Aliases for ASPA Gene
Aliases for ASPA Gene
External Ids for ASPA Gene
- HGNC: 756
- Entrez Gene: 443
- Ensembl: ENSG00000108381
- OMIM: 608034
- UniProtKB: P45381
Previous GeneCards Identifiers for ASPA Gene
- GC17P003693
- GC17P003330
- GC17P003585
- GC17P003326
- GC17P003269
- GC17P003376
Summaries 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
- Monarch Initiative
- Search for ASPA at DataMed
- Search for ASPA at HumanCyc
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
GeneHancer (GH) Regulatory Elements 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 |
Regulatory Element Products
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
- Cytogenetic band:
-
- 17p13.2 by Ensembl
- 17p13.2 by Entrez Gene
- 17p13.2 by HGNC


RefSeq DNA sequence for ASPA Gene
Proteins for ASPA Gene
-
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.
Protein Expression for ASPA Gene
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
Other Protein References for ASPA Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for ASPA
-
Abcam antibodies for ASPA
- Invitrogen Antibodies for ASPA
- GeneTex ASPA antibody for ASPA
-
Santa Cruz Biotechnology (SCBT) Antibodies for ASPA
Protein Products
-
OriGene Purified Proteins for ASPA
- Search Origene for MassSpec and Protein Over-expression Lysates for ASPA
- Origene Custom Protein Services for ASPA
- ProSpec Recombinant Proteins for ASPA
- GeneTex Proteins for ASPA
-
Abcam proteins for ASPA
Assay Products
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- Family:
-
- Belongs to the AspA/AstE family. Aspartoacylase subfamily.
Function for ASPA Gene
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
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 | -- |
Phenotypes for ASPA Gene
- MGI mutant phenotypes for ASPA:
-
inferred from 6 alleles
- nervous system phenotype
- normal phenotype
- homeostasis/metabolism phenotype
- muscle phenotype
- mortality/aging
- behavior/neurological phenotype
- growth/size/body region phenotype
- vision/eye phenotype
- hearing/vestibular/ear phenotype
- integument phenotype
- hematopoietic system phenotype
- skeleton phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for ASPA:
Animal Models for ASPA Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for ASPA
-
-
ViGene Biosciences lentiviral particle packaged cDNA for ASPA gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ASPA gene
- Search ViGene Biosciences for ASPA
CRISPR Products
-
OriGene CRISPR knockouts for ASPA
- genomics-online: gRNA clones - Search results for 113 available ASPA gene related products
- Overview of 113 available ASPA gene related products
- Applied Biological Materials CRISPR for ASPA
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ASPA
- GenScript: Design CRISPR guide RNA sequences for ASPA
miRNA for ASPA Gene
- miRTarBase miRNAs that target ASPA
-
- hsa-let-7b-5p (MIRT052301)
- hsa-mir-203a-3p (MIRT447681)
- hsa-mir-100-3p (MIRT447682)
- hsa-mir-551b-5p (MIRT447683)
- hsa-mir-629-3p (MIRT711575)
- hsa-mir-6867-3p (MIRT711576)
- hsa-mir-4713-5p (MIRT711577)
- hsa-mir-6795-3p (MIRT711578)
- hsa-mir-6826-3p (MIRT711579)
- hsa-mir-6887-3p (MIRT711580)
- hsa-mir-1273h-5p (MIRT762019)
- hsa-mir-149-3p (MIRT762767)
- hsa-mir-1827 (MIRT763009)
- hsa-mir-25-5p (MIRT764204)
- hsa-mir-30b-3p (MIRT764557)
- hsa-mir-3192-5p (MIRT765407)
- hsa-mir-3622b-5p (MIRT766158)
- hsa-mir-3689a-3p (MIRT766785)
- hsa-mir-3689b-3p (MIRT766873)
- hsa-mir-3689c (MIRT766961)
- hsa-mir-4327 (MIRT768660)
- hsa-mir-4537 (MIRT770124)
- hsa-mir-455-3p (MIRT770267)
- hsa-mir-4649-3p (MIRT770612)
- hsa-mir-4722-5p (MIRT771529)
- hsa-mir-4728-5p (MIRT771682)
- hsa-mir-4768-3p (MIRT772056)
- hsa-mir-490-3p (MIRT772693)
- hsa-mir-5197-5p (MIRT773659)
- hsa-mir-6087 (MIRT775644)
- hsa-mir-6499-3p (MIRT776197)
- hsa-mir-6516-5p (MIRT777062)
- hsa-mir-6779-5p (MIRT778862)
- hsa-mir-6780a-5p (MIRT778953)
- hsa-mir-6785-5p (MIRT779092)
- hsa-mir-6799-5p (MIRT779383)
- hsa-mir-6808-5p (MIRT779642)
- hsa-mir-6883-5p (MIRT780888)
- hsa-mir-6893-5p (MIRT781175)
- hsa-mir-7106-5p (MIRT781319)
- hsa-mir-7851-3p (MIRT782189)
- hsa-mir-940 (MIRT782869)
miRNA Products
- Search ViGene Biosciences for ASPA
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ASPA
- Browse OriGene Inhibitory RNA Products For ASPA
- genomics-online: shRNA clones - Search results for 113 available ASPA gene related products
- Overview of 113 available ASPA gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for ASPA gene
Clone Products
- Sino Biological Human cDNA Clone for ASPA
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for ASPA
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ASPA
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for ASPA
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for ASPA
-
ViGene Biosciences adenoviral particle packaged cDNA for ASPA gene
-
ViGene Biosciences lentiviral particle packaged cDNA for ASPA gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ASPA gene
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.
- Cytosol (1)
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 |
Pathways & Interactions for ASPA Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism |
.37
|
|
2 | Alanine, aspartate and glutamate metabolism | ||
3 | Histidine metabolism | ||
4 | Amino acid synthesis and interconversion (transamination) | ||
5 | Viral mRNA Translation |
Pathways by source for ASPA Gene
1 BioSystems pathway for ASPA Gene
3 Reactome pathways for ASPA Gene
3 KEGG pathways for ASPA Gene
Interacting Proteins 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 | -- |
No data available for SIGNOR curated interactions for ASPA Gene
Drugs & Compounds for ASPA Gene
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 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Arachidic acid |
|
506-30-9 |
|
|||
Heptadecanoic acid |
|
506-12-7 |
|
|||
Heptadecanoyl CoA |
|
3546-17-6 |
|
|||
N-Acetyl-L-aspartic acid |
|
997-55-7 |
|
|||
N-Formyl-L-aspartate |
|
|
Transcripts for ASPA Gene
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 :
CRISPR Products
-
OriGene CRISPR knockouts for ASPA
- genomics-online: gRNA clones - Search results for 113 available ASPA gene related products
- Overview of 113 available ASPA gene related products
- Applied Biological Materials CRISPR for ASPA
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ASPA
- GenScript: Design CRISPR guide RNA sequences for ASPA
miRNA Products
- Search ViGene Biosciences for ASPA
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ASPA
- Browse OriGene Inhibitory RNA Products For ASPA
- genomics-online: shRNA clones - Search results for 113 available ASPA gene related products
- Overview of 113 available ASPA gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for ASPA gene
Clone Products
- Sino Biological Human cDNA Clone for ASPA
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for ASPA
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ASPA
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for ASPA
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||
SP2: | - | ||||||||||||||||||
SP3: |
Expression for ASPA Gene
mRNA differential expression in normal tissues according to GTEx for ASPA Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ASPA Gene
NURSA nuclear receptor signaling pathways regulating expression of ASPA Gene:
ASPASOURCE GeneReport for Unigene cluster for ASPA Gene:
Hs.171142mRNA Expression by UniProt/SwissProt for ASPA Gene:
P45381-ACY2_HUMANEvidence 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
- ectoderm
- endoderm
- mesoderm
- cardiovascular
- nervous
- respiratory
- skeletal muscle
- skeleton
- brain
- cerebellum
- cranial nerve
- ear
- eye
- head
- mouth
- pharynx
- skull
- heart
- blood vessel
- peripheral nerve
- peripheral nervous system
- spinal cord
Primer Products
-
OriGene qPCR primer pairs and template standards for ASPA
-
OriGene qPCR primer pairs for ASPA
- genomics-online: primer clones - Search results for 113 available ASPA gene related products
- Overview of 113 available ASPA gene related products
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.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | ASPA 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | ASPA 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | ASPA 33 34 |
|
||
mouse (Mus musculus) |
Mammalia | Aspa 33 16 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Aspa 33 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | ASPA 34 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | ASPA 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | ASPA 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | ASPA 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | aspa 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | aspa 33 34 |
|
||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
Paralogs for ASPA Gene
(2) SIMAP similar genes for ASPA Gene using alignment to 4 proteins:
Variants 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 |
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 |
Additional Variant Information for ASPA Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASPA Gene
Disorders for ASPA Gene

(7) MalaCards diseases for ASPA Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
Disorder | Aliases | PubMed IDs |
---|---|---|
canavan disease |
|
|
mild canavan disease |
|
|
severe canavan disease |
|
|
myositis ossificans |
|
|
leukodystrophy |
|
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
No data available for Genatlas for ASPA Gene
Publications for ASPA Gene
- 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
- 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
- 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
- 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
- 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
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for ASPA
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for ASPA
- Search Origene for MassSpec and Protein Over-expression Lysates for ASPA
- Origene Custom Protein Services for ASPA
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ASPA
- Browse OriGene Inhibitory RNA Products For ASPA
- OriGene qPCR primer pairs and template standards for ASPA
- OriGene qPCR primer pairs for ASPA
- OriGene CRISPR knockouts for ASPA
- OriGene ORF clones in human for ASPA
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For ASPA
- GenScript: Next-day shipping of latest version cDNA ORF clones for ASPA in any vector
- GenScript Custom Purified and Recombinant Proteins Services for ASPA
- GenScript Custom Assay Services for ASPA
- GenScript Custom overexpressing Cell Line Services for ASPA
- GenScript: Design CRISPR guide RNA sequences for ASPA
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for ASPA
- Sino Biological Human cDNA Clone for ASPA
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
- Browse Sino Biological ELISA Pair Sets
- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for ASPA
- Novus Biologicals lysates and proteins for ASPA
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Abcam antibodies for ASPA
- Abcam proteins for ASPA
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- ProSpec Recombinant Proteins for ASPA
- Browse Antibodies at Cloud-Clone Corp.
- Browse Proteins at Cloud-Clone Corp.
- Browse Assay Kits at Cloud-Clone Corp.
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for ASPA
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Cyagen custom Knockout/knockin (KOKI) mouse models for ASPA
- VectorBuilder custom plasmid, inducible vectors for ASPA
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ASPA
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 75 available ASPA Antibodies ranked by validation data
- Compare Top ASPA Antibodies
- antibodies-online: Search results for 6 available ASPA Elisa Kits ranked by validation data
- Compare Top ASPA Elisa Kits
- antibodies-online: Search results for 14 available ASPA Proteins ranked by validation data
- Compare Top ASPA Proteins
- GeneTex ASPA antibody for ASPA
- GeneTex Proteins for ASPA
- ViGene Biosciences adenoviral particle packaged cDNA for ASPA gene
- ViGene Biosciences lentiviral particle packaged cDNA for ASPA gene
- ViGene Biosciences ready-to-package AAV shRNAs for ASPA gene
- Search ViGene Biosciences for ASPA
- Santa Cruz Biotechnology (SCBT) Antibodies for ASPA
- Search Santa Cruz Biotechnology (SCBT) for ASPA siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for ASPA
- Horizon Cell Lines for ASPA
- genomics-online: cdna clones - Search results for 113 available ASPA gene related products
- Overview of 113 available ASPA gene related products
- orf clones - Search results for 113 available ASPA gene related products
- Overview of 113 available ASPA gene related products
- genomics-online: gRNA clones - Search results for 113 available ASPA gene related products
- Overview of 113 available ASPA gene related products
- genomics-online: primer clones - Search results for 113 available ASPA gene related products
- Overview of 113 available ASPA gene related products
- genomics-online: shRNA clones - Search results for 113 available ASPA gene related products
- Overview of 113 available ASPA gene related products
Sources for ASPA Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew