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Aars1 Gene Detail
Summary
  • Symbol
    Aars1
  • Name
    alanyl-tRNA synthetase 1
  • Synonyms
    Aars, MGC:37368
  • Feature Type
    protein coding gene
  • IDs
    MGI:2384560
    NCBI Gene: 234734
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:111759781-111784237 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 57.90 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    753 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 Chr8:111759776-111784296 (+)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AARS1, alanyl-tRNA synthetase 1
  • Synonyms
    AARS, CMT2N, DEE29, EIEE29, HDLS2, TTD8
  • Links
    NCBI Gene ID: 16
    neXtProt AC: NX_P49588
    UniProt: P49588

  • Chr Location
    16q22.1; chr16:70251983-70289707 (-)  GRCh38
Human Diseases
more
  • Diseases
    4 with human AARS1 associations

Human Disease Mouse Models
      
IDs
IDs
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
    16 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.
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
    41
  • GO References
    13
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    805
  • Tissues
    96
  • cDNA Data
    16
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 234734 NCBI Gene Model | MGI Sequence Detail 24457 C57BL/6J ±  kb
    transcript NM_146217 RefSeq | MGI Sequence Detail 3728 C57BL/6  
    polypeptide Q8BGQ7 UniProt | EBI | MGI Sequence Detail 968 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      7 Sequences
    • Protein Ontology
      PR:000003529 alanine--tRNA ligase, cytoplasmic
      (term hierarchy)
    • EC
      6.-.-.-, 6.1.1.7
    • InterPro Domains
      IPR050058 Alanine--tRNA ligase
      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
      IPR045864 Class II Aminoacyl-tRNA synthetase/Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL)
      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
    • GlyGen
      Q8BGQ7 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 21
      cDNA 19
      Primer pair 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1890634, MGI:2142499, MGI:2142843, MGI:7484196
    References
    more
    • Summaries
      All 55
      Developmental Gene Expression 5
      Gene Ontology 13
      Phenotypes 16
    • 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:338182 Gehlen-Breitbach S, et al., The Tip60/Ep400 chromatin remodeling complex impacts basic cellular functions in cranial neural crest-derived tissue during early orofacial development. Int J Oral Sci. 2023 Apr 6;15(1):16
    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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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/05/2024
    MGI 6.24     		The Jackson Laboratory