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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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LARS1
leucyl-tRNA synthetase 1
Chromosome 5 Β· 5q32
NCBI Gene: 51520Ensembl: ENSG00000133706.20HGNC: HGNC:6512UniProt: A0A6I8PL42
210PubMed Papers
21Diseases
0Drugs
29Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
lysosomecytosolendomembrane systemaminoacyl-tRNA synthetase multienzyme complexinfantile liver failure syndrome 1acute infantile liver failure due to synthesis defect of mtDNA-encoded proteinsAcute infantile liver failure-multisystemic involvement syndromeGlobal developmental delay
✦AI Summary

LARS1 (leucyl-tRNA synthetase 1) is an aminoacyl-tRNA synthetase that catalyzes the ATP-dependent attachment of leucine to its cognate tRNA(Leu) through a two-step reaction involving leucyl-adenylate intermediate formation 1. Beyond its canonical protein synthesis role, LARS1 functions as a crucial nutrient sensor integrating leucine and glucose availability to regulate mTORC1 signaling. Under glucose starvation, LARS1 undergoes O-GlcNAcylation at S1042, which promotes ULK1-mediated phosphorylation at leucine-binding sites, reducing leucine affinity and mTORC1 activity while redirecting leucine toward catabolic energy production 23. LARS1 also regulates autophagy and lipophagy through mTORC1 activation 45. Disease associations include infantile liver failure syndrome 1, characterized by developmental delay, seizures, and encephalopathic episodes with characteristic MRI patterns showing deep gray matter and brainstem changes 67. LARS1 dysfunction contributes to cancer progression through multiple mechanisms, including chemoresistance via impaired N-glycosylation 8 and oncogenic signaling in ovarian cancer 9. Additionally, LARS1 lactylation promotes podocyte injury in diabetic kidney disease by inhibiting autophagy 4, while LARS1 deficiency ameliorates chr5 kidney disease by reducing lipid accumulation and fibrosis 5.

Sources cited
1
LARS1 catalyzes ATP-dependent leucine attachment to tRNA(Leu) through two-step reaction
PMID: 25051973
2
ULK1 phosphorylates LARS1 under glucose starvation, reducing leucine binding
PMID: 31780625
3
O-GlcNAcylation of LARS1 at S1042 integrates glucose and leucine sensing to regulate mTORC1
PMID: 35614056
4
LARS1 mutations cause infantile liver failure syndrome 1 with developmental delay and seizures
PMID: 34496286
5
LARS1 deficiency causes encephalopathic episodes with characteristic MRI patterns
PMID: 38951950
6
LARS1 downregulation causes chemoresistance through impaired N-glycosylation
PMID: 40683603
7
LARS1 plays oncogenic role in ovarian cancer
PMID: 39321430
8
LARS1 lactylation inhibits autophagy and promotes podocyte injury in diabetic kidney disease
PMID: 40545110
9
LARS1 promotes renal fibrosis by inhibiting lipophagy and activating mTORC1
PMID: 40397353
Disease Associationsβ“˜21
infantile liver failure syndrome 1Open Targets
0.65Moderate
acute infantile liver failure due to synthesis defect of mtDNA-encoded proteinsOpen Targets
0.48Moderate
Acute infantile liver failure-multisystemic involvement syndromeOpen Targets
0.37Weak
Global developmental delayOpen Targets
0.12Weak
Generalized-onset seizureOpen Targets
0.12Weak
Normochromic microcytic anemiaOpen Targets
0.12Weak
Sensorineural hearing impairmentOpen Targets
0.12Weak
sensorineural hearing lossOpen Targets
0.12Weak
microcephalyOpen Targets
0.11Weak
mathematical abilityOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
osteosarcomaOpen Targets
0.07Suggestive
diffuse large B-cell lymphomaOpen Targets
0.07Suggestive
chronic kidney diseaseOpen Targets
0.05Suggestive
urinary bladder carcinomaOpen Targets
0.04Suggestive
colorectal cancerOpen Targets
0.03Suggestive
Nijmegen breakage syndromeOpen Targets
0.03Suggestive
renal fibrosisOpen Targets
0.03Suggestive
Infantile liver failure syndrome 1UniProt
Pathogenic Variants29
NM_020117.11(LARS1):c.3313C>T (p.Arg1105Ter)Pathogenic
not provided|Infantile liver failure syndrome 1|Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins|LARS1-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 1105
NM_020117.11(LARS1):c.727A>T (p.Lys243Ter)Pathogenic
not provided|not specified
β˜…β˜…β˜†β˜†2022β†’ Residue 243
NM_020117.11(LARS1):c.2342G>A (p.Trp781Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 781
NM_020117.11(LARS1):c.1621A>T (p.Lys541Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 541
NM_020117.11(LARS1):c.904C>T (p.Gln302Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 302
NM_020117.11(LARS1):c.1812del (p.Phe603_Tyr604insTer)Pathogenic
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
β˜…β˜†β˜†β˜†2025β†’ Residue 603
NM_020117.11(LARS1):c.771+2T>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_020117.11(LARS1):c.2391dup (p.Ala798fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 798
NM_020117.11(LARS1):c.725C>T (p.Pro242Leu)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 242
NM_020117.11(LARS1):c.1351A>T (p.Ile451Phe)Likely pathogenic
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
β˜…β˜†β˜†β˜†2025β†’ Residue 451
NM_020117.11(LARS1):c.900del (p.Phe300fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 300
NM_020117.11(LARS1):c.743G>T (p.Cys248Phe)Likely pathogenic
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
β˜…β˜†β˜†β˜†2024β†’ Residue 248
NM_020117.11(LARS1):c.3325+1delLikely pathogenic
Infantile liver failure syndrome 1
β˜…β˜†β˜†β˜†2024
NM_020117.11(LARS1):c.2383dup (p.Arg795fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 795
NM_020117.11(LARS1):c.11_12del (p.Arg4fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 4
NM_020117.11(LARS1):c.2781del (p.Lys927fs)Likely pathogenic
Infantile liver failure syndrome 1
β˜…β˜†β˜†β˜†2023β†’ Residue 927
NM_020117.11(LARS1):c.1237C>T (p.Arg413Ter)Pathogenic
not specified
β˜…β˜†β˜†β˜†2023β†’ Residue 413
NM_020117.11(LARS1):c.1738+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_020117.11(LARS1):c.1755G>A (p.Trp585Ter)Likely pathogenic
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
β˜…β˜†β˜†β˜†2022β†’ Residue 585
NM_020117.11(LARS1):c.661C>T (p.Gln221Ter)Likely pathogenic
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
β˜…β˜†β˜†β˜†2022β†’ Residue 221
View on ClinVar β†—
Related Genes
CARS1Protein interaction100%GARS1Protein interaction100%HARS1Protein interaction100%NARS1Protein interaction100%SARS1Protein interaction100%TARS1Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Heart
76%
Ovary
63%
Lung
52%
Liver
39%
Bone Marrow
37%
Gene Interaction Network
Click a node to explore
LARS1CARS1GARS1HARS1NARS1SARS1TARS1
PROTEIN STRUCTURE
Preparing viewer…
PDB6LPF Β· 2.49 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.79LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.64 [0.52–0.79]
RankingsWhere LARS1 stands among ~20K protein-coding genes
  • #1,988of 20,598
    Most Researched210 Β· top 10%
  • #1,833of 5,498
    Most Pathogenic Variants29
  • #6,480of 17,882
    Most Constrained (LOEUF)0.79
Genes detectedLARS1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Mitochondrial-Derived Peptide MOTS-c Suppresses Ovarian Cancer Progression by Attenuating USP7-Mediated LARS1 Deubiquitination.
PMID: 39321430
Adv Sci (Weinh) Β· 2024
1.00
2
Glucose-dependent control of leucine metabolism by leucyl-tRNA synthetase 1.
PMID: 31780625
Science Β· 2020
0.90
3
Restoration of N-glycosylation via leucine-activated leucyl-tRNA synthetase 1 overcomes chemoresistance in intrahepatic cholangiocarcinoma.
PMID: 40683603
J Hepatol Β· 2026
0.80
4
Deep phenotyping of MARS1 (interstitial lung and liver disease) and LARS1 (infantile liver failure syndrome 1) recessive multisystemic disease using Human Phenotype Ontology annotation: Overlap and differences. Case report and review of literature.
PMID: 34496286
Eur J Med Genet Β· 2021
0.70
5
The 3'tsRNAs are aminoacylated: Implications for their biogenesis.
PMID: 34324497
PLoS Genet Β· 2021
0.68