Methionine–tRNA ligase, cytoplasmic

MARS1
Identifiers
Aliases	MARS1, METRS, MRS, MTRNS, SPG70, CMT2U, ILFS2, ILLD, methionyl-tRNA synthetase, methionyl-tRNA synthetase 1, MARS, TTD9
External IDs	OMIM: 156560; MGI: 1345633; GeneCards: MARS1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2DJV, 4BL7, 4BVX, 4BVY
Enzyme activity
Gene location (Human)
Chr.	Chromosome 12 (human)
End	57,517,569 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	127,147,655 bp
RNA expression pattern
	Top expressed in
	right hemisphere of cerebellum; ; anterior pituitary; ; right frontal lobe; ; tendon of biceps brachii; ; granulocyte; ; epithelium of colon; ; left lobe of thyroid gland; ; right lobe of thyroid gland; ; upper lobe of left lung; ; body of pancreas;
	Top expressed in
	lacrimal gland; ; fossa; ; primitive streak; ; epiblast; ; tail of embryo; ; condyle; ; seminal vesicula; ; calvaria; ; muscle of thigh; ; abdominal wall;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	aminoacyl-tRNA ligase activity; tRNA binding; nucleotide binding; ligase activity; ATP binding; RNA binding; methionine-tRNA ligase activity;
Cellular component	extracellular exosome; membrane; nucleolus; cytoplasm; aminoacyl-tRNA synthetase multienzyme complex; cytosol; nucleus;
Biological process	protein biosynthesis; tRNA aminoacylation for protein translation; cellular response to starvation; rRNA transcription; cellular response to insulin stimulus; cellular response to platelet-derived growth factor stimulus; cellular response to epidermal growth factor stimulus; positive regulation of transcription of nucleolar large rRNA by RNA polymerase I; methionyl-tRNA aminoacylation;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	4141
	216443
	ENSG00000166986
	ENSMUSG00000040354
	P56192
	Q68FL6
	NM_004990
	NM_001003913; NM_001171582
	NP_004981
	NP_001003913; NP_001165053
	Wikidata
View/Edit Human	View/Edit Mouse

Methionine–tRNA ligase, cytoplasmic, also called methionyl-tRNA synthetase 1, is an enzyme that in humans is encoded by the MARS1 gene (formally MARS). Like to the related enzyme, MARS2, this enzyme function as a Methionine–tRNA ligase. This means it attaches the amino acid methionine to the corresponding transfer RNA (tRNA^Met) which is a preparation step for RNA-to-protein translation.

Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene belongs to the class I family of tRNA synthetases.

Medical significance

Pathogenic mutations in MARS1 have been associated with associated with a variety of illnesses. Heterozygous (loss-of-function) mutations have been associated with a form of Charcot-Marie-Tooth disease type 2U (CMT2U), while homozygous or compound heterozygous mutations have been associated with either Interstitial lung and liver disease (ILLD) or autosomal recessive spastic paraplegia-70 (SPG70).

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000166986 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000040354 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Ubeda M, Schmitt-Ney M, Ferrer J, Habener JF (Sep 1999). "CHOP/GADD153 and methionyl-tRNA synthetase (MetRS) genes overlap in a conserved region that controls mRNA stability". Biochem Biophys Res Commun. 262 (1): 31–8. doi:10.1006/bbrc.1999.1140. PMID 10448063.
1 2 3 "Entrez Gene: MARS methionyl-tRNA synthetase".
↑ EC 6.1.1.10
1 2 "METHIONYL-tRNA SYNTHETASE 1; MARS1". Online Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 2026-09-27.

Norcum MT (1991). "Structural analysis of the high molecular mass aminoacyl-tRNA synthetase complex. Effects of neutral salts and detergents". J. Biol. Chem. 266 (23): 15398–405. doi:10.1016/S0021-9258(18)98629-1. PMID 1651330.
Ogata K, Kurahashi A, Kenmochi N, Terao K (1992). "Role of 5SrRNA as a positive effector of some aminoacyl-tRNA synthetases in macromolecular complexes, with specific reference to methionyl-tRNA synthetase". J. Biochem. 110 (6): 1037–44. doi:10.1093/oxfordjournals.jbchem.a123674. PMID 1665486.
Cirullo RE, Wasmuth JJ (1984). "Assignment of the human MARS gene, encoding methioninyl-tRNA synthetase, to chromosome 12 using human X Chinese hamster cell hybrids". Somat. Cell Mol. Genet. 10 (3): 225–34. doi:10.1007/BF01535245. PMID 6585969. S2CID 44887504.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Lage H, Dietel M (1996). "Cloning of a human cDNA encoding a protein with high homology to yeast methionyl-tRNA synthetase". Gene. 178 (1–2): 187–9. doi:10.1016/0378-1119(96)00313-7. PMID 8921912.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Quevillon S, Robinson JC, Berthonneau E, et al. (1999). "Macromolecular assemblage of aminoacyl-tRNA synthetases: identification of protein-protein interactions and characterization of a core protein". J. Mol. Biol. 285 (1): 183–95. doi:10.1006/jmbi.1998.2316. PMID 9878398.
Ko YG, Kang YS, Kim EK, et al. (2000). "Nucleolar Localization of Human Methionyl–Trna Synthetase and Its Role in Ribosomal RNA Synthesis". J. Cell Biol. 149 (3): 567–74. doi:10.1083/jcb.149.3.567. PMC 2174846. PMID 10791971.
Kang J, Kim T, Ko YG, et al. (2000). "Heat shock protein 90 mediates protein-protein interactions between human aminoacyl-tRNA synthetases". J. Biol. Chem. 275 (41): 31682–8. doi:10.1074/jbc.M909965199. PMID 10913161.
Kaminska M, Shalak V, Mirande M (2002). "The appended C-domain of human methionyl-tRNA synthetase has a tRNA-sequestering function". Biochemistry. 40 (47): 14309–16. doi:10.1021/bi015670b. PMID 11714285.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Ahn HC, Kim S, Lee BJ (2003). "Solution structure and p43 binding of the p38 leucine zipper motif: coiled-coil interactions mediate the association between p38 and p43". FEBS Lett. 542 (1–3): 119–24. doi:10.1016/S0014-5793(03)00362-4. PMID 12729910. S2CID 39222196.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein–protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.

This article on a gene on human chromosome 12 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000166986 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000040354 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10448063-5] Ubeda M, Schmitt-Ney M, Ferrer J, Habener JF (Sep 1999). "CHOP/GADD153 and methionyl-tRNA synthetase (MetRS) genes overlap in a conserved region that controls mRNA stability". Biochem Biophys Res Commun. 262 (1): 31–8. doi:10.1006/bbrc.1999.1140. PMID 10448063.

[entrez-6] 1 2 3 "Entrez Gene: MARS methionyl-tRNA synthetase".

[7] EC 6.1.1.10

[omim-8] 1 2 "METHIONYL-tRNA SYNTHETASE 1; MARS1". Online Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 2026-09-27.

Methionine–tRNA ligase, cytoplasmic

Medical significance

References

Further reading