• Gene id: 4141

Gene Summary

• Gene Symbol: MARS1   Gene   UCSC   Ensembl
• Aliases: CMT2U, ILFS2, ILLD, MARS, METRS, MRS, MTRNS, SPG70
• Gene name: methionyl-tRNA synthetase 1
• Alternate names: methionine--tRNA ligase, cytoplasmic, cytosolic methionyl-tRNA synthetase,
• Gene location: 12q13.3 (57488067: 57516654)     Exons: 20     NC_000012.12
• Gene summary(Entrez): This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. The encoded protein is a component of the multi-tRNA synthetase co
• OMIM: 156560

Protein Summary

• Protein general information: P56192  
  • Name: Methionine tRNA ligase, cytoplasmic (EC 6.1.1.10) (Methionyl tRNA synthetase) (MetRS)
  • Length: 900  
  • Mass: 101116
• Sequence:

  MRLFVSDGVPGCLPVLAAAGRARGRAEVLISTVGPEDCVVPFLTRPKVPVLQLDSGNYLFSTSAICRYFFLLSGW
  EQDDLTNQWLEWEATELQPALSAALYYLVVQGKKGEDVLGSVRRALTHIDHSLSRQNCPFLAGETESLADIVLWG
  ALYPLLQDPAYLPEELSALHSWFQTLSTQEPCQRAAETVLKQQGVLALRPYLQKQPQPSPAEGRAVTNEPEEEEL
  ATLSEEEIAMAVTAWEKGLESLPPLRPQQNPVLPVAGERNVLITSALPYVNNVPHLGNIIGCVLSADVFARYSRL
  RQWNTLYLCGTDEYGTATETKALEEGLTPQEICDKYHIIHADIYRWFNISFDIFGRTTTPQQTKITQDIFQQLLK
  RGFVLQDTVEQLRCEHCARFLADRFVEGVCPFCGYEEARGDQCDKCGKLINAVELKKPQCKVCRSCPVVQSSQHL
  FLDLPKLEKRLEEWLGRTLPGSDWTPNAQFITRSWLRDGLKPRCITRDLKWGTPVPLEGFEDKVFYVWFDATIGY
  LSITANYTDQWERWWKNPEQVDLYQFMAKDNVPFHSLVFPCSALGAEDNYTLVSHLIATEYLNYEDGKFSKSRGV
  GVFGDMAQDTGIPADIWRFYLLYIRPEGQDSAFSWTDLLLKNNSELLNNLGNFINRAGMFVSKFFGGYVPEMVLT
  PDDQRLLAHVTLELQHYHQLLEKVRIRDALRSILTISRHGNQYIQVNEPWKRIKGSEADRQRAGTVTGLAVNIAA
  LLSVMLQPYMPTVSATIQAQLQLPPPACSILLTNFLCTLPAGHQIGTVSPLFQKLENDQIESLRQRFGGGQAKTS
  PKPAVVETVTTAKPQQIQALMDEVTKQGNIVRELKAQKADKNEVAAEVAKLLDLKKQLAVAEGKPPEAPKGKKKK

• Structural information:
  • Protein Domains: (74..19-)
    (/note="GST-C-terminal)
    (841..89-)
    (/note="WHEP-TRS"-)
  • Interpro: IPR001412  IPR041872  IPR010987  IPR036282  IPR004046   IPR041598  IPR023458  IPR014758  IPR015413  IPR033911  IPR029038  IPR014729  IPR009068  IPR036249  IPR009080  IPR000738  
  • Prosite: PS00178 PS50405 PS00762 PS51185
  • CDD: cd07957 cd00814
  • PDB: 2DJV 4BL7 4BVX 4BVY 5GL7 5GOY 5Y6L
  • PDBsum: 2DJV 4BL7 4BVX 4BVY 5GL7 5GOY 5Y6L
  • DIP: 38164
  • STRING: ENSP00000262027
• Other Databases: GeneCards:  MARS1  Malacards:  MARS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0006418	tRNA aminoacylation for protein translation	IBA	biological process
GO:0006431	methionyl-tRNA aminoacylation	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0017101	aminoacyl-tRNA synthetase multienzyme complex	IDA	cellular component
GO:0004825	methionine-tRNA ligase activity	IDA	molecular function
GO:0004812	aminoacyl-tRNA ligase activity	IEA	molecular function
GO:0006418	tRNA aminoacylation for protein translation	IEA	biological process
GO:0006431	methionyl-tRNA aminoacylation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0004825	methionine-tRNA ligase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0004812	aminoacyl-tRNA ligase activity	IEA	molecular function
GO:0000049	tRNA binding	IEA	molecular function
GO:0006412	translation	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0004825	methionine-tRNA ligase activity	TAS	molecular function
GO:0004825	methionine-tRNA ligase activity	IEA	molecular function
GO:0004825	methionine-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:0017101	aminoacyl-tRNA synthetase multienzyme complex	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0009303	rRNA transcription	IMP	biological process
GO:0009267	cellular response to starvation	IDA	biological process
GO:0036120	cellular response to platelet-derived growth factor stimulus	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:1901838	positive regulation of transcription of nucleolar large rRNA by RNA polymerase I	IMP	biological process
GO:0005730	nucleolus	IDA	cellular component
GO:0017101	aminoacyl-tRNA synthetase multienzyme complex	IDA	cellular component
GO:0032869	cellular response to insulin stimulus	IDA	biological process
GO:0071364	cellular response to epidermal growth factor stimulus	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00970	Aminoacyl-tRNA biosynthesis
hsa00450	Selenocompound metabolism

Diseases

Associated diseases	References
Charcot-Marie-Tooth disease	KEGG:H00264
Interstitial lung and liver disease	KEGG:H02124
Charcot-Marie-Tooth disease	KEGG:H00264
Interstitial lung and liver disease	KEGG:H02124
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq