Adsl adenylosuccinate lyase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Adslprovided by MGI
Official Full Name: adenylosuccinate lyaseprovided by MGI
Primary source: MGI:MGI:103202
See related: Ensembl:ENSMUSG00000022407 AllianceGenome:MGI:103202
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Adl; Asl
Summary: This gene encodes a protein that is involved in adenosine monophosphate (AMP) biosynthesis and maintaining AMP levels in the muscle. The encoded enzyme catalyzes the release of fumarate during AMP biosynthesis by cleaving the substrates succinylaminoimidazole carboxamide (SAICA) ribotide to give aminoimidazole carboxamide (AICA) ribotide, and adenylosuccinate to give adenylate. In humans, this gene is associated with adenylosuccinate deficiency, a rare autosomal disorder resulting in a spectrum of neurological symptoms. A pseudogene associated with this gene is located on the X chromosome. [provided by RefSeq, Jan 2013]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 11.1), limb E14.5 (RPKM 10.5) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 E1; 15 37.95 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (80832691..80855148)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (80948490..80970947)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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

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Variation

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Alleles

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

Endonuclease-mediated (2) 1 citation
Gene trapped (1)
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Adsl (e-PCR), detects polymorphism
- UniSTS:546635

Adsl (e-PCR), detects polymorphism
- UniSTS:506717

Atp5g1 (e-PCR), detects polymorphism
- UniSTS:498298

Adsl (e-PCR), detects polymorphism
- UniSTS:141044

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido) succinate lyase (fumarate-forming) activity	IBA Inferred from Biological aspect of Ancestor more info
enables (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido) succinate lyase (fumarate-forming) activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido) succinate lyase (fumarate-forming) activity	ISO Inferred from Sequence Orthology more info
enables N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	IBA Inferred from Biological aspect of Ancestor more info
enables N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	IDA Inferred from Direct Assay more info	PubMed
enables N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	ISA Inferred from Sequence Alignment more info	PubMed
enables N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	ISO Inferred from Sequence Orthology more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in 'de novo' AMP biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in 'de novo' AMP biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in 'de novo' AMP biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in 'de novo' AMP biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in 'de novo' IMP biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in 'de novo' IMP biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in 'de novo' XMP biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within AMP biosynthetic process	ISA Inferred from Sequence Alignment more info	PubMed
involved_in AMP biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in AMP salvage	IDA Inferred from Direct Assay more info	PubMed
involved_in AMP salvage	TAS Traceable Author Statement more info	PubMed
involved_in GMP biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in aerobic respiration	IEA Inferred from Electronic Annotation more info
involved_in aerobic respiration	ISO Inferred from Sequence Orthology more info
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to muscle activity	IEA Inferred from Electronic Annotation more info
involved_in response to nutrient	IEA Inferred from Electronic Annotation more info
involved_in response to nutrient	ISO Inferred from Sequence Orthology more info
involved_in response to starvation	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	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed
part_of protein-containing complex	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: adenylosuccinate lyase

Names: ASase; adenylosuccinase; adenylosuccinate lyase 1

NP_033764.2

EC 4.3.2.2

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.