GO:0042803||protein homodimerization activity||ISS|
What is the normal function of the GNPTG gene?
The GNPTG gene provides instructions for making one part, the gamma subunit, of an enzyme called GlcNAc-1-phosphotransferase. This enzyme is made up of two alpha (α), two beta (β), and two gamma (γ) subunits. The alpha and beta subunits are produced from a different gene, called GNPTAB. GlcNAc-1-phosphotransferase helps prepare certain newly made enzymes for transport to lysosomes. Lysosomes are compartments within the cell that use digestive enzymes called hydrolases to break down large molecules into smaller ones that can be reused by cells.
GlcNAc-1-phosphotransferase is involved in the first step of making a molecule called mannose-6-phosphate (M6P). M6P acts as a tag that indicates a hydrolase should be transported to the lysosome. Specifically, GlcNAc-1-phosphotransferase transfers a molecule called GlcNac-1-phosphate to a newly produced hydrolase. In the next step, a molecule is removed to reveal an M6P attached to the hydrolase. Once a hydrolase has an M6P tag, it can be transported to a lysosome.
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