Details for: KARS1

Gene ID: 3735

Symbol: KARS1

Ensembl ID: ENSG00000065427

Description: lysyl-tRNA synthetase 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 3.22
    Marker Score: 2870
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 2.47
    Marker Score: 5205
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 1.93
    Marker Score: 7893
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 1.93
    Marker Score: 2010
  • Cell Name: follicular B cell (CL0000843)
    Fold Change: 1.87
    Marker Score: 2030
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 1.85
    Marker Score: 1241
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 1.79
    Marker Score: 3735
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.78
    Marker Score: 6982
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 1.68
    Marker Score: 893
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 1.66
    Marker Score: 22320
  • Cell Name: effector memory CD4-positive, alpha-beta T cell (CL0000905)
    Fold Change: 1.61
    Marker Score: 1181
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.61
    Marker Score: 6945
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.61
    Marker Score: 1702
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 1.59
    Marker Score: 2701
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.58
    Marker Score: 3603
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.54
    Marker Score: 1031
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.54
    Marker Score: 3751.5
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.51
    Marker Score: 2231
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 1.51
    Marker Score: 1617
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 1.5
    Marker Score: 1512
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 1.5
    Marker Score: 1178
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.45
    Marker Score: 166480
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.44
    Marker Score: 978
  • Cell Name: stem cell (CL0000034)
    Fold Change: 1.41
    Marker Score: 3340
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 1.37
    Marker Score: 516
  • Cell Name: T-helper 1 cell (CL0000545)
    Fold Change: 1.35
    Marker Score: 526
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.34
    Marker Score: 2366
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 1.33
    Marker Score: 1253
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.32
    Marker Score: 5080
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 1.31
    Marker Score: 3088
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 1.3
    Marker Score: 10183
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 1.3
    Marker Score: 3588
  • Cell Name: mature B cell (CL0000785)
    Fold Change: 1.29
    Marker Score: 947
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 1.29
    Marker Score: 302
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 1.28
    Marker Score: 1439
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.27
    Marker Score: 1829
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.26
    Marker Score: 10889
  • Cell Name: cord blood hematopoietic stem cell (CL2000095)
    Fold Change: 1.25
    Marker Score: 946
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 1.23
    Marker Score: 495
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 1.23
    Marker Score: 1632
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 1.23
    Marker Score: 5882
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 1.21
    Marker Score: 605
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 1.21
    Marker Score: 3288
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 1.21
    Marker Score: 806
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 1.19
    Marker Score: 751.5
  • Cell Name: mature T cell (CL0002419)
    Fold Change: 1.19
    Marker Score: 11740
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 1.18
    Marker Score: 339
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 1.18
    Marker Score: 30099
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 1.17
    Marker Score: 617
  • Cell Name: B-1 B cell (CL0000819)
    Fold Change: 1.17
    Marker Score: 2033
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 1.16
    Marker Score: 1244
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.15
    Marker Score: 1197
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 1.15
    Marker Score: 1774
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.15
    Marker Score: 275
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.14
    Marker Score: 630
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 1.14
    Marker Score: 1928
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 1.13
    Marker Score: 710
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 1.13
    Marker Score: 1817
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 1.12
    Marker Score: 1059
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 1.12
    Marker Score: 1000
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.12
    Marker Score: 710
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.1
    Marker Score: 11192
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 1.1
    Marker Score: 782
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 1.1
    Marker Score: 543.5
  • Cell Name: blood cell (CL0000081)
    Fold Change: 1.1
    Marker Score: 12746
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 1.09
    Marker Score: 366
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.08
    Marker Score: 1360
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 1.08
    Marker Score: 1525
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 1.08
    Marker Score: 266
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 1.07
    Marker Score: 14165
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 1.07
    Marker Score: 1706
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 1.07
    Marker Score: 9274
  • Cell Name: T-helper 17 cell (CL0000899)
    Fold Change: 1.06
    Marker Score: 698
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 1.06
    Marker Score: 496
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 1.06
    Marker Score: 3650
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 1.06
    Marker Score: 500
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 1.06
    Marker Score: 793
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: 1.05
    Marker Score: 515
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 1.05
    Marker Score: 1918
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.05
    Marker Score: 965
  • Cell Name: muscle cell (CL0000187)
    Fold Change: 1.05
    Marker Score: 297
  • Cell Name: unswitched memory B cell (CL0000970)
    Fold Change: 1.05
    Marker Score: 614
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 1.05
    Marker Score: 361
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 1.04
    Marker Score: 510
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 1.04
    Marker Score: 710
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 1.04
    Marker Score: 204
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 1.04
    Marker Score: 593
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 1.03
    Marker Score: 706
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 1.03
    Marker Score: 1935
  • Cell Name: mucus secreting cell (CL0000319)
    Fold Change: 1.03
    Marker Score: 261
  • Cell Name: IgG plasmablast (CL0000982)
    Fold Change: 1.02
    Marker Score: 282
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 1.02
    Marker Score: 205
  • Cell Name: bronchial epithelial cell (CL0002328)
    Fold Change: 1.02
    Marker Score: 269
  • Cell Name: starburst amacrine cell (CL0004232)
    Fold Change: 1.01
    Marker Score: 288
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 1.01
    Marker Score: 481
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.01
    Marker Score: 11388
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 1
    Marker Score: 2866
  • Cell Name: Unknown (CL0002371)
    Fold Change: 1
    Marker Score: 1065
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 1
    Marker Score: 687
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1
    Marker Score: 1078

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Other Information

**Key characteristics** * The KARS1 gene is located on chromosome 17q21.1. * It is a large gene with a length of approximately 14,000 base pairs. * The protein encoded by KARS1 is a transmembrane protein with a molecular weight of approximately 150 kDa. * KARS1 is expressed in a variety of cell types, including extravillous trophoblast, pancreatic acinar cell, pro-T cell, erythroid progenitor cell, follicular B cell, skeletal muscle satellite cell, epithelial cell of nephron, placental villous trophoblast, enteric neuron, and malignant cell. **Pathways and functions** * KARS1 is involved in the translation of mRNA through a process called amino acid binding. * It synthesizes lysyl residues on the amino acid methionine during translation. * KARS1 is also involved in the regulation of protein synthesis. * It binds to the amino acid methionine and catalyzes the formation of a peptide bond between the methionine residue and a tRNA molecule carrying an amino acid residue. * This process is essential for the initiation of protein synthesis and the synthesis of all proteins in the cell. **Clinical significance** Mutations in the KARS1 gene have been linked to a number of human diseases, including lysosomal disorders, developmental disorders, and cancer. These diseases are caused by mutations in genes that are involved in the synthesis of lysyl residues in proteins.

Genular Protein ID: 823821768

Symbol: SYK_HUMAN

Name: Lysine--tRNA ligase

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 9278442

Title: Human lysyl-tRNA synthetase accepts nucleotide 73 variants and rescues Escherichia coli double-defective mutant.

PubMed ID: 9278442

DOI: 10.1074/jbc.272.36.22809

PubMed ID: 10952987

Title: The human lysyl-tRNA synthetase gene encodes both the cytoplasmic and mitochondrial enzymes by means of an unusual alternative splicing of the primary transcript.

PubMed ID: 10952987

DOI: 10.1074/jbc.m006265200

PubMed ID: 7584044

Title: Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1.

PubMed ID: 7584044

DOI: 10.1093/dnares/1.5.223

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 5338216

Title: Enzymatic synthesis of diadenosine tetraphosphate and diadenosine triphosphate with a purified lysyl-tRNA synthetase.

PubMed ID: 5338216

DOI: 10.1016/0006-291x(66)90415-3

PubMed ID: 9878398

Title: Macromolecular assemblage of aminoacyl-tRNA synthetases: identification of protein-protein interactions and characterization of a core protein.

PubMed ID: 9878398

DOI: 10.1006/jmbi.1998.2316

PubMed ID: 14659874

Title: The telomeric protein Rap1 is conserved in vertebrates and is expressed from a bidirectional promoter positioned between the Rap1 and KARS genes.

PubMed ID: 14659874

DOI: 10.1016/j.gene.2003.08.026

PubMed ID: 14975237

Title: The function of lysyl-tRNA synthetase and Ap4A as signaling regulators of MITF activity in FcepsilonRI-activated mast cells.

PubMed ID: 14975237

DOI: 10.1016/s1074-7613(04)00020-2

PubMed ID: 12756246

Title: The interaction between HIV-1 Gag and human lysyl-tRNA synthetase during viral assembly.

PubMed ID: 12756246

DOI: 10.1074/jbc.m301840200

PubMed ID: 15220430

Title: Cellular distribution of Lysyl-tRNA synthetase and its interaction with Gag during human immunodeficiency virus type 1 assembly.

PubMed ID: 15220430

DOI: 10.1128/jvi.78.14.7553-7564.2004

PubMed ID: 15851690

Title: Human lysyl-tRNA synthetase is secreted to trigger proinflammatory response.

PubMed ID: 15851690

DOI: 10.1073/pnas.0500226102

PubMed ID: 18029264

Title: Lysyl-tRNA synthetase interacts with EF1alpha, aspartyl-tRNA synthetase and p38 in vitro.

PubMed ID: 18029264

DOI: 10.1016/j.bbrc.2007.11.028

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19131329

Title: Dissection of the structural organization of the aminoacyl-tRNA synthetase complex.

PubMed ID: 19131329

DOI: 10.1074/jbc.m809636200

PubMed ID: 19289464

Title: Dynamic Organization of Aminoacyl-tRNA Synthetase Complexes in the Cytoplasm of Human Cells.

PubMed ID: 19289464

DOI: 10.1074/jbc.m900480200

PubMed ID: 19524539

Title: LysRS serves as a key signaling molecule in the immune response by regulating gene expression.

PubMed ID: 19524539

DOI: 10.1016/j.molcel.2009.05.019

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 24312579

Title: Reinvestigation of aminoacyl-tRNA synthetase core complex by affinity purification-mass spectrometry reveals TARSL2 as a potential member of the complex.

PubMed ID: 24312579

DOI: 10.1371/journal.pone.0081734

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 18272479

Title: Crystal structure of tetrameric form of human lysyl-tRNA synthetase: Implications for multisynthetase complex formation.

PubMed ID: 18272479

DOI: 10.1073/pnas.0712072105

PubMed ID: 23159739

Title: Structural switch of lysyl-tRNA synthetase between translation and transcription.

PubMed ID: 23159739

DOI: 10.1016/j.molcel.2012.10.010

PubMed ID: 26074468

Title: Structural Basis for Specific Inhibition of tRNA Synthetase by an ATP Competitive Inhibitor.

PubMed ID: 26074468

DOI: 10.1016/j.chembiol.2015.05.007

PubMed ID: 20920668

Title: Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.

PubMed ID: 20920668

DOI: 10.1016/j.ajhg.2010.09.008

PubMed ID: 23768514

Title: Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89.

PubMed ID: 23768514

DOI: 10.1016/j.ajhg.2013.05.018

PubMed ID: 25330800

Title: Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease.

PubMed ID: 25330800

DOI: 10.1177/0883073814553272

PubMed ID: 27891585

Title: Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect.

PubMed ID: 27891585

DOI: 10.1111/cge.12931

PubMed ID: 28887846

Title: Mutations in KARS cause early-onset hearing loss and leukoencephalopathy: Potential pathogenic mechanism.

PubMed ID: 28887846

DOI: 10.1002/humu.23335

PubMed ID: 30252186

Title: Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis.

PubMed ID: 30252186

DOI: 10.1002/humu.23657

PubMed ID: 29615062

Title: KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.

PubMed ID: 29615062

DOI: 10.1186/s13023-018-0788-4

PubMed ID: 30715177

Title: Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy.

PubMed ID: 30715177

DOI: 10.1093/brain/awz001

PubMed ID: 31116475

Title: Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy.

PubMed ID: 31116475

DOI: 10.1002/humu.23799

PubMed ID: 30737337

Title: Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy.

PubMed ID: 30737337

DOI: 10.1212/wnl.0000000000007098

Sequence Information:

  • Length: 597
  • Mass: 68048
  • Checksum: E7770953332D905D
  • Sequence:
  • MAAVQAAEVK VDGSEPKLSK NELKRRLKAE KKVAEKEAKQ KELSEKQLSQ ATAAATNHTT 
    DNGVGPEEES VDPNQYYKIR SQAIHQLKVN GEDPYPHKFH VDISLTDFIQ KYSHLQPGDH 
    LTDITLKVAG RIHAKRASGG KLIFYDLRGE GVKLQVMANS RNYKSEEEFI HINNKLRRGD 
    IIGVQGNPGK TKKGELSIIP YEITLLSPCL HMLPHLHFGL KDKETRYRQR YLDLILNDFV 
    RQKFIIRSKI ITYIRSFLDE LGFLEIETPM MNIIPGGAVA KPFITYHNEL DMNLYMRIAP 
    ELYHKMLVVG GIDRVYEIGR QFRNEGIDLT HNPEFTTCEF YMAYADYHDL MEITEKMVSG 
    MVKHITGSYK VTYHPDGPEG QAYDVDFTPP FRRINMVEEL EKALGMKLPE TNLFETEETR 
    KILDDICVAK AVECPPPRTT ARLLDKLVGE FLEVTCINPT FICDHPQIMS PLAKWHRSKE 
    GLTERFELFV MKKEICNAYT ELNDPMRQRQ LFEEQAKAKA AGDDEAMFID ENFCTALEYG 
    LPPTAGWGMG IDRVAMFLTD SNNIKEVLLF PAMKPEDKKE NVATTDTLES TTVGTSV

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.