Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4141
Gene name	Methionyl-tRNA synthetase 1
Gene symbol	MARS1
Synonyms (NCBI Gene)	CMT2UILFS2ILLDMARSMETRSMRSMTRNSSPG70TTD9
Chromosome	12
Chromosome location	12q13.3
Summary	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

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
rs781249411	C>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant

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
GO:0004825	Function	Methionine-tRNA ligase activity	IDA	11714285
GO:0004825	Function	Methionine-tRNA ligase activity	IEA
GO:0004825	Function	Methionine-tRNA ligase activity	TAS	8921912
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005730	Component	Nucleolus	IDA	10791971
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IDA	10791971, 22424946
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	19289464
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006412	Process	Translation	IEA
GO:0006418	Process	TRNA aminoacylation for protein translation	IEA
GO:0006418	Process	TRNA aminoacylation for protein translation	TAS
GO:0006431	Process	Methionyl-tRNA aminoacylation	IBA
GO:0006431	Process	Methionyl-tRNA aminoacylation	IDA	11714285
GO:0006431	Process	Methionyl-tRNA aminoacylation	IEA
GO:0006431	Process	Methionyl-tRNA aminoacylation	IMP	33909043
GO:0009303	Process	RRNA transcription	IMP	10791971
GO:0016020	Component	Membrane	HDA	19946888
GO:0016874	Function	Ligase activity	IEA
GO:0017101	Component	Aminoacyl-tRNA synthetase multienzyme complex	IBA
GO:0017101	Component	Aminoacyl-tRNA synthetase multienzyme complex	IDA	10791971, 19131329
GO:0017101	Component	Aminoacyl-tRNA synthetase multienzyme complex	IEA
GO:0036120	Process	Cellular response to platelet-derived growth factor stimulus	IDA	10791971
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0071364	Process	Cellular response to epidermal growth factor stimulus	IDA	10791971
GO:1901838	Process	Positive regulation of transcription of nucleolar large rRNA by RNA polymerase I	IMP	10791971

MIM	HGNC	e!Ensembl
156560	6898	ENSG00000166986

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

	KEGG		Reactome
	Selenocompound metabolism Aminoacyl-tRNA biosynthesis Metabolic pathways		Cytosolic tRNA aminoacylation

1486

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Charcot-Marie-Tooth disease axonal type 2U	Pathogenic	rs2140038700	RCV001391547
Germ cell tumor of testis	Pathogenic	rs2540255891	RCV005931950
Pulmonary alveolar proteinosis	Pathogenic	rs756021768	RCV000169766
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency	Likely pathogenic; Pathogenic	rs774227542, rs756021768, rs758523839	RCV001647325 RCV000173001 RCV000677355
Spastic paraplegia 70, autosomal recessive	Pathogenic	rs2540290892	RCV003223368

Show/Hide Unknown Diseases (27)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Conflicting classifications of pathogenicity	rs55727879, rs140573721	RCV005925091 RCV005898086
Cervical cancer	Likely benign; Benign; Conflicting classifications of pathogenicity	rs563778768, rs2290297, rs140573721, rs201328384	RCV005911139 RCV005896572 RCV005898087 RCV005899951
Charcot-Marie-Tooth disease	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs587777718, rs765972233, rs117914586, rs202080192, rs183195960, rs149946100, rs113808165, rs2290297, rs140573721, rs79531790, rs201259473, rs73344102, rs916967743, rs201597392, rs117633211 View all (46 more)	RCV000192267 RCV005361990 RCV001174278 RCV001174280 RCV001174279 RCV001173668 RCV001173655 RCV001174281 RCV001173652 RCV001174285 RCV001173658 RCV001174282 RCV001173649 RCV001173434 RCV001174284 RCV001174275 RCV001173664 RCV001173432 RCV001174283 RCV001173661 RCV001174274 RCV001173665 RCV001173657 RCV001173444 RCV001173445 RCV001174276 RCV005367505 RCV001173424 RCV001173425 RCV001173426 RCV001173433 RCV001173443 RCV001173441 RCV001173651 RCV001173438 RCV001173431 RCV001173648 RCV001173423 RCV001173428 RCV001173440 RCV001173442 RCV001173437 RCV001173430 RCV001173436 RCV001173666 RCV001173650 RCV001173435 RCV001173667 RCV001173427 RCV001173439 RCV001173671 RCV001173660 RCV001173659 RCV001173654 RCV001174277 RCV001173429 RCV001173653 RCV001173669 RCV001173670 RCV001173656 RCV001173663 RCV001173662 RCV001174273
Cholangiocarcinoma	Benign	rs55727879	RCV005925098
Clear cell carcinoma of kidney	Benign; Conflicting classifications of pathogenicity	rs2290297, rs140573721	RCV005896573 RCV005898088
Colon adenocarcinoma	Benign; Conflicting classifications of pathogenicity	rs2290297, rs140573721	RCV005896570 RCV005898085
Colorectal cancer	Benign	rs2290297	RCV005896575
Distal spinal muscular atrophy	Uncertain significance	rs146146070	RCV000664250
Familial cancer of breast	Benign; Conflicting classifications of pathogenicity	rs2290297, rs140573721	RCV005896569 RCV005898084
Gastric cancer	Benign; Likely benign	rs55727879, rs189933911	RCV005925095 RCV005908901
Hepatocellular carcinoma	Benign	rs2290297	RCV005896571
Hereditary spastic paraplegia	Uncertain significance	rs201535531	RCV000516038
Lung cancer	Likely benign	rs563778768, rs771148854	RCV005911140 RCV005928468
Malignant lymphoma, large B-cell, diffuse	Benign	rs2290297	RCV005896574
Malignant tumor of esophagus	Benign	rs55727879	RCV005925092
MARS-related disorder	Conflicting classifications of pathogenicity	rs1555168270, rs140467171	RCV000709861 RCV000709860
MARS1-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs1877591168, rs936487706, rs976087211, rs1460715874, rs117914586, rs141671963, rs149946100, rs372013808, rs113808165, rs140573721, rs200334446, rs562565076, rs375026310, rs377361080, rs139661803 View all (8 more)	RCV003427575 RCV003906554 RCV003966676 RCV003976932 RCV003922682 RCV003932628 RCV004755917 RCV003392242 RCV003972596 RCV003942439 RCV003419800 RCV004755948 RCV003925707 RCV003962599 RCV003915635 RCV003420144 RCV003892489 RCV003937984 RCV003955763 RCV003930446 RCV004756094 RCV003413848 RCV004756186
Melanoma	Benign	rs2290297	RCV005896580
Ovarian serous cystadenocarcinoma	Likely benign; Benign; Conflicting classifications of pathogenicity	rs189933911, rs2290297, rs140573721	RCV005929991 RCV005896577 RCV005898090
Sarcoma	Benign; Conflicting classifications of pathogenicity	rs55727879, rs2290297, rs140573721, rs376636502	RCV005925094 RCV005896576 RCV005898089 RCV005898819
See cases	Uncertain significance	rs201007223, rs1876753716	RCV002245011 RCV001199283
Thymoma	Benign	rs55727879, rs2290297	RCV005925097 RCV005896578
Thyroid cancer, nonmedullary, 1	Likely benign; Benign; Conflicting classifications of pathogenicity	rs189933911, rs2290297, rs140573721	RCV005929992 RCV005896579 RCV005898092
Trichothiodystrophy 9, nonphotosensitive	Uncertain significance	rs774447812, rs774396381, rs1565646613, rs1333359524, rs768234938	RCV001804210 RCV004565720 RCV003412560 RCV003412561 RCV004563354
Uterine carcinosarcoma	Benign; Conflicting classifications of pathogenicity	rs55727879, rs140573721	RCV005925096 RCV005898091
Uterine corpus endometrial carcinoma	Benign; Uncertain significance; Conflicting classifications of pathogenicity	rs55727879, rs1877729649, rs2290297, rs140573721	RCV005925099 RCV005932710 RCV005896581 RCV005898093
Uveal melanoma	Benign	rs55727879	RCV005925093

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Pulmonary alveolar proteinosis congenital	Associate	30723866

MARS1 (methionyl-tRNA synthetase 1)