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    ASPA aspartoacylase [ Homo sapiens (human) ]

    Gene ID: 443, updated on 7-Jan-2024

    Summary

    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
    NEW
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    Genomic context

    See ASPA in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Spongy degeneration of central nervous system
    MedGen: C0206307 OMIM: 271900 GeneReviews: Canavan Disease
    Compare labs

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_000049.4NP_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:10300
      Peptidase_M14_like; M14 family of metallocarboxypeptidases and related proteins
    2. NM_001128085.1NP_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:10300
      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_017024661.2XP_016880150.1  aspartoacylase isoform X1

      UniProtKB/Swiss-Prot
      P45381
      UniProtKB/TrEMBL
      Q6FH48
      Conserved Domains (1) summary
      cl11393
      Location:10300
      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_054316197.1XP_054172172.1  aspartoacylase isoform X1

      UniProtKB/Swiss-Prot
      P45381
      UniProtKB/TrEMBL
      Q6FH48