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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	443
Gene name	Aspartoacylase
Gene symbol	ASPA
Synonyms (NCBI Gene)	ACY2ASP
Chromosome	17
Chromosome location	17p13.2
Summary	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

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

	KEGG		Reactome
	Alanine, aspartate and glutamate metabolism Histidine metabolism Metabolic pathways		Aspartate and asparagine metabolism

477

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of metabolism/homeostasis	Likely pathogenic; Pathogenic	rs2073669074	RCV001814271
ASPA-related disorder	Pathogenic; Likely pathogenic	rs12948217, rs769653717	RCV004757094 RCV004757271
Autism	Likely pathogenic; Pathogenic	rs753871454	RCV004698509
Canavan Disease, Familial Form	Likely pathogenic; Pathogenic	rs1289890879, rs1057516315, rs28940279, rs104894548, rs28940574, rs104894549, rs12948217, rs104894553, rs767666474, rs780936696, rs786204572, rs761064915, rs774323189, rs201887670, rs1331100491 View all (15 more)	RCV002300610 RCV002281775 RCV000590467 RCV003387712 RCV000588914 RCV001174807 RCV000588866 RCV005237347 RCV002265655 RCV000780870 RCV002265654 RCV001293576 RCV000587229 RCV003230909 RCV004587498 RCV004701737 RCV000780872 RCV003330657 RCV001328425 RCV004689735 RCV002222362 RCV000589812 RCV001194237 RCV004768544 RCV005431863 RCV000780869 RCV003117477 RCV003323670 RCV001194236 RCV003230648
Mild Canavan disease	Likely pathogenic; Pathogenic	rs2150748728, rs104894553	RCV002274814 RCV000002734
Spongy degeneration of central nervous system	Likely pathogenic; Pathogenic	rs2150764241, rs2150741916, rs2150764223, rs2150746796, rs2150741788, rs1480068143, rs2150746934, rs1380839164, rs757607501, rs2150741666, rs2150741844, rs2150764080, rs2150741648, rs2150741763, rs1289890879 View all (108 more)	RCV001376834 RCV001381119 RCV001387392 RCV001780648 RCV001838860 RCV001838861 RCV001999634 RCV001942898 RCV002046315 RCV001943637 RCV001978144 RCV001974237 RCV001960686 RCV001939786 RCV001888622 RCV005095987 RCV002283723 RCV000002723 RCV000002724 RCV000002725 RCV000002726 RCV000002727 RCV000002730 RCV000002731 RCV000002732 RCV000002733 RCV000363108 RCV002306752 RCV002309661 RCV003475342 RCV000169442 RCV000169526 RCV000169388 RCV000169314 RCV000169117 RCV000169134 RCV003064376 RCV003064377 RCV003086631 RCV003121468 RCV002635094 RCV002711342 RCV002792089 RCV002810751 RCV002834946 RCV002880558 RCV002885185 RCV003003133 RCV003045702 RCV003029091 RCV003057961 RCV003032968 RCV003475549 RCV003472799 RCV003472825 RCV003472832 RCV003472842 RCV003472863 RCV003472867 RCV003472874 RCV003472877 RCV003472881 RCV003472889 RCV003472899 RCV003472903 RCV003472911 RCV003499146 RCV003499994 RCV003499995 RCV003499996 RCV003499997 RCV003606053 RCV003606232 RCV003606387 RCV003606264 RCV003605333 RCV003605341 RCV003605431 RCV003606892 RCV004573659 RCV004573667 RCV004573668 RCV004573673 RCV000411719 RCV000411599 RCV000411166 RCV000410405 RCV000409149 RCV000409139 RCV000410986 RCV000411129 RCV000411452 RCV000411691 RCV000409473 RCV000409212 RCV000409768 RCV000410855 RCV000675094 RCV001276652 RCV000577927 RCV002513318 RCV000671501 RCV000673780 RCV000670708 RCV000669559 RCV000670789 RCV000665338 RCV000666161 RCV000672925 RCV000665535 RCV000673064 RCV000668013 RCV000672147 RCV000665376 RCV000670116 RCV000667637 RCV000665477 RCV000668560 RCV000667104 RCV000670119 RCV000670418 RCV000819100 RCV000819561 RCV001004408 RCV001004409 RCV001004410 RCV001041199 RCV001046703 RCV001090094 RCV001170055 RCV001828602 RCV001222487 RCV001248818 RCV001264316

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Fraser syndrome 3	Conflicting classifications of pathogenicity	rs773849106	RCV001251015
Intellectual disability	Conflicting classifications of pathogenicity	rs144321760	RCV001252156
Uveal melanoma	Uncertain significance	rs778770959	RCV005931883

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)