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    ASPA aspartoacylase [ Homo sapiens (human) ]

    Gene ID: 443, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ASPAprovided by HGNC
    Official Full Name
    aspartoacylaseprovided by HGNC
    Primary source
    HGNC:HGNC:756
    See related
    Ensembl:ENSG00000108381 MIM:608034; AllianceGenome:HGNC:756
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ASP; ACY2
    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 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]
    Expression
    Broad expression in kidney (RPKM 9.3), brain (RPKM 5.6) and 19 other tissues See more
    Orthologs
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    Genomic context

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    See ASPA in Genome Data Viewer
    Location:
    17p13.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (3474110..3503405)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (3363013..3392307)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (3377404..3406699)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 3 subfamily A member 3 Neighboring gene olfactory receptor family 1 subfamily E member 2 Neighboring gene spermatogenesis associated 22 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:3386038-3386583 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:3413293-3413831 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3427509-3428008 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3430899-3431819 Neighboring gene transient receptor potential cation channel subfamily V member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8012 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3457379-3457880 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8013 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr17:3461306-3462122 and GRCh37_chr17:3462123-3462937 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11509 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11510 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:3466934-3467732 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:3478292-3479491 Neighboring gene transient receptor potential cation channel subfamily V member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3497604-3498104 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3512595-3513096 Neighboring gene sedoheptulokinase

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease. Olsen TR, et al. J Med Genet, 2002 Sep. PMID 12205125, Free PMC Article
    2. A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family. Hussain R, et al. Mol Biol Rep, 2012 May. PMID 22219087
    3. Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation. Cozzolino M, et al. Mol Genet Metab, 2011 Dec. PMID 22019069
    4. Canavan Disease. Adam MP, et al. , 1993. PMID 20301412
    5. Cellular and molecular mechanisms of aspartoacylase and its role in Canavan disease. Grønbæk-Thygesen M, et al. Cell Biosci, 2024 Apr 6. PMID 38582917, Free PMC Article

    See all (55) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Aspartoacylase promotes the process of tumour development and is associated with immune infiltrates in gastric cancer.
      Title: Aspartoacylase promotes the process of tumour development and is associated with immune infiltrates in gastric cancer.
    2. Mapping the degradation pathway of a disease-linked aspartoacylase variant.
      Title: Mapping the degradation pathway of a disease-linked aspartoacylase variant.
    3. Allosteric Control of N-Acetyl-Aspartate Hydrolysis by the Y231C and F295S Mutants of Human Aspartoacylase
      Title: Allosteric Control of N-Acetyl-Aspartate Hydrolysis by the Y231C and F295S Mutants of Human Aspartoacylase.
    4. In one case, the homozygous pathogenic variant NM_000049.2:c.914C>A;p.Ala305Glu, which is previously reported in ClinVar, in the gene ASPA was identified causing Canavan disease. In the second case, the homozygous novel variant NM_000487.5:c.256C>G;p.Arg86Gly in the gene ARSA was identified causing metachromatic leukodystrophy.
      Title: First Record Mutations in the Genes ASPA and ARSA Causing Leukodystrophy in Jordan.
    5. report of 2 Egyptian sibling patients suspected of Canavan disease (CD); study revealed homozygosity for substitution T530C (Ile177Thr) in exon 4 of the ASPA gene in both sibs; substitution T530C (Ile177Thr) results in a novel missense mutation causing a CD phenotype with severe clinical characteristics
      Title: New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion.
    6. Four ASPA missense mutations associated with Canavan disease are structurally characterized.
      Title: Aspartoacylase catalytic deficiency as the cause of Canavan disease: a structural perspective.
    7. Definitive evidence is presented to show that the recombinantly-expressed human aspartoacylase is not a glycoprotein.
      Title: Reexamination of aspartoacylase: is this human enzyme really a glycoprotein?
    8. This is the first case report of ASPA mutation studies in Canavan disease from Indian subcontinent.
      Title: Molecular characterisation and prenatal diagnosis of Asparto-acylase deficiency (Canavan disease)--report of two novel and two known mutations from the Indian subcontinent.
    9. a novel mutation Y88X within the aspartoacylase gene in a consanguineous family with an affected child diagnosed as Canavan disease.
      Title: A novel aspartoacylase (ASPA) gene mutation in Canavan disease.
    10. Human aspartoacylase gene expression was high not only in brain and kidney, but also in lung and liver.
      Title: Expression of aspartoacylase (ASPA) and Canavan disease.
    Submit: New GeneRIF Correction See all GeneRIFs (22)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Spongy degeneration of central nervous system
    MedGen: C0206307 OMIM: 271900 GeneReviews: Canavan Disease
    		not available

    EBI GWAS Catalog

    Description
    A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables aspartoacylase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables hydrolase activity, acting on ester bonds IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in acetate metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in aspartate metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in central nervous system myelination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of oligodendrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    aspartoacylase
    Names
    ACY-2
    aminoacylase 2
    cytosolic aspartoacylase
    NP_000040.1
    NP_001121557.1
    XP_016880150.1
    XP_054172172.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008399.3 RefSeqGene

      Range
      6889..34297
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000049.4 → NP_000040.1  aspartoacylase

      See identical proteins and their annotated locations for NP_000040.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) and variant 2 encode the same protein.
      Source sequence(s)
      AC025125
      Consensus CDS
      CCDS11028.1
      UniProtKB/Swiss-Prot
      P45381
      UniProtKB/TrEMBL
      Q6FH48
      Related
      ENSP00000263080.2, ENST00000263080.3
      Conserved Domains (1) summary
      cl11393
      Location:10 → 300
      Peptidase_M14_like; M14 family of metallocarboxypeptidases and related proteins

    2. NM_001128085.1 → NP_001121557.1  aspartoacylase

      See identical proteins and their annotated locations for NP_001121557.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 5' UTR and encodes the same protein, as compared to variant 1.
      Source sequence(s)
      AK312901, S67156
      Consensus CDS
      CCDS11028.1
      UniProtKB/Swiss-Prot
      P45381
      UniProtKB/TrEMBL
      Q6FH48
      Related
      ENSP00000409976.2, ENST00000456349.6
      Conserved Domains (1) summary
      cl11393
      Location:10 → 300
      Peptidase_M14_like; M14 family of metallocarboxypeptidases and related proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      3474110..3503405
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024661.2 → XP_016880150.1  aspartoacylase isoform X1

      UniProtKB/Swiss-Prot
      P45381
      UniProtKB/TrEMBL
      Q6FH48
      Conserved Domains (1) summary
      cl11393
      Location:10 → 300
      Peptidase_M14_like; M14 family of metallocarboxypeptidases and related proteins

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      3363013..3392307
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316197.1 → XP_054172172.1  aspartoacylase isoform X1

      UniProtKB/Swiss-Prot
      P45381
      UniProtKB/TrEMBL
      Q6FH48
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P45381.1 GenPept UniProtKB/Swiss-Prot:P45381

    Gene LinkOut

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