ASPA aspartoacylase [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Mapping the degradation pathway of a disease-linked aspartoacylase variant.
Title: Mapping the degradation pathway of a disease-linked aspartoacylase variant.
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.
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.
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.
Four ASPA missense mutations associated with Canavan disease are structurally characterized.
Title: Aspartoacylase catalytic deficiency as the cause of Canavan disease: a structural perspective.
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?
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.
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.
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	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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH123093 (e-PCR)
- UniSTS:135473

D17S2054 (e-PCR)
- UniSTS:5686

STS-H83906 (e-PCR)
- UniSTS:75851

GDB:375371 (e-PCR)
- UniSTS:157023

RH17906 (e-PCR)
- UniSTS:31888

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

EC 3.5.1.15

NP_001121557.1

EC 3.5.1.15

XP_016880150.1

EC 3.5.1.15

XP_054172172.1

EC 3.5.1.15

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

NG_008399.3 RefSeqGene

Range

6889..34297

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

3474110..3503405

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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