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Aliases for KARS Gene

Aliases for KARS Gene

  • Lysyl-TRNA Synthetase 2 3 4 5
  • Lysine TRNA Ligase 2 3
  • EC 6.1.1.6 4 58
  • LysRS 3 4
  • Deafness, Autosomal Recessive 89 2
  • Lysine--TRNA Ligase 3
  • EC 2.7.7.- 4
  • KIAA0070 4
  • EC 6.1.1 58
  • 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
  • GC16M075661
  • 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 Charcot-Marie-Tooth Disease, Recessive Intermediate, B and Deafness, Autosomal Recessive 89. Among its related pathways are Metabolism and Translational Control. 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 (PubMed:9278442, PubMed:18029264, PubMed:18272479). When secreted, acts as a signaling molecule that induces immune response through the activation of monocyte/macrophages (PubMed:15851690). Catalyzes the synthesis of the signaling molecule diadenosine tetraphosphate (Ap4A), and thereby mediates disruption of the complex between HINT1 and MITF and the concomitant activation of MITF transcriptional activity (PubMed:5338216, PubMed:14975237, PubMed:19524539, PubMed:23159739).

  • (Microbial infection) 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

Additional gene information for KARS Gene

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

Genomics for KARS Gene

Regulatory Elements for KARS Gene

Enhancers for KARS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H075564 1.5 FANTOM5 ENCODE 24.2 +82.4 82398 3.2 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZBTB7B YY1 ZNF143 RFWD3 ADAT1 KARS WDR59 TMEM231 TMEM170A GABARAPL2 ENSG00000276408
GH16H074665 1.4 FANTOM5 ENCODE 21 +981.6 981646 2.4 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 RFWD3 ENSG00000214331 ADAT1 KARS ENSG00000261079 GLG1 NPIPB15 TMPOP2
GH16H075432 1.2 ENCODE 15.9 +214.9 214917 2.4 PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ENSG00000261783 CFDP1 GLG1 KARS RFWD3 ADAT1 TMEM231 ENSG00000274220
GH16H075516 1.4 ENCODE dbSUPER 9.9 +131.6 131631 2 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ADAT1 TMEM231 RFWD3 CHST6 GABARAPL2 KARS LOC100420067 CHST5
GH16H075461 1.1 ENCODE 9.9 +185.0 185023 3.5 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ENSG00000261783 RFWD3 ADAT1 GABARAPL2 KARS CFDP1 BCAR1 ENSG00000261476 ENSG00000261717
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KARS on UCSC Golden Path with GeneCards custom track

Promoters for KARS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000088037 -57 3801 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZBTB7B

Genomic Locations for KARS Gene

Genomic Locations for KARS Gene
chr16:75,627,474-75,648,643
(GRCh38/hg38)
Size:
21,170 bases
Orientation:
Minus strand
chr16:75,661,622-75,682,541
(GRCh37/hg19)

Genomic View for KARS Gene

Genes around KARS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KARS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 (PubMed:18272479, PubMed:23159739, PubMed:26074468). Part of a multisubunit complex that groups tRNA ligases for Arg (RARS), Asp (DARS), Gln (QARS), Ile (IARS), Leu (LARS), Lys (KARS), Met (MARS) the bifunctional ligase for Glu and Pro (EPRS) and the auxiliary subunits AIMP1/p43, AIMP2/p38 and EEF1E1/p18 (PubMed:19131329, PubMed:19289464, PubMed:23159739). Interacts with AIMP2 (via N-terminus) and MITF (PubMed:9878398, PubMed:14975237, PubMed:15220430, PubMed:23159739, PubMed:26074468).
    • (Microbial infection) Interacts directly with HIV-1 virus GAG protein (PubMed:12756246, PubMed:15220430).
    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

Selected DME Specific Peptides for KARS Gene

Q15046:
  • THNPEFT
  • RQRYLDLI
  • PFITYHN
  • FRNEGID
  • IMSPLAKWHRS
  • ALEYGLPPT
  • AYADYHD
  • AGDDEAM
  • TERFELF
  • HFGLKDKE
  • FLEIETP
  • RYRQRYLDL
  • YMAYADY
  • GLPPTAG
  • PCLHMLP
  • GGIDRVYE
  • VLLFPAM

Post-translational modifications for KARS Gene

  • Phosphorylated on a serine residue after mast cell stimulation with immunoglobulin E (IgE).
  • Ubiquitination at posLast=7878, isoforms=2127, isoforms=2305, posLast=363363, posLast=407407, posLast=421421, and isoforms=2430
  • Modification sites at PhosphoSitePlus

Domains & Families for KARS Gene

Gene Families for KARS Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

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, 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, 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 (PubMed:9278442, PubMed:18029264, PubMed:18272479). When secreted, acts as a signaling molecule that induces immune response through the activation of monocyte/macrophages (PubMed:15851690). Catalyzes the synthesis of the signaling molecule diadenosine tetraphosphate (Ap4A), and thereby mediates disruption of the complex between HINT1 and MITF and the concomitant activation of MITF transcriptional activity (PubMed:5338216, PubMed:14975237, PubMed:19524539, PubMed:23159739).
UniProtKB/Swiss-Prot Function:
(Microbial infection) 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

Phenotypes From GWAS Catalog 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 IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003877 ATP adenylyltransferase activity IDA 23159739
GO:0004812 aminoacyl-tRNA ligase activity IEA --
genes like me logo Genes that share ontologies with KARS: view
genes like me logo Genes that share phenotypes with KARS: view

Human Phenotype Ontology for KARS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KARS Gene

MGI Knock Outs for KARS:
  • Kars tm2b(EUCOMM)Hmgu

Animal Model Products

Inhibitory RNA Products

No data available for 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, cytosol. Cytoplasm. Nucleus. Cell membrane; Peripheral membrane protein. Secreted. Note=Secretion is induced by TNF-alpha (PubMed:15851690). Cytosolic in quiescent mast cells. Translocates into the nucleus in response to mast cell activation by immunoglobulin E (PubMed:23159739). {ECO:0000269 PubMed:15851690, ECO:0000269 PubMed:23159739}.
Isoform Mitochondrial: Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KARS gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytosol 5
plasma membrane 4
nucleus 4
cytoskeleton 3
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for KARS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IDA 15851690
GO:0005634 nucleus IDA,IEA 23159739
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IDA,IEA 10952987
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 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:0000187 activation of MAPK activity IDA 15851690
GO:0002276 basophil activation involved in immune response IGI 19524539
GO:0002741 positive regulation of cytokine secretion involved in immune response IDA 15851690
GO:0006412 translation IEA --
GO:0006418 tRNA aminoacylation for protein translation IEA,TAS --
genes like me logo Genes that share ontologies with KARS: view

Drugs & Compounds for KARS Gene

(21) Drugs for KARS Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Lysine Approved Nutra Full agonist, Agonist, Target 0
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved Nutra 0
ATP Nutra Agonist 0

(8) Additional Compounds for KARS Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
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:

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for KARS Gene



Protein tissue co-expression partners for KARS Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KARS Gene:

KARS

SOURCE GeneReport for Unigene cluster for KARS Gene:

Hs.3100

Evidence on tissue expression from TISSUES for KARS Gene

  • Nervous system(4.9)
  • Bone marrow(4.6)
  • Eye(3.4)
  • Lung(3.2)
  • Intestine(3.1)
  • Adrenal gland(2.9)
  • Gall bladder(2.9)
  • Lymph node(2.9)
  • Pancreas(2.9)
  • Skin(2.9)
  • Spleen(2.9)
  • Stomach(2.9)
  • Kidney(2.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KARS Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • middle ear
  • outer ear
  • skull
Limb:
  • foot
  • lower limb
  • shin
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with KARS: view

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
chimpanzee
(Pan troglodytes)
Mammalia KARS 33 34
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia KARS 33 34
  • 91.25 (n)
cow
(Bos Taurus)
Mammalia KARS 33 34
  • 90.8 (n)
mouse
(Mus musculus)
Mammalia Kars 33 16 34
  • 88.78 (n)
rat
(Rattus norvegicus)
Mammalia Kars 33
  • 88.43 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 88 (a)
OneToMany
-- 34
  • 83 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia KARS 34
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves KARS 33 34
  • 77.17 (n)
lizard
(Anolis carolinensis)
Reptilia KARS 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kars 33
  • 75.28 (n)
Str.3042 33
zebrafish
(Danio rerio)
Actinopterygii kars 33 34
  • 74.97 (n)
Dr.28209 33
fruit fly
(Drosophila melanogaster)
Insecta CG12141 35
  • 72 (a)
Aats-lys 33 34
  • 63.83 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000325 33
  • 64.91 (n)
worm
(Caenorhabditis elegans)
Secernentea kars-1 33 34
  • 60.66 (n)
krs-1 35
  • 60 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR037C 33
  • 58.91 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F18392g 33
  • 58.85 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KRS1 33 34 36
  • 58.85 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ATKRS-1 33
  • 60.26 (n)
rice
(Oryza sativa)
Liliopsida Os03g0586800 33
  • 61.05 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.10812 33
wheat
(Triticum aestivum)
Liliopsida Ta.4293 33
corn
(Zea mays)
Liliopsida Zm.6555 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 73 (a)
OneToMany
CSA.665 34
  • 68 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes krs1 33
  • 58.81 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU04020 33
  • 55.78 (n)
Species where no ortholog for KARS was found in the sources mined by GeneCards:
  • 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
rs146955132 Charcot-Marie-Tooth disease, recessive, intermediate type, B (CMTRIB) [MIM:613641] 75,634,266(+) CCTGG(C/G)ATGAT reference, missense
rs267607194 Pathogenic, Charcot-Marie-Tooth disease, recessive, intermediate type, B (CMTRIB) [MIM:613641] 75,640,258(-) CTCAC(A/T)CACTG reference, missense, utr-variant-5-prime
rs397514745 Pathogenic, Deafness, autosomal recessive, 89 (DFNB89) [MIM:613916] 75,636,503(-) TCTTC(C/T)ATGAT reference, missense, utr-variant-5-prime
rs397514746 Pathogenic, Deafness, autosomal recessive, 89 (DFNB89) [MIM:613916] 75,631,726(-) ATCAC(A/G)ATCTC reference, missense
rs587776688 Pathogenic 75,636,506(+) TAGAA(-/AA)GATGA reference, frameshift-variant, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for KARS Gene

Variant ID Type Subtype PubMed ID
nsv472233 CNV novel sequence insertion 20440878
nsv1065543 CNV loss 25217958

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

Human Gene Mutation Database (HGMD)
KARS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KARS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KARS Gene

Disorders for KARS Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, recessive intermediate, b
  • charcot-marie-tooth disease recessive intermediate b
deafness, autosomal recessive 89
  • autosomal recessive nonsyndromic deafness 89
dfnb89 nonsyndromic hearing loss and deafness
  • deafness, autosomal recessive 89
kars-related intermediate charcot-marie-tooth neuropathy
  • cmtrib
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
- elite association - COSMIC cancer census association via MalaCards
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. Human lysyl-tRNA synthetase accepts nucleotide 73 variants and rescues Escherichia coli double-defective mutant. (PMID: 9278442) Shiba K … Schimmel P (The Journal of biological chemistry 1997) 2 3 4 22 60
  2. Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. (PMID: 23768514) Santos-Cortez RL … Leal SM (American journal of human genetics 2013) 2 3 4 60
  3. LysRS serves as a key signaling molecule in the immune response by regulating gene expression. (PMID: 19524539) Yannay-Cohen N … Razin E (Molecular cell 2009) 3 4 22 60
  4. Crystal structure of tetrameric form of human lysyl-tRNA synthetase: Implications for multisynthetase complex formation. (PMID: 18272479) Guo M … Yang XL (Proceedings of the National Academy of Sciences of the United States of America 2008) 3 4 22 60
  5. Human lysyl-tRNA synthetase is secreted to trigger proinflammatory response. (PMID: 15851690) Park SG … Kim S (Proceedings of the National Academy of Sciences of the United States of America 2005) 3 4 22 60

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