About   Help   FAQ
Iars1 Gene Detail
Summary
  • Symbol
    Iars1
  • Name
    isoleucyl-tRNA synthetase 1
  • Synonyms
    2510016L12Rik, E430001P04Rik, Iars
  • Feature Type
    protein coding gene
  • IDs
    MGI:2145219
    NCBI Gene: 105148
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:49835606-49887743 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 25.38 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1596 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2145219
 protein coding gene Chr13:49835576-49887743 (+)
129S1/SvImJ MGP_129S1SvImJ_G0020542
 protein coding gene Chr13:48665372-48712692 (+)
A/J MGP_AJ_G0020496
 protein coding gene Chr13:46953131-46999923 (+)
AKR/J MGP_AKRJ_G0020473
 protein coding gene Chr13:48271199-48317565 (+)
BALB/cJ MGP_BALBcJ_G0020492
 protein coding gene Chr13:47154806-47201137 (+)
C3H/HeJ MGP_C3HHeJ_G0020291
 protein coding gene Chr13:48090158-48137837 (+)
C57BL/6NJ MGP_C57BL6NJ_G0020925
 protein coding gene Chr13:50136972-50186422 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0018510
 protein coding gene Chr13:44900479-44948441 (+)
CAST/EiJ MGP_CASTEiJ_G0019806
 protein coding gene Chr13:48105956-48154782 (+)
CBA/J MGP_CBAJ_G0020252
 protein coding gene Chr13:52205768-52255431 (+)
DBA/2J MGP_DBA2J_G0020374
 protein coding gene Chr13:46463502-46517827 (+)
FVB/NJ MGP_FVBNJ_G0020353
 protein coding gene Chr13:45991233-46042708 (+)
LP/J MGP_LPJ_G0020449
 protein coding gene Chr13:48885735-48933058 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0020382
 protein coding gene Chr13:51912925-51969572 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0020968
 protein coding gene Chr13:47954427-48008312 (+)
PWK/PhJ MGP_PWKPhJ_G0019562
 protein coding gene Chr13:46648409-46695705 (+)
SPRET/EiJ MGP_SPRETEiJ_G0019390
 protein coding gene Chr13:46663909-46714758 (+)
WSB/EiJ MGP_WSBEiJ_G0019868
 protein coding gene Chr13:48284369-48331249 (+)



Homology
more
  • Human Ortholog
    IARS1, isoleucyl-tRNA synthetase 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    IARS1, isoleucyl-tRNA synthetase 1
  • Synonyms
    GRIDHH, IARS, ILERS, ILRS, IRS, PRO0785
  • Links
    NCBI Gene ID: 3376
    neXtProt AC: NX_P41252
    UniProt: P41252

  • Chr Location
    9q22.31; chr9:92210207-92293854 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    5 phenotypes from 1 allele in 1 genetic background
    11 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.
Homozygosity for the p.V79L mutation leads to reduced body weight and fatty liver.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    21
  • GO References
    9
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    979
  • Tissues
    123
  • cDNA Data
    358
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 105148 NCBI Gene Model | MGI Sequence Detail 52138 C57BL/6J ±  kb
    transcript NM_172015 RefSeq | MGI Sequence Detail 4396 C57BL/6  
    polypeptide Q8BU30 UniProt | EBI | MGI Sequence Detail 1262 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000008876 isoleucine--tRNA ligase, cytoplasmic
      (term hierarchy)
    • EC
      6.1.1.5
    • InterPro Domains
      IPR002300 Aminoacyl-tRNA synthetase, class Ia
      IPR009080 Aminoacyl-tRNA synthetase, class Ia, anticodon-binding
      IPR001412 Aminoacyl-tRNA synthetase, class I, conserved site
      IPR002301 Isoleucine-tRNA ligase
      IPR023586 Isoleucine-tRNA ligase, type 2
      IPR033709 Isoleucyl tRNA synthetase type 2, anticodon-binding domain
      IPR013155 Methionyl/Valyl/Leucyl/Isoleucyl-tRNA synthetase, anticodon-binding
      IPR014729 Rossmann-like alpha/beta/alpha sandwich fold
      IPR009008 Valyl/Leucyl/Isoleucyl-tRNA synthetase, editing domain
    • GlyGen
      Q8BU30 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 359
      cDNA 359

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1917556, MGI:2145377, MGI:7482294
    References
    more
    • Summaries
      All 45
      Developmental Gene Expression 3
      Gene Ontology 9
      Phenotypes 11
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:340986 Watanabe M, et al., Molecular and Pathological Analyses of IARS1-Deficient Mice: An IARS Disorder Model. Int J Mol Sci. 2023 Apr 9;24(8)
    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)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    10/22/2024
    MGI 6.24     		The Jackson Laboratory