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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
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:111033144-111057664 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 57.90 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    201 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2384560
protein coding gene Chr8:111027827-111057664 (+)
129S1/SvImJ MGP_129S1SvImJ_G0034134
protein coding gene Chr8:113752543-113777050 (+)
A/J MGP_AJ_G0034113
protein coding gene Chr8:109146430-109171282 (+)
AKR/J MGP_AKRJ_G0034040
protein coding gene Chr8:112337890-112362410 (+)
BALB/cJ MGP_BALBcJ_G0034107
protein coding gene Chr8:109322585-109350330 (+)
C3H/HeJ MGP_C3HHeJ_G0033818
protein coding gene Chr8:113058478-113086299 (+)
C57BL/6NJ MGP_C57BL6NJ_G0034627
protein coding gene Chr8:117752189-117777906 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0031569
protein coding gene Chr8:102125458-102149563 (+)
CAST/EiJ MGP_CASTEiJ_G0033145
protein coding gene Chr8:112674988-112701502 (+)
CBA/J MGP_CBAJ_G0033792
protein coding gene Chr8:121758909-121785767 (+)
DBA/2J MGP_DBA2J_G0033947
protein coding gene Chr8:108435458-108459964 (+)
FVB/NJ MGP_FVBNJ_G0033891
protein coding gene Chr8:107395448-107420349 (+)
LP/J MGP_LPJ_G0034037
protein coding gene Chr8:113936398-113962943 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0033937
protein coding gene Chr8:124652313-124677438 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0034646
protein coding gene Chr8:112310217-112336104 (+)
PWK/PhJ MGP_PWKPhJ_G0032848
protein coding gene Chr8:108016734-108041835 (+)
SPRET/EiJ MGP_SPRETEiJ_G0032687
protein coding gene Chr8:110986143-111013873 (+)
WSB/EiJ MGP_WSBEiJ_G0033261
protein coding gene Chr8:112996347-113020862 (+)



Homology
more
  • Human Ortholog
    AARS1, alanyl-tRNA synthetase 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    AARS1, alanyl-tRNA synthetase 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AARS, 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
    2 with human AARS1 associations

Human Disease Mouse Models
      
IDs
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
    6 phenotypes from multigenic genotypes
    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 population 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
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000031960 Ensembl Gene Model | MGI Sequence Detail 24521 C57BL/6J ±  kb
    transcript ENSMUST00000034441 Ensembl | MGI Sequence Detail 5750 Not Applicable  
    polypeptide ENSMUSP00000034441 Ensembl | MGI Sequence Detail 968 Not Applicable  
    For the selected sequence
    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
    less
    • All nucleic 18
      cDNA 18

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1890634, MGI:2142499, MGI:2142843
    References
    more
    • Summaries
      All 45
      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 Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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    last database update
    10/01/2019
    MGI 6.14
    The Jackson Laboratory