Asl argininosuccinate lyase [Mus musculus (house mouse)] - Gene

Summary

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
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Genomic context

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_000071.7 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?

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.
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.
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.
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.
Enterocyte-derived ASL has a protective role in necrotizing enterocolitis.
Title: Argininosuccinate lyase in enterocytes protects from development of necrotizing enterocolitis.

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Variation

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Alleles

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

Targeted (3) 1 citation
Endonuclease-mediated (4)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ASL (e-PCR)
- UniSTS:509969

Asl (e-PCR), detects polymorphism
- UniSTS:506741

BB315002 (e-PCR)
- UniSTS:207266

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

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Preferred Names: argininosuccinate lyase

Names: arginosuccinase

NP_598529.1

EC 4.3.2.1

XP_006504404.1

EC 4.3.2.1

XP_036020620.1

EC 4.3.2.1

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_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

NC_000071.7 Reference GRCm39 C57BL/6J

Range

130040099..130053222 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)
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)