U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Asl argininosuccinate lyase [ Mus musculus (house mouse) ]

Gene ID: 109900, updated on 21-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
Aslprovided by MGI
Official Full Name
argininosuccinate lyaseprovided by MGI
Primary source
MGI:MGI:88084
See related
Ensembl:ENSMUSG00000025533 AllianceGenome:MGI:88084
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
ASAL; 2510006M18Rik
Summary
Predicted to enable argininosuccinate lyase activity and identical protein binding activity. Acts upstream of or within ammonia assimilation cycle; locomotory behavior; and post-embryonic development. Predicted to be located in several cellular components, including cell body fiber; mitochondrial outer membrane; and perikaryon. Predicted to be active in cytosol. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Used to study argininosuccinic aciduria. Human ortholog(s) of this gene implicated in amino acid metabolic disorder and argininosuccinic aciduria. Orthologous to human ASL (argininosuccinate lyase). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in liver adult (RPKM 129.2), kidney adult (RPKM 88.2) and 11 other tissues See more
Orthologs
human all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
5 G1.3; 5 68.37 cM
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (130040099..130053222, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (130011258..130024381, complement)

Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_14464 Neighboring gene nuclear protein transcriptional regulator 2 Neighboring gene STARR-positive B cell enhancer ABC_E1308 Neighboring gene vitamin K epoxide reductase complex, subunit 1-like 1 Neighboring gene STARR-seq mESC enhancer starr_14467 Neighboring gene STARR-seq mESC enhancer starr_14468 Neighboring gene glucuronidase, beta Neighboring gene STARR-positive B cell enhancer ABC_E10355 Neighboring gene predicted gene, 40334 Neighboring gene calcitonin gene-related peptide-receptor component protein

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Cutting Edge: l-Arginine Transfer from Antigen-Presenting Cells Sustains CD4(+) T Cell Viability and Proliferation. Crowther RR, et al. J Immunol, 2022 Feb 15. PMID 35101895, Free PMC Article
  2. Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency. Burrage LC, et al. JCI Insight, 2020 Feb 27. PMID 31990680, Free PMC Article
  3. Adeno-associated viral gene therapy corrects a mouse model of argininosuccinic aciduria. Ashley SN, et al. Mol Genet Metab, 2018 Nov. PMID 30253962
  4. Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer. Baruteau J, et al. Nat Commun, 2018 Aug 29. PMID 30158522, Free PMC Article
  5. Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension. Kho J, et al. Am J Hum Genet, 2018 Aug 2. PMID 30075114, Free PMC Article

See all (48) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Nitric oxide is required for lung alveolarization revealed by deficiency of argininosuccinate lyase.
    Title: Nitric oxide is required for lung alveolarization revealed by deficiency of argininosuccinate lyase.
  2. Argininosuccinate lyase deficiency causes blood-brain barrier disruption via nitric oxide-mediated dysregulation of claudin expression.
    Title: Argininosuccinate lyase deficiency causes blood-brain barrier disruption via nitric oxide-mediated dysregulation of claudin expression.
  3. Mechanistically, KLF7 transcriptionally activated argininosuccinate lyase (ASL), which was observed highly expressed in glioma tissues. KLF7 accelerates the xenografted tumor growth of glioma cells. KLF7 potentiates polyamine biosynthesis and glioma cell growth via transcriptionally activates ASL.
    Title: KLF7 promotes polyamine biosynthesis and glioma development through transcriptionally activating ASL.
  4. We designed a codon-optimized human ASL gene packaged within adeno-associated virus serotype 8 (AAV8) as a vector for targeted delivery to the liver. To evaluate the therapeutic efficacy of this approach, we utilized a murine hypomorphic model of ASA. Neonatal administration of AAV8 via the temporal facial vein extended survival in ASA hypomorphic mice, although not to wild-type levels.
    Title: Adeno-associated viral gene therapy corrects a mouse model of argininosuccinic aciduria.
  5. Enterocyte-derived ASL has a protective role in necrotizing enterocolitis.
    Title: Argininosuccinate lyase in enterocytes protects from development of necrotizing enterocolitis.
Submit: New GeneRIF Correction

Variation

Go to the top of the page Help

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (3)  1 citation
  • Endonuclease-mediated (4) 

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables argininosuccinate lyase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables argininosuccinate lyase activity ISO
Inferred from Sequence Orthology
more info
  
enables catalytic activity IEA
Inferred from Electronic Annotation
more info
  
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
  
enables lyase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within amino acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within amino acid metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within ammonia assimilation cycle IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in arginine biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in arginine biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
involved_in arginine biosynthetic process via ornithine IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in arginine metabolic process ISO
Inferred from Sequence Orthology
more info
  
involved_in argininosuccinate metabolic process ISO
Inferred from Sequence Orthology
more info
  
involved_in liver development ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within locomotory behavior IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of nitric oxide biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of nitric oxide biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within post-embryonic development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in urea cycle ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in cell body fiber ISO
Inferred from Sequence Orthology
more info
  
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrial outer membrane ISO
Inferred from Sequence Orthology
more info
  
located_in neuronal cell body ISO
Inferred from Sequence Orthology
more info
  
located_in perikaryon ISO
Inferred from Sequence Orthology
more info
  
located_in perinuclear region of cytoplasm ISO
Inferred from Sequence Orthology
more info
  

General protein information

Go to the top of the page Help
Preferred Names
argininosuccinate lyase
Names
arginosuccinase
NP_598529.1
XP_006504404.1
XP_036020620.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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.

mRNA and Protein(s)

  1. NM_133768.5 → NP_598529.1  argininosuccinate lyase

    See identical proteins and their annotated locations for NP_598529.1

    Status: VALIDATED

    Source sequence(s)
    AI325988, AK140160, BY770404
    Consensus CDS
    CCDS51655.1
    UniProtKB/Swiss-Prot
    Q3UFA2, Q91YI0
    UniProtKB/TrEMBL
    Q3UUH0
    Related
    ENSMUSP00000124274.2, ENSMUST00000161094.8
    Conserved Domains (1) summary
    cd01359
    Location:27 → 459
    Argininosuccinate_lyase; Argininosuccinate lyase (argininosuccinase, ASAL)

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

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    130040099..130053222 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036164727.1 → XP_036020620.1  argininosuccinate lyase isoform X2

    UniProtKB/TrEMBL
    F7D439
    Related
    ENSMUSP00000125143.3, ENSMUST00000159096.8
    Conserved Domains (1) summary
    cd01359
    Location:1 → 230
    Argininosuccinate_lyase; Argininosuccinate lyase (argininosuccinase, ASAL)

  2. XM_006504341.5 → XP_006504404.1  argininosuccinate lyase isoform X1

    See identical proteins and their annotated locations for XP_006504404.1

    UniProtKB/Swiss-Prot
    Q3UFA2, Q91YI0
    UniProtKB/TrEMBL
    Q3UUH0
    Related
    ENSMUSP00000124579.2, ENSMUST00000160129.8
    Conserved Domains (1) summary
    cd01359
    Location:27 → 459
    Argininosuccinate_lyase; Argininosuccinate lyase (argininosuccinase, ASAL)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q91YI0.1 GenPept UniProtKB/Swiss-Prot:Q91YI0

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous