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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 complex and catalyzes the ligation of methionine to tRNA molecules. [provided by RefSeq, Jan 2011] See more...
Aliases for MARS1 Gene
Aliases for MARS1 Gene
External Ids for MARS1 Gene
- HGNC: 6898
- Entrez Gene: 4141
- Ensembl: ENSG00000166986
- OMIM: 156560
- UniProtKB: P56192
Previous HGNC Symbols for MARS1 Gene
- MARS
Summaries for MARS1 Gene
-
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 complex and catalyzes the ligation of methionine to tRNA molecules. [provided by RefSeq, Jan 2011]
GeneCards Summary for MARS1 Gene
MARS1 (Methionyl-TRNA Synthetase 1) is a Protein Coding gene. Diseases associated with MARS1 include Interstitial Lung And Liver Disease and Charcot-Marie-Tooth Disease, Axonal, Type 2U. Among its related pathways are tRNA Aminoacylation and One carbon pool by folate. An important paralog of this gene is VARS1.
UniProtKB/Swiss-Prot Summary for MARS1 Gene
-
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 synthesis of ribosomal RNA in the nucleolus (PubMed:10791971).
Additional gene information for MARS1 Gene
- HGNC(6898)
- Entrez Gene(4141)
- Ensembl(ENSG00000166986)
- OMIM(156560)
- UniProtKB(P56192)
- Open Targets Platform(ENSG00000166986)
- Monarch Initiative
- Search for MARS1 at DataMed
- Search for MARS1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MARS1 Gene
Genomics for MARS1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for MARS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around MARS1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MARS1
Genomic Locations for MARS1 Gene
Genomic Locations for MARS1 Gene
- chr12:57,475,445-57,517,569
- (GRCh38/hg38)
- Size:
- 42,125 bases
- Orientation:
- Plus strand
- chr12:57,869,228-57,911,352
- (GRCh37/hg19)
- Size:
- 42,125 bases
- Orientation:
- Plus strand
Genomic View for MARS1 Gene
Genes around MARS1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q13.3 by HGNC
- 12q13.3 by Entrez Gene
- 12q13.3 by Ensembl
MARS1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for MARS1 Gene
Proteins for MARS1 Gene
-
Protein details for MARS1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P56192-SYMC_HUMAN
- Recommended name:
- Methionine--tRNA ligase, cytoplasmic
- Protein Accession:
- P56192
- B3KVK7
- Q14895
- Q53H14
- Q96A15
- Q96BZ0
- Q9NSE0
Protein attributes for MARS1 Gene
- Size:
- 900 amino acids
- Molecular mass:
- 101116 Da
- Quaternary structure:
-
- Monomer (PubMed:11714285). Part of a multisubunit complex that groups tRNA ligases for Arg (RARS1), Asp (DARS1), Gln (QARS1), Ile (IARS1), Leu (LARS1), Lys (KARS1), Met (MARS1) the bifunctional ligase for Glu and Pro (EPRS1) and the auxiliary subunits AIMP1/p43, AIMP2/p38 and EEF1E1/p18 (PubMed:19131329, PubMed:19289464, Ref.24, PubMed:26472928). Forms a linear complex that contains MARS1, EEF1E1, EPRS1 and AIMP2 that is at the core of the multisubunit complex (PubMed:26472928).
Three dimensional structures from OCA and Proteopedia for MARS1 Gene
Selected DME Specific Peptides for MARS1 Gene
- P56192:
-
- NQWLEWEA
- ITRDLKWG
- CGKLINA
- ARGDQCD
- LLEKVRIRDALR
- ISRHGNQYIQVNEPWK
- RPEGQDSAFSW
- TEYLNYEDGKFSKS
- FDIFGRTT
- LSADVFAR
- EICDKYH
- KVFYVWFDA
- ALPYVNN
- LITSALPY
- KDNVPFH
- GKFSKSRGVGVFG
- SITANYTD
Post-translational modifications for MARS1 Gene
Other Protein References for MARS1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-MARS monoclonal antibody, clone FQS0984(C)
-
Custom Antibody ServicesOriGene Antibodies for MARS1
- Novus Biologicals Antibodies for MARS1
-
Abcam antibodies for MARS1
- Invitrogen Antibodies for MARS1 (AFLGC-MARS1)
-
Boster Bio Antibodies for MARS1
Protein Products
- Creative Biomart Recombinant Human MARS, His-tagged
-
OriGene Purified Proteins for MARS1
- Search Origene for MassSpec and Protein Over-expression Lysates for MARS1
- Origene Custom Protein Services for MARS1
- antibodies-online: Show 4 available MARS Proteins ranked by validation data
- Compare Top MARS Proteins
-
Quality Products:
Domains & Families for MARS1 Gene
Gene Families for MARS1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for MARS1 Gene
- InterPro:
- Blocks:
-
- Aminoacyl-tRNA synthetase, class Ia
- Methionyl-tRNA synthetase signature
- ProtoNet:
Suggested Antigen Peptide Sequences for MARS1 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ16674 fis, clone THYMU3008136, highly similar to Methionyl-tRNA synthetase (EC 6.1.1.10) (B3KVK7_HUMAN)
- Methionine--tRNA ligase (SYMC_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P56192- Family:
-
- Belongs to the class-I aminoacyl-tRNA synthetase family.
Function for MARS1 Gene
Molecular function for MARS1 Gene
- UniProtKB/Swiss-Prot 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 synthesis of ribosomal RNA in the nucleolus (PubMed:10791971).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + L-methionine + tRNA(Met) = AMP + diphosphate + L-methionyl-tRNA(Met); Xref=Rhea:RHEA:13481, Rhea:RHEA-COMP:9667, Rhea:RHEA-COMP:9698, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57844, ChEBI:CHEBI:78442, ChEBI:CHEBI:78530, ChEBI:CHEBI:456215; EC=6.1.1.10; Evidence={ECO:0000269|PubMed:11714285};.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Enzyme activity is increased by spermidine, EEF1A1, and when the Mg(2+) concentration is increased from 5 mM to 13 mM (in vitro), possibly by promoting the dissociation of the complex between the enzyme and its product.
Enzyme Numbers (IUBMB) for MARS1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000049 | tRNA binding | IEA | -- |
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0003723 | RNA binding | IEA | -- |
| GO:0004812 | aminoacyl-tRNA ligase activity | IEA | -- |
| GO:0004825 | methionine-tRNA ligase activity | IEA,TAS | -- |
Phenotypes for MARS1 Gene
- GenomeRNAi human phenotypes for MARS1:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Negative genetic interaction between BLM-/- and BLM+/+
- Increased G1 DNA content
- Increased gamma-H2AX phosphorylation
- Decreased shRNA abundance
- Increased ionizing radiation sensitivity
- Increased epidermal growth factor (EGF) endocytosis, increased transferrin (TF) endocytosis
Animal Model Products
-
Taconic Biosciences Mouse Models for MARS1
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MARS1 - Select products 50% OFF >
- * MARS1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MARS1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MARS1
miRNA for MARS1 Gene
- miRTarBase miRNAs that target MARS1
-
- hsa-miR-16-5p (MIRT031964)
- hsa-let-7b-5p (MIRT032489)
- hsa-miR-505-5p (MIRT037977)
- hsa-miR-296-3p (MIRT038386)
- hsa-miR-615-3p (MIRT040324)
- hsa-miR-193b-3p (MIRT041304)
- hsa-miR-484 (MIRT042166)
- hsa-miR-339-5p (MIRT042790)
- hsa-miR-185-5p (MIRT045372)
- hsa-miR-222-3p (MIRT046729)
- hsa-miR-10a-5p (MIRT047668)
- hsa-miR-92a-3p (MIRT049733)
- hsa-miR-541-5p (MIRT440272)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MARS1
- Browse OriGene Inhibitory RNA Products For MARS1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MARS1
Clone Products
- Applied Biological Materials (abm): Clones for MARS1 - Select products 50% OFF >
- * MARS1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for MARS1
- Addgene plasmids for MARS1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MARS1
No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for MARS1 Gene
Localization for MARS1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for MARS1 Gene
- Cytoplasm, cytosol. Nucleus, nucleolus. Note=Localizes to the nucleolus in proliferative cells but disappears in quiescent cells. {ECO:0000269 PubMed:10791971}.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| extracellular | 4 |
| nucleus | 4 |
| plasma membrane | 2 |
| mitochondrion | 2 |
| peroxisome | 2 |
| cytoskeleton | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Cytosol (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005730 | nucleolus | IDA | 10791971 |
| GO:0005737 | cytoplasm | IDA | 10791971 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0016020 | membrane | HDA | 19946888 |
Pathways & Interactions for MARS1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | tRNA Aminoacylation | ||
| 2 | Metabolism |
.40
|
|
| 3 | Viral mRNA Translation | ||
| 4 | Selenocompound metabolism | ||
| 5 | Gene Expression |
.48
|
|
Pathways by source for MARS1 Gene
7 Reactome pathways for MARS1 Gene
3 KEGG pathways for MARS1 Gene
1 GeneGo (Thomson Reuters) pathway for MARS1 Gene
- Methionine metabolism
Interacting Proteins for MARS1 Gene
GPS-Prot Interaction Network for MARS1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006412 | translation | IEA | -- |
| GO:0006418 | tRNA aminoacylation for protein translation | IEA,TAS | -- |
| GO:0006431 | methionyl-tRNA aminoacylation | IEA,IDA | 11714285 |
| GO:0009267 | cellular response to starvation | IDA | 10791971 |
| GO:0009303 | rRNA transcription | IMP | 10791971 |
Drugs & Compounds for MARS1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Methionine | Approved | Nutra | Enzyme, substrate | 118 | ||
| Phosphoric acid | Approved | Pharma | 0 | |||
| Selenomethionine | Approved, Investigational | Pharma | 0 | |||
| Adenosine monophosphate | Approved, Investigational | Nutra | 0 | |||
| ATP | Investigational | Nutra | Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| pyrophosphate |
|
14000-31-8 |
|
Drug Products
- Creative Biomart Recombinant Human MARS, His-tagged
Transcripts for MARS1 Gene
mRNA/cDNA for MARS1 Gene
- 1 REFSEQ mRNAs :
- 17 NCBI additional mRNA sequence :
- 35 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000262027 2797 nts (view in UCSC)
- ENST00000447721 1328 nts (view in UCSC)
- ENST00000537638 3592 nts (view in UCSC)
- ENST00000545888 2979 nts (view in UCSC)
- ENST00000546481 561 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MARS1 - Select products 50% OFF >
- * MARS1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MARS1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MARS1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MARS1
- Browse OriGene Inhibitory RNA Products For MARS1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MARS1
Clone Products
- Applied Biological Materials (abm): Clones for MARS1 - Select products 50% OFF >
- * MARS1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for MARS1
- Addgene plasmids for MARS1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MARS1
Relevant External Links for MARS1 Gene
- GeneLoc Exon Structure for
- MARS1
Expression for MARS1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MARS1
SOURCE GeneReport for Unigene cluster for MARS1 Gene:
Hs.632707Evidence on tissue expression from TISSUES for MARS1 Gene
- Nervous system(5)
- Muscle(4.9)
- Intestine(4.8)
- Liver(4.6)
- Blood(4.5)
- Lung(4)
- Skin(3.6)
- Kidney(3)
- Eye(2.6)
- Heart(2.5)
- Stomach(2.3)
- Pancreas(2)
- Spleen(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for MARS1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- epiglottis
- head
- larynx
- neck
Thorax:
- lung
Abdomen:
- liver
Limb:
- digit
- finger
- foot
- hand
- lower limb
- nail
- shin
- toe
- upper limb
General:
- peripheral nerve
- peripheral nervous system
- skin
- spinal cord
No Expression Related Data Available
Primer Products
-
OriGene qPCR primer pairs for MARS1
-
OriGene qPCR primer pairs and template standards for MARS1
No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for MARS1 Gene
Orthologs for MARS1 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | MARS 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | MARS 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | MARS 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Mars 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Mars 30 31 |
|
OneToOne | |
| Mars1 17 |
|
||||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | MARS 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | MARS 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | MARS 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mars 30 |
|
||
| Str.16107 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC69150 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | mars 30 31 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007891 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG15100 30 31 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | mars-1 31 |
|
OneToOne | |
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AGR332C 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MES1 30 31 33 |
|
OneToOne | |
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0A09647g 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os10g0400100 30 |
|
||
| Barley (Hordeum vulgare) |
Liliopsida | Hv.795 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.2777 31 |
|
OneToOne | |
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU07451 30 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | rar1 30 |
|
||
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.55 30 |
|
- Species where no ortholog for MARS1 was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Oppossum (Monodelphis domestica)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for MARS1 Gene
- ENSEMBL:
- Gene Tree for MARS1 (if available)
- TreeFam:
- Gene Tree for MARS1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for MARS1: view image
Paralogs for MARS1 Gene
Variants for MARS1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MARS1 Gene
| SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 635457 | Uncertain Significance: Charcot-Marie-Tooth disease, axonal, type 2u | 57,516,518(+) | G/C | MISSENSE_VARIANT | |
| 641147 | Uncertain Significance: Charcot-Marie-Tooth disease, axonal, type 2u; Interstitial lung and liver disease | 57,515,024(+) | C/T | MISSENSE_VARIANT | |
| 646980 | Uncertain Significance: Charcot-Marie-Tooth disease, axonal, type 2u; Interstitial lung and liver disease | 57,515,225(+) | G/A | MISSENSE_VARIANT | |
| 648138 | Uncertain Significance: Charcot-Marie-Tooth disease, axonal, type 2u; Interstitial lung and liver disease | 57,516,556(+) | C/T | MISSENSE_VARIANT | |
| 654957 | Uncertain Significance: Charcot-Marie-Tooth disease, axonal, type 2u; Interstitial lung and liver disease | 57,500,507(+) | T/G | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv2651n54 | CNV | loss | 21841781 |
| esv1408918 | CNV | insertion | 17803354 |
| esv2759901 | CNV | gain | 17122850 |
| esv3419248 | CNV | duplication | 20981092 |
| nsv1071035 | CNV | deletion | 25765185 |
| nsv1144629 | CNV | deletion | 24896259 |
| nsv428283 | CNV | gain | 18775914 |
| nsv469411 | CNV | loss | 19166990 |
| nsv482992 | CNV | gain+loss | 15286789 |
| nsv559034 | CNV | loss | 21841781 |
| nsv819781 | CNV | loss | 19587683 |
Residual Variation Intolerance Score:
29.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.25;
40.46% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for MARS1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- MARS1
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MARS1 Gene
Disorders for MARS1 Gene
(23) MalaCards diseases for MARS1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| interstitial lung and liver disease |
|
|
| charcot-marie-tooth disease, axonal, type 2u |
|
|
| pulmonary alveolar proteinosis |
|
|
| autosomal recessive spastic paraplegia type 70 |
|
|
| charcot-marie-tooth disease |
|
|
Search MARS1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
SYMC_HUMAN- Interstitial lung and liver disease (ILLD) [MIM:615486]: An autosomal recessive, life-threatening disorder characterized by respiratory insufficiency and progressive liver disease with onset in infancy or early childhood. Clinical features include failure to thrive, hypotonia, intermittent lactic acidosis, aminoaciduria, hypothyroidism, interstitial lung disease, pulmonary alveolar proteinosis, anemia, and liver canalicular cholestasis, steatosis, and iron deposition. {ECO:0000269 PubMed:24103465, ECO:0000269 PubMed:25913036}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Charcot-Marie-Tooth disease 2U (CMT2U) [MIM:616280]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2U is a slowly progressive, autosomal dominant form characterized by late-adult onset. {ECO:0000269 PubMed:23729695, ECO:0000269 PubMed:24354524}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for MARS1
No data available for Genatlas for MARS1 Gene
Publications for MARS1 Gene
- Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. (PMID: 24482476) Novarino G … Gleeson JG (Science (New York, N.Y.) 2014) 2 3 4
- Dissection of the structural organization of the aminoacyl-tRNA synthetase complex. (PMID: 19131329) Kaminska M … Mirande M (The Journal of biological chemistry 2009) 3 4 23
- The appended C-domain of human methionyl-tRNA synthetase has a tRNA-sequestering function. (PMID: 11714285) Kaminska M … Mirande M (Biochemistry 2001) 3 4 23
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Products for MARS1 Gene
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