Gene

kars1

ID
ZDB-GENE-021115-8
Name
lysyl-tRNA synthetase 1
Symbol
kars1 Nomenclature History
Previous Names
  • kars
  • cb530 (1)
  • wu:fa16h02
  • zgc:92483
Type
protein_coding_gene
Location
Chr: 7 Mapping Details/Browsers
Description
Predicted to have ATP adenylyltransferase activity; lysine-tRNA ligase activity; and tRNA binding activity. Predicted to be involved in several processes, including diadenosine tetraphosphate biosynthetic process; lysyl-tRNA aminoacylation; and positive regulation of macrophage activation. Predicted to localize to several cellular components, including aminoacyl-tRNA synthetase multienzyme complex; extracellular space; and mitochondrion. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease recessive intermediate B and autosomal recessive nonsyndromic deafness 89. Is expressed in several structures, including alar plate midbrain region; immature eye; musculature system; nervous system; and segmental plate. Orthologous to human KARS1 (lysyl-tRNA synthetase 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
14 figures from 7 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
9 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With kars1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
autosomal recessive nonsyndromic deafness 89 Alliance Deafness, autosomal recessive 89 613916
Charcot-Marie-Tooth disease recessive intermediate B Alliance ?Charcot-Marie-Tooth disease, recessive intermediate, B 613641
Deafness, congenital, and adult-onset progressive leukoencephalopathy 619196
Leukoencephalopathy, progressive, infantile-onset, with or without deafness 619147
Associated With kars1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR004364 Aminoacyl-tRNA synthetase, class II (D/K/N)
Domain IPR004365 OB-fold nucleic acid binding domain, AA-tRNA synthetase-type
Domain IPR006195 Aminoacyl-tRNA synthetase, class II
Domain IPR018149 Lysyl-tRNA synthetase, class II, C-terminal
Domain IPR044136 Lysine-tRNA ligase, class II, N-terminal
Family IPR002313 Lysine-tRNA ligase, class II
Family IPR034762 Bacterial/eukaryotic lysine-tRNA ligase, class II
Homologous_superfamily IPR012340 Nucleic acid-binding, OB-fold
Homologous_superfamily IPR045864 Class II Aminoacyl-tRNA synthetase/Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL)
Domain Details Per Protein
Protein Length Aminoacyl-tRNA synthetase, class II Aminoacyl-tRNA synthetase, class II (D/K/N) Bacterial/eukaryotic lysine-tRNA ligase, class II Class II Aminoacyl-tRNA synthetase/Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL) Lysine-tRNA ligase, class II Lysine-tRNA ligase, class II, N-terminal Lysyl-tRNA synthetase, class II, C-terminal Nucleic acid-binding, OB-fold OB-fold nucleic acid binding domain, AA-tRNA synthetase-type
UniProtKB:Q6DHE6 602
UniProtKB:A0A0R4IC11 577
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations