UniProtKB - Q96GW9 (SYMM_HUMAN)
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Protein
Methionine--tRNA ligase, mitochondrial
Gene
MARS2
Organism
Homo sapiens (Human)
Status
Functioni
Catalytic activityi
ATP + L-methionine + tRNA(Met) = AMP + diphosphate + L-methionyl-tRNA(Met).1 Publication
Kineticsi
- KM=18 µM for Met1 Publication
- KM=85 µM for ATP1 Publication
- KM=2.1 µM for tRNA-Met1 Publication
pH dependencei
Optimum pH is 7.8-8.2.1 Publication
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 350 | ATPBy similarity | 1 |
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- methionine-tRNA ligase activity Source: UniProtKB
GO - Biological processi
- methionyl-tRNA aminoacylation Source: UniProtKB
- tRNA aminoacylation for protein translation Source: Reactome
Keywordsi
Molecular function | Aminoacyl-tRNA synthetase, Ligase |
Biological process | Protein biosynthesis |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
Reactomei | R-HSA-379726 Mitochondrial tRNA aminoacylation |
Names & Taxonomyi
Protein namesi | Recommended name: Methionine--tRNA ligase, mitochondrial (EC:6.1.1.10)Alternative name(s): Methionyl-tRNA synthetase 2 Mitochondrial methionyl-tRNA synthetase Short name: MtMetRS |
Gene namesi | Name:MARS2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000247626.4 |
HGNCi | HGNC:25133 MARS2 |
MIMi | 609728 gene |
neXtProti | NX_Q96GW9 |
Pathology & Biotechi
Involvement in diseasei
Spastic ataxia 3, autosomal recessive (SPAX3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neurologic disorder characterized by cerebellar ataxia, ataxic gait, spasticity, and hyperreflexia. Other variable features include dysarthria, dysmetria, mild cognitive impairment, urinary urgency and dystonic positioning.
See also OMIM:611390Combined oxidative phosphorylation deficiency 25 (COXPD25)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA mitochondrial disorder resulting in developmental delay, growth failure, and sensorineural hearing loss.
See also OMIM:616430Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_073858 | 142 | R → W in COXPD25. 1 PublicationCorresponds to variant dbSNP:rs794726870Ensembl. | 1 |
Keywords - Diseasei
Deafness, Disease mutation, Neurodegeneration, Primary mitochondrial diseaseOrganism-specific databases
DisGeNETi | 92935 |
MalaCardsi | MARS2 |
MIMi | 611390 phenotype 616430 phenotype |
OpenTargetsi | ENSG00000247626 |
Orphaneti | 314603 Autosomal recessive spastic ataxia with leukoencephalopathy |
PharmGKBi | PA134863396 |
Chemistry databases
DrugBanki | DB00134 L-Methionine |
Polymorphism and mutation databases
BioMutai | MARS2 |
DMDMi | 85541638 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 29 | MitochondrionSequence analysisAdd BLAST | 29 | |
ChainiPRO_0000045493 | 30 – 593 | Methionine--tRNA ligase, mitochondrialAdd BLAST | 564 |
Proteomic databases
EPDi | Q96GW9 |
MaxQBi | Q96GW9 |
PaxDbi | Q96GW9 |
PeptideAtlasi | Q96GW9 |
PRIDEi | Q96GW9 |
PTM databases
iPTMneti | Q96GW9 |
PhosphoSitePlusi | Q96GW9 |
Expressioni
Gene expression databases
Bgeei | ENSG00000247626 |
CleanExi | HS_MARS2 |
Genevisiblei | Q96GW9 HS |
Organism-specific databases
HPAi | HPA035589 HPA035590 |
Interactioni
Protein-protein interaction databases
BioGridi | 12498816 interactors. |
IntActi | Q96GW9 1 interactor. |
STRINGi | 9606.ENSP00000282276 |
Structurei
3D structure databases
ProteinModelPortali | Q96GW9 |
SMRi | Q96GW9 |
ModBasei | Search... |
MobiDBi | Search... |
Family & Domainsi
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 52 – 62 | "HIGH" regionAdd BLAST | 11 | |
Motifi | 347 – 351 | "KMSKS" region | 5 |
Sequence similaritiesi
Belongs to the class-I aminoacyl-tRNA synthetase family.Curated
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG0436 Eukaryota COG0143 LUCA |
GeneTreei | ENSGT00550000075136 |
HOGENOMi | HOG000200401 |
HOVERGENi | HBG080702 |
InParanoidi | Q96GW9 |
KOi | K01874 |
OMAi | TYVWFDA |
OrthoDBi | EOG091G08H4 |
PhylomeDBi | Q96GW9 |
TreeFami | TF105709 |
Family and domain databases
CDDi | cd00814 MetRS_core, 1 hit |
Gene3Di | 3.40.50.6202 hits |
InterProi | View protein in InterPro IPR014758 Met-tRNA_synth IPR015413 Methionyl/Leucyl_tRNA_Synth IPR033911 MetRS_core IPR014729 Rossmann-like_a/b/a_fold IPR009080 tRNAsynth_Ia_anticodon-bd |
Pfami | View protein in Pfam PF09334 tRNA-synt_1g, 1 hit |
PRINTSi | PR01041 TRNASYNTHMET |
SUPFAMi | SSF47323 SSF47323, 1 hit |
TIGRFAMsi | TIGR00398 metG, 1 hit |
i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
Q96GW9-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MLRTSVLRLL GRTGASRLSL LEDFGPRYYS SGSLSAGDDA CDVRAYFTTP
60 70 80 90 100
IFYVNAAPHI GHLYSALLAD ALCRHRRLRG PSTAATRFST GTDEHGLKIQ
110 120 130 140 150
QAAATAGLAP TELCDRVSEQ FQQLFQEAGI SCTDFIRTTE ARHRVAVQHF
160 170 180 190 200
WGVLKSRGLL YKGVYEGWYC ASDECFLPEA KVTQQPGPSG DSFPVSLESG
210 220 230 240 250
HPVSWTKEEN YIFRLSQFRK PLQRWLRGNP QAITPEPFHH VVLQWLDEEL
260 270 280 290 300
PDLSVSRRSS HLHWGIPVPG DDSQTIYVWL DALVNYLTVI GYPNAEFKSW
310 320 330 340 350
WPATSHIIGK DILKFHAIYW PAFLLGAGMS PPQRICVHSH WTVCGQKMSK
360 370 380 390 400
SLGNVVDPRT CLNRYTVDGF RYFLLRQGVP NWDCDYYDEK VVKLLNSELA
410 420 430 440 450
DALGGLLNRC TAKRINPSET YPAFCTTCFP SEPGLVGPSV RAQAEDYALV
460 470 480 490 500
SAVATLPKQV ADHYDNFRIY KALEAVSSCV RQTNGFVQRH APWKLNWESP
510 520 530 540 550
VDAPWLGTVL HVALECLRVF GTLLQPVTPS LADKLLSRLG VSASERSLGE
560 570 580 590
LYFLPRFYGH PCPFEGRRLG PETGLLFPRL DQSRTWLVKA HRT
Sequence cautioni
The sequence AAH09115 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAH40934 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 535 – 536 | LL → MM in BAC92749 (Ref. 1) Curated | 2 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_073858 | 142 | R → W in COXPD25. 1 PublicationCorresponds to variant dbSNP:rs794726870Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB107013 mRNA Translation: BAC92749.1 AK098121 mRNA Translation: BAC05238.1 AC073058 Genomic DNA Translation: AAX93244.1 BC009115 mRNA Translation: AAH09115.1 Different initiation. BC040934 mRNA Translation: AAH40934.1 Different initiation. BC126294 mRNA Translation: AAI26295.1 |
CCDSi | CCDS33358.1 |
RefSeqi | NP_612404.1, NM_138395.3 |
UniGenei | Hs.744330 |
Genome annotation databases
Ensembli | ENST00000282276; ENSP00000282276; ENSG00000247626 |
GeneIDi | 92935 |
KEGGi | hsa:92935 |
UCSCi | uc002uuq.4 human |
Similar proteinsi
Entry informationi
Entry namei | SYMM_HUMAN | |
Accessioni | Q96GW9Primary (citable) accession number: Q96GW9 Secondary accession number(s): A0AVC3 Q8N7N4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 10, 2006 |
Last sequence update: | January 10, 2006 | |
Last modified: | January 31, 2018 | |
This is version 134 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |