Property Summary

NCBI Gene PubMed Count 48
Grant Count 25
R01 Count 14
Funding $6,060,777.34
PubMed Score 345.83
PubTator Score 120.16

Knowledge Summary

Patent

No data available

Expression

Gene RIF (7)

PMID Text
23271757 study reports 2 novel aspartylglucosaminidase gene mutations, one in Qatari twins with an early, perinatal presentation not previously described for aspartylglucosaminuria and the other in 3 Turkish children with newly diagnosed aspartylglucosaminuria and a more classical disease course
21854356 [review] Natural killer (NK) cell tumors, subtypes of myeloid leukemias and T-cell lymphomas respond to ASNase; ovarian carcinomas and other solid tumors have been proposed as additional targets for ASNase, with a potential role for glutaminase. activity.
19100247 Increased AGA plasma activity, although a consistent finding in congenital disorders of glycosylation patients, is not specific to this group of disorders.
18992224 The amino acid substitutions in aspartylglucosaminidase responsible for aspartylglucosaminuria were classified and divided in three groups.
16435229 aspartylglucosaminidase may have a role in development of congenital disorders of glycosylation type I
15365992 A new point mutation, c.44T>G, found in a Finnish compound heterozygote causes a L15R AA substitution in the signal sequence of the AGA enzyme, affecting AGA translocation by altering a critical hydrophobic core structure in the signal sequence.
14616088 Molecular mechanism for the autoproteolytic activation of aspartylglucosaminidase.

AA Sequence

MARKSNLPVLLVPFLLCQALVRCSSPLPLVVNTWPFKNATEAAWRALASGGSALDAVESGCAMCEREQCD      1 - 70
GSVGFGGSPDELGETTLDAMIMDGTTMDVGAVGDLRRIKNAIGVARKVLEHTTHTLLVGESATTFAQSMG     71 - 140
FINEDLSTTASQALHSDWLARNCQPNYWRNVIPDPSKYCGPYKPPGILKQDIPIHKETEDDRGHDTIGMV    141 - 210
VIHKTGHIAAGTSTNGIKFKIHGRVGDSPIPGAGAYADDTAGAAAATGNGDILMRFLPSYQAVEYMRRGE    211 - 280
DPTIACQKVISRIQKHFPEFFGAVICANVTGSYGAACNKLSTFTQFSFMVYNSEKNQPTEEKVDCI        281 - 346
//

Text Mined References (52)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25645918 2015 Human neutrophils secrete bioactive paucimannosidic proteins from azurophilic granules into pathogen-infected sputum.
25192705 2014 No evidence of gene-calcium interactions from genome-wide analysis of colorectal cancer risk.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24009623 2013 Genome-wide association study for biomarker identification of Rapamycin and Everolimus using a lymphoblastoid cell line system.
23698163 2013 Genome-wide association study of serum selenium concentrations.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23271757 2014 Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family.
21854356 2012 Expanding targets for a metabolic therapy of cancer: L-asparaginase.
21269460 2011 Initial characterization of the human central proteome.
More...