Property Summary

NCBI Gene PubMed Count 20
PubMed Score 89.07
PubTator Score 29.95

Knowledge Summary


No data available


  Differential Expression (11)

Disease log2 FC p
astrocytic glioma -1.200 1.5e-03
posterior fossa group B ependymoma -1.600 2.5e-08
psoriasis 1.300 1.7e-04
medulloblastoma -1.800 3.4e-05
atypical teratoid / rhabdoid tumor -1.300 3.1e-05
glioblastoma -1.200 4.7e-03
medulloblastoma, large-cell -1.700 3.0e-03
primitive neuroectodermal tumor -1.600 1.4e-03
adult high grade glioma -1.100 1.7e-02
Pick disease -1.400 2.3e-04
ovarian cancer 1.100 8.9e-05

Gene RIF (7)

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.
23572527 Mutational analysis of several residues in a highly conserved surface cavity of hUCE revealed that they are essential for function.
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)
21956109 Analysis of mannose 6-phosphate uncovering enzyme mutations associated with persistent stuttering.
20147709 identified three mutations in the NAGPA gene associated with stuttering
15976452 The mannose 6-phosphate uncovering enzyme participates in the uncovering of the mannose 6-phosphate recognition tag on lysosomal enzymes, a process that facilitates recognition of those enzymes by mannose 6-phosphate receptors to delivery to lysosomes.
12058031 synthesis as a proenzyme that is activated by furin [mannose 6-phosphate-uncovering enzyme]

AA Sequence

LQEMNGEPLAAEKEQPGGAHNPFKD                                                 491 - 515

Text Mined References (22)

PMID Year Title
26544806 2015 Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.
26130485 2016 Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25643770 2015 Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese population.
23572527 2013 Structure and function of the DUF2233 domain in bacteria and in the human mannose 6-phosphate uncovering enzyme.
22884963 2012 A role for inherited metabolic deficits in persistent developmental stuttering.
21956109 2011 Analysis of mannose 6-phosphate uncovering enzyme mutations associated with persistent stuttering.
20147709 2010 Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15976452 2005 Characterization of the TGN exit signal of the human mannose 6-phosphate uncovering enzyme.
15616553 2004 The sequence and analysis of duplication-rich human chromosome 16.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
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.
12058031 2002 Human mannose 6-phosphate-uncovering enzyme is synthesized as a proenzyme that is activated by the endoprotease furin.
11723124 2002 Multiple signals regulate trafficking of the mannose 6-phosphate-uncovering enzyme.
11408573 2001 Lysosomal hydrolase mannose 6-phosphate uncovering enzyme resides in the trans-Golgi network.
10551838 1999 Molecular cloning and functional expression of two splice forms of human N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase.
9110174 1997 Large-scale concatenation cDNA sequencing.
8922957 1996 Purification and characterization of human lymphoblast N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase.
8619474 1996 A "double adaptor" method for improved shotgun library construction.
7786023 1995 Purification and characterization of human serum N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase.