About   Help   FAQ
Kars1 Gene Detail
Summary
  • Symbol
    Kars1
  • Name
    lysyl-tRNA synthetase 1
  • Synonyms
    D8Ertd698e, D8Wsu108e, Kars, LysRS, mKIAA0070
  • Feature Type
    protein coding gene
  • IDs
    MGI:1934754
    NCBI Gene: 85305
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:112720075-112737955 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 58.27 cM, cytoband D3
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    761 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1934754
 protein coding gene Chr8:112720071-112737986 (-)
129S1/SvImJ MGP_129S1SvImJ_G0034152
 protein coding gene Chr8:114834234-114852175 (-)
A/J MGP_AJ_G0034132
 protein coding gene Chr8:110145013-110163491 (-)
AKR/J MGP_AKRJ_G0034059
 protein coding gene Chr8:113390814-113411017 (-)
BALB/cJ MGP_BALBcJ_G0034126
 protein coding gene Chr8:110323210-110340839 (-)
C3H/HeJ MGP_C3HHeJ_G0033837
 protein coding gene Chr8:114096676-114115471 (-)
C57BL/6NJ MGP_C57BL6NJ_G0034646
 protein coding gene Chr8:118843291-118861588 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031588
 protein coding gene Chr8:103215072-103234154 (-)
CAST/EiJ MGP_CASTEiJ_G0033164
 protein coding gene Chr8:113744032-113761601 (-)
CBA/J MGP_CBAJ_G0033810
 protein coding gene Chr8:122942066-122960394 (-)
DBA/2J MGP_DBA2J_G0033966
 protein coding gene Chr8:109417254-109435623 (-)
FVB/NJ MGP_FVBNJ_G0033909
 protein coding gene Chr8:108400143-108419124 (-)
LP/J MGP_LPJ_G0034055
 protein coding gene Chr8:114986333-115004116 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033956
 protein coding gene Chr8:125769744-125790501 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034664
 protein coding gene Chr8:113377782-113395515 (-)
PWK/PhJ MGP_PWKPhJ_G0032866
 protein coding gene Chr8:109029857-109048491 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032706
 protein coding gene Chr8:112031068-112048206 (-)
WSB/EiJ MGP_WSBEiJ_G0033280
 protein coding gene Chr8:114060628-114086161 (-)



Homology
more
  • Human Ortholog
    KARS1, lysyl-tRNA synthetase 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KARS1, lysyl-tRNA synthetase 1
  • Synonyms
    CMTRIB, DEAPLE, DFNB89, KARS, KARS2, KRS, LEPID
  • Links
    NCBI Gene ID: 3735
    neXtProt AC: NX_Q15046
    UniProt: Q15046

  • Chr Location
    16q23.1; chr16:75627474-75648643 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with human KARS1 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    4 phenotypes from 2 alleles in 2 genetic backgrounds
    1 phenotype from multigenic genotypes
    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.
Mice homozygous for a knock-out allele exhibit complete embryonic lethality prior to organogenesis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    53
  • 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
membraneless 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
    845
  • Tissues
    116
  • cDNA Data
    16
  • Literature Summary
    6
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000031948 Ensembl Gene Model | MGI Sequence Detail 17881 C57BL/6J ±  kb
transcript ENSMUST00000093120 Ensembl | MGI Sequence Detail 2131 Not Applicable  
polypeptide ENSMUSP00000090808 Ensembl | MGI Sequence Detail 624 Not Applicable  
For the selected sequence
Protein
Information
less
  • UniProt
    7 Sequences
  • Protein Ontology
    PR:000009241 eukaryotic-type lysine--tRNA ligase
    (term hierarchy)
  • EC
    2.7.7.-, 6.1.1.6
  • InterPro Domains
    IPR006195 Aminoacyl-tRNA synthetase, class II
    IPR004364 Aminoacyl-tRNA synthetase, class II (D/K/N)
    IPR034762 Bacterial/eukaryotic lysine-tRNA ligase, class II
    IPR045864 Class II Aminoacyl-tRNA synthetase/Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL)
    IPR002313 Lysine-tRNA ligase, class II
    IPR044136 Lysine-tRNA ligase, class II, N-terminal
    IPR018149 Lysyl-tRNA synthetase, class II, C-terminal
    IPR012340 Nucleic acid-binding, OB-fold
    IPR004365 OB-fold nucleic acid binding domain, AA-tRNA synthetase-type
  • GlyGen
    Q99MN1 1 site, 1 O-linked glycan (1 site)
Molecular
Reagents
less
  • All nucleic 21
    cDNA 17
    Primer pair 4

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-34116, MGI:106422, MGI:1277111, MGI:2142434, MGI:2142665, MGI:2142669, MGI:2142671, MGI:7482298
References
more
  • Summaries
    All 60
    Developmental Gene Expression 6
    Gene Ontology 9
    Phenotypes 16
  • Earliest
    J:50869 Ko MSH, et al., Genome-wide mapping of unselected transcripts from extraembryonic tissue of 7.5-day mouse embryos reveals enrichment in the t-complex and under-representation on the X chromosome. Hum Mol Genet. 1998 Nov;7(12):1967-78
  • Latest
    J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
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
12/10/2024
MGI 6.24 		The Jackson Laboratory