Seroatlas · Human Serome Atlas

ASPA

Aspartoacylase

Also known as: ACY2, ACY2_HUMAN, ASP

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P45381
Gene: ASPA
Ensembl: ENSG00000108381
Chromosome: 17
Canonical length: 313 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location: Cytosol
Quaternary structure: Homodimer

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

313 residues, UniProt reviewed canonical sequence.

>P45381|ASPA
     1  MTSCHIAEEH IQKVAIFGGT HGNELTGVFL VKHWLENGAE IQRTGLEVKP FITNPRAVKK
    61  CTRYIDCDLN RIFDLENLGK KMSEDLPYEV RRAQEINHLF GPKDSEDSYD IIFDLHNTTS
   121  NMGCTLILED SRNNFLIQMF HYIKTSLAPL PCYVYLIEHP SLKYATTRSI AKYPVGIEVG
   181  PQPQGVLRAD ILDQMRKMIK HALDFIHHFN EGKEFPPCAI EVYKIIEKVD YPRDENGEIA
   241  AIIHPNLQDQ DWKPLHPGDP MFLTLDGKTI PLGGDCTVYP VFVNEAAYYE KKEAFAKTTK
   301  LTLNAKSIRC CLH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ASPA can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.24
Highest tissue expression: 36 nTPM

Expression across tissuesHPA

Tissue

kidney: 36 nTPM
spinal cord: 30 nTPM
midbrain: 29 nTPM
hippocampal formation: 26 nTPM
basal ganglia: 20 nTPM
amygdala: 17 nTPM

Single-cell type

oligodendrocytes: 339 nCPM
proximal tubule cells: 178 nCPM
leydig cells: 113 nCPM
melanocytes: 104 nCPM
schwann cells: 96 nCPM
peritubular myoid cells: 85 nCPM

Immune cell

basophil: 1.1 nTPM
neutrophil: 0.7 nTPM
naive B-cell: 0.3 nTPM
naive CD8 T-cell: 0.3 nTPM
NK-cell: 0.3 nTPM
eosinophil: 0.2 nTPM

Brain region

white matter: 125 nTPM
basal ganglia: 82 nTPM
thalamus: 75 nTPM
midbrain: 61 nTPM
cerebral cortex: 57 nTPM
medulla oblongata: 51 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ASPA.

Disease | AllUniProt

Conditions ASPA is implicated in, by any mechanism.

Canavan disease (CAND) MIM:271900

Disease | GeneticClinVar

184 pathogenic / likely-pathogenic of 517 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Spongy degeneration of central nervous system
Canavan Disease, Familial Form
Inborn genetic diseases
ASPA-related disorder
Mild Canavan disease

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.1
gnomAD pLI: 0
gnomAD missense Z: 0.48
DepMap mean gene effect: 0.08
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

aspartate metabolic process
acetate metabolic process

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ASPA as an antibody target. Whether an autoantibody or antibody against ASPA could matter depends on whether native ASPA is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ASPA is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label ASPA as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...