N-acetylglucosamine-1-phosphate transferase

N-acetylglucosamine-1-phosphate transferase is a transferase enzyme.

N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
Identifiers
SymbolGNPTAB
Alt. symbolsGNPTA
NCBI gene79158
HGNC29670
OMIM607840
RefSeqNM_024312
UniProtQ3T906
Other data
LocusChr. 12 q23.3
N-acetylglucosamine-1-phosphate transferase, gamma subunit
Identifiers
SymbolGNPTG
Alt. symbolsGNPTAG
NCBI gene84572
HGNC23026
OMIM607838
RefSeqNM_032520
UniProtQ9UJJ9
Other data
LocusChr. 16 p13.3

Function

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 catalyzes the N-linked glycosylation of asparagine residues with a molecule called mannose-6-phosphate (M6P). 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.

Clinical significance

It is associated with the following conditions:[1][2]

In melanocytic cells, GNPTG gene expression may be regulated by MITF.[3]

gollark: Oh, plausibly.
gollark: My reactors are mostly just automatically designed as needed, though.
gollark: It's been a while since I did NC reactor design, but that seems plausible depending on your goals.
gollark: (this information was obtained via htop)
gollark: Did you know? The osmarks.net HDD™ is currently doing 5MB/s of reads.

References
  1. Online Mendelian Inheritance in Man (OMIM): MUCOLIPIDOSIS II ALPHA/BETA - 252500
  2. Online Mendelian Inheritance in Man (OMIM): MUCOLIPIDOSIS III GAMMA - 252605
  3. Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.

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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