Property Summary

NCBI Gene PubMed Count 25
Grant Count 6
Funding $2,450,228.25
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 0.000
group 4 medulloblastoma -1.300 0.000
medulloblastoma, large-cell -1.200 0.000
ovarian cancer 2.000 0.000

Synonym

Accession Q9UJJ9 B2R556 Q6XYD7 Q96L13
Symbols RJD9
GNPTAG
LP2537
C16orf27

Gene

PANTHER Protein Class (1)

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.
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AA Sequence

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