GNPTG
entrez
84572
canonical
uniprot
Q9UJJ9
canonical
ensembl
ENSG00000090581
resolver
ensp
ENSP00000204679
resolver
enst
ENST00000204679
resolver
genesymbol
GNPTG
resolver
genesymbol_syn
C16orf27
resolver
genesymbol_syn
GNPTAG
resolver
hgnc
HGNC:23026
resolver
uniprot
B2R556
resolver
uniprot
Q6XYD7
resolver
uniprot
Q96L13
resolver
uniprot_entry
GNPTG_HUMAN
resolver
uniprot_sec
B2R556
resolver
uniprot_sec
Q6XYD7
resolver
uniprot_sec
Q96L13
resolver
amino_acid_sequence
MAAGLARLLLLLGLSAGGPAPAGAAKMKVVEEPNAFGVNNPFLPQASRLQAKRDPSPVSGPVHLFRLSGKCFSLVESTYKYEFCPFHNVTQHEQTFRWNAYSGILGIWHEWEIANNTFTGMWMRDGDACRSRSRQSKVELACGKSNRLAHVSEPSTCVYALTFETPLVCHPHALLVYPTLPEALQRQWDQVEQDLADELITPQGHEKLLRTLFEDAGYLKTPEENEPTQLEGGPDSLGFETLENCRKAHKELSKEIKRLKGLLTQHGIPYTRPTETSNLEHLGHETPRAKSPEQLRGDPGLRGSL
uniprot
proteins
disease_involvement
DISEASE: 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 intellectual disability. 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:0000269|PubMed:10712439, ECO:0000269|PubMed:15060128, ECO:0000269|PubMed:15532026, ECO:0000269|PubMed:19370764, ECO:0000269|PubMed:24316125, ECO:0000269|PubMed:26108976, ECO:0000269|PubMed:27038293}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Defects in GNPTG have been suggested to play a role in susceptibility to persistent stuttering. Stuttering is a common speech disorder characterized by repetitions, prolongations, and interruptions in the flow of speech. {ECO:0000269|PubMed:20147709}.
uniprot
proteins
function
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:0000269|PubMed:10712439, ECO:0000269|PubMed:19955174}.
uniprot
proteins
mass_dalton
33974
uniprot
proteins
post_translational_modification
PTM: Cys-245 mediates the formation of the interchain disulfide bond for formation of the homodimer. Cys-142, Cys-157 and Cys-169 are involved in intramolecular disulfide bonds formation (By similarity). {ECO:0000250}.
uniprot
proteins
pubmed
10712439
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15060128
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15498874
uniprot
proteins
pubmed
15532026
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
19370764
uniprot
proteins
pubmed
19955174
uniprot
proteins
pubmed
20147709
uniprot
proteins
pubmed
21173149
uniprot
proteins
pubmed
24316125
uniprot
proteins
pubmed
26108976
uniprot
proteins
pubmed
27038293
uniprot
proteins
sequence_length
305
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:15532026}. Golgi apparatus {ECO:0000269|PubMed:15532026, ECO:0000269|PubMed:26108976, ECO:0000269|PubMed:27038293}.
uniprot
proteins