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Aars Gene Detail
Summary
  • Symbol
    Aars
  • Name
    alanyl-tRNA synthetase
  • Synonyms
    MGC:37368
  • Feature Type
    protein coding gene
  • IDs
    MGI:2384560
    NCBI Gene: 234734
  • Alliance
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
    UniProt: P49588

  • Chr Location
    16q22.1; chr16:70252295-70289552 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human AARS associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    27 phenotypes from 3 alleles in 3 genetic backgrounds
    2 images
    13 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
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  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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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
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    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
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    • SNPs within 2kb
      201 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      7 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 superfamily
      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 superfamily
      IPR012947 Threonyl/alanyl tRNA synthetase, SAD
      IPR009000 Translation protein, beta-barrel domain superfamily
    Molecular
    Reagents
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    • All nucleic 18
      cDNA 18

      Microarray probesets 3
    Other
    Accession IDs
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    MGI:1890634, MGI:2142499, MGI:2142843
    References
    more
    • Summaries
      All 46
      Developmental Gene Expression 2
      Gene Ontology 11
      Phenotypes 13
    • 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:262421 Vo MN, et al., ANKRD16 prevents neuron loss caused by an editing-defective tRNA synthetase. Nature. 2018 May;557(7706):510-515

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    07/31/2018
    MGI 6.12
    The Jackson Laboratory