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GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_032520 Homo sapiens N-acetylglucosamine-1-phosphate transferase, gamma subunit (GNPTG), mRNA. GenEZ ORF Cloning On-demand TBD TBD

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Related Services

Gene Symbol GNPTG
Entrez Gene ID 84572
Full Name N-acetylglucosamine-1-phosphate transferase, gamma subunit
Synonyms C16orf27, GNPTAG, LP2537, RJD9
General protein information
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

16

16p13.3

Summary This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III gamma.[provided by RefSeq, Feb 2010].
Disorder

MIM: 607838

Mucolipidosis III gamma, 252605 (3)

mRNA Protein Product Sequence Price Select
NM_032520, 288806583 NP_115909, 14249738 N-acetylglucosamine-1-phosphotransferase subunit gamma precursor ORF Sequence $300.00
KEGG
hsa04142Lysosome
Homo sapiens (human)GNPTGNP_115909.1
Pan troglodytes (chimpanzee)GNPTGXP_001159025.1
Canis lupus familiaris (dog)GNPTGXP_003639173.2
Bos taurus (cattle)GNPTGNP_001017428.1
Mus musculus (house mouse)GnptgNP_766117.2
Rattus norvegicus (Norway rat)GnptgNP_001093963.1
Gallus gallus (chicken)GNPTGNP_001264495.1
Danio rerio (zebrafish)gnptgNP_001002057.2
Xenopus (Silurana) tropicalis (western clawed frog)gnptgNP_001011369.1
Process
IDNameEvidence
GO:0016256N-glycan processing to lysosomeIEA
GO:0046835carbohydrate phosphorylationIDA
Component
IDNameEvidence
GO:0000139Golgi membraneIEA
GO:0005794Golgi apparatusISS
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0042803protein homodimerization activityISS
GeneCards GNPTG
UniProt Q9UJJ9
Vega OTTHUMG00000047835
MIM 607838
Ensembl ENSG00000090581
HGNC 23026
HPRD 06384

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the GNPTG gene?

The GNPTG gene provides instructions for making one part, the gamma subunit, of an enzyme called GlcNAc-1-phosphotransferase. This enzyme is made up of two alpha (α), two beta (β), and two gamma (γ) subunits. The alpha and beta subunits are produced from a different gene, called GNPTAB. GlcNAc-1-phosphotransferase helps prepare certain newly made enzymes for transport to lysosomes. Lysosomes are compartments within the cell that use digestive enzymes called hydrolases to break down large molecules into smaller ones that can be reused by cells.

GlcNAc-1-phosphotransferase is involved in the first step of making a molecule called mannose-6-phosphate (M6P). M6P acts as a tag that indicates a hydrolase should be transported to the lysosome. Specifically, GlcNAc-1-phosphotransferase transfers a molecule called GlcNac-1-phosphate to a newly produced hydrolase. In the next step, a molecule is removed to reveal an M6P attached to the hydrolase. Once a hydrolase has an M6P tag, it can be transported to a lysosome.

Interactant

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