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ASPA aspartoacylase [ Homo sapiens (human) ]

Gene ID: 443, updated on 8-Jul-2018
Official Symbol
ASPAprovided by HGNC
Official Full Name
aspartoacylaseprovided by HGNC
Primary source
HGNC:HGNC:756
See related
Ensembl:ENSG00000108381 MIM:608034; Vega:OTTHUMG00000090655
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
See ASPA in Genome Data Viewer
Location:
17p13.2
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (3473646..3502534)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (3377404..3402700)

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 transient receptor potential cation channel subfamily V member 3 Neighboring gene transient receptor potential cation channel subfamily V member 1 Neighboring gene sedoheptulokinase

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Spongy degeneration of central nervous system
MedGen: C0206307 OMIM: 271900 GeneReviews: Canavan Disease
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NHGRI 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.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
aminoacylase activity TAS
Traceable Author Statement
more info
PubMed 
aspartoacylase activity TAS
Traceable Author Statement
more info
 
hydrolase activity, acting on ester bonds IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
aspartate catabolic process TAS
Traceable Author Statement
more info
PubMed 
cellular amino acid biosynthetic process TAS
Traceable Author Statement
more info
 
central nervous system myelination IEA
Inferred from Electronic Annotation
more info
 
positive regulation of oligodendrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
aspartoacylase
Names
ACY-2
aminoacylase 2
NP_000040.1
NP_001121557.1
XP_016880150.1
XP_024306532.1

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_008399.1 RefSeqGene

    Range
    5001..30297
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000049.2NP_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)
    BC029128, S67156
    Consensus CDS
    CCDS11028.1
    UniProtKB/Swiss-Prot
    P45381
    UniProtKB/TrEMBL
    Q6FH48
    Related
    ENSP00000263080.2, OTTHUMP00000115814, ENST00000263080.2, OTTHUMT00000207315
    Conserved Domains (1) summary
    cd06909
    Location:12300
    M14_ASPA; Peptidase M14 Aspartoacylase (ASPA) subfamily
  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, OTTHUMP00000257330, ENST00000456349.6, OTTHUMT00000438241
    Conserved Domains (1) summary
    cd06909
    Location:12300
    M14_ASPA; Peptidase M14 Aspartoacylase (ASPA) subfamily

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    3473646..3502534
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450764.1XP_024306532.1  aspartoacylase isoform X1

    Conserved Domains (1) summary
    cd06909
    Location:12300
    M14_ASPA; Peptidase M14 Aspartoacylase (ASPA) subfamily
  2. XM_017024661.1XP_016880150.1  aspartoacylase isoform X1

    UniProtKB/Swiss-Prot
    P45381
    UniProtKB/TrEMBL
    Q6FH48
    Conserved Domains (1) summary
    cd06909
    Location:12300
    M14_ASPA; Peptidase M14 Aspartoacylase (ASPA) subfamily

RNA

  1. XR_934026.2 RNA Sequence

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