Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	443
Gene name Gene Name - the full gene name approved by the HGNC.	Aspartoacylase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ASPA
Synonyms (NCBI Gene) Gene synonyms aliases	ACY2, ASP
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17p13.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes an enzyme that catalyzes the conversion of N-acetyl_L-aspartic acid (NAA) to aspartate and acetate. NAA is abundant in the brain where hydrolysis by aspartoacylase is thought to help maintain white matter. This protein is an NAA scavenge

Show/Hide all(30)

miRTarBase ID	miRNA	Experiments	Reference
MIRT052301	hsa-let-7b-5p	CLASH	23622248
MIRT711580	hsa-miR-6887-3p	HITS-CLIP	19536157
MIRT711578	hsa-miR-6795-3p	HITS-CLIP	19536157
MIRT711579	hsa-miR-6826-3p	HITS-CLIP	19536157
MIRT711577	hsa-miR-4713-5p	HITS-CLIP	19536157
MIRT711576	hsa-miR-6867-3p	HITS-CLIP	19536157
MIRT711575	hsa-miR-629-3p	HITS-CLIP	19536157
MIRT447683	hsa-miR-551b-5p	PAR-CLIP	22100165
MIRT447682	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT447681	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT447683	hsa-miR-551b-5p	PAR-CLIP	22100165
MIRT447682	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT447681	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT711580	hsa-miR-6887-3p	HITS-CLIP	19536157
MIRT711578	hsa-miR-6795-3p	HITS-CLIP	19536157
MIRT711579	hsa-miR-6826-3p	HITS-CLIP	19536157
MIRT711577	hsa-miR-4713-5p	HITS-CLIP	19536157
MIRT711576	hsa-miR-6867-3p	HITS-CLIP	19536157
MIRT711575	hsa-miR-629-3p	HITS-CLIP	19536157
MIRT447683	hsa-miR-551b-5p	PAR-CLIP	22100165
MIRT447682	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT447681	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT447683	hsa-miR-551b-5p	PAR-CLIP	22100165
MIRT447682	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT447681	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT803104	hsa-miR-218	CLIP-seq
MIRT803105	hsa-miR-636	CLIP-seq
MIRT1937191	hsa-miR-28-5p	CLIP-seq
MIRT1937192	hsa-miR-3139	CLIP-seq
MIRT1937193	hsa-miR-708	CLIP-seq

Show/Hide all(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	22284616, 25416956, 25910212, 32296183, 32814053
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006083	Process	Acetate metabolic process	IEA
GO:0006531	Process	Aspartate metabolic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016788	Function	Hydrolase activity, acting on ester bonds	IEA
GO:0016811	Function	Hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	IBA
GO:0016811	Function	Hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	IEA
GO:0019807	Function	Aspartoacylase activity	IDA	8252036
GO:0019807	Function	Aspartoacylase activity	IEA
GO:0042802	Function	Identical protein binding	IPI	16189514, 17194761
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
608034	756	ENSG00000108381

Protein

UniProt ID

P45381

Protein name

Aspartoacylase (EC 3.5.1.15) (Aminoacylase-2) (ACY-2)

Protein function

Catalyzes the deacetylation of N-acetylaspartic acid (NAA) to produce acetate and L-aspartate. NAA occurs in high concentration in brain and its hydrolysis NAA plays a significant part in the maintenance of intact white matter. In other tissues

PDB

2I3C , 2O4H , 2O53 , 2Q51 , 4MRI , 4MXU , 4NFR , 4TNU

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04952	AstE_AspA	10 → 301	Succinylglutamate desuccinylase / Aspartoacylase family	Domain

Tissue specificity

TISSUE SPECIFICITY: Brain white matter, skeletal muscle, kidney, adrenal glands, lung and liver. {ECO:0000269|PubMed:8252036}.

Sequence

MTSCHIAEEHIQKVAIFGGTHGNELTGVFLVKHWLENGAEIQRTGLEVKPFITNPRAVKK
CTRYIDCDLNRIFDLENLGKKMSEDLPYEVRRAQEINHLFGPKDSEDSYDIIFDLHNTTS
NMGCTLILEDSRNNFLIQMFHYIKTSLAPLPCYVYLIEHPSLKYATTRSIAKYPVGIEVG
PQPQGVLRADILDQMRKMIKHALDFIHHFNEGKEFPPCAIEVYKIIEKVDYPRDENGEIA
AIIHPNLQDQDWKPLHPGDPMFLTLDGKTIPLGGDCTVYPVFVNEAAYYEKKEAFAKTTK
LTLNAKSIRCCLH

Sequence length

313

Interactions

View interactions

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Canavan Disease	canavan disease, familial form, mild canavan disease	rs767666474, rs780936696, rs753871454, rs786204572, rs1555538144, rs28940279, rs761064915, rs1014551540, rs104894548, rs774323189, rs28940574, rs756198538, rs104894549, rs1057516995, rs12948217 View all (6 more)	N/A
autism	Autism	rs753871454	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Mental retardation	intellectual disability	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Breast Neoplasms	Associate	37247276
Canavan Disease	Associate	16669630, 17027983, 17391648, 20393311, 20637281, 23253610, 24278309, 28101991, 29795570, 30834272, 33914734, 36202930, 38309148, 7668285, 8037206
Carcinoma Non Small Cell Lung	Associate	36202977
Colonic Neoplasms	Associate	34564978
Crohn Disease	Associate	36202930
Focal Cortical Dysplasia	Associate	34301297
Focal cortical dysplasia of Taylor	Associate	34301297
Gaucher Disease	Associate	29795570
Glioblastoma	Associate	28245795
Leukodystrophy Metachromatic	Associate	24278309, 30834272
Neoplasms	Associate	24278309, 37391709
Neuroblastoma	Associate	21128244
Oligodendroglioma	Associate	24278309
Stomach Neoplasms	Associate	37391709

ASPA (aspartoacylase)