Human Gene MARS1 (ENST00000262027.10_4) from GENCODE V47lift37
  Description: methionyl-tRNA synthetase 1 (from RefSeq NM_004990.4)
Gencode Transcript: ENST00000262027.10_4
Gencode Gene: ENSG00000166986.15_10
Transcript (Including UTRs)
   Position: hg19 chr12:57,881,851-57,910,435 Size: 28,585 Total Exon Count: 21 Strand: +
Coding Region
   Position: hg19 chr12:57,881,874-57,910,364 Size: 28,491 Coding Exon Count: 21 

Page IndexSequence and LinksUniProtKB CommentsPrimersGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:57,881,851-57,910,435)mRNA (may differ from genome)Protein (900 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsMGI
OMIMPubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SYMC_HUMAN
DESCRIPTION: RecName: Full=Methionine--tRNA ligase, cytoplasmic; EC=6.1.1.10; AltName: Full=Methionyl-tRNA synthetase; Short=MetRS;
CATALYTIC ACTIVITY: ATP + L-methionine + tRNA(Met) = AMP + diphosphate + L-methionyl-tRNA(Met).
SUBUNIT: Component of the multisynthetase complex which is comprised of a bifunctional glutamyl-prolyl-tRNA synthetase, the monospecific isoleucyl, leucyl, glutaminyl, methionyl, lysyl, arginyl, and aspartyl-tRNA synthetases as well as three auxiliary proteins, p18, p48 and p43.
INTERACTION: Q9HAW0:BRF2; NbExp=1; IntAct=EBI-355848, EBI-1055224; O14908:GIPC1; NbExp=1; IntAct=EBI-355848, EBI-373132; Q13418:ILK; NbExp=1; IntAct=EBI-355848, EBI-747644; P23508:MCC; NbExp=1; IntAct=EBI-355848, EBI-307531; Q9Y478:PRKAB1; NbExp=1; IntAct=EBI-355848, EBI-719769;
SUBCELLULAR LOCATION: Cytoplasm (Probable).
SIMILARITY: Belongs to the class-I aminoacyl-tRNA synthetase family.
SIMILARITY: Contains 1 GST C-terminal domain.
SIMILARITY: Contains 1 WHEP-TRS domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 47.38 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 1231.43 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -1.1023-0.048 Picture PostScript Text
3' UTR -9.2071-0.130 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001412 - aa-tRNA-synth_I_CS
IPR010987 - Glutathione-S-Trfase_C-like
IPR017933 - Glutathione_S_Trfase/Cl_chnl_C
IPR023458 - Met-tRNA_ligase_1
IPR014758 - Met-tRNA_synth
IPR015413 - Methionyl/Leucyl_tRNA_Synth
IPR014729 - Rossmann-like_a/b/a_fold
IPR009068 - S15_NS1_RNA-bd
IPR009080 - tRNAsynth_1a_anticodon-bd
IPR000738 - WHEP-TRS

Pfam Domains:
PF00043 - Glutathione S-transferase, C-terminal domain
PF00458 - WHEP-TRS domain
PF09334 - tRNA synthetases class I (M)
PF18485 - Glutathione S-transferase, N-terminal domain
PF19303 - Anticodon binding domain of methionyl tRNA ligase

SCOP Domains:
47060 - S15/NS1 RNA-binding domain
47323 - Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases
47616 - GST C-terminal domain-like
52374 - Nucleotidylyl transferase
52833 - Thioredoxin-like
57770 - Methionyl-tRNA synthetase (MetRS), Zn-domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2DJV - NMR MuPIT


ModBase Predicted Comparative 3D Structure on P56192
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000049 tRNA binding
GO:0000166 nucleotide binding
GO:0003723 RNA binding
GO:0004812 aminoacyl-tRNA ligase activity
GO:0004825 methionine-tRNA ligase activity
GO:0005524 ATP binding
GO:0016874 ligase activity

Biological Process:
GO:0006412 translation
GO:0006418 tRNA aminoacylation for protein translation
GO:0006431 methionyl-tRNA aminoacylation
GO:0009267 cellular response to starvation
GO:0009303 rRNA transcription
GO:0032869 cellular response to insulin stimulus
GO:0036120 cellular response to platelet-derived growth factor stimulus
GO:0071364 cellular response to epidermal growth factor stimulus
GO:1901838 positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter

Cellular Component:
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016020 membrane
GO:0017101 aminoacyl-tRNA synthetase multienzyme complex
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AK122956 - Homo sapiens cDNA FLJ16674 fis, clone THYMU3008136, highly similar to Methionyl-tRNA synthetase (EC 6.1.1.10).
LF384693 - JP 2014500723-A/192196: Polycomb-Associated Non-Coding RNAs.
BC065187 - Homo sapiens methionine-tRNA synthetase, mRNA (cDNA clone IMAGE:5021529), partial cds.
AK293945 - Homo sapiens cDNA FLJ53309 complete cds, highly similar to Methionyl-tRNA synthetase (EC 6.1.1.10).
AK303349 - Homo sapiens cDNA FLJ55046 complete cds, highly similar to Methionyl-tRNA synthetase (EC 6.1.1.10).
D84224 - Homo sapiens mRNA for methionyl tRNA synthetase, complete cds.
AK222767 - Homo sapiens mRNA for methionine-tRNA synthetase variant, clone: HEP00371.
AK092986 - Homo sapiens cDNA FLJ35667 fis, clone SPLEN2018098, highly similar to METHIONYL-TRNA SYNTHETASE (EC 6.1.1.10).
AX747839 - Sequence 1364 from Patent EP1308459.
AK290857 - Homo sapiens cDNA FLJ76789 complete cds, highly similar to Homo sapiens methionine-tRNA synthetase (MARS), mRNA.
BC011639 - Homo sapiens methionyl-tRNA synthetase, mRNA (cDNA clone MGC:12828 IMAGE:4120680), complete cds.
X94754 - H.sapiens mRNA for yeast methionyl-tRNA synthetase homologue.
BC006328 - Homo sapiens methionyl-tRNA synthetase, mRNA (cDNA clone MGC:12889 IMAGE:4139330), complete cds.
BC002384 - Homo sapiens methionyl-tRNA synthetase, mRNA (cDNA clone MGC:8646 IMAGE:2961615), complete cds.
BC011849 - Homo sapiens methionyl-tRNA synthetase, mRNA (cDNA clone MGC:20313 IMAGE:4135154), complete cds.
AB590802 - Synthetic construct DNA, clone: pFN21AB8542, Homo sapiens MARS gene for methionyl-tRNA synthetase, without stop codon, in Flexi system.
BT007338 - Homo sapiens methionine-tRNA synthetase mRNA, complete cds.
KJ897167 - Synthetic construct Homo sapiens clone ccsbBroadEn_06561 MARS gene, encodes complete protein.
BC015011 - Homo sapiens methionyl-tRNA synthetase, mRNA (cDNA clone IMAGE:4864644), partial cds.
LF324187 - JP 2014500723-A/131690: Polycomb-Associated Non-Coding RNAs.
LF324186 - JP 2014500723-A/131689: Polycomb-Associated Non-Coding RNAs.
LF324185 - JP 2014500723-A/131688: Polycomb-Associated Non-Coding RNAs.
LF324184 - JP 2014500723-A/131687: Polycomb-Associated Non-Coding RNAs.
LF324183 - JP 2014500723-A/131686: Polycomb-Associated Non-Coding RNAs.
LF324181 - JP 2014500723-A/131684: Polycomb-Associated Non-Coding RNAs.
LF324179 - JP 2014500723-A/131682: Polycomb-Associated Non-Coding RNAs.
LF324178 - JP 2014500723-A/131681: Polycomb-Associated Non-Coding RNAs.
Z49216 - H.sapiens mitoxantrone-resistance associated mRNA.
LF324177 - JP 2014500723-A/131680: Polycomb-Associated Non-Coding RNAs.
JD307728 - Sequence 288752 from Patent EP1572962.
JD376162 - Sequence 357186 from Patent EP1572962.
JD323926 - Sequence 304950 from Patent EP1572962.
JD214992 - Sequence 196016 from Patent EP1572962.
LF324174 - JP 2014500723-A/131677: Polycomb-Associated Non-Coding RNAs.
LF208931 - JP 2014500723-A/16434: Polycomb-Associated Non-Coding RNAs.
LF324173 - JP 2014500723-A/131676: Polycomb-Associated Non-Coding RNAs.
LF385494 - JP 2014500723-A/192997: Polycomb-Associated Non-Coding RNAs.
JD148003 - Sequence 129027 from Patent EP1572962.
MA620270 - JP 2018138019-A/192196: Polycomb-Associated Non-Coding RNAs.
MA559764 - JP 2018138019-A/131690: Polycomb-Associated Non-Coding RNAs.
MA559763 - JP 2018138019-A/131689: Polycomb-Associated Non-Coding RNAs.
MA559762 - JP 2018138019-A/131688: Polycomb-Associated Non-Coding RNAs.
MA559761 - JP 2018138019-A/131687: Polycomb-Associated Non-Coding RNAs.
MA559760 - JP 2018138019-A/131686: Polycomb-Associated Non-Coding RNAs.
MA559758 - JP 2018138019-A/131684: Polycomb-Associated Non-Coding RNAs.
MA559756 - JP 2018138019-A/131682: Polycomb-Associated Non-Coding RNAs.
MA559755 - JP 2018138019-A/131681: Polycomb-Associated Non-Coding RNAs.
MA559754 - JP 2018138019-A/131680: Polycomb-Associated Non-Coding RNAs.
MA559751 - JP 2018138019-A/131677: Polycomb-Associated Non-Coding RNAs.
MA559750 - JP 2018138019-A/131676: Polycomb-Associated Non-Coding RNAs.
MA621071 - JP 2018138019-A/192997: Polycomb-Associated Non-Coding RNAs.
MA444508 - JP 2018138019-A/16434: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
TRNA-CHARGING-PWY - tRNA charging

Reactome (by CSHL, EBI, and GO)

Protein P56192 (Reactome details) participates in the following event(s):

R-HSA-380008 lysine + tRNA(Lys) + ATP => Lys-tRNA(Lys) + AMP + pyrophosphate
R-HSA-379974 leucine + tRNA(Leu) + ATP => Leu-tRNA(Leu) + AMP + pyrophosphate
R-HSA-379861 glutamate + tRNA(Glu) + ATP => Glu-tRNA(Glu) + AMP + pyrophosphate
R-HSA-379893 isoleucine + tRNA(Ile) + ATP => Ile-tRNA(Ile) + AMP + pyrophosphate
R-HSA-379865 proline + tRNA(Pro) + ATP => Pro-tRNA(Pro) + AMP + pyrophosphate
R-HSA-379994 methionine + tRNA(Met) + ATP => Met-tRNA(Met) + AMP + pyrophosphate
R-HSA-379867 aspartate + tRNA(Asp) + ATP => Asp-tRNA(Asp) + AMP + pyrophosphate
R-HSA-379982 glutamine + tRNA(Gln) + ATP => Gln-tRNA(Gln) + AMP + pyrophosphate
R-HSA-379993 arginine + tRNA(Arg) + ATP => Arg-tRNA(Arg) + AMP + pyrophosphate
R-HSA-2408546 tRNA(Met) is selenomethionylated to SeMet-tRNA(Met) by multisynthetase complex
R-HSA-379716 Cytosolic tRNA aminoacylation
R-HSA-2408517 SeMet incorporation into proteins
R-HSA-379724 tRNA Aminoacylation
R-HSA-2408522 Selenoamino acid metabolism
R-HSA-72766 Translation
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-392499 Metabolism of proteins
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B3KVK7, ENST00000262027.1, ENST00000262027.2, ENST00000262027.3, ENST00000262027.4, ENST00000262027.5, ENST00000262027.6, ENST00000262027.7, ENST00000262027.8, ENST00000262027.9, MARS, MARS1 , NM_004990, P56192, Q14895, Q53H14, Q96A15, Q96BZ0, Q9NSE0, SYMC_HUMAN, uc317gvx.1, uc317gvx.2
UCSC ID: ENST00000262027.10_4
RefSeq Accession: NM_004990.4
Protein: P56192 (aka SYMC_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene MARS1:
cmt (Charcot-Marie-Tooth Hereditary Neuropathy Overview)
hsp (Hereditary Spastic Paraplegia Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.