| N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits | |||||||
|---|---|---|---|---|---|---|---|
| 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 | ||||||
| |||||||
| N-acetylglucosamine-1-phosphate transferase, gamma subunit | |||||||
|---|---|---|---|---|---|---|---|
| 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 | ||||||
| |||||||
N-acetylglucosamine-1-phosphate transferase (GlcNAc-1-phosphotrasferase) is a transferase enzyme.
Function[edit]
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.
Clinical significance[edit]
It is associated with the following conditions:[1][2]
- mucolipidosis II alpha/beta (I-cell disease) - GNPTAB
- mucolipidosis III alpha/beta (pseudo-Hurler polydystrophy) - GNPTAB
- mucolipidosis III gamma - GNPTG
- stuttering (Kang et al., 2010)
In melanocytic cells, GNPTG gene expression may be regulated by MITF.[3]
References[edit]
- ^ Online Mendelian Inheritance in Man (OMIM): MUCOLIPIDOSIS II ALPHA/BETA - 252500
- ^ Online Mendelian Inheritance in Man (OMIM): MUCOLIPIDOSIS III GAMMA - 252605
- ^ 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. S2CID 24698373.
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.
External links[edit]
- GeneReviews/NCBI/NIH/UW entry on Mucolipidosis III Alpha/Beta
- GeneReviews/NIH/NCBI/UW entry on Mucolipidosis II
- GeneReviews/NIH/NCBI/UW entry on Mucolipidosis III Gamma
- N-acetylglucosamine-1-phosphate+transferase at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- EC 2.7.8.15