Aspa aspartoacylase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Aspaprovided by MGI
Official Full Name: aspartoacylaseprovided by MGI
Primary source: MGI:MGI:87914
See related: Ensembl:ENSMUSG00000020774 AllianceGenome:MGI:87914
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Acy2; nur7; Acy-2
Summary: This gene encodes an enzyme that deacteylates N-acetyl-L-aspartic acid (NAA) in the brain to yield acetate and L-aspartate. In humans, alterations in neuronal NAA concentration are associated with many neurodegenerative diseases (decrease associated with epilepsy, multiple sclerosis, myotrophic lateral sclerosis, and Alzheimer's disease; increase associated with Canavan disease). In mouse, mutations in this gene, which cause accumulation of NAA, result in demyelination and spongy degeneration in the CNS and serve as a pathophysiological model for Canavan disease. [provided by RefSeq, Dec 2012]
Expression: Broad expression in large intestine adult (RPKM 9.3), cerebellum adult (RPKM 9.1) and 16 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 B4; 11 45.28 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (73195813..73217677, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (73304987..73326876, complement)

Chromosome 11 - NC_000077.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Aspartoacylase suppresses prostate cancer progression by blocking LYN activation.
Title: Aspartoacylase suppresses prostate cancer progression by blocking LYN activation.
This study demonstrated that N-acetylaspartate supports the energetic demands of developmental myelination via oligodendroglial aspartoacylase.
Title: N-acetylaspartate supports the energetic demands of developmental myelination via oligodendroglial aspartoacylase.
Gata6 regulates differentiation, metabolism, and survival of resident peritoneal macrophages through aspartoacylase.
Title: Gata6 regulates aspartoacylase expression in resident peritoneal macrophages and controls their survival.
aspartoacylase is proposed here to support lipid synthesis and energy metabolism via the provision of substrate for both cellular processes during early postnatal development
Title: Aspartoacylase supports oxidative energy metabolism during myelination.
Intracellular vacuolisation in astrocytes coincides with axonal swellings in cerebellum and brain stem of aspa(lacZ/lacZ) mutants indicating that astroglia may act as an osmolyte buffer in the aspa-deficient CNS
Title: Aspartoacylase-lacZ knockin mice: an engineered model of Canavan disease.
Aspa defects were associated with increased levels of acetylated histone H3, decreased chromatin compaction and increased GFAP protein, a marker for astrogliosis. Early in postnatal development ASPA defic affects oligodendrocyte maturation and myelination
Title: Aspartoacylase deficiency affects early postnatal development of oligodendrocytes and myelination.
Death of OLs, neurons, and astrocytes was identified in every region of the aspartoacylase KO brain. These findings support involvement of ASPA in CNS development and function.
Title: Lack of aspartoacylase activity disrupts survival and differentiation of neural progenitors and oligodendrocytes in a mouse model of Canavan disease.
Nur7( Q193X) is a nonsense mutation in the mouse aspartoacylase gene that causes spongy degeneration of the CNS.
Title: Nur7 is a nonsense mutation in the mouse aspartoacylase gene that causes spongy degeneration of the CNS.
we now present immunoblot, proteomic, and biochemical evidence that the membrane-bound form of ASPA is intrinsic to purified myelin membranes.
Title: Bimodal occurrence of aspartoacylase in myelin and cytosol of brain.
ASPA gene defect in the mouse leads to spinal cord pathology; these changes may be involved in the cause of the physiological/behavioral abnormalities seen in the knockout mouse.
Title: Aspartoacylase gene knockout results in severe vacuolation in the white matter and gray matter of the spinal cord in the mouse.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (4) 1 citation
Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (5)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables aminoacylase activity	TAS Traceable Author Statement more info	PubMed
enables aspartoacylase activity	IDA Inferred from Direct Assay more info	PubMed
enables aspartoacylase activity	ISO Inferred from Sequence Orthology more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
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	ISO Inferred from Sequence Orthology more info
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	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within acetate metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in aspartate metabolic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of oligodendrocyte differentiation	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: aspartoacylase

Names: aminoacylase-2; aspartoacylase (aminoacylase) 2

NP_001404193.1

EC 3.5.1.15

NP_001404194.1

EC 3.5.1.15

NP_001404195.1

EC 3.5.1.15

NP_001404196.1

EC 3.5.1.15

NP_075602.2

EC 3.5.1.15

XP_006532076.2

EC 3.5.1.15

XP_011246975.1

EC 3.5.1.15

XP_036012133.1

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.

mRNA and Protein(s)

NM_001417264.1 → NP_001404193.1 aspartoacylase isoform 1

Status: VALIDATED

Source sequence(s)

AL645739

UniProtKB/Swiss-Prot

Q5SV07, Q8R3P0, Q9D876, Q9DCE2, Q9JIN8
NM_001417265.1 → NP_001404194.1 aspartoacylase isoform 2

Status: VALIDATED

Source sequence(s)

AL645739
NM_001417266.1 → NP_001404195.1 aspartoacylase isoform 1

Status: VALIDATED

Source sequence(s)

AL645739

UniProtKB/Swiss-Prot

Q5SV07, Q8R3P0, Q9D876, Q9DCE2, Q9JIN8
NM_001417267.1 → NP_001404196.1 aspartoacylase isoform 1

Status: VALIDATED

Source sequence(s)

AL645739

UniProtKB/Swiss-Prot

Q5SV07, Q8R3P0, Q9D876, Q9DCE2, Q9JIN8
NM_023113.6 → NP_075602.2 aspartoacylase isoform 1

See identical proteins and their annotated locations for NP_075602.2

Status: VALIDATED

Source sequence(s)

AL645739

Consensus CDS

CCDS25005.1

UniProtKB/Swiss-Prot

Q5SV07, Q8R3P0, Q9D876, Q9DCE2, Q9JIN8

Related

ENSMUSP00000021119.3, ENSMUST00000021119.9

Conserved Domains (1) summary

cl11393
Location:10 → 299

Peptidase_M14_like; M14 family of metallocarboxypeptidases and related proteins

RNA

NR_184438.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL645739
NR_184439.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL645739
NR_184440.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL645739

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

73195813..73217677 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006532013.5 → XP_006532076.2 aspartoacylase isoform X2

Conserved Domains (1) summary

cl11393
Location:10 → 263

Peptidase_M14_like; M14 family of metallocarboxypeptidases and related proteins
XM_036156240.1 → XP_036012133.1 aspartoacylase isoform X3

Conserved Domains (1) summary

cl11393
Location:12 → 231

Peptidase_M14_like; M14 family of metallocarboxypeptidases and related proteins
XM_011248673.4 → XP_011246975.1 aspartoacylase isoform X4

UniProtKB/TrEMBL

B0QZP3

Related

ENSMUSP00000139131.2, ENSMUST00000155630.9

Conserved Domains (1) summary

cd06909
Location:11 → 175

M14_ASPA; Peptidase M14 Aspartoacylase (ASPA) subfamily