Aars1 alanyl-tRNA synthetase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Aars1provided by MGI
Official Full Name: alanyl-tRNA synthetase 1provided by MGI
Primary source: MGI:MGI:2384560
See related: Ensembl:ENSMUSG00000031960 AllianceGenome:MGI:2384560
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: sti; Aars
Summary: Enables Ser-tRNA(Ala) hydrolase activity and alanine-tRNA ligase activity. Involved in alanyl-tRNA aminoacylation; regulation of cytoplasmic translational fidelity; and tRNA modification. Acts upstream of or within cerebellar Purkinje cell layer development; negative regulation of neuron apoptotic process; and neuromuscular process controlling balance. Predicted to be located in cytosol. Predicted to be active in mitochondrion and nucleus. Is expressed in several structures, including adrenal gland; alimentary system; nervous system; respiratory system; and urinary system. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2N; developmental and epileptic encephalopathy 29; leukodystrophy; and trichothiodystrophy. Orthologous to human AARS1 (alanyl-tRNA synthetase 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in cerebellum adult (RPKM 31.7), liver adult (RPKM 27.0) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 E1; 8 57.9 cM

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (111759781..111784237)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (111027778..111055569)

Chromosome 8 - NC_000074.7 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?

Defects in aminoacyl-tRNA synthetase cause partial B and T cell immunodeficiency.
Title: Defects in aminoacyl-tRNA synthetase cause partial B and T cell immunodeficiency.
Methyltransferase-like 21C (METTL21C) methylates alanine tRNA synthetase at Lys-943 in muscle tissue.
Title: Methyltransferase-like 21C (METTL21C) methylates alanine tRNA synthetase at Lys-943 in muscle tissue.
results identify an amino-acid-accepting co-regulator of tRNA synthetase editing, ANKRD16, as a new layer of the machinery that is essential to the prevention of severe pathologies that arise from defects in editing
Title: ANKRD16 prevents neuron loss caused by an editing-defective tRNA synthetase.
the pathological consequences of diminished tRNA synthetase editing activity, and thus translational infidelity, are dependent on the cell type and the extent of editing disruption
Title: Deficiencies in tRNA synthetase editing activity cause cardioproteinopathy.
the mouse sticky mutation, which causes cerebellar Purkinje cell loss and ataxia, is a missense mutation in the editing domain of the alanyl-tRNA synthetase gene that compromises the proofreading activity of this enzyme during aminoacylation of tRNAs
Title: Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration.

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Variation

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Alleles

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

Endonuclease-mediated (3)
Spontaneous (1) 1 citation
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH66606 (e-PCR)
- UniSTS:19748

AI316495 (e-PCR)
- UniSTS:179820

RH126058 (e-PCR)
- UniSTS:162770

NoName (e-PCR)
- UniSTS:492285

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP binding	ISO Inferred from Sequence Orthology more info
enables Ser-tRNA(Ala) hydrolase activity	IDA Inferred from Direct Assay more info	PubMed
enables Ser-tRNA(Ala) hydrolase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables alanine-tRNA ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables alanine-tRNA ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables alanine-tRNA ligase activity	ISO Inferred from Sequence Orthology more info
enables amino acid binding	IEA Inferred from Electronic Annotation more info
enables amino acid binding	ISO Inferred from Sequence Orthology more info
enables aminoacyl-tRNA editing activity	IBA Inferred from Biological aspect of Ancestor more info
enables aminoacyl-tRNA editing activity	IDA Inferred from Direct Assay more info	PubMed
enables aminoacyl-tRNA editing activity	ISO Inferred from Sequence Orthology more info
enables peptide lactyltransferase (ATP-dependent) activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables tRNA binding	IEA Inferred from Electronic Annotation more info
enables tRNA binding	ISO Inferred from Sequence Orthology more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in alanyl-tRNA aminoacylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in alanyl-tRNA aminoacylation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within alanyl-tRNA aminoacylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in alanyl-tRNA aminoacylation	ISO Inferred from Sequence Orthology more info
involved_in aminoacyl-tRNA metabolism involved in translational fidelity	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cerebellar Purkinje cell layer development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of signal transduction by p53 class mediator	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within neuromuscular process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuromuscular process controlling balance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of hippo signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cytoplasmic translational fidelity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in tRNA modification	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within tRNA modification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in tRNA modification	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: alanine--tRNA ligase, cytoplasmic

Names: alaRS; alanyl-tRNA synthetase, cytoplasmic; protein lactyltransferase AARS1; protein sticky

NP_666329.2

EC 6.1.1.7

XP_006530985.1

EC 6.1.1.7

XP_006530987.1

EC 6.1.1.7

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.