KARS1 Gene (Protein Coding)

Lysyl-TRNA Synthetase 1

GC16M075628
GIFtS:
38
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 variant... See more...

Aliases for KARS1 Gene

Aliases for KARS1 Gene

  • Lysyl-TRNA Synthetase 1 2 3 5
  • Lysyl-TRNA Synthetase 2 4
  • Lysine--TRNA Ligase 3 4
  • Lysine TRNA Ligase 2 3
  • EC 6.1.1.6 4 50
  • KARS2 2 3
  • LysRS 3 4
  • KARS 3 4
  • Deafness, Autosomal Recessive 89 2
  • EC 2.7.7.- 4
  • KIAA0070 4
  • EC 6.1.1 50
  • CMTRIB 3
  • DEAPLE 3
  • DFNB89 3
  • LEPID 3
  • KARS1 5
  • KRS 3

External Ids for KARS1 Gene

Previous HGNC Symbols for KARS1 Gene

  • DFNB89
  • KARS

Summaries for KARS1 Gene

Entrez Gene Summary for KARS1 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 KARS1 Gene

KARS1 (Lysyl-TRNA Synthetase 1) is a Protein Coding gene. Diseases associated with KARS1 include Charcot-Marie-Tooth Disease, Recessive Intermediate B and Deafness, Autosomal Recessive 89. Among its related pathways are Viral mRNA Translation and tRNA Aminoacylation. An important paralog of this gene is DARS2.

UniProtKB/Swiss-Prot Summary for KARS1 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 KARS1 Gene

Additional gene information for KARS1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KARS1 Gene

Genomics for KARS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for KARS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KARS1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KARS1

Genomic Locations for KARS1 Gene

Latest Assembly
chr16:75,627,474-75,648,643
(GRCh38/hg38)
Size:
21,170 bases
Orientation:
Minus strand

Previous Assembly
chr16:75,661,622-75,681,563
(GRCh37/hg19 by Entrez Gene)
Size:
19,942 bases
Orientation:
Minus strand

chr16:75,661,622-75,682,541
(GRCh37/hg19 by Ensembl)
Size:
20,920 bases
Orientation:
Minus strand

Genomic View for KARS1 Gene

Genes around KARS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KARS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KARS1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for KARS1 Gene

Proteins for KARS1 Gene

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  • Protein details for KARS1 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 KARS1 Gene

    Size:
    597 amino acids
    Molecular mass:
    68048 Da
    Quaternary structure:
    • Homodimer and tetradimer (PubMed:18272479, PubMed:23159739, PubMed:26074468, PubMed:28887846). Part of the multisynthetase complex (MSC), 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:24312579, PubMed:23159739). Interacts with AIMP2 (via N-terminus) and MITF (PubMed:9878398, PubMed:14975237, PubMed:15220430, PubMed:23159739, PubMed:26074468). Interacts with TARSL2 (PubMed:24312579).
    • (Microbial infection) Interacts directly with HIV-1 virus GAG protein (PubMed:12756246, PubMed:15220430).
    SequenceCaution:
    • Sequence=BAA06688.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • Shares a bidirectional promoter with TERF2IP/RAP1.
    • [Isoform Mitochondrial]: Mitochondrial precursor. Contains a mitochondrial transit peptide at positions 1-16.

    Three dimensional structures from OCA and Proteopedia for KARS1 Gene

    Alternative splice isoforms for KARS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KARS1 Gene

Selected DME Specific Peptides for KARS1 Gene

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

Post-translational modifications for KARS1 Gene

  • Phosphorylated on a serine residue after mast cell stimulation with immunoglobulin E (IgE).
  • Ubiquitination at Lys78, Lys127, Lys305, Lys363, Lys407, Lys421, and Lys430
  • Modification sites at PhosphoSitePlus

Other Protein References for KARS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for KARS1 Gene

Gene Families for KARS1 Gene

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

Protein Domains for KARS1 Gene

InterPro:
Blocks:
  • tRNA synthetase, class II (D, K and N)
  • OB-fold nucleic acid binding domain
  • Lysyl-tRNA synthetase signature

Suggested Antigen Peptide Sequences for KARS1 Gene

GenScript: Design optimal peptide antigens:
  • Lysine--tRNA ligase (SYK_HUMAN)

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 KARS1: view

Function for KARS1 Gene

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  6. Cell Lines for research

Molecular function for KARS1 Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-lysine + tRNA(Lys) = AMP + diphosphate + L-lysyl-tRNA(Lys); Xref=Rhea:RHEA:20792, Rhea:RHEA-COMP:9696, Rhea:RHEA-COMP:9697, ChEBI:CHEBI:30616, ChEBI:CHEBI:32551, ChEBI:CHEBI:33019, ChEBI:CHEBI:78442, ChEBI:CHEBI:78529, ChEBI:CHEBI:456215; EC=6.1.1.6; Evidence={ECO:0000269|PubMed:18029264, ECO:0000269|PubMed:23159739, ECO:0000269|PubMed:9278442};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.19 uM for tRNA(Lys) {ECO:0000269|PubMed:28887846}; Note=Kcat is 0.31 (sec-1) for aminoacylation for tRNA(Lys). {ECO:0000269|PubMed:28887846};
UniProtKB/Swiss-Prot EnzymeRegulation:
Up-regulated by DARS and EEF1A1, but not by AIMP2.

Enzyme Numbers (IUBMB) for KARS1 Gene

Phenotypes From GWAS Catalog for KARS1 Gene

Gene Ontology (GO) - Molecular Function for KARS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000049 tRNA binding IBA,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 KARS1: view
genes like me logo Genes that share phenotypes with KARS1: view

Human Phenotype Ontology for KARS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KARS1 Gene

MGI Knock Outs for KARS1:
  • Kars Kars<tm2b(EUCOMM)Hmgu>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KARS1

Clone products for research

No data available for Transcription Factor Targets and HOMER Transcription for KARS1 Gene

Localization for KARS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KARS1 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 KARS1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 5
plasma membrane 4
extracellular 4
cytoskeleton 3
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KARS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IDA 15851690
GO:0005634 nucleus IBA,IDA 23159739
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IBA,IDA 10952987
genes like me logo Genes that share ontologies with KARS1: view

Pathways & Interactions for KARS1 Gene

genes like me logo Genes that share pathways with KARS1: view

Pathways by source for KARS1 Gene

1 KEGG pathway for KARS1 Gene
1 Cell Signaling Technology pathway for KARS1 Gene

SIGNOR curated interactions for KARS1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for KARS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000187 activation of MAPK activity IBA --
GO:0002276 basophil activation involved in immune response IBA,IGI 19524539
GO:0002863 positive regulation of inflammatory response to antigenic stimulus IDA 15851690
GO:0006412 translation IEA --
GO:0006418 tRNA aminoacylation for protein translation IEA,TAS --
genes like me logo Genes that share ontologies with KARS1: view

Drugs & Compounds for KARS1 Gene

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(20) Drugs for KARS1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lysine Approved Nutra Target 187
Adenosine monophosphate Approved, Investigational Nutra 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0

(8) Additional Compounds for KARS1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
 14000-31-8
genes like me logo Genes that share compounds with KARS1: view

Transcripts for KARS1 Gene

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mRNA/cDNA for KARS1 Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KARS1

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for KARS1 Gene

No ASD Table

Relevant External Links for KARS1 Gene

GeneLoc Exon Structure for
KARS1

Expression for KARS1 Gene

Products:

  1. Primer products for research

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KARS1

SOURCE GeneReport for Unigene cluster for KARS1 Gene:

Hs.3100

Evidence on tissue expression from TISSUES for KARS1 Gene

  • Nervous system(4.9)
  • Bone marrow(4.6)
  • Eye(3.7)
  • Skin(3.6)
  • Intestine(3.5)
  • Lung(3.5)
  • Lymph node(3.3)
  • Spleen(3.3)
  • Adrenal gland(3.2)
  • Stomach(3.2)
  • Kidney(3)
  • Gall bladder(2.9)
  • Pancreas(2.9)
  • Muscle(2.7)
  • Blood(2.5)
  • Liver(2.4)
  • Heart(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KARS1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
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
No Expression Related Data Available

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for KARS1 Gene

Orthologs for KARS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for KARS1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia KARS 29 30
  • 99.63 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia KARS 29 30
  • 91.25 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia KARS 29 30
  • 90.8 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Kars 29 16 30
  • 88.78 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Kars 29
  • 88.43 (n)
Oppossum
(Monodelphis domestica)
 Mammalia -- 30
  • 88 (a)
 OneToMany
-- 30
  • 83 (a)
 OneToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia KARS 30
  • 87 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves KARS 29 30
  • 77.17 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia KARS 30
  • 74 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia kars 29
  • 75.28 (n)
Str.3042 29
Zebrafish
(Danio rerio)
 Actinopterygii kars 29 30
  • 74.97 (n)
 OneToOne
Dr.28209 29
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP000325 29
  • 64.91 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta Aats-lys 29 30
  • 63.83 (n)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea kars-1 29 30
  • 60.66 (n)
 OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_AGR037C 29
  • 58.91 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0F18392g 29
  • 58.85 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes KRS1 29 30 32
  • 58.85 (n)
 OneToOne
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons ATKRS-1 29
  • 60.26 (n)
Rice
(Oryza sativa)
 Liliopsida Os03g0586800 29
  • 61.05 (n)
Barley
(Hordeum vulgare)
 Liliopsida Hv.10812 29
Wheat
(Triticum aestivum)
 Liliopsida Ta.4293 29
Corn
(Zea mays)
 Liliopsida Zm.6555 29
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 73 (a)
 OneToMany
CSA.665 30
  • 68 (a)
 OneToMany
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes krs1 29
  • 58.81 (n)
Bread mold
(Neurospora crassa)
 Ascomycetes NCU04020 29
  • 55.78 (n)
Species where no ortholog for KARS1 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 Vase (Ciona intestinalis)
  • 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 KARS1 Gene

ENSEMBL:
Gene Tree for KARS1 (if available)
TreeFam:
Gene Tree for KARS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KARS1: view image
Alliance of Genome Resources:
Additional Orthologs for KARS1

Paralogs for KARS1 Gene

Paralogs for KARS1 Gene

Pseudogenes.org Pseudogenes for KARS1 Gene

genes like me logo Genes that share paralogs with KARS1: view

Variants for KARS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KARS1 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
930074 Uncertain Significance: not specified 75,627,951(-) CCTT/C
NM_005548.3(KARS1):c.1732AAG[1] (p.Lys579del) 		INFRAME_DELETION
985748 Likely Pathogenic: Inborn genetic diseases 75,628,588(-) G/A
NM_005548.3(KARS1):c.1676C>T (p.Thr559Met) 		MISSENSE
993573 Uncertain Significance: none provided 75,631,792(-) T/C
NM_005548.3(KARS1):c.979A>G (p.Ile327Val) 		MISSENSE
997976 Pathogenic: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS 75,631,194(-) G/A
NM_005548.3(KARS1):c.1312C>T (p.Arg438Trp) 		MISSENSE
997977 Pathogenic: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS 75,628,691(-) C/T
NM_005548.3(KARS1):c.1573G>A (p.Glu525Lys) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KARS1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for KARS1 Gene

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

Variation tolerance for KARS1 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)

Additional Variant Information for KARS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KARS1
Leiden Open Variation Database (LOVD)
KARS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KARS1 Gene

Disorders for KARS1 Gene

MalaCards: The human disease database

(39) MalaCards diseases for KARS1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search KARS1 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 variants 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, ECO:0000269 PubMed:28887846}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for KARS1

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with KARS1: view

No data available for Genatlas for KARS1 Gene

Publications for KARS1 Gene

  1. 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 72
  2. 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
  3. Mutations in KARS cause early-onset hearing loss and leukoencephalopathy: Potential pathogenic mechanism. (PMID: 28887846) Zhou XL … Yang T (Human mutation 2017) 3 4 72
  4. Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. (PMID: 20920668) McLaughlin HM … Antonellis A (American journal of human genetics 2010) 3 4 72
  5. 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

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