InnateDB Protein
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IDBP-8862.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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GNPTG
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Protein Name
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N-acetylglucosamine-1-phosphate transferase, gamma subunit
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000204679
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InnateDB Gene
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IDBG-8860 (GNPTG)
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Protein Structure
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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}.
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Subcellular Localization |
Secreted {ECO:0000269PubMed:15532026}. Golgi apparatus {ECO:0000269PubMed:15532026}.
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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.
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Tissue Specificity |
Widely expressed. {ECO:0000269PubMed:10712439}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
4
[view]
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Protein-Protein |
4
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0003976
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UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity
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GO:0042803
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protein homodimerization activity
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR009011
Mannose-6-phosphate receptor binding domain
IPR012913
Glucosidase II beta subunit-like
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PFAM |
PF07915
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9UJJ9
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PhosphoSite |
PhosphoSite-Q9UJJ9
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TrEMBL |
Q96RZ2
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UniProt Splice Variant |
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Entrez Gene |
84572
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UniGene |
Hs.241575
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RefSeq |
NP_115909
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HUGO |
HGNC:23026
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OMIM |
607838
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CCDS |
CCDS10436
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HPRD |
06384
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IMGT |
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EMBL |
AE006467
AF302786
AK312067
AL031709
AY203933
BC014592
CH471112
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GenPept |
AAG27706
AAH14592
AAK61277
AAP34456
BAG35003
CAB56184
EAW85667
EAW85668
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