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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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MARS1
methionyl-tRNA synthetase 1
Chromosome 12 Β· 12q13.3
NCBI Gene: 4141Ensembl: ENSG00000166986.16HGNC: HGNC:6898UniProt: P56192
227PubMed Papers
24Diseases
0Drugs
7Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytoplasmextracellular exosomeaminoacyl-tRNA synthetase multienzyme complexmethionine-tRNA ligase activitysevere early-onset pulmonary alveolar proteinosis due to MARS deficiencyCharcot-Marie-Tooth disease axonal type 2Uautosomal recessive spastic paraplegia type 70Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation
✦AI Summary

MARS1 (methionyl-tRNA synthetase 1) encodes an essential enzyme that catalyzes the specific attachment of methionine to its cognate tRNA in a two-step reaction involving ATP activation followed by transfer to the tRNA acceptor end 1. Beyond its canonical role in protein translation, MARS1 plays important roles in ribosomal RNA synthesis in the nucleolus 2. The enzyme has emerged as a critical regulator of inflammation through its interaction with homocysitaconate, a metabolite that binds to MARS1's D312 residue and inhibits its function, thereby reshaping methionine metabolism and controlling inflammatory responses via the NLRP3 pathway 3. MARS1 also responds to homocysteine by producing homocysteine thiolactone, which promotes N-homocysteinylation of proteins including HMGB1/2, contributing to endothelial senescence and dysfunction 4. Clinically, MARS1 mutations cause severe multisystemic diseases including interstitial lung and liver disease, Charcot-Marie-Tooth disease type 2U, and spastic paraplegia 70 5. Patients with MARS1 mutations typically present with anemia, hepatomegaly, feeding difficulties, and failure to thrive 5. Interestingly, MARS1 expression patterns are also used in sepsis subtyping strategies, though these show limited concordance with other classification systems 6.

Sources cited
1
MARS1 catalyzes specific methionine-tRNA attachment via ATP-dependent two-step reaction
PMID: 11714285
2
MARS1 plays a role in ribosomal RNA synthesis in the nucleolus
PMID: 10791971
3
Homocysitaconate binds MARS1 at D312 residue to control inflammation and methionine metabolism
PMID: 40876449
4
MARS1 responds to homocysteine by producing homocysteine thiolactone and promoting N-homocysteinylation
PMID: 41281764
5
MARS1 mutations cause multisystemic diseases with anemia, hepatomegaly, and failure to thrive
PMID: 34496286
6
MARS1 expression used in sepsis classification but shows limited concordance with other systems
PMID: 37851064
Disease Associationsβ“˜24
severe early-onset pulmonary alveolar proteinosis due to MARS deficiencyOpen Targets
0.74Strong
Charcot-Marie-Tooth disease axonal type 2UOpen Targets
0.68Moderate
autosomal recessive spastic paraplegia type 70Open Targets
0.60Moderate
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutationOpen Targets
0.60Moderate
trichothiodystrophy 9, nonphotosensitiveOpen Targets
0.39Weak
pulmonary alveolar proteinosisOpen Targets
0.34Weak
Charcot-Marie-Tooth diseaseOpen Targets
0.19Weak
hereditary spastic paraplegiaOpen Targets
0.12Weak
distal hereditary motor neuropathyOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
papillary thyroid carcinomaOpen Targets
0.07Suggestive
cancerOpen Targets
0.06Suggestive
neural tube defectOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.05Suggestive
autoimmune diseaseOpen Targets
0.05Suggestive
congenital heart diseaseOpen Targets
0.04Suggestive
glioblastoma multiformeOpen Targets
0.03Suggestive
lung cancerOpen Targets
0.03Suggestive
hyperhomocysteinemiaOpen Targets
0.02Suggestive
Charcot-Marie-Tooth disease, axonal, type 2UUniProt
Interstitial lung and liver diseaseUniProt
Spastic paraplegia 70, autosomal recessiveUniProt
Trichothiodystrophy 9, non-photosensitiveUniProt
Pathogenic Variants7
NM_004990.4(MARS1):c.561_562del (p.Glu187fs)Pathogenic
not specified
β˜…β˜†β˜†β˜†2022β†’ Residue 187
NM_004990.4(MARS1):c.224G>A (p.Trp75Ter)Pathogenic
not specified|Germ cell tumor of testis
β˜…β˜†β˜†β˜†2021β†’ Residue 75
NM_004990.4(MARS1):c.1547A>G (p.Tyr516Cys)Likely pathogenic
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
β˜…β˜†β˜†β˜†2021β†’ Residue 516
NM_004990.4(MARS1):c.2426del (p.Gln809fs)Pathogenic
Charcot-Marie-Tooth disease axonal type 2U
β˜…β˜†β˜†β˜†β†’ Residue 809
NM_004990.4(MARS1):c.1166G>A (p.Cys389Tyr)Pathogenic
Autosomal recessive spastic paraplegia type 70
β˜†β˜†β˜†β˜†2023β†’ Residue 389
NM_004990.4(MARS1):c.1814A>T (p.Asp605Val)Pathogenic
Pulmonary alveolar proteinosis|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
β˜†β˜†β˜†β˜†2015β†’ Residue 605
NM_004990.4(MARS1):c.920A>G (p.Tyr307Cys)Likely pathogenic
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
β˜†β˜†β˜†β˜†β†’ Residue 307
View on ClinVar β†—
Related Genes
AARS1Protein interaction100%DARS1Protein interaction100%EPRS1Protein interaction100%HARS1Protein interaction100%IARS1Protein interaction100%KARS1Protein interaction100%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
77%
Liver
70%
Heart
69%
Brain
59%
Ovary
45%
Gene Interaction Network
Click a node to explore
MARS1AARS1DARS1EPRS1HARS1IARS1KARS1
PROTEIN STRUCTURE
Preparing viewer…
PDB4BVX Β· 1.60 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.78LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.65 [0.54–0.78]
RankingsWhere MARS1 stands among ~20K protein-coding genes
  • #1,783of 20,598
    Most Researched227 Β· top 10%
  • #3,159of 5,498
    Most Pathogenic Variants7
  • #6,338of 17,882
    Most Constrained (LOEUF)0.78
Genes detectedMARS1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Classification of patients with sepsis according to blood genomic endotype: a prospective cohort study.
PMID: 28864056
Lancet Respir Med Β· 2017
1.00
2
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
0.90
3
Uncovering heterogeneity in sepsis: a comparative analysis of subphenotypes.
PMID: 37851064
Intensive Care Med Β· 2023
0.80
4
Host and Microbe Blood Metagenomics Reveals Key Pathways Characterizing Critical Illness Phenotypes.
PMID: 38190719
Am J Respir Crit Care Med Β· 2024
0.70
5
New staining method using methionyl-tRNA synthetase 1 antibody for brushing cytology of bile duct cancer.
PMID: 31874158
Gastrointest Endosc Β· 2020
0.64