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KARS (lysyl-tRNA synthetase)

Identity

Alias_namesDFNB89
deafness
Alias_symbol (synonym)KARS2
KARS1
Other aliasCMTRIB
KRS
HGNC (Hugo) KARS
LocusID (NCBI) 3735
Atlas_Id 53130
Location 16q23.1  [Link to chromosome band 16q23]
Location_base_pair Starts at 75627724 and ends at 75647687 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
KARS (16q23.1) / RTN4 (2p16.1)LOXL1 (15q24.1) / KARS (16q23.1)TXNIP (1q21.1) / KARS (16q23.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)KARS   6215
LRG (Locus Reference Genomic)LRG_366
Cards
Entrez_Gene (NCBI)KARS  3735  lysyl-tRNA synthetase
AliasesCMTRIB; DFNB89; KARS1; KARS2; 
KRS
GeneCards (Weizmann)KARS
Ensembl hg19 (Hinxton)ENSG00000065427 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000065427 [Gene_View]  chr16:75627724-75647687 [Contig_View]  KARS [Vega]
ICGC DataPortalENSG00000065427
TCGA cBioPortalKARS
AceView (NCBI)KARS
Genatlas (Paris)KARS
WikiGenes3735
SOURCE (Princeton)KARS
Genetics Home Reference (NIH)KARS
Genomic and cartography
GoldenPath hg38 (UCSC)KARS  -     chr16:75627724-75647687 -  16q23.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KARS  -     16q23.1   [Description]    (hg19-Feb_2009)
EnsemblKARS - 16q23.1 [CytoView hg19]  KARS - 16q23.1 [CytoView hg38]
Mapping of homologs : NCBIKARS [Mapview hg19]  KARS [Mapview hg38]
OMIM601421   613641   613916   
Gene and transcription
Genbank (Entrez)AA503390 AF285758 AK126584 AK309168 AK315687
RefSeq transcript (Entrez)NM_001130089 NM_005548
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KARS
Cluster EST : UnigeneHs.3100 [ NCBI ]
CGAP (NCI)Hs.3100
Alternative Splicing GalleryENSG00000065427
Gene ExpressionKARS [ NCBI-GEO ]   KARS [ EBI - ARRAY_EXPRESS ]   KARS [ SEEK ]   KARS [ MEM ]
Gene Expression Viewer (FireBrowse)KARS [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3735
GTEX Portal (Tissue expression)KARS
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15046   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15046  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15046
Splice isoforms : SwissVarQ15046
Catalytic activity : Enzyme6.1.1.6 [ Enzyme-Expasy ]   6.1.1.66.1.1.6 [ IntEnz-EBI ]   6.1.1.6 [ BRENDA ]   6.1.1.6 [ KEGG ]   
PhosPhoSitePlusQ15046
Domaine pattern : Prosite (Expaxy)AA_TRNA_LIGASE_II (PS50862)   
Domains : Interpro (EBI)aa-tRNA-synt_II    aa-tRNA-synth_II    Lys-tRNA-ligase_II    Lys-tRNA-synth_II_C    NA-bd_OB-fold    NA-bd_OB_tRNA   
Domain families : Pfam (Sanger)tRNA-synt_2 (PF00152)    tRNA_anti-codon (PF01336)   
Domain families : Pfam (NCBI)pfam00152    pfam01336   
Conserved Domain (NCBI)KARS
DMDM Disease mutations3735
Blocks (Seattle)KARS
PDB (SRS)3BJU    4DPG    4YCU    4YCW   
PDB (PDBSum)3BJU    4DPG    4YCU    4YCW   
PDB (IMB)3BJU    4DPG    4YCU    4YCW   
PDB (RSDB)3BJU    4DPG    4YCU    4YCW   
Structural Biology KnowledgeBase3BJU    4DPG    4YCU    4YCW   
SCOP (Structural Classification of Proteins)3BJU    4DPG    4YCU    4YCW   
CATH (Classification of proteins structures)3BJU    4DPG    4YCU    4YCW   
SuperfamilyQ15046
Human Protein AtlasENSG00000065427
Peptide AtlasQ15046
HPRD03249
IPIIPI00014238   IPI00307092   IPI00445108   
Protein Interaction databases
DIP (DOE-UCLA)Q15046
IntAct (EBI)Q15046
FunCoupENSG00000065427
BioGRIDKARS
STRING (EMBL)KARS
ZODIACKARS
Ontologies - Pathways
QuickGOQ15046
Ontology : AmiGOtRNA binding  activation of MAPK activity  basophil activation involved in immune response  positive regulation of cytokine secretion involved in immune response  lysine-tRNA ligase activity  lysine-tRNA ligase activity  protein binding  ATP binding  extracellular space  nucleus  cytoplasm  mitochondrion  mitochondrial matrix  cytosol  cytosol  plasma membrane  tRNA aminoacylation for protein translation  lysyl-tRNA aminoacylation  tRNA processing  negative regulation of cell proliferation  positive regulation of macrophage chemotaxis  diadenosine tetraphosphate biosynthetic process  viral process  amino acid binding  aminoacyl-tRNA synthetase multienzyme complex  tumor necrosis factor-mediated signaling pathway  positive regulation of macrophage activation  positive regulation of transcription, DNA-templated  metal ion binding  ERK1 and ERK2 cascade  positive regulation of ERK1 and ERK2 cascade  positive regulation of cytokine production involved in inflammatory response  positive regulation of p38MAPK cascade  positive regulation of metallopeptidase activity  
Ontology : EGO-EBItRNA binding  activation of MAPK activity  basophil activation involved in immune response  positive regulation of cytokine secretion involved in immune response  lysine-tRNA ligase activity  lysine-tRNA ligase activity  protein binding  ATP binding  extracellular space  nucleus  cytoplasm  mitochondrion  mitochondrial matrix  cytosol  cytosol  plasma membrane  tRNA aminoacylation for protein translation  lysyl-tRNA aminoacylation  tRNA processing  negative regulation of cell proliferation  positive regulation of macrophage chemotaxis  diadenosine tetraphosphate biosynthetic process  viral process  amino acid binding  aminoacyl-tRNA synthetase multienzyme complex  tumor necrosis factor-mediated signaling pathway  positive regulation of macrophage activation  positive regulation of transcription, DNA-templated  metal ion binding  ERK1 and ERK2 cascade  positive regulation of ERK1 and ERK2 cascade  positive regulation of cytokine production involved in inflammatory response  positive regulation of p38MAPK cascade  positive regulation of metallopeptidase activity  
Pathways : KEGGAminoacyl-tRNA biosynthesis   
NDEx NetworkKARS
Atlas of Cancer Signalling NetworkKARS
Wikipedia pathwaysKARS
Orthology - Evolution
OrthoDB3735
GeneTree (enSembl)ENSG00000065427
Phylogenetic Trees/Animal Genes : TreeFamKARS
HOVERGENQ15046
HOGENOMQ15046
Homologs : HomoloGeneKARS
Homology/Alignments : Family Browser (UCSC)KARS
Gene fusions - Rearrangements
Fusion Cancer (Beijing)KARS [16q23.1]  -  RTN4 [2p16.1]  [FUSC000144]  [FUSC000144]  [FUSC000144]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKARS [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KARS
dbVarKARS
ClinVarKARS
1000_GenomesKARS 
Exome Variant ServerKARS
ExAC (Exome Aggregation Consortium)KARS (select the gene name)
Genetic variants : HAPMAP3735
Genomic Variants (DGV)KARS [DGVbeta]
DECIPHERKARS [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKARS 
Mutations
ICGC Data PortalKARS 
TCGA Data PortalKARS 
Broad Tumor PortalKARS
OASIS PortalKARS [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKARS  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKARS
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch KARS
DgiDB (Drug Gene Interaction Database)KARS
DoCM (Curated mutations)KARS (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KARS (select a term)
intoGenKARS
Cancer3DKARS(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601421    613641    613916   
Orphanet19736    12047   
MedgenKARS
Genetic Testing Registry KARS
NextProtQ15046 [Medical]
TSGene3735
GENETestsKARS
Target ValidationKARS
Huge Navigator KARS [HugePedia]
snp3D : Map Gene to Disease3735
BioCentury BCIQKARS
ClinGenKARS
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3735
Chemical/Pharm GKB GenePA30016
Clinical trialKARS
Miscellaneous
canSAR (ICR)KARS (select the gene name)
Probes
Litterature
PubMed102 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKARS
EVEXKARS
GoPubMedKARS
iHOPKARS
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:56:46 CEST 2017

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