About   Help   FAQ
Aars Gene Detail
Summary
  • Symbol
    Aars
  • Name
    alanyl-tRNA synthetase
  • Synonyms
    MGC:37368
  • Feature Type
    protein coding gene
  • IDs
    MGI:2384560
    NCBI Gene: 234734
Location & Maps
more
  • Sequence Map
    Chr8:111033144-111057664 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      24521 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 57.90 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    AARS, alanyl-tRNA synthetase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    AARS, alanyl-tRNA synthetase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CMT2N, EIEE29
  • Links
    NCBI Gene ID: 16
    neXtProt AC: NX_P49588

  • Chr Location
    16q22.1; chr16:70252295-70289550 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human AARS associations

Human Disease Mouse Models
       Charcot-Marie-Tooth Disease, Axonal, Type 2n; CMT2N   OMIM: 613287
Epileptic Encephalopathy, Early Infantile, 29; EIEE29   OMIM: 616339
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    27 phenotypes from 3 alleles in 3 genetic backgrounds
    2 images
    12 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    66
  • Gene trapped
    62
  • Spontaneous
    1
  • Targeted
    3
  • Incidental Mutations
Homozygotes for a spontaneous point mutation (A734E) exhibit a rough sticky coat, follicular dystrophy, patchy hair loss, progressive ataxia, and Purkinje cell degeneration. Homozygotes for a targeted point mutation (C723A) die by mid-gestation, while heterozygotes show mild Purkinje cell loss.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000031898 VEGA Gene Model | MGI Sequence Detail 24521 C57BL/6J ±  kb
transcript OTTMUST00000079077 VEGA | MGI Sequence Detail 5750 Not Applicable  
polypeptide OTTMUSP00000042139 VEGA | MGI Sequence Detail 968 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    201 from dbSNP Build 142
Protein
Information
less
  • UniProt
    6 Sequences
  • Protein Ontology
    PR:000003529 alanine--tRNA ligase, cytoplasmic
  • EC
  • InterPro Domains
    IPR002318 Alanine-tRNA ligase, class IIc
    IPR018162 Alanine-tRNA ligase, class IIc, anti-codon-binding domain
    IPR023033 Alanine-tRNA ligase, eukaryota/bacteria
    IPR018165 Alanyl-tRNA synthetase, class IIc, core domain
    IPR018164 Alanyl-tRNA synthetase, class IIc, N-terminal
    IPR003156 DHHA1 domain
    IPR018163 Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain
    IPR012947 Threonyl/alanyl tRNA synthetase, SAD
    IPR009000 Translation protein, beta-barrel domain
Molecular
Reagents
less
  • All nucleic 17
    cDNA 17

    Microarray probesets 3
Other
Accession IDs
less
MGI:1890634, MGI:2142499, MGI:2142843
References
more
  • Summaries
    All 43
    Developmental Gene Expression 2
    Gene Ontology 10
    Phenotypes 12
  • 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:220153 Liu Y, et al., Mutations in the Microtubule-Associated Protein 1A (Map1a) Gene Cause Purkinje Cell Degeneration. J Neurosci. 2015 Mar 18;35(11):4587-98

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
11/22/2016
MGI 6.06
The Jackson Laboratory