• Gene id: 3735

Gene Summary

• Gene Symbol: KARS1   Gene   UCSC   Ensembl
• Aliases: CMTRIB, DFNB89, KARS, KARS2, KRS
• Gene name: lysyl-tRNA synthetase 1
• Alternate names: lysine--tRNA ligase, lysRS, lysine tRNA ligase,
• Gene location: 16q23.1 (33480008: 33432485)     Exons: 10     NC_000021.9
• Gene summary(Entrez): 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
• OMIM: 601421

Protein Summary

• Protein general information: Q15046  
  • Name: Lysine tRNA ligase (EC 2.7.7. ) (EC 6.1.1.6) (Lysyl tRNA synthetase) (LysRS)
  • Length: 597  
  • Mass: 68048
• Sequence:

  MAAVQAAEVKVDGSEPKLSKNELKRRLKAEKKVAEKEAKQKELSEKQLSQATAAATNHTTDNGVGPEEESVDPNQ
  YYKIRSQAIHQLKVNGEDPYPHKFHVDISLTDFIQKYSHLQPGDHLTDITLKVAGRIHAKRASGGKLIFYDLRGE
  GVKLQVMANSRNYKSEEEFIHINNKLRRGDIIGVQGNPGKTKKGELSIIPYEITLLSPCLHMLPHLHFGLKDKET
  RYRQRYLDLILNDFVRQKFIIRSKIITYIRSFLDELGFLEIETPMMNIIPGGAVAKPFITYHNELDMNLYMRIAP
  ELYHKMLVVGGIDRVYEIGRQFRNEGIDLTHNPEFTTCEFYMAYADYHDLMEITEKMVSGMVKHITGSYKVTYHP
  DGPEGQAYDVDFTPPFRRINMVEELEKALGMKLPETNLFETEETRKILDDICVAKAVECPPPRTTARLLDKLVGE
  FLEVTCINPTFICDHPQIMSPLAKWHRSKEGLTERFELFVMKKEICNAYTELNDPMRQRQLFEEQAKAKAAGDDE
  AMFIDENFCTALEYGLPPTAGWGMGIDRVAMFLTDSNNIKEVLLFPAMKPEDKKENVATTDTLESTTVGTSV

• Structural information:
  • Interpro: IPR004364  IPR006195  IPR002313  IPR034762  IPR018149   IPR012340  IPR004365  
  • Prosite: PS50862
  • CDD: cd00775
  • PDB: 3BJU 4DPG 4YCU 4YCW 6CHD 6ILD 6ILH
  • PDBsum: 3BJU 4DPG 4YCU 4YCW 6CHD 6ILD 6ILH
  • DIP: 29725
  • STRING: ENSP00000325448
• Other Databases: GeneCards:  KARS1  Malacards:  KARS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000049	tRNA binding	IBA	molecular function
GO:0000187	activation of MAPK activity	IBA	biological process
GO:0004824	lysine-tRNA ligase activity	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0005829	cytosol	IBA	cellular component
GO:0017101	aminoacyl-tRNA synthetase multienzyme complex	IBA	cellular component
GO:0033209	tumor necrosis factor-mediated signaling pathway	IBA	biological process
GO:0002276	basophil activation involved in immune response	IBA	biological process
GO:0003877	ATP adenylyltransferase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005739	mitochondrion	IBA	cellular component
GO:0006430	lysyl-tRNA aminoacylation	IBA	biological process
GO:0015966	diadenosine tetraphosphate biosynthetic process	IBA	biological process
GO:0043032	positive regulation of macrophage activation	IBA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0017101	aminoacyl-tRNA synthetase multienzyme complex	IDA	cellular component
GO:0004824	lysine-tRNA ligase activity	IDA	molecular function
GO:0004824	lysine-tRNA ligase activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0006430	lysyl-tRNA aminoacylation	IDA	biological process
GO:0015966	diadenosine tetraphosphate biosynthetic process	IDA	biological process
GO:0003877	ATP adenylyltransferase activity	IDA	molecular function
GO:0006430	lysyl-tRNA aminoacylation	IDA	biological process
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004812	aminoacyl-tRNA ligase activity	IEA	molecular function
GO:0004824	lysine-tRNA ligase activity	IEA	molecular function
GO:0006418	tRNA aminoacylation for protein translation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006430	lysyl-tRNA aminoacylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0006412	translation	IEA	biological process
GO:0004812	aminoacyl-tRNA ligase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0016874	ligase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0004824	lysine-tRNA ligase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006418	tRNA aminoacylation for protein translation	TAS	biological process
GO:0006418	tRNA aminoacylation for protein translation	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070371	ERK1 and ERK2 cascade	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0017101	aminoacyl-tRNA synthetase multienzyme complex	IEA	cellular component
GO:0016597	amino acid binding	IEA	molecular function
GO:0010165	response to X-ray	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0004824	lysine-tRNA ligase activity	IEA	molecular function
GO:0000049	tRNA binding	IEA	molecular function
GO:0015966	diadenosine tetraphosphate biosynthetic process	IEA	biological process
GO:0006430	lysyl-tRNA aminoacylation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0002276	basophil activation involved in immune response	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0002741	positive regulation of cytokine production involved in immune response	IDA	biological process
GO:0008285	negative regulation of cell population proliferation	IDA	biological process
GO:0043032	positive regulation of macrophage activation	IDA	biological process
GO:1900017	positive regulation of cytokine production involved in inflammatory response	IDA	biological process
GO:0070371	ERK1 and ERK2 cascade	IGI	biological process
GO:1900745	positive regulation of p38MAPK cascade	IDA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IGI	biological process
GO:0002276	basophil activation involved in immune response	IGI	biological process
GO:0015966	diadenosine tetraphosphate biosynthetic process	IGI	biological process
GO:1905050	positive regulation of metallopeptidase activity	IDA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IDA	biological process
GO:0000187	activation of MAPK activity	IDA	biological process
GO:0010759	positive regulation of macrophage chemotaxis	IDA	biological process
GO:0033209	tumor necrosis factor-mediated signaling pathway	IDA	biological process
GO:0004824	lysine-tRNA ligase activity	IDA	molecular function
GO:0006430	lysyl-tRNA aminoacylation	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0008033	tRNA processing	NAS	biological process
GO:0000049	tRNA binding	NAS	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa00970	Aminoacyl-tRNA biosynthesis

Diseases

Associated diseases	References
Deafness, autosomal recessive	KEGG:H00605
Charcot-Marie-Tooth disease	KEGG:H00264
Deafness, autosomal recessive	KEGG:H00605
Charcot-Marie-Tooth disease	KEGG:H00264
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq