GNPTG

GNPTG
Identifiers
Aliases	GNPTG, C16orf27, GNPTAG, LP2537, RJD9, N-acetylglucosamine-1-phosphate transferase gamma subunit, N-acetylglucosamine-1-phosphate transferase subunit gamma
External IDs	MGI: 2147006 HomoloGene: 13047 GeneCards: GNPTG
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16p13.3 Start 1,351,923 bp[1] End 1,364,113 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17|17 A3.3 Start 25,233,331 bp[2] End 25,240,124 bp[2]
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 – 1.36 Mb	Chr 17: 25.23 – 25.24 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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