Aars
Gene Detail

Symbol Name ID

Aars alanyl-tRNA synthetase MGI:2384560

Synonyms

MGC:37368

Feature Type

protein coding gene

Genetic Map

Chromosome 8

57.90 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

Chr8:111033144-111057664 bp, + strand From VEGA annotation of GRCm38   24521 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:1213  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: alanyl-tRNA ligase
Gene Tree: Aars

Human homologs

Human Homolog		AARS, alanyl-tRNA synthetase
NCBI Gene ID		16
neXtProt AC		NX_P49588
Human Synonyms		CMT2N
Human Chr (Location)		16q22; chr16:70286297-70323412 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human AARS

Alleles and phenotypes

All alleles(64) : Targeted(1) Gene trapped(62) Spontaneous(1)
 

Mice homozygous for a spontaneous point mutation have a rough, unkempt and sticky fur, display follicular dystrophy and patchy hair loss, develop tremors that progress to ataxia, and exhibit extensive loss of cerebellar Purkinje cells by 6 weeks of age.

 
Phenotype Images(2)

Gene Ontology (GO) classifications

All GO classifications: (30 annotations)

Process	alanyl-tRNA aminoacylation, cellular response to unfolded protein, ...
Component	cytoplasm
Function	alanine-tRNA ligase activity, amino acid binding, ...

External Resources: FuncBase

Expression

Literature Summary: (2 records)
Data Summary: Results (94)    Tissues (94)    Images (9)
Theiler Stages: 22

Assay Type	Results
RNA in situ	94

cDNA source data(14)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(17) cDNA(17)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000031898 (Evidence)
Ensembl Gene Model	ENSMUSG00000031960 (Evidence)
Entrez Gene	234734 (Evidence)
DFCI	TC1573789
EC	6.1.1.7
Consensus CDS Project	CCDS40478.1
International Mouse Knockout Project Status	Aars

Sequences

Length	Strain/Species
genomic	OTTMUSG00000031898	VEGA Gene Model | MGI Sequence Detail	24521	C57BL/6J
transcript	OTTMUST00000079077	VEGA | MGI Sequence Detail	5750	Not Applicable
polypeptide	OTTMUSP00000042139	VEGA | MGI Sequence Detail	968	Not Applicable

All sequences(80) RefSeq(2) UniProt(6)

Polymorphisms

SNPs(131 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR002318	Alanine-tRNA ligase, class IIc
InterPro	IPR018162	Alanine-tRNA ligase, class IIc, anti-codon-binding domain
InterPro	IPR023033	Alanine-tRNA ligase, eukaryota/bacteria
InterPro	IPR018165	Alanyl-tRNA synthetase, class IIc, core domain
InterPro	IPR018164	Alanyl-tRNA synthetase, class IIc, N-terminal
InterPro	IPR003156	Phosphoesterase, DHHA1
InterPro	IPR018163	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain
InterPro	IPR012947	Threonyl/alanyl tRNA synthetase, SAD
Protein Ontology	PR:000003529	alanyl-tRNA synthetase, cytoplasmic

References

(Earliest) J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
(Latest) J:177943 Sarna JR, et al., Patterned Purkinje cell loss in the ataxic sticky mouse. Eur J Neurosci. 2011 Jul;34(1):79-86
All references(41)

Other accession IDs

MGI:1890634, MGI:2142499, MGI:2142843