N-acetylglucosamine-1-phosphate transferase (GlcNAc-1-phosphotrasferase) is a transferase enzyme.
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits | |||||||
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Identifiers | |||||||
Symbol | GNPTAB | ||||||
Alt. symbols | GNPTA | ||||||
NCBI gene | 79158 | ||||||
HGNC | 29670 | ||||||
OMIM | 607840 | ||||||
RefSeq | NM_024312 | ||||||
UniProt | Q3T906 | ||||||
Other data | |||||||
Locus | Chr. 12 q23.3 | ||||||
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N-acetylglucosamine-1-phosphate transferase, gamma subunit | |||||||
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Identifiers | |||||||
Symbol | GNPTG | ||||||
Alt. symbols | GNPTAG | ||||||
NCBI gene | 84572 | ||||||
HGNC | 23026 | ||||||
OMIM | 607838 | ||||||
RefSeq | NM_032520 | ||||||
UniProt | Q9UJJ9 | ||||||
Other data | |||||||
Locus | Chr. 16 p13.3 | ||||||
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It is made up of two alpha (α), two betas (β), and two gammas (γ) subunits. GNPTAB produces the alpha and beta subunits, GNPTG produces the gamma subunit. GlcNAc-1-phosphotransferase functions to prepare newly made enzymes for lysosome transportation (lysosomal hydrolases to the lysosome). Lysosomes, a part of an animal cell, helps break down large molecules into smaller ones that can be reused. GlcNAc-1-phosphotransferase phosphorylates carbon 6 of one or more mannosyl residues of N linked glycoproteins being processed in Golgi Apparatus . UDP-GLcNAc provides the phosphate in a reaction catalysed by this enzyme. M6P acts as an indicator of whether a hydrolase should be transported to the lysosome or not. Once a hydrolase indicates an M6P, it can be transported to a lysosome. Surprisingly some lysosomal enzymes are only tagged at a rate of 5% or lower.
It is associated with the following conditions:[1][2]
In melanocytic cells, GNPTG gene expression may be regulated by MITF.[3]
Kang, C., Riazuddin, S., Mundorff, J., Krasnewich, D., Friedman, P., Mullikin, J.C., and Drayna, D. (2010). Mutations in the Lysosomal Enzyme–Targeting Pathway and Persistent Stuttering. New England Journal of Medicine 362, 677–685.
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