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ASPA aspartoacylase [ Homo sapiens (human) ]

Gene ID: 443, updated on 5-Mar-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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Location:
17p13.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (3474110..3503405)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (3363013..3392307)
105.20220307 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: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Aspartoacylase promotes the process of tumour development and is associated with immune infiltrates in gastric cancer. Han Y, et al. BMC Cancer, 2023 Jun 30. PMID 37391709, Free PMC Article
  2. Mapping the degradation pathway of a disease-linked aspartoacylase variant. Gersing SK, et al. PLoS Genet, 2021 Apr. PMID 33914734, Free PMC Article
  3. Allosteric Control of N-Acetyl-Aspartate Hydrolysis by the Y231C and F295S Mutants of Human Aspartoacylase. Kots ED, et al. J Chem Inf Model, 2019 May 28. PMID 30431265
  4. Aspartoacylase catalytic deficiency as the cause of Canavan disease: a structural perspective. Wijayasinghe YS, et al. Biochemistry, 2014 Aug 5. PMID 25003821
  5. Reexamination of aspartoacylase: is this human enzyme really a glycoprotein? Wang Q, et al. Arch Biochem Biophys, 2014 Apr 15. PMID 24632142

See all (53) 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
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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)

Genotypes

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
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_2023_10

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

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