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ASPA Gene(Protein Coding)

Aspartoacylase

GCID:
GC17P003472
GIFtS:
54
Genes Participants
UDN Logo

Aliases for ASPA Gene

Aliases for ASPA Gene

  • Aspartoacylase 2 3 3 5
  • Aminoacylase 2 2 3
  • EC 3.5.1.15 4 56
  • ACY-2 3 4
  • ACY2 3 4
  • ASP 3 4
  • Aspartoacylase (Aminoacylase 2, Canavan Disease) 2
  • Canavan Disease 2
  • Aminoacylase-2 4

External Ids for ASPA Gene

Previous GeneCards Identifiers for ASPA Gene

  • GC17P003693
  • GC17P003330
  • GC17P003585
  • GC17P003326
  • GC17P003269
  • GC17P003376

Summaries for ASPA Gene

Entrez Gene Summary for ASPA 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 scavenger in other tissues. Mutations in this gene cause Canavan disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for ASPA Gene

ASPA (Aspartoacylase) is a Protein Coding gene. Diseases associated with ASPA include Canavan Disease and Mild Canavan Disease. Among its related pathways are Viral mRNA Translation and Metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity, acting on ester bonds and aminoacylase activity. An important paralog of this gene is ACY3.

UniProtKB/Swiss-Prot for ASPA Gene

  • 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 it act as a scavenger of NAA from body fluids.

Additional gene information for ASPA Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASPA Gene

Genomics for ASPA Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for ASPA Gene

Promoters and enhancers for ASPA Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH17I003473 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 560.8 +2.7 2742 3 FOXA2 ZBTB40 RAD21 ETS1 YY1 ZNF350 CREM THAP11 RXRA REST ASPA PIR41418 SPATA22
GH17I003471 Promoter 0.5 EPDnew 550.8 -0.5 -535 0.1 ASPA GC17M003470 SPATA22
GH17I003528 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 32.2 +58.0 58035 3.8 SOX13 TFAP4 KLF1 SAP130 ZFP64 ARID4B ZMYM3 DMAP1 ZNF644 TEAD3 TRPV3 ASPA OR1E2 CAMKK1 TRPV1 GC17M003518 SPATA22
GH17I003556 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 7.2 +85.8 85775 3.1 HDGF PKNOX1 CLOCK SIN3A TCF12 ATF7 FOS RUNX3 JUNB ZNF592 TRPV3 SHPK ASPA ENSG00000263338
GH17I003386 Enhancer 0.5 FANTOM5 13.1 -86.1 -86062 0.4 POLR2A EZH2 OR3A1 OR3A2 OR1R1P SPATA22 ASPA OR3A3 OR1E2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ASPA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ASPA gene promoter:

Genomic Locations for ASPA Gene

Genomic Locations for ASPA Gene
chr17:3,472,374-3,503,419
(GRCh38/hg38)
Size:
31,046 bases
Orientation:
Plus strand
chr17:3,375,668-3,406,713
(GRCh37/hg19)

Genomic View for ASPA Gene

Genes around ASPA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASPA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASPA Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ASPA Gene

Proteins for ASPA Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for ASPA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P45381-ACY2_HUMAN
    Recommended name:
    Aspartoacylase
    Protein Accession:
    P45381

    Protein attributes for ASPA Gene

    Size:
    313 amino acids
    Molecular mass:
    35735 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for ASPA Gene

neXtProt entry for ASPA Gene

Protein Expression for ASPA Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ASPA Gene

P45381:
  • KPFITNPRAV
  • DLHNTTSNMG
  • PGDPMFLTLDG
  • TLILEDS
  • LKYATTRSIAK
  • GGTHGNE
  • FNEGKEFPPCAIEVYKI
  • GPQPQGV
  • KCTRYID
  • PYEVRRAQE
  • NEAAYYEK

Post-translational modifications for ASPA Gene

No Post-translational modifications

Other Protein References for ASPA Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ASPA Gene

Gene Families for ASPA Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for ASPA Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ASPA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P45381

UniProtKB/Swiss-Prot:

ACY2_HUMAN :
  • Belongs to the AspA/AstE family. Aspartoacylase subfamily.
Family:
  • Belongs to the AspA/AstE family. Aspartoacylase subfamily.
genes like me logo Genes that share domains with ASPA: view

Function for ASPA Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for ASPA Gene

GENATLAS Biochemistry:
aspartoacylase,36kDa,expressed in skeletal muscle,kidney,brain,hydrolyzing preferentially N-acetyl-L-aspartic acid
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: Vmax=1.2 nmol/h/mg enzyme {ECO:0000269 PubMed:28101991};
UniProtKB/Swiss-Prot CatalyticActivity:
N-acyl-L-aspartate + H(2)O = a carboxylate + L-aspartate.
UniProtKB/Swiss-Prot 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 it act as a scavenger of NAA from body fluids.

Enzyme Numbers (IUBMB) for ASPA Gene

Phenotypes From GWAS Catalog for ASPA Gene

Gene Ontology (GO) - Molecular Function for ASPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004046 aminoacylase activity TAS 8252036
GO:0005515 protein binding IPI 22284616
GO:0016787 hydrolase activity IEA --
GO:0016788 hydrolase activity, acting on ester bonds IEA --
GO:0016811 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides IEA --
genes like me logo Genes that share ontologies with ASPA: view
genes like me logo Genes that share phenotypes with ASPA: view

Human Phenotype Ontology for ASPA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ASPA Gene

MGI Knock Outs for ASPA:

Animal Model Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for ASPA Gene

Localization for ASPA Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASPA Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ASPA gene
Compartment Confidence
extracellular 5
cytosol 5
nucleus 4
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ASPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA,TAS --
GO:0070062 extracellular exosome HDA,IDA 23376485
genes like me logo Genes that share ontologies with ASPA: view

Pathways & Interactions for ASPA Gene

genes like me logo Genes that share pathways with ASPA: view

Gene Ontology (GO) - Biological Process for ASPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006533 aspartate catabolic process TAS 8252036
GO:0008152 metabolic process IEA --
GO:0008652 cellular amino acid biosynthetic process TAS --
GO:0022010 central nervous system myelination IEA --
GO:0048714 positive regulation of oligodendrocyte differentiation IEA --
genes like me logo Genes that share ontologies with ASPA: view

No data available for SIGNOR curated interactions for ASPA Gene

Drugs & Compounds for ASPA Gene

Products:

  1. Drug

(10) Drugs for ASPA Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Aspartic acid Approved Nutra Target 0
Zinc Approved, Investigational Pharma Target, cofactor 2430
Formic acid Approved, Experimental, Investigational Pharma 0
Palmitic Acid Approved, Experimental Pharma Full agonist, Agonist 23
Stearic acid Approved, Experimental Pharma 0

(14) Additional Compounds for ASPA Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Arachidic acid
  • Arachate
  • Arachic acid
  • Arachidate
  • Arachidic acid
  • Eicosanoate
 506-30-9
Heptadecanoic acid
  • Heptadecanoate
  • Heptadecanoic acid
  • Margarate
  • Margaric acid
  • Margarinate
 506-12-7
Heptadecanoyl CoA
  • Heptadecanoate
  • Heptadecanoic acid
  • Heptadecanoic acid coa
  • Heptadecanoyl coenzyme A
  • Heptadecanoyl-coA
 3546-17-6
N-Acetyl-L-aspartic acid
  • (2S)-2-acetamidobutanedioate
  • (2S)-2-acetamidobutanedioic acid
  • (S)-2-(acetylamino)butanedioate
  • (S)-2-(acetylamino)butanedioic acid
  • (S)-2-(acetylamino)succinic acid
 997-55-7
N-Formyl-L-aspartate
genes like me logo Genes that share compounds with ASPA: view

Transcripts for ASPA Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ASPA Gene

(3) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(38) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ASPA Gene

Aspartoacylase:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ASPA Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c
SP1:
SP2: -
SP3:

Relevant External Links for ASPA Gene

GeneLoc Exon Structure for
ASPA
ECgene alternative splicing isoforms for
ASPA

Expression for ASPA Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ASPA Gene

mRNA expression in normal human tissues for ASPA Gene
mRNA expression by BioGPS for ASPA GenemRNA expression by GTEx for ASPA Gene

mRNA differential expression in normal tissues according to GTEx for ASPA Gene

This gene is overexpressed in Brain - Hippocampus (x4.6), Brain - Spinal cord (cervical c-1) (x4.6), and Brain - Substantia nigra (x4.5).

Protein differential expression in normal tissues from HIPED for ASPA Gene

This gene is overexpressed in Skin (8.1) and Kidney (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ASPA Gene



Protein tissue co-expression partners for ASPA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ASPA Gene:

ASPA

SOURCE GeneReport for Unigene cluster for ASPA Gene:

Hs.171142

mRNA Expression by UniProt/SwissProt for ASPA Gene:

P45381-ACY2_HUMAN
Tissue specificity: Brain white matter, skeletal muscle, kidney, adrenal glands, lung and liver.

Evidence on tissue expression from TISSUES for ASPA Gene

  • Nervous system(4.5)
  • Kidney(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ASPA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • mouth
  • pharynx
  • skull
Thorax:
  • heart
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with ASPA: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ASPA Gene

Orthologs for ASPA Gene

This gene was present in the common ancestor of chordates.

Orthologs for ASPA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia ASPA 33 34
  • 99.57 (n)
dog
(Canis familiaris)
 Mammalia ASPA 33 34
  • 90.73 (n)
cow
(Bos Taurus)
 Mammalia ASPA 33 34
  • 90.38 (n)
mouse
(Mus musculus)
 Mammalia Aspa 33 16 34
  • 86.75 (n)
rat
(Rattus norvegicus)
 Mammalia Aspa 33
  • 85.58 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia ASPA 34
  • 77 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia ASPA 34
  • 51 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ASPA 33 34
  • 76.38 (n)
lizard
(Anolis carolinensis)
 Reptilia ASPA 34
  • 69 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia aspa 33
  • 68.78 (n)
zebrafish
(Danio rerio)
 Actinopterygii aspa 33 34
  • 62.24 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 39 (a)
 OneToMany
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.709 33
Species where no ortholog for ASPA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ASPA Gene

ENSEMBL:
Gene Tree for ASPA (if available)
TreeFam:
Gene Tree for ASPA (if available)

Paralogs for ASPA Gene

Paralogs for ASPA Gene

(2) SIMAP similar genes for ASPA Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ASPA: view

Variants for ASPA Gene

Sequence variations from dbSNP and Humsavar for ASPA Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1014551540 disease (CAND) [MIM:271900] 3,489,247(+) G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs104894548 pathogenic, Spongy degeneration of central nervous system, Canavan disease (CAND) [MIM:271900] 3,483,520(+) T/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs104894549 pathogenic, Spongy degeneration of central nervous system 3,494,369(+) C/A/T coding_sequence_variant, non_coding_transcript_variant, stop_gained, synonymous_variant
rs104894550 pathogenic, Spongy degeneration of central nervous system, Canavan disease (CAND) [MIM:271900] 3,494,407(+) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs104894551 pathogenic, Spongy degeneration of central nervous system, Canavan disease (CAND) [MIM:271900] 3,476,230(+) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ASPA Gene

Variant ID Type Subtype PubMed ID
esv2660206 CNV deletion 23128226
esv3892950 CNV loss 25118596
nsv1055740 CNV gain 25217958
nsv1060071 CNV loss 25217958
nsv1065489 CNV gain 25217958
nsv1116180 CNV deletion 24896259
nsv525085 CNV gain 19592680
nsv528368 CNV gain 19592680
nsv574232 CNV gain 21841781
nsv574237 CNV loss 21841781
nsv833341 CNV loss 17160897

Variation tolerance for ASPA Gene

Residual Variation Intolerance Score: 77.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.63; 31.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASPA Gene

Human Gene Mutation Database (HGMD)
ASPA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASPA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASPA Gene

Disorders for ASPA Gene

MalaCards: The human disease database

(7) MalaCards diseases for ASPA Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
canavan disease
  • canavan-van bogaert-bertrand disease
mild canavan disease
  • juvenile canavan disease
severe canavan disease
  • infantile canavan disease
myositis ossificans
  • myisitis ossificans
leukodystrophy
  • leukodystrophies
- elite association - COSMIC cancer census association via MalaCards
Search ASPA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ACY2_HUMAN
  • Canavan disease (CAND) [MIM:271900]: A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demyelination that gives rise to a spongy appearance. The clinical features are onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average. {ECO:0000269 PubMed:10407784, ECO:0000269 PubMed:10564886, ECO:0000269 PubMed:10909858, ECO:0000269 PubMed:12205125, ECO:0000269 PubMed:12638939, ECO:0000269 PubMed:12706335, ECO:0000269 PubMed:24036223, ECO:0000269 PubMed:28101991, ECO:0000269 PubMed:7599639, ECO:0000269 PubMed:7668285, ECO:0000269 PubMed:8023850, ECO:0000269 PubMed:8252036, ECO:0000269 PubMed:8659549, ECO:0000269 PubMed:9452117}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ASPA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ASPA: view

No data available for Genatlas for ASPA Gene

Publications for ASPA Gene

  1. Structure of aspartoacylase, the brain enzyme impaired in Canavan disease. (PMID: 17194761) Bitto E … Phillips GN (Proceedings of the National Academy of Sciences of the United States of America 2007) 3 4 22 25 58
  2. Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease. (PMID: 8252036) Kaul R … Matalon R (Nature genetics 1993) 2 3 4 22 58
  3. Examination of the mechanism of human brain aspartoacylase through the binding of an intermediate analogue. (PMID: 18293939) Le Coq J … Viola RE (Biochemistry 2008) 3 4 22 58
  4. Identification of the zinc binding ligands and the catalytic residue in human aspartoacylase, an enzyme involved in Canavan disease. (PMID: 17027983) Herga S … Giardina T (FEBS letters 2006) 3 4 22 58
  5. Purification and preliminary characterization of brain aspartoacylase. (PMID: 12706335) Moore RA … Viola RE (Archives of biochemistry and biophysics 2003) 3 4 22 58

Products for ASPA Gene

Sources for ASPA Gene

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