MARS1 (methionyl-tRNA synthetase 1)

2021-06-01  

Identity

HGNC
MARS1
LOCATION
12q13.3
LOCUSID
4141
ALIAS
CMT2U,ILFS2,ILLD,MARS,METRS,MRS,MTRNS,SPG70

Other Information

Locus ID:

NCBI: 4141
MIM: 156560
HGNC: 6898
Ensembl: ENSG00000166986

Variants:

dbSNP: 4141
ClinVar: 4141
TCGA: ENSG00000166986
COSMIC: MARS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166986ENST00000262027P56192
ENSG00000166986ENST00000537638P56192
ENSG00000166986ENST00000545888F5H2V6
ENSG00000166986ENST00000547501F8W0S4
ENSG00000166986ENST00000547665H0YI94
ENSG00000166986ENST00000548944H0YIC2
ENSG00000166986ENST00000549074F8VZZ9
ENSG00000166986ENST00000551172H0YI27
ENSG00000166986ENST00000551431F8W0M7
ENSG00000166986ENST00000551892F8VPL7
ENSG00000166986ENST00000552007F8VS26
ENSG00000166986ENST00000552371H0YHV5
ENSG00000166986ENST00000552499H0YHL6
ENSG00000166986ENST00000552914H0YIP0
ENSG00000166986ENST00000628866F8W0M7
ENSG00000166986ENST00000630571F8VS26
ENSG00000166986ENST00000630803F8VPL7

Pathways

PathwaySourceExternal ID
Selenocompound metabolismKEGGko00450
Aminoacyl-tRNA biosynthesisKEGGko00970
Selenocompound metabolismKEGGhsa00450
Aminoacyl-tRNA biosynthesisKEGGhsa00970
Aminoacyl-tRNA biosynthesis, eukaryotesKEGGhsa_M00359
Aminoacyl-tRNA biosynthesis, eukaryotesKEGGM00359
Gene ExpressionREACTOMER-HSA-74160
tRNA AminoacylationREACTOMER-HSA-379724
Cytosolic tRNA aminoacylationREACTOMER-HSA-379716
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Selenoamino acid metabolismREACTOMER-HSA-2408522
SeMet incorporation into proteinsREACTOMER-HSA-2408517

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
237296952013Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2.51
221062872011Dual role of methionyl-tRNA synthetase in the regulation of translation and tumor suppressor activity of aminoacyl-tRNA synthetase-interacting multifunctional protein-3.34
259130362015Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island.23
243545242014Rare variants in methionyl- and tyrosyl-tRNA synthetase genes in late-onset autosomal dominant Charcot-Marie-Tooth neuropathy.21
190645712008Polymorphisms in mitochondrial genes and prostate cancer risk.20
241034652013Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype.19
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
264729282015Assembly of Multi-tRNA Synthetase Complex via Heterotetrameric Glutathione Transferase-homology Domains.15
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11

Citation

Dessen P

MARS1 (methionyl-tRNA synthetase 1)

Atlas Genet Cytogenet Oncol Haematol. 2021-06-01

Online version: http://atlasgeneticsoncology.org/gene/58358/mars1