MARS1 (methionyl-tRNA synthetase 1)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4141
Gene name Gene Name - the full gene name approved by the HGNC.
Methionyl-tRNA synthetase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MARS1
Synonyms (NCBI Gene) Gene synonyms aliases
CMT2U, ILFS2, ILLD, MARS, METRS, MRS, MTRNS, SPG70, TTD9
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q13.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
SNP ID Visualize variation Clinical significance Consequence
rs113808165 G>A,T Conflicting-interpretations-of-pathogenicity, likely-benign Non coding transcript variant, coding sequence variant, missense variant
rs140467171 T>C Likely-pathogenic, not-provided, pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs141340466 G>A Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs758523839 A>G Likely-pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs766466297 A>G Pathogenic Coding sequence variant, non coding transcript variant, missense variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(35)
GO ID Ontology Definition Evidence Reference
GO:0000049 Function TRNA binding IEA
GO:0000166 Function Nucleotide binding IEA
GO:0003723 Function RNA binding IEA
GO:0004812 Function Aminoacyl-tRNA ligase activity IEA
GO:0004825 Function Methionine-tRNA ligase activity IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
156560 6898 ENSG00000166986
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P56192
Protein name Methionine--tRNA ligase, cytoplasmic (EC 6.1.1.10) (Methionyl-tRNA synthetase) (MetRS)
Protein function Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA (PubMed:11714285). Plays a role in the
PDB 2DJV , 4BL7 , 4BVX , 4BVY , 5GL7 , 5GOY , 5Y6L
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18485 GST_N_5 1 → 74 Glutathione S-transferase, N-terminal domain Domain
PF00043 GST_C 92 → 180 Glutathione S-transferase, C-terminal domain Domain
PF09334 tRNA-synt_1g 266 → 658 tRNA synthetases class I (M) Family
PF00458 WHEP-TRS 845 → 897 WHEP-TRS domain Domain
Sequence 
MRLFVSDGVPGCLPVLAAAGRARGRAEVLISTVGPEDCVVPFLTRPKVPVLQLDSGNYLF
STSAICRYFFLLSGWEQDDLTNQWLEWEATELQPALSAALYYLVVQGKKGEDVLGSVRRA
LTHIDHSLSRQNCPFLAGETESLADIVLWGALYPLLQDPAYLPEELSALHSWFQTLSTQE
PCQRAAETVLKQQGVLALRPYLQKQPQPSPAEGRAVTNEPEEEELATLSEEEIAMAVTAW
EKGLESLPPLRPQQNPVLPVAGERNVLITSALPYVNNVPHLGNIIGCVLSADVFARYSRL
RQWNTLYLCGTDEYGTATETKALEEGLTPQEICDKYHIIHADIYRWFNISFDIFGRTTTP
QQTKITQDIFQQLLKRGFVLQDTVEQLRCEHCARFLADRFVEGVCPFCGYEEARGDQCDK
CGKLINAVELKKPQCKVCRSCPVVQSSQHLFLDLPKLEKRLEEWLGRTLPGSDWTPNAQF
ITRSWLRDGLKPRCITRDLKWGTPVPLEGFEDKVFYVWFDATIGYLSITANYTDQWERWW
KNPEQVDLYQFMAKDNVPFHSLVFPCSALGAEDNYTLVSHLIATEYLNYEDGKFSKSRGV
GVFGDMAQDTGIPADIWRFYLLYIRPEGQDSAFSWTDLLLKNNSELLNNLGNFINRAGMF
VSKFFGGYVPEMVLTPDDQRLLAHVTLELQHYHQLLEKVRIRDALRSILTISRHGNQYIQ
VNEPWKRIKGSEADRQRAGTVTGLAVNIAALLSVMLQPYMPTVSATIQAQLQLPPPACSI
LLTNFLCTLPAGHQIGTVSPLFQKLENDQIESLRQRFGGGQAKTSPKPAVVETVTTAKPQ
QIQALMDEVTKQGNIVRELKAQKADKNEVAAEVAKLLDLKKQLAVAEGKPPEAPKGKKKK
Sequence length 900
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Selenocompound metabolism
Aminoacyl-tRNA biosynthesis
Metabolic pathways 		  Cytosolic tRNA aminoacylation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Pulmonary Alveolar Proteinosis severe early-onset pulmonary alveolar proteinosis due to mars deficiency rs756021768, rs758523839 N/A
Show/Hide Unknown Diseases (6)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease, Charcot-Marie-Tooth disease axonal type 2U, Charcot-Marie-Tooth disease N/A N/A ClinVar, GenCC
Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease axonal type 2U N/A N/A ClinVar
Distal Spinal Muscular Atrophy distal spinal muscular atrophy N/A N/A ClinVar
Hereditary spastic paraplegia Hereditary spastic paraplegia N/A N/A ClinVar
Show/Hide Text Mining Associations (11)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 40542379
Breast Neoplasms Associate 32404475
Charcot Marie Tooth Disease Associate 31356216
Genetic Diseases Inborn Associate 31796085
Late Onset Disorders Associate 31356216
Multiple Myeloma Associate 37587064
Neoplasm Metastasis Associate 32404475
Neoplasms Associate 37587064
Polyneuropathies Associate 31356216
Pulmonary Alveolar Proteinosis Associate 30723866