GNPTG

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.

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 1,364,113 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

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

1. GRCh38: Ensembl release 89: ENSG00000090581 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000035521 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.