Property Summary

NCBI Gene PubMed Count 43
PubMed Score 105.10
PubTator Score 140.64

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Myopia 99
Disease Target Count Z-score Confidence
Globe disease 57 0.0 2.0
Disease Target Count Z-score Confidence
Leukodystrophy 30 0.0 4.0
Disease Target Count Z-score Confidence
Sialuria 9 3.076 1.5
Argininosuccinic aciduria 17 3.069 1.5

Expression

  Differential Expression (33)

Disease log2 FC p
urothelial carcinoma -2.500 6.4e-04
psoriasis -1.500 3.8e-07
astrocytoma -1.100 9.2e-05
glioblastoma -2.100 2.5e-03
oligodendroglioma -1.300 5.3e-05
osteosarcoma -2.692 1.5e-04
group 3 medulloblastoma -3.400 1.9e-04
atypical teratoid/rhabdoid tumor -3.300 4.3e-10
medulloblastoma, large-cell -2.900 9.4e-05
primitive neuroectodermal tumor -2.400 4.5e-04
Atopic dermatitis -1.400 6.2e-04
adrenocortical carcinoma -1.432 4.2e-03
non-small cell lung cancer -2.162 2.6e-33
intraductal papillary-mucinous adenoma (... -1.600 2.2e-02
intraductal papillary-mucinous carcinoma... -2.700 3.8e-04
intraductal papillary-mucinous neoplasm ... -2.300 5.1e-03
lung cancer -4.700 1.6e-06
colon cancer -3.700 8.3e-06
active ulcerative colitis -1.898 1.4e-02
breast carcinoma -1.400 2.3e-03
fibroadenoma -2.000 1.4e-02
lung adenocarcinoma -2.100 7.5e-20
pediatric high grade glioma -2.700 3.0e-05
pilocytic astrocytoma -2.500 1.8e-06
Breast cancer -1.400 4.7e-02
lung carcinoma -1.800 1.3e-13
Pick disease -1.200 8.4e-03
progressive supranuclear palsy -2.500 5.6e-03
mucosa-associated lymphoid tissue lympho... 1.523 2.8e-02
ductal carcinoma in situ -2.900 7.6e-04
invasive ductal carcinoma -3.500 8.3e-04
ovarian cancer -2.200 9.7e-10
Down syndrome 1.600 2.8e-03

 OMIM Phenotype (1)

 GWAS Trait (1)

Protein-protein Interaction (2)

Gene RIF (19)

PMID Text
25003821 Four ASPA missense mutations associated with Canavan disease are structurally characterized.
24632142 Definitive evidence is presented to show that the recombinantly-expressed human aspartoacylase is not a glycoprotein.
24036223 report of 2 Egyptian sibling patients suspected of Canavan disease (CD); study revealed homozygosity for substitution T530C (Ile177Thr) in exon 4 of the ASPA gene in both sibs; substitution T530C (Ile177Thr) results in a novel missense mutation causing a CD phenotype with severe clinical characteristics
22878930 This is the first case report of ASPA mutation studies in Canavan disease from Indian subcontinent.
22750302 Human aspartoacylase gene expression was high not only in brain and kidney, but also in lung and liver.
22468686 a novel mutation Y88X within the aspartoacylase gene in a consanguineous family with an affected child diagnosed as Canavan disease.
22219087 Gene ASPA (NM_000049) was undertaken to sequence for mutation analysis.
22019069 We report on an Italian female patient with Canavan disease due to a missense mutation of the aspartoacylase gene and a 17p13.3 chromosomal microdeletion
20201926 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
18293939 New structure of human aspartoacylase complexed with a catalytic intermediate analogue, N-phosphonomethyl- l-aspartate, supports a carboxypeptidase-type mechanism for hydrolysis of the amide bond of the substrate, N-acetyl- l-aspartate.
18264947 Observational study of genotype prevalence. (HuGE Navigator)
17391648 These results show that aspartoacylase is a member of the caboxypeptidase A family and offer novel explanations for most loss-of-function aspartoacylase mutations associated with Canavan Disease.
17194761 the N-terminal domain of aspartoacylase adopts a protein fold similar to that of zinc-dependent hydrolases related to carboxypeptidases A
17027983 The finding that wild-type and Glu178Asp have the same K(m) but different k(cat) values confirms the idea that the carboxylate group contributes importantly to the enzymatic activity of aspartoacylase.
16935940 a green fluorescent protein-human ASPA fusion protein larger than the permissible size for the nuclear pore complex was enzymatically active and showed mixed nuclear-cytoplasmic distribution.
16669630 molecular weight of the purified enzyme is higher than predicted, suggesting the presence of post-translational modifications. Deglycosylation of aspartoacylase or mutation at glycosylation site causes decreased enzyme stability and catalytic activity
16437572 Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene
14699612 Observational study of genotype prevalence. (HuGE Navigator)
12638939 the ASPA gene was analysed in 22 unrelated non-Jewish patients with Canavan disease, and 24 different mutations were found

AA Sequence

MTSCHIAEEHIQKVAIFGGTHGNELTGVFLVKHWLENGAEIQRTGLEVKPFITNPRAVKKCTRYIDCDLN      1 - 70
RIFDLENLGKKMSEDLPYEVRRAQEINHLFGPKDSEDSYDIIFDLHNTTSNMGCTLILEDSRNNFLIQMF     71 - 140
HYIKTSLAPLPCYVYLIEHPSLKYATTRSIAKYPVGIEVGPQPQGVLRADILDQMRKMIKHALDFIHHFN    141 - 210
EGKEFPPCAIEVYKIIEKVDYPRDENGEIAAIIHPNLQDQDWKPLHPGDPMFLTLDGKTIPLGGDCTVYP    211 - 280
VFVNEAAYYEKKEAFAKTTKLTLNAKSIRCCLH                                         281 - 313
//

Text Mined References (43)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
25003821 2014 Aspartoacylase catalytic deficiency as the cause of Canavan disease: a structural perspective.
24632142 2014 Reexamination of aspartoacylase: is this human enzyme really a glycoprotein?
24036223 2013 New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23049088 2012 A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.
22878930 2013 Molecular characterisation and prenatal diagnosis of Asparto-acylase deficiency (Canavan disease)--report of two novel and two known mutations from the Indian subcontinent.
22750302 2012 Expression of aspartoacylase (ASPA) and Canavan disease.
22468686 2012 A novel aspartoacylase (ASPA) gene mutation in Canavan disease.
22284616 2012 Expression and localization of myosin-1d in the developing nervous system.
22219087 2012 A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family.
22019069 2011 Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation.
20201926 2010 Human variation in alcohol response is influenced by variation in neuronal signaling genes.
18293939 2008 Examination of the mechanism of human brain aspartoacylase through the binding of an intermediate analogue.
18264947 2008 Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated?
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17391648 2007 Mutational analysis of aspartoacylase: implications for Canavan disease.
17194761 2007 Structure of aspartoacylase, the brain enzyme impaired in Canavan disease.
17027983 2006 Identification of the zinc binding ligands and the catalytic residue in human aspartoacylase, an enzyme involved in Canavan disease.
16935940 2006 Aspartoacylase is a regulated nuclear-cytoplasmic enzyme.
16669630 2006 Characterization of human aspartoacylase: the brain enzyme responsible for Canavan disease.
16437572 2006 Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14699612 2004 Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay.
12706335 2003 Purification and preliminary characterization of brain aspartoacylase.
12638939 2002 Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12205125 2002 Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease.
10909858 2000 Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population.
10837925 2000 Murine aspartoacylase: cloning, expression and comparison with the human enzyme.
10564886 1999 Novel missense mutation (Y231C) in a turkish patient with canavan disease.
10407784 1999 The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.
9452117 1998 Missense mutation (I143T) in a Japanese patient with Canavan disease.
9407392 1997 Canavan disease. Analysis of the nature of the metabolic lesions responsible for development of the observed clinical symptoms.
8659549 1996 Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease.
8252036 1993 Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.
8088831 1994 Canavan disease: genomic organization and localization of human ASPA to 17p13-ter and conservation of the ASPA gene during evolution.
8023850 1994 Canavan disease: mutations among Jewish and non-Jewish patients.
7668285 1995 The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients.
7599639 1995 Novel (cys152 > arg) missense mutation in an Arab patient with Canavan disease.
3116332 1987 N-acetylaspartic aciduria due to aspartoacylase deficiency--a new aetiology of childhood leukodystrophy.
27051 1978 Polymorphism of the cobalt-activated acylase in human tissues.