Property Summary

NCBI Gene PubMed Count 25
PubMed Score 15.67
PubTator Score 21.23

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
osteosarcoma -1.319 4.9e-04
group 4 medulloblastoma -1.300 3.2e-05
medulloblastoma, large-cell -1.200 6.6e-05
ovarian cancer 2.000 1.8e-07

Synonym

Accession Q9UJJ9 B2R556 Q6XYD7 Q96L13
Symbols RJD9
GNPTAG
LP2537
C16orf27

Gene

PANTHER Protein Class (1)

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

Gene RIF (11)

PMID Text
26385638 GlcNAc-1-phosphotransferase gamma-subunits bind to glycosylated region in the no-similarity domain 2 of alpha-subunit, which is independent on cysteine 70 identified to be responsible for alpha-subunit homodimerization.
25643770 SNPs covering GNPTAB, GNPTG and NAGPA were subjected to genotyping, association analysis was performed on all SNPs. Significant association of rs17031962 in GNPTAB and rs882294 in NAGPA with developmental dyslexia in a Chinese population was identified after false discovery rate correction for multiple comparisons.
24316125 findings expand the mutation spectrum of the GNPTG gene in Mucolipidosis type III gamma (three novel mutations were identified)
22884963 To date mutations in GNPTAB, GNPTG, and NAGPA have been associated with stuttering. These genes encode the lysosomal enzyme targeting pathway, defective in mucolipidosis. (Review)
20951619 two novel heterozygous mutations in GNPTG, including a splice site mutation and a 1-bp deletion in a Chinese family with mucolipidosis type III gamma.
20147709 identified mutations in GNPTG gene in subjects with stuttering
20034096 results suggest that PRL-3's roles in motility, invasion, and metastasis in colon cancer are critically controlled by the integrin beta1-ERK1/2-MMP2 signaling
19955174 analysis of functional differences in alpha, beta, and gamma subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase
19708128 novel mutation identified in GNPTG in mucolipidosis type III gamma resulting in truncated but stable gamma-subunit;gamma subunit appears to be involved in regulation of GlcNAc-1-phosphotransferase activity rather than general binding of lysosomal enzymes
19659762 The study led to the identification of 11 different mutations in GNPTAB and GNPTG genes in 13 mucolipidosis II and III patients.
19370764 The mutational spectrum of the GNPTG gene is strongly influenced by the properties of the local DNA sequence environment.

AA Sequence

MAAGLARLLLLLGLSAGGPAPAGAAKMKVVEEPNAFGVNNPFLPQASRLQAKRDPSPVSGPVHLFRLSGK      1 - 70
CFSLVESTYKYEFCPFHNVTQHEQTFRWNAYSGILGIWHEWEIANNTFTGMWMRDGDACRSRSRQSKVEL     71 - 140
ACGKSNRLAHVSEPSTCVYALTFETPLVCHPHALLVYPTLPEALQRQWDQVEQDLADELITPQGHEKLLR    141 - 210
TLFEDAGYLKTPEENEPTQLEGGPDSLGFETLENCRKAHKELSKEIKRLKGLLTQHGIPYTRPTETSNLE    211 - 280
HLGHETPRAKSPEQLRGDPGLRGSL                                                 281 - 305
//

Text Mined References (27)

PMID Year Title
26385638 2015 Subunit interactions of the disease-related hexameric GlcNAc-1-phosphotransferase complex.
25643770 2015 Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese population.
24316125 2014 Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22884963 2012 A role for inherited metabolic deficits in persistent developmental stuttering.
21173149 2011 Post-translational modifications of the gamma-subunit affect intracellular trafficking and complex assembly of GlcNAc-1-phosphotransferase.
20951619 2011 Identification of compound heterozygous mutations in GNPTG in three siblings of a Chinese family with mucolipidosis type III gamma.
20147709 2010 Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering.
20034096 2010 Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics.
19955174 2010 Functions of the alpha, beta, and gamma subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase.
19708128 2009 Compensatory expression of human N-acetylglucosaminyl-1-phosphotransferase subunits in mucolipidosis type III gamma.
19659762 2009 Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations.
19370764 2009 Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma.
19199708 2009 Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT).
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17213182 2006 Identification of genes related to Parkinson's disease using expressed sequence tags.
15616553 2004 The sequence and analysis of duplication-rich human chromosome 16.
15532026 2004 A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site.
15498874 2004 Large-scale cDNA transfection screening for genes related to cancer development and progression.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15231747 2004 A protein interaction framework for human mRNA degradation.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12107412 2002 Expressed sequence tag analysis of adult human iris for the NEIBank Project: steroid-response factors and similarities with retinal pigment epithelium.
11157797 2001 Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16.
10712439 2000 Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC)
3019310 1986 Molecular size of N-acetylglucosaminylphosphotransferase and alpha-N-acetylglucosaminyl phosphodiesterase as determined in situ in Golgi membranes by radiation inactivation.