• Gene id: 51520

Gene Summary

• Gene Symbol: LARS1   Gene   UCSC   Ensembl
• Aliases: HSPC192, ILFS1, LARS, LEURS, LEUS, LFIS, LRS, PIG44, RNTLS, hr025Cl
• Gene name: leucyl-tRNA synthetase 1
• Alternate names: leucine--tRNA ligase, cytoplasmic, cytoplasmic leucyl-tRNA synthetase, cytosolic leucyl-tRNA synthetase, leucine tRNA ligase 1, cytoplasmic, leucine translase, proliferation-inducing gene 44,
• Gene location: 5q32 (146182786: 146113025)     Exons: 32     NC_000005.10
• Gene summary(Entrez): This gene encodes a cytosolic leucine-tRNA synthetase, a member of the class I aminoacyl-tRNA synthetase family. The encoded enzyme catalyzes the ATP-dependent ligation of L-leucine to tRNA(Leu). It is found in the cytoplasm as part of a multisynthetase c
• OMIM: 151350

Protein Summary

• Protein general information: Q9P2J5  
  • Name: Leucine tRNA ligase, cytoplasmic (EC 6.1.1.4) (Leucyl tRNA synthetase) (LeuRS)
  • Length: 1176  
  • Mass: 134466
• Sequence:

  MAERKGTAKVDFLKKIEKEIQQKWDTERVFEVNASNLEKQTSKGKYFVTFPYPYMNGRLHLGHTFSLSKCEFAVG
  YQRLKGKCCLFPFGLHCTGMPIKACADKLKREIELYGCPPDFPDEEEEEEETSVKTEDIIIKDKAKGKKSKAAAK
  AGSSKYQWGIMKSLGLSDEEIVKFSEAEHWLDYFPPLAIQDLKRMGLKVDWRRSFITTDVNPYYDSFVRWQFLTL
  RERNKIKFGKRYTIYSPKDGQPCMDHDRQTGEGVGPQEYTLLKLKVLEPYPSKLSGLKGKNIFLVAATLRPETMF
  GQTNCWVRPDMKYIGFETVNGDIFICTQKAARNMSYQGFTKDNGVVPVVKELMGEEILGASLSAPLTSYKVIYVL
  PMLTIKEDKGTGVVTSVPSDSPDDIAALRDLKKKQALRAKYGIRDDMVLPFEPVPVIEIPGFGNLSAVTICDELK
  IQSQNDREKLAEAKEKIYLKGFYEGIMLVDGFKGQKVQDVKKTIQKKMIDAGDALIYMEPEKQVMSRSSDECVVA
  LCDQWYLDYGEENWKKQTSQCLKNLETFCEETRRNFEATLGWLQEHACSRTYGLGTHLPWDEQWLIESLSDSTIY
  MAFYTVAHLLQGGNLHGQAESPLGIRPQQMTKEVWDYVFFKEAPFPKTQIAKEKLDQLKQEFEFWYPVDLRVSGK
  DLVPNHLSYYLYNHVAMWPEQSDKWPTAVRANGHLLLNSEKMSKSTGNFLTLTQAIDKFSADGMRLALADAGDTV
  EDANFVEAMADAGILRLYTWVEWVKEMVANWDSLRSGPASTFNDRVFASELNAGIIKTDQNYEKMMFKEALKTGF
  FEFQAAKDKYRELAVEGMHRELVFRFIEVQTLLLAPFCPHLCEHIWTLLGKPDSIMNASWPVAGPVNEVLIHSSQ
  YLMEVTHDLRLRLKNYMMPAKGKKTDKQPLQKPSHCTIYVAKNYPPWQHTTLSVLRKHFEANNGKLPDNKVIASE
  LGSMPELKKYMKKVMPFVAMIKENLEKMGPRILDLQLEFDEKAVLMENIVYLTNSLELEHIEVKFASEAEDKIRE
  DCCPGKPLNVFRIEPGVSVSLVNPQPSNGHFSTKIEIRQGDNCDSIIRRLMKMNRGIKDLSKVKLMRFDDPLLGP
  RRVPVLGKEYTEKTPISEHAVFNVDLMSKKIHLTENGIRVDIGDTIIYLVH

• Structural information:
  • Interpro: IPR001412  IPR002300  IPR004493  IPR013155  IPR009080   IPR009008  
  • Prosite: PS00178
  • PDB: 2WFD
  • PDBsum: 2WFD
  • STRING: ENSP00000377954
• Other Databases: GeneCards:  LARS1  Malacards:  LARS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006429	leucyl-tRNA aminoacylation	IBA	biological process
GO:0004823	leucine-tRNA ligase activity	IBA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0004819	glutamine-tRNA ligase activity	IDA	molecular function
GO:0006425	glutaminyl-tRNA aminoacylation	IDA	biological process
GO:0017101	aminoacyl-tRNA synthetase multienzyme complex	IDA	cellular component
GO:0002161	aminoacyl-tRNA editing activity	IEA	molecular function
GO:0004812	aminoacyl-tRNA ligase activity	IEA	molecular function
GO:0004823	leucine-tRNA ligase activity	IEA	molecular function
GO:0006418	tRNA aminoacylation for protein translation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006429	leucyl-tRNA aminoacylation	IEA	biological process
GO:0004812	aminoacyl-tRNA ligase activity	IEA	molecular function
GO:0006412	translation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016874	ligase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0004823	leucine-tRNA ligase activity	IEA	molecular function
GO:0004823	leucine-tRNA ligase activity	TAS	molecular function
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: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:0017101	aminoacyl-tRNA synthetase multienzyme complex	IEA	cellular component
GO:0004823	leucine-tRNA ligase activity	IEA	molecular function
GO:0006429	leucyl-tRNA aminoacylation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0106074	aminoacyl-tRNA metabolism involved in translational fidelity	IEA	biological process
GO:1990253	cellular response to leucine starvation	IMP	biological process
GO:0008361	regulation of cell size	IMP	biological process
GO:0005764	lysosome	IMP	cellular component
GO:0043547	positive regulation of GTPase activity	IMP	biological process
GO:1904263	positive regulation of TORC1 signaling	IMP	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005096	GTPase activator activity	IMP	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0032008	positive regulation of TOR signaling	IMP	biological process
GO:0071230	cellular response to amino acid stimulus	IMP	biological process
GO:0071233	cellular response to leucine	IMP	biological process
GO:0034198	cellular response to amino acid starvation	IMP	biological process
GO:0012505	endomembrane system	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa00970	Aminoacyl-tRNA biosynthesis

Diseases

Associated diseases	References
Infantile liver failure	KEGG:H01367
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)