LARS1 - leucyl-tRNA synthetase 1 Gene

Also Known as LRS; LARS; LEUS; LFIS; ILFS1; LEURS; PIG44; RNTLS; HSPC192; hr025Cl

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51520

About LARS1

Cytogenetic location: 5q32 Genomic coordinates (GRCh38): 5:146,113,034-146,182,650 (from NCBI)

This gene has 32 transcripts (splice variants), 207 orthologues, 7 paralogues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 24.0), brain (RPKM 19.6) and 25 other tissues.

Summary

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 complex and interacts with the arginine tRNA synthetase through its C-terminal domain. A mutation in this gene was found in affected individuals with infantile liver failure syndrome 1. Alternatively spliced transcript variants of this gene have been observed. [provided by RefSeq, Dec 2015]

LARS1 Products (4)

mRNA	Protein	Name
NM_001317964.2	NP_001304893.1	leucine--tRNA ligase, cytoplasmic isoform 3
NM_001317965.2	NP_001304894.1	leucine--tRNA ligase, cytoplasmic isoform 4
NM_016460.4	NP_057544.2	leucine--tRNA ligase, cytoplasmic isoform 2
NM_020117.11	NP_064502.9	leucine--tRNA ligase, cytoplasmic isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables GTPase activator activity	IMP IMP: Inferred from mutant phenotype	22424946	GOA
enables aminoacyl-tRNA editing activity	IDA IDA: Inferred from direct assay	25051973	GOA
enables glutamine-tRNA ligase activity	IDA IDA: Inferred from direct assay	26869582	GOA
enables leucine-tRNA ligase activity	IDA IDA: Inferred from direct assay	25051973	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16055448	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular response to L-leucine	IMP IMP: Inferred from mutant phenotype	22424946	GOA
involved in cellular response to amino acid starvation	IMP IMP: Inferred from mutant phenotype	22424946	GOA
involved in cellular response to amino acid stimulus	IMP IMP: Inferred from mutant phenotype	22424946	GOA
involved in cellular response to leucine starvation	IMP IMP: Inferred from mutant phenotype	22424946	GOA
involved in glutaminyl-tRNA aminoacylation	IDA IDA: Inferred from direct assay	26869582	GOA
involved in leucyl-tRNA aminoacylation	IDA IDA: Inferred from direct assay	25051973	GOA
involved in positive regulation of GTPase activity	IMP IMP: Inferred from mutant phenotype	22424946	GOA
involved in positive regulation of TOR signaling	IMP IMP: Inferred from mutant phenotype	22424946	GOA
involved in positive regulation of TORC1 signaling	IMP IMP: Inferred from mutant phenotype	22424946	GOA
involved in regulation of cell size	IMP IMP: Inferred from mutant phenotype	22424946	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of aminoacyl-tRNA synthetase multienzyme complex	IDA IDA: Inferred from direct assay	19131329	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	22424946	GOA
located in cytosol	IDA IDA: Inferred from direct assay	19289464	GOA
located in endomembrane system	IDA IDA: Inferred from direct assay	22424946	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	22424946	GOA
located in lysosome	IMP IMP: Inferred from mutant phenotype	22424946	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LARS1 Protein Structure

tRNA-synt_1

Anticodon_1

0
200
400
600
800
1000
1176 a.a.

Protein Preferred Names	Protein Names
leucine--tRNA ligase, cytoplasmic	cytoplasmic leucyl-tRNA synthetase

LARS1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	LARS1	Q9P2J5	RPTOR	Homo sapiens	Q8N122	Anti Tag CoIP	22424946
Intra	LARS1	Q9P2J5	RARS1	Homo sapiens	P54136	Anti Tag CoIP	33961781
Intra	LARS1	Q9P2J5	RARS1	Homo sapiens	P54136	Anti Tag CoIP	16055448
Intra	LARS1	Q9P2J5	RRAGD	Homo sapiens	Q9NQL2	Pull Down	22424946

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Infantile Liver Failure Syndrome 1	ILFS1 Acute Infantile Liver Failure-Multisystemic Involvement Syndrome Liver Failure Syndrome, Infantile, Type 1 Liver Failure
Infantile Liver Failure Syndrome	Infantile Liver Failure
Liver Failure, Infantile, Transient	Acute Infantile Liver Failure Due To Synthesis Defect Of Mtdna-Encoded Proteins Transient Infantile Liver Failure LFIT Acute Infantile Liver Failure Acute Infantile Liver Failure Due To Synthesis Defect Of Mitochondrial Dna-Encoded Proteins Liver Failure, Transient Infantile Acute Infantile Liver Failure Due To Mtdna-Encoded Proteins Synthesis Defect Liver Failure, Acute Infantile Failure, Liver, Transient, Infantile
Supine Hypotensive Syndrome	Maternal Hypotension Syndrome Antepartum Maternal Hypotension Syndrome Postpartum Maternal Hypotension Syndrome Maternal Hypotension Syndrome, Antepartum Condition Or Complication Maternal Hypotension Syndrome, Postpartum Condition Or Complication Maternal Hypotension Syndrome, Unspecified Trimester
Cecum Lymphoma	Cecal Lymphoma
Tremor, Hereditary Essential, 2	ETM2 Essential Tremor 2 Essential Tremor, Hereditary, 2 Hereditary Essential Tremor 2 Tremor Hereditary Essential, 2
Fetishism	Fetishism, Psychiatric
Multidrug-Resistant Tuberculosis	Tuberculosis, Multidrug-Resistant Tuberculosis Multidrug-Resistant
Meckel'S Diverticulitis	Meckel Diverticulitis
Sleeping Sickness	African Trypanosomiasis African Sleeping Sickness Trypanosomiasis, Human East-African Trypanosomiasis, East African Trypanosomiasis African Trypanosomiasis, African Human African Trypanosomiasis
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Merrf Syndrome MERRF Fukuhara Syndrome Myoclonic Epilepsy Associated With Ragged Red Fibers Myoencephalopathy Ragged-Red Fiber Disease Myoclonic Epilepsy - Ragged Red Fibers Myoclonus Epilepsy And Ragged Red Fibers Myoclonus With Epilepsy And With Ragged Red Fibers Myoclonic Epilepsy With Ragged Red Fibers Myoclonic Epilepsy With Ragged-Red Fibers Fukuhara Disease Myoclonus Epilepsy Associated With Ragged-Red Fibres Myoclonus With Epilepsy With Ragged Red Fibers

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS07532	LARS1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21627	Lars1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28145	Lars1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	LARS1	VGNC	VGNC:84403
Rattus norvegicus	LARS1	RGD	RGD:1304962
Mus musculus	LARS1	MGD	MGI:1913808
Bos taurus	LARS1	VGNC	VGNC:30795
Canis familiaris	LARS1	VGNC	VGNC:42592
Felis catus	LARS1	VGNC	VGNC:68020
Others	LARS1	NCBI