N-acetylglucosamine-1-phosphate transferase
| 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 is a transferase enzyme.
Function
It is made up of two alpha (α), two beta (β), and two gamma (γ) subunits. GNPTAB produces the alpha and beta subunits. GlcNAc-1-phosphotransferase functions to prepare newly made enzymes for lysosome transportation (lysosomal hydrolases to the lysosome). Lysosomes, a part of an animal cells, 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 indicator whether a hydrolase should be transported to the lysosome or not. Once a hydrolase has the indication from an M6P, it can be transported to a lysosome.
Clinical significance
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
In melanocytic cells GNPTG gene expression may be regulated by MITF.[3]
References
- ^ 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.
External links
- 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
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