ASPA (aspartoacylase)

2016-10-01  

Identity

HGNC
LOCATION
17p13.2
LOCUSID
ALIAS
ACY2,ASP
FUSION GENES

Other Information

Locus ID:

NCBI: 443
MIM: 608034
HGNC: 756
Ensembl: ENSG00000108381

Variants:

dbSNP: 443
ClinVar: 443
TCGA: ENSG00000108381
COSMIC: ASPA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000108381ENST00000263080P45381
ENSG00000108381ENST00000263080Q6FH48
ENSG00000108381ENST00000456349P45381
ENSG00000108381ENST00000456349Q6FH48
ENSG00000108381ENST00000571278I3L4M0
ENSG00000108381ENST00000577034I3L0T3

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
Histidine metabolismKEGGko00340
Histidine metabolismKEGGhsa00340
Alanine, aspartate and glutamate metabolismKEGGko00250
Alanine, aspartate and glutamate metabolismKEGGhsa00250
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Amino acid synthesis and interconversion (transamination)REACTOMER-HSA-70614

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
202019262010Human variation in alcohol response is influenced by variation in neuronal signaling genes.45
169359402006Aspartoacylase is a regulated nuclear-cytoplasmic enzyme.21
171947612007Structure of aspartoacylase, the brain enzyme impaired in Canavan disease.19
126389392002Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.14
166696302006Characterization of human aspartoacylase: the brain enzyme responsible for Canavan disease.12
182649472008Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated?12
164375722006Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene.11
146996122004Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay.8
182939392008Examination of the mechanism of human brain aspartoacylase through the binding of an intermediate analogue.7
173916482007Mutational analysis of aspartoacylase: implications for Canavan disease.5

Citation

Dessen P

ASPA (aspartoacylase)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56197/aspa