GNPTG
Identifiers
Aliases	GNPTG, C16orf27, GNPTAG, LP2537, RJD9, N-acetylglucosamine-1-phosphate transferase gamma subunit, N-acetylglucosamine-1-phosphate transferase subunit gamma
External IDs	OMIM: 607838 MGI: 2147006 HomoloGene: 13047 GeneCards: GNPTG
Gene location ( Human) Chr. Chromosome 16 (human) [1] Band 16p13.3 Start 1,351,931 bp [1] End 1,365,737 bp [1]
Gene location ( Mouse) Chr. Chromosome 17 (mouse) [2] Band 17|17 A3.3 Start 25,452,305 bp [2] End 25,459,098 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left adrenal gland Brodmann area 9 cingulate gyrus prefrontal cortex amygdala hypothalamus putamen substantia nigra stromal cell of endometrium nucleus accumbens Top expressed in superior frontal gyrus parotid gland cerebellar cortex yolk sac neural tube proximal tubule supraoptic nucleus kidney ventromedial nucleus arcuate nucleus More reference expression data BioGPS n/a
Gene ontology Molecular function UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity protein homodimerization activity Cellular component extracellular region Golgi membrane Golgi apparatus extracellular exosome membrane intracellular membrane-bounded organelle Biological process N-glycan processing to lysosome carbohydrate phosphorylation Sources: Amigo / QuickGO
Orthologs Species Human Mouse Entrez 84572 214505 Ensembl ENSG00000090581 ENSMUSG00000035521 UniProt Q9UJJ9 Q6S5C2 RefSeq (mRNA) NM_032520 NM_172529 NM_001346737 RefSeq (protein) NP_115909 NP_001333666 NP_766117 Location (UCSC) Chr 16: 1.35 – 1.37 Mb Chr 17: 25.45 – 25.46 Mb PubMed search [3] [4]
Wikidata
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GNPTG (“N-acetylglucosamine-1-phosphate transferase, gamma subunit.”) is a gene in the human body. It is one of three genes that were found to correlate with stuttering.

Function

The GNPTG gene codes instructions for making the gamma subunit of an enzyme called GlcNAc-1-phosphotransferase (also called N-acetylglucosamine-1-phosphate transferase). This enzyme 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.

References