Property Summary

NCBI Gene PubMed Count 20
Grant Count 19
Funding $4,909,929.5
PubMed Score 89.07
PubTator Score 29.95

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
astrocytic glioma -1.200 0.002
posterior fossa group B ependymoma -1.600 0.000
psoriasis 1.300 0.000
medulloblastoma -1.800 0.000
atypical teratoid / rhabdoid tumor -1.300 0.000
glioblastoma -1.200 0.005
medulloblastoma, large-cell -1.700 0.003
primitive neuroectodermal tumor -1.600 0.001
adult high grade glioma -1.100 0.017
Pick disease -1.400 0.000
ovarian cancer 1.100 0.000

Gene RIF (7)

PMID Text
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

MATSTGRWLLLRLALFGFLWEASGGLDSGASRDDDLLLPYPRARARLPRDCTRVRAGNREHESWPPPPAT      1 - 70
PGAGGLAVRTFVSHFRDRAVAGHLTRAVEPLRTFSVLEPGGPGGCAARRRATVEETARAADCRVAQNGGF     71 - 140
FRMNSGECLGNVVSDERRVSSSGGLQNAQFGIRRDGTLVTGYLSEEEVLDTENPFVQLLSGVVWLIRNGS    141 - 210
IYINESQATECDETQETGSFSKFVNVISARTAIGHDRKGQLVLFHADGQTEQRGINLWEMAEFLLKQDVV    211 - 280
NAINLDGGGSATFVLNGTLASYPSDHCQDNMWRCPRQVSTVVCVHEPRCQPPDCHGHGTCVDGHCQCTGH    281 - 350
FWRGPGCDELDCGPSNCSQHGLCTETGCRCDAGWTGSNCSEECPLGWHGPGCQRPCKCEHHCPCDPKTGN    351 - 420
CSVSRVKQCLQPPEATLRAGELSFFTRTAWLALTLALAFLLLISTAANLSLLLSRAERNRRLHGDYAYHP    421 - 490
LQEMNGEPLAAEKEQPGGAHNPFKD                                                 491 - 515
//

Publication (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.
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