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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
  • LysRS 3 4
  • Deafness, Autosomal Recessive 89 2
  • KIAA0070 4
  • EC 6.1.1 63
  • CMTRIB 3
  • DFNB89 3
  • 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 kars-related intermediate charcot-marie-tooth neuropathy 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 nucleic acid binding and tRNA binding.

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

Chromosome:
16
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
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    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 Lys 78, Lys 127, Lys 305, Lys 363, Lys 407, Lys 421, and Lys 430
  • Modification sites at PhosphoSitePlus

Antibody Products

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

Domains & Families for KARS Gene

Gene Families for KARS Gene

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 :
  • 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.
  • Belongs to the class-II aminoacyl-tRNA synthetase family.
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

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 Targets 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

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 & Interactions 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

SIGNOR curated interactions for KARS Gene

Is activated by:

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:0010467 gene expression TAS --
GO:0015966 diadenosine tetraphosphate biosynthetic process IEA --
genes like me logo Genes that share ontologies with KARS: view

Drugs & Compounds for KARS Gene

(20) Drugs for KARS Gene - From: HMDB, DrugBank, and NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Lysine Approved Nutra Full agonist, Agonist, Target 0
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Vinblastine Approved Pharma 218
acetic acid Approved Nutra Full agonist, Agonist 80

(9) Additional Compounds for KARS Gene - From: NovoSeek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Aminoacyl-tRNA
Anticodon
CNQX
115066-14-3
gaba
56-12-2
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:

miRNA Products

Inhibitory RNA Products

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

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

Protein differential expression in normal tissues from HIPED for KARS Gene

This gene is overexpressed in Lymph node (16.5).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with KARS: view

Protein tissue co-expression partners for KARS Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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
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
chimpanzee
(Pan troglodytes)
Mammalia KARS 35
  • 99.63 (n)
  • 99.84 (a)
KARS 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kars 35
  • 88.43 (n)
  • 91.36 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 83 (a)
OneToMany
-- 36
  • 88 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia KARS 36
  • 87 (a)
OneToOne
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
fruit fly
(Drosophila melanogaster)
Insecta CG12141 37
  • 72 (a)
Aats-lys 35
  • 63.83 (n)
  • 67.45 (a)
Aats-lys 36
  • 66 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000325 35
  • 64.91 (n)
  • 69.22 (a)
worm
(Caenorhabditis elegans)
Secernentea krs-1 37
  • 60 (a)
kars-1 35
  • 60.66 (n)
  • 60.54 (a)
kars-1 36
  • 57 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR037C 35
  • 58.91 (n)
  • 59.09 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F18392g 35
  • 58.85 (n)
  • 58.36 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KRS1 35
  • 58.85 (n)
  • 59.27 (a)
KRS1 36
  • 56 (a)
OneToOne
KRS1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons ATKRS-1 35
  • 60.26 (n)
  • 58.53 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.10812 35
rice
(Oryza sativa)
Liliopsida Os03g0586800 35
  • 61.05 (n)
  • 60.39 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.4293 35
corn
(Zea mays)
Liliopsida Zm.6555 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

Variation tolerance for KARS Gene

Residual Variation Intolerance Score: 9.72% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.48; 77.53% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(10) MalaCards diseases for KARS Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
kars-related intermediate charcot-marie-tooth neuropathy
  • charcot-marie-tooth disease, recessive intermediate, b
charcot-marie-tooth disease, recessive intermediate, b
  • charcot-marie-tooth disease, recessive, intermediate type, b
deafness, autosomal recessive 89
  • deafness, autosomal recessive, 89
autosomal recessive intermediate charcot-marie-tooth disease type b
  • charcot-marie-tooth disease, recessive intermediate, b
antisynthetase syndrome
  • as syndrome
- elite association
Search KARS in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for KARS

Genetic Association Database (GAD)
KARS
Human Genome Epidemiology (HuGE) Navigator
KARS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KARS
genes like me logo Genes that share disorders with KARS: view

No data available for Genatlas for KARS Gene

Publications for KARS Gene

  1. Lysyl-tRNA synthetase-generated lysyl-adenylate is a substrate for histidine triad nucleotide binding proteins. (PMID: 17158446) Chou T.F. … Wagner C.R. (J. Biol. Chem. 2007) 23 25 67
  2. 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 23 67
  3. 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 23 67
  4. Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. (PMID: 23768514) Santos-Cortez R.L. … Leal S.M. (Am. J. Hum. Genet. 2013) 2 67
  5. Ion-dependent gating of kainate receptors. (PMID: 19822544) Bowie D. (J. Physiol. (Lond.) 2010) 23 67

Products for KARS Gene

Sources for KARS Gene

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