Property Summary

NCBI Gene PubMed Count 31
Grant Count 11
R01 Count 7
Funding $958,006.84
PubMed Score 155.29
PubTator Score 123.57

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
malignant mesothelioma -1.400 0.000
osteosarcoma -1.142 0.005
posterior fossa group A ependymoma 1.300 0.000
astrocytoma 1.500 0.036
glioblastoma 1.200 0.020
tuberculosis 2.100 0.000
pilocytic astrocytoma 1.400 0.000
subependymal giant cell astrocytoma 1.463 0.027

Gene RIF (8)

PMID Text
24934276 results demonstrate the utility of eQTL mapping in the identification of novel asthma genes and provide evidence for the importance of FADS2, NAGA, and F13A1 in the pathogenesis of asthma.
20444686 the active sites of human lysosomal enzymes alpha-galactosidase and alpha-N-acetylgalactosaminidase have interconvertible specificites
19853240 Use of a modified NAGA in the development of enzyme replacement therapy for Fabry disease is reported.
19683538 The active site of human alpha-NAGAL has anomeric selectivity for its catalytic product and the structure reveals a novel active-site rearrangement upon hexose ligand binding.
19394758 Specific enzymatic activity of serum alpha-N-acetylgalactosaminidase was significantly increased in stage III melanoma patients, but not in early stages.
17171432 NAGA mutation p.D217N (c.649G>A) in exon 6 and mutation p.E325K (c.973G>A) in exon 8 may have roles in alpha-N-acetylgalactosaminidase deficiency with cardiomyopathy
15619430 Structural analysis revealed biochemical and phenotypic differences in these Kanzaki patients with the R329Q and R329W mutation.
12062184 Tumor cell alpha-N-acetylgalactosaminidase activity and its involvement in GcMAF-related macrophage activation.

AA Sequence

MLLKTVLLLGHVAQVLMLDNGLLQTPPMGWLAWERFRCNINCDEDPKNCISEQLFMEMADRMAQDGWRDM      1 - 70
GYTYLNIDDCWIGGRDASGRLMPDPKRFPHGIPFLADYVHSLGLKLGIYADMGNFTCMGYPGTTLDKVVQ     71 - 140
DAQTFAEWKVDMLKLDGCFSTPEERAQGYPKMAAALNATGRPIAFSCSWPAYEGGLPPRVNYSLLADICN    141 - 210
LWRNYDDIQDSWWSVLSILNWFVEHQDILQPVAGPGHWNDPDMLLIGNFGLSLEQSRAQMALWTVLAAPL    211 - 280
LMSTDLRTISAQNMDILQNPLMIKINQDPLGIQGRRIHKEKSLIEVYMRPLSNKASALVFFSCRTDMPYR    281 - 350
YHSSLGQLNFTGSVIYEAQDVYSGDIISGLRDETNFTVIINPSGVVMWYLYPIKNLEMSQQ             351 - 411
//

Text Mined References (34)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.
24934276 2014 A genome-wide survey of CD4(+) lymphocyte regulatory genetic variants identifies novel asthma genes.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
20444686 2010 Interconversion of the specificities of human lysosomal enzymes associated with Fabry and Schindler diseases.
19853240 2009 Use of a modified alpha-N-acetylgalactosaminidase in the development of enzyme replacement therapy for Fabry disease.
19683538 2009 The 1.9 a structure of human alpha-N-acetylgalactosaminidase: The molecular basis of Schindler and Kanzaki diseases.
19394758 2009 Serum proteomic profile of cutaneous malignant melanoma and relation to cancer progression: association to tumor derived alpha-N-acetylgalactosaminidase activity.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
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