InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GNPTG

Summary

InnateDB Protein

IDBP-8862.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GNPTG

Protein Name

N-acetylglucosamine-1-phosphate transferase, gamma subunit

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000204679

InnateDB Gene

IDBG-8860 (GNPTG)

Protein Structure

UniProt Annotation

Function

Non-catalytic subunit of the N-acetylglucosamine-1- phosphotransferase complex, an enzyme that catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. Binds and presents the high mannose glycans of the acceptor to the catalytic alpha and beta subunits (GNPTAB). Enhances the rate of N-acetylglucosamine- 1-phosphate transfer to the oligosaccharides of acid hydrolase acceptors. {ECO:0000269PubMed:10712439, ECO:0000269PubMed:19955174}.

Subcellular Localization

Secreted {ECO:0000269PubMed:15532026}. Golgi apparatus {ECO:0000269PubMed:15532026}.

Disease Associations

Mucolipidosis type III complementation group C (MLIIIC) [MIM:252605]: Autosomal recessive disease of lysosomal hydrolase trafficking. Unlike the related diseases, mucolipidosis II and IIIA, the enzyme affected in mucolipidosis IIIC (GlcNAc- phosphotransferase) retains full transferase activity on synthetic substrates but lacks activity on lysosomal hydrolases. Typical clinical findings include stiffness of the hands and shoulders, claw-hand deformity, scoliosis, short stature, coarse facies, and mild mental retardation. Radiographically, severe dysostosis multiplex of the hip is characteristic and frequently disabling. The clinical diagnosis can be confirmed by finding elevated serum lysosomal enzyme levels and/or decreased lysosomal enzyme levels in cultured fibroblasts. {ECO:0000269PubMed:10712439, ECO:0000269PubMed:15532026, ECO:0000269PubMed:24316125}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed. {ECO:0000269PubMed:10712439}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.

Experimentally validated
Total	4 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003976	UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity
GO:0042803	protein homodimerization activity

Biological Process

GO:0016256	N-glycan processing to lysosome
GO:0046835	carbohydrate phosphorylation

Cellular Component

GO:0000139	Golgi membrane
GO:0005794	Golgi apparatus
GO:0016020	membrane
GO:0043231	intracellular membrane-bounded organelle
GO:0070062	extracellular vesicular exosome