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
339090432021Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.15
340869352021Structural basis for the dynamics of human methionyl-tRNA synthetase in multi-tRNA synthetase complexes.4
344962862021Deep phenotyping of MARS1 (interstitial lung and liver disease) and LARS1 (infantile liver failure syndrome 1) recessive multisystemic disease using Human Phenotype Ontology annotation: Overlap and differences. Case report and review of literature.4
339090432021Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.15
340869352021Structural basis for the dynamics of human methionyl-tRNA synthetase in multi-tRNA synthetase complexes.4
344962862021Deep phenotyping of MARS1 (interstitial lung and liver disease) and LARS1 (infantile liver failure syndrome 1) recessive multisystemic disease using Human Phenotype Ontology annotation: Overlap and differences. Case report and review of literature.4
316378812019Methionyl-tRNA Synthetase is a Useful Diagnostic Marker for Lymph Node Metastasis in Non-Small Cell Lung Cancer.10
316378812019Methionyl-tRNA Synthetase is a Useful Diagnostic Marker for Lymph Node Metastasis in Non-Small Cell Lung Cancer.10
296558022018MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease.11
297752422018Mutations in MARS identified in a specific type of pulmonary alveolar proteinosis alter methionyl-tRNA synthetase activity.6
296558022018MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease.11
297752422018Mutations in MARS identified in a specific type of pulmonary alveolar proteinosis alter methionyl-tRNA synthetase activity.6
281489242017Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia.17
286793772017Methionyl-tRNA synthetase overexpression is associated with poor clinical outcomes in non-small cell lung cancer.22
281489242017Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia.17

Citation

Dessen P

MARS1 (methionyl-tRNA synthetase 1)

Atlas Genet Cytogenet Oncol Haematol. 2021-06-01

Online version: http://atlasgeneticsoncology.org/gene/58358/mars1-(methionyl-trna-synthetase-1)