full name
lysyl-tRNA synthetase

synonyms
CMTRIB, DFNB89, KARS1, KARS2, KRS, KARS, ENSG00000065427

HGNC
HGNC:6215

Entrez Gene
Gene:3735

ENSEMBL
ENSG00000065427

location
chr: 16
start: 75661622
stop: 75681585
strand: -

OMIM
OMIM:601421: KARS (Autosomal recessive inheritance)
OMIM:613641: ?Charcot-Marie-Tooth disease, recessive intermediate, B
OMIM:613916: Deafness, autosomal recessive 89

transcripts
NM_005548.2
NM_001130089.1

pathways
Aminoacyl-tRNA biosynthesis [NCBI:83030] [KEGG:hsa00970] [PUBMED:15314242] [PUBMED:18252769]
Cytosolic tRNA aminoacylation [NCBI:1269710] [REACTOME:R-HSA-379716] [PUBMED:16169847] [PUBMED:14500886] [PUBMED:9878398]
Gene Expression [NCBI:1269649] [REACTOME:R-HSA-74160]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of amino acids and derivatives [NCBI:1270158] [REACTOME:R-HSA-71291]
Mitochondrial tRNA aminoacylation [NCBI:1269711] [REACTOME:R-HSA-379726] [PUBMED:11121736]
SeMet incorporation into proteins [NCBI:1339155] [REACTOME:R-HSA-2408517] [PUBMED:16661668] [PUBMED:16661782]
Selenoamino acid metabolism [NCBI:1339149] [REACTOME:R-HSA-2408522] [PUBMED:20812787]
tRNA Aminoacylation [NCBI:1269709] [REACTOME:R-HSA-379724] [PUBMED:16125937] [PUBMED:5324173] [PUBMED:18682559] [PUBMED:764868] [PUBMED:1894595] [PUBMED:5324172] [PUBMED:18767960] [PUBMED:182209]