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Aliases for KARS Gene

Aliases for KARS Gene

  • Lysyl-TRNA Synthetase 2 3 4
  • Lysine TRNA Ligase 2 3
  • EC 6.1.1.6 4 63
  • CMTRIB 3 6
  • DFNB89 3 6
  • LysRS 3 4
  • Deafness, Autosomal Recessive 89 2
  • Lysine--TRNA Ligase 3
  • KIAA0070 4
  • EC 6.1.1 63
  • KARS1 3
  • KARS2 3
  • KRS 3

External Ids for KARS Gene

Previous HGNC Symbols for KARS Gene

  • DFNB89

Previous GeneCards Identifiers for KARS Gene

  • GC16M066591
  • GC16M076622
  • GC16M075400
  • GC16M075442
  • GC16M075443
  • GC16M074219
  • GC16M061415

Summaries for KARS Gene

Entrez Gene Summary for KARS Gene

  • Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Lysyl-tRNA synthetase is a homodimer localized to the cytoplasm which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for KARS Gene

KARS (Lysyl-TRNA Synthetase) is a Protein Coding gene. Diseases associated with KARS include deafness, autosomal recessive 89 and charcot-marie-tooth disease, recessive intermediate, b. Among its related pathways are Translational Control and Gene Expression. GO annotations related to this gene include tRNA binding and lysine-tRNA ligase activity.

UniProtKB/Swiss-Prot for KARS Gene

  • Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA. When secreted, acts as a signaling molecule that induces immune response through the activation of monocyte/macrophages. Catalyzes the synthesis of diadenosine oligophosphate (Ap4A), a signaling molecule involved in the activation of MITF transcriptional activity. Interacts with HIV-1 virus GAG protein, facilitating the selective packaging of tRNA(3)(Lys), the primer for reverse transcription initiation.

Gene Wiki entry for KARS Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KARS Gene

Genomics for KARS Gene

Regulatory Elements for KARS Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for KARS Gene

Start:
75,627,474 bp from pter
End:
75,648,643 bp from pter
Size:
21,170 bases
Orientation:
Minus strand

Genomic View for KARS Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KARS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KARS Gene

Proteins for KARS Gene

  • Protein details for KARS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15046-SYK_HUMAN
    Recommended name:
    Lysine--tRNA ligase
    Protein Accession:
    Q15046
    Secondary Accessions:
    • A8MSK1
    • D3DUK4
    • O14946
    • Q96J25
    • Q9HB23

    Protein attributes for KARS Gene

    Size:
    597 amino acids
    Molecular mass:
    68048 Da
    Quaternary structure:
    • Homodimer; also part of a multisubunit complex that groups AIMP1, AIMP2, EEF1A1 and tRNA ligases for Arg, Asp, Glu, Gln, Ile, Leu, Lys, Met and Pro. Interacts with AIMP2 (via N-terminus) and MITF. Interacts directly with HIV-1 virus GAG protein.
    Miscellaneous:
    • Shares a bidirectional promoter with TERF2IP/RAP1.
    SequenceCaution:
    • Sequence=BAA06688.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KARS Gene

    Alternative splice isoforms for KARS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KARS Gene

Proteomics data for KARS Gene at MOPED

Post-translational modifications for KARS Gene

  • Ubiquitination at Lys78, Lys127, Lys305, Lys363, Lys407, Lys421, and Lys430
  • Modification sites at PhosphoSitePlus

Other Protein References for KARS Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for KARS (KARS)

Domains for KARS Gene

Gene Families for KARS Gene

HGNC:
  • aaRS2 :Aminoacyl tRNA synthetases / Class II

Suggested Antigen Peptide Sequences for KARS Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15046

UniProtKB/Swiss-Prot:

SYK_HUMAN :
  • Q15046
Domain:
  • The N-terminal domain (1-65) of the cytoplasmic isoform is a functional tRNA-binding domain (By similarity), is required for nuclear localization, is involved in the interaction with DARS, but has a repulsive role in the binding to EEF1A1. A central domain (208-259) is involved in homodimerization and is required for interaction with HIV-1 GAG and incorporation into virions. The C-terminal domain (452-597) is not required for interaction with AIMP2.
Family:
  • Belongs to the class-II aminoacyl-tRNA synthetase family.
genes like me logo Genes that share domains with KARS: view

Function for KARS Gene

Molecular function for KARS Gene

GENATLAS Biochemistry: lysyl-tRNA synthetase,target of autoantibodies in the autoimmune disease polymyositis/dermatomyositis
UniProtKB/Swiss-Prot CatalyticActivity: ATP + L-lysine + tRNA(Lys) = AMP + diphosphate + L-lysyl-tRNA(Lys)
UniProtKB/Swiss-Prot EnzymeRegulation: Up-regulated by DARS and EEF1A1, but not by AIMP2
UniProtKB/Swiss-Prot Function: Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA. When secreted, acts as a signaling molecule that induces immune response through the activation of monocyte/macrophages. Catalyzes the synthesis of diadenosine oligophosphate (Ap4A), a signaling molecule involved in the activation of MITF transcriptional activity. Interacts with HIV-1 virus GAG protein, facilitating the selective packaging of tRNA(3)(Lys), the primer for reverse transcription initiation.

Enzyme Numbers (IUBMB) for KARS Gene

Gene Ontology (GO) - Molecular Function for KARS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000049 tRNA binding NAS 10952987
GO:0000166 nucleotide binding --
GO:0003676 nucleic acid binding --
GO:0004812 aminoacyl-tRNA ligase activity --
GO:0004824 lysine-tRNA ligase activity TAS --
genes like me logo Genes that share ontologies with KARS: view
genes like me logo Genes that share phenotypes with KARS: view

Animal Model Products

CRISPR Products

miRNA for KARS Gene

miRTarBase miRNAs that target KARS

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KARS

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for KARS Gene

Localization for KARS Gene

Subcellular locations from UniProtKB/Swiss-Prot for KARS Gene

Isoform Cytoplasmic: Cytoplasm. Nucleus. Cell membrane; Peripheral membrane protein. Secreted. Note=Secretion is induced by TNF-alpha.
Isoform Mitochondrial: Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KARS Gene COMPARTMENTS Subcellular localization image for KARS gene
Compartment Confidence
extracellular 5
mitochondrion 5
nucleus 5
plasma membrane 5
cytoskeleton 4
cytosol 4
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for KARS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IDA 10952987
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with KARS: view

Pathways for KARS Gene

genes like me logo Genes that share pathways with KARS: view

Pathways by source for KARS Gene

1 Cell Signaling Technology pathway for KARS Gene
1 KEGG pathway for KARS Gene

Gene Ontology (GO) - Biological Process for KARS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006418 tRNA aminoacylation for protein translation TAS --
GO:0006430 lysyl-tRNA aminoacylation IDA 10952987
GO:0008033 tRNA processing NAS 10952987
GO:0008219 cell death --
GO:0010467 gene expression TAS --
genes like me logo Genes that share ontologies with KARS: view

Compounds for KARS Gene

(5) HMDB Compounds for KARS Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine monophosphate
  • 5'-AMP
61-19-8
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
L-Lysine
  • (+)-S-Lysine
56-87-1
Phosphoric acid
  • acide phosphorique (FRENCH)
7664-38-2
Pyrophosphate
  • (4-)Diphosphoric acid ion
14000-31-8

(1) Drugbank Compounds for KARS Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
L-Lysine
  • (S)-2,6-diaminohexanoic acid
56-87-1 target

(24) Novoseek inferred chemical compound relationships for KARS Gene

Compound -log(P) Hits PubMed IDs
trna(lys) 88 18
aminoacyl-trna 85.1 6
kainate 83.7 35
trna 68 27
atpa 65.8 1
genes like me logo Genes that share compounds with KARS: view

Transcripts for KARS Gene

Unigene Clusters for KARS Gene

Lysyl-tRNA synthetase:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KARS

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KARS Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b ^
SP1: - -
SP2: - - -
SP3: - - - -
SP4: - -
SP5:
SP6: - - - - - - -
SP7: - - - -
SP8: - -
SP9: - - - - - - -
SP10:
SP11: - - - - - - -
SP12: -
SP13: - - - - -
SP14: - -
SP15:
SP16: - - - - - - - - - - - - - - - - - - -

ExUns: 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b · 17c · 17d
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16: - - - - - -

Relevant External Links for KARS Gene

GeneLoc Exon Structure for
KARS
ECgene alternative splicing isoforms for
KARS

Expression for KARS Gene

mRNA expression in normal human tissues for KARS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for KARS Gene

SOURCE GeneReport for Unigene cluster for KARS Gene Hs.3100

genes like me logo Genes that share expressions with KARS: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for KARS Gene

Orthologs for KARS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for KARS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KARS 35
  • 99.63 (n)
  • 99.84 (a)
KARS 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KARS 35
  • 90.8 (n)
  • 93.26 (a)
KARS 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KARS 35
  • 91.25 (n)
  • 93.6 (a)
KARS 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kars 35
  • 88.78 (n)
  • 91.51 (a)
Kars 16
Kars 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 83 (a)
OneToMany
-- 36
  • 88 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia KARS 36
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kars 35
  • 88.43 (n)
  • 91.36 (a)
chicken
(Gallus gallus)
Aves KARS 35
  • 77.17 (n)
  • 84.59 (a)
KARS 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KARS 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kars 35
  • 75.28 (n)
  • 82 (a)
Str.3042 35
zebrafish
(Danio rerio)
Actinopterygii Dr.28209 35
kars 35
  • 74.97 (n)
  • 82.8 (a)
kars 36
  • 77 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000325 35
  • 64.91 (n)
  • 69.22 (a)
fruit fly
(Drosophila melanogaster)
Insecta Aats-lys 35
  • 63.83 (n)
  • 67.45 (a)
Aats-lys 36
  • 66 (a)
OneToOne
CG12141 37
  • 72 (a)
worm
(Caenorhabditis elegans)
Secernentea kars-1 35
  • 60.66 (n)
  • 60.54 (a)
kars-1 36
  • 57 (a)
OneToOne
krs-1 37
  • 60 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR037C 35
  • 58.91 (n)
  • 59.09 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KRS1 35
  • 58.85 (n)
  • 59.27 (a)
KRS1 36
  • 56 (a)
OneToOne
KRS1 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F18392g 35
  • 58.85 (n)
  • 58.36 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons ATKRS-1 35
  • 60.26 (n)
  • 58.53 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.10812 35
corn
(Zea mays)
Liliopsida Zm.6555 35
rice
(Oryza sativa)
Liliopsida Os03g0586800 35
  • 61.05 (n)
  • 60.39 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.4293 35
bread mold
(Neurospora crassa)
Ascomycetes NCU04020 35
  • 55.78 (n)
  • 54.24 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes krs1 35
  • 58.81 (n)
  • 60.51 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 73 (a)
OneToMany
CSA.665 36
  • 68 (a)
OneToMany
Species with no ortholog for KARS:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for KARS Gene

ENSEMBL:
Gene Tree for KARS (if available)
TreeFam:
Gene Tree for KARS (if available)

Paralogs for KARS Gene

Pseudogenes.org Pseudogenes for KARS Gene

genes like me logo Genes that share paralogs with KARS: view

No data available for Paralogs for KARS Gene

Variants for KARS Gene

Sequence variations from dbSNP and Humsavar for KARS Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs6834 - 75,627,905(-) TGGCA(C/G)TTCTG reference, missense
rs11505 -- 75,627,836(-) ATCAA(A/G)GTCTG utr-variant-3-prime
rs1802510 -- 75,627,977(-) GTTTC(C/T)TGCCA reference, missense
rs1802511 -- 75,627,857(-) GTCTT(C/T)GCATT utr-variant-3-prime
rs2289063 -- 75,633,893(+) ATCCA(C/T)GTAAG intron-variant

Relevant External Links for KARS Gene

HapMap Linkage Disequilibrium report
KARS
Human Gene Mutation Database (HGMD)
KARS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for KARS Gene

Disorders for KARS Gene

(2) OMIM Diseases for KARS Gene (601421)

UniProtKB/Swiss-Prot

SYK_HUMAN
  • Charcot-Marie-Tooth disease, recessive, intermediate type, B (CMTRIB) [MIM:613641]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. {ECO:0000269 PubMed:20920668}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Deafness, autosomal recessive, 89 (DFNB89) [MIM:613916]: A form of non-syndromic deafness characterized by bilateral, prelingual, moderate to severe hearing loss affecting all frequencies. {ECO:0000269 PubMed:23768514}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) Novoseek inferred disease relationships for KARS Gene

Disease -log(P) Hits PubMed IDs
microphthalmia 45.5 2
immunodeficiency 43.7 7

Relevant External Links for KARS

Genetic Association Database (GAD)
KARS
Human Genome Epidemiology (HuGE) Navigator
KARS
genes like me logo Genes that share disorders with KARS: view

Publications for KARS Gene

  1. Human lysyl-tRNA synthetase accepts nucleotide 73 variants and rescues Escherichia coli double-defective mutant. (PMID: 9278442) Shiba K. … Schimmel P. (J. Biol. Chem. 1997) 2 3 4 23
  2. The interaction between HIV-1 Gag and human lysyl-tRNA synthetase during viral assembly. (PMID: 12756246) Javanbakht H. … Kleiman L. (J. Biol. Chem. 2003) 3 4 23
  3. Cellular distribution of Lysyl-tRNA synthetase and its interaction with Gag during human immunodeficiency virus type 1 assembly. (PMID: 15220430) Halwani R. … Kleiman L. (J. Virol. 2004) 3 4 23
  4. Assignment of two human autoantigen genes-isoleucyl-tRNA synthetase locates to 9q21 and lysyl-tRNA synthetase locates to 16q23-q24. (PMID: 8812440) Nichols R.C. … Liu P. (Genomics 1996) 2 3 23
  5. Macromolecular assemblage of aminoacyl-tRNA synthetases: identification of protein-protein interactions and characterization of a core protein. (PMID: 9878398) Quevillon S. … Mirande M. (J. Mol. Biol. 1999) 3 4 23

Products for KARS Gene

Sources for KARS Gene

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