Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MIR6758 Gene

Subcategory (RNA class) for MIR6758 Gene

miRNA

Quality Score for this RNA gene is

3

Aliases for MIR6758 Gene

  • MicroRNA 6758 2 3
  • Methionyl-TRNA Synthetase 4 5
  • EC 6.1.1.10 4 61
  • MARS 4 5
  • MicroRNA Mir-6758 3
  • Hsa-Mir-6758 3
  • METRS 4

External Ids for MIR6758 Gene

Previous GeneCards Identifiers for MIR6758 Gene

  • GC12U901933

Summaries for MIR6758 Gene

Entrez Gene Summary for MIR6758 Gene

  • microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]

GeneCards Summary for MIR6758 Gene

MIR6758 (MicroRNA 6758) is an RNA Gene, and is affiliated with the miRNA class. Diseases associated with MIR6758 include Interstitial Lung And Liver Disease and Aminoaciduria. Among its related pathways are Metabolism and tRNA Aminoacylation.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MIR6758 Gene

Genomics for MIR6758 Gene

Regulatory Elements for MIR6758 Gene

Enhancers for MIR6758 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F057470 1 ENCODE 0.8 -4.2 -4194 1.1 ATF1 SIN3A GLIS2 DEK SP3 SMARCA4 GLIS1 KDM1A CTCF KLF1 ARHGAP9 MBD6 MIR616 DDIT3 DCTN2 KIF5A MARS MIR6758 GLI1
GH12F057475 0.9 ENCODE 0.8 +3.5 3451 6.8 HDGF TBP TBL1XR1 KLF17 EGR1 ZNF143 ETV6 ZNF263 ZBTB11 USF2 ARHGAP9 DCTN2 NEMP1 MARS ATP23 MIR6758
GH12F057457 1.4 FANTOM5 ENCODE 0.4 -15.0 -14955 5.9 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 ZNF2 YY1 ARHGAP9 ENSG00000224713 ARHGEF25 NEMP1 GLI1 MARS MIR6758
GH12F057487 1.1 ENCODE 0.4 +13.2 13218 2.9 HDGF PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF416 ZNF207 BAZ2A CTDSP2 RN7SL809P NAB2 NEMP1 DCTN2 LOC283387 RNU6-343P AGAP2-AS1 RBMS2
GH12F057483 0.6 Ensembl ENCODE 0.4 +8.2 8153 0.6 HDGF DCTN2 ARHGAP9 MARS MIR6758
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MIR6758 on UCSC Golden Path with GeneCards custom track

Promoters for MIR6758 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001463920 1655 2201 HDGF TBP TBL1XR1 EGR1 ZNF143 ETV6 ZNF263 ZBTB11 MXD4 ELF1

Genomic Location for MIR6758 Gene

Chromosome:
12
Start:
57,475,445 bp from pter
End:
57,517,569 bp from pter
Size:
42,125 bases
Orientation:
Plus strand

Genomic View for MIR6758 Gene

Genes around MIR6758 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MIR6758 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MIR6758 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MIR6758 Gene

Proteins for MIR6758 Gene

  • Protein details for MIR6758 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P56192-SYMC_HUMAN
    Recommended name:
    Methionine--tRNA ligase, cytoplasmic
    Protein Accession:
    P56192
    Secondary Accessions:
    • B3KVK7
    • Q14895
    • Q53H14
    • Q96A15
    • Q96BZ0
    • Q9NSE0

    Protein attributes for MIR6758 Gene

    Size:
    900 amino acids
    Molecular mass:
    101116 Da
    Quaternary structure:
    • 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.
    • 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.

    Three dimensional structures from OCA and Proteopedia for MIR6758 Gene

    Alternative splice isoforms for MIR6758 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MIR6758 Gene

Selected DME Specific Peptides for MIR6758 Gene

P56192:
  • NQWLEWEA
  • ITRDLKWG
  • CGKLINA
  • ARGDQCD
  • LLEKVRIRDALR
  • ISRHGNQYIQVNEPWK
  • RPEGQDSAFSW
  • TEYLNYEDGKFSKS
  • FDIFGRTT
  • LSADVFAR
  • EICDKYH
  • KVFYVWFDA
  • ALPYVNN
  • LITSALPY
  • KDNVPFH
  • GKFSKSRGVGVFG
  • SITANYTD

Post-translational modifications for MIR6758 Gene

  • Ubiquitination at Lys 191, Lys 375, Lys 500, Lys 663, and Lys 726
  • Modification sites at PhosphoSitePlus

Domains & Families for MIR6758 Gene

Gene Families for MIR6758 Gene

Graphical View of Domain Structure for InterPro Entry

P56192

UniProtKB/Swiss-Prot:

SYMC_HUMAN :
  • Contains 1 GST C-terminal domain.
  • Belongs to the class-I aminoacyl-tRNA synthetase family.
Domain:
  • Contains 1 GST C-terminal domain.
  • Contains 1 WHEP-TRS domain.
Family:
  • Belongs to the class-I aminoacyl-tRNA synthetase family.
genes like me logo Genes that share domains with MIR6758: view

No data available for Suggested Antigen Peptide Sequences for MIR6758 Gene

Function for MIR6758 Gene

Molecular function for MIR6758 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + L-methionine + tRNA(Met) = AMP + diphosphate + L-methionyl-tRNA(Met).

Enzyme Numbers (IUBMB) for MIR6758 Gene

Gene Ontology (GO) - Molecular Function for MIR6758 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003723 RNA binding IEA --
GO:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0004825 methionine-tRNA ligase activity IEA --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with MIR6758: view

Animal Model Products

miRNA Products

Clone Products

Flow Cytometry Products

No data available for Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MIR6758 Gene

Localization for MIR6758 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MIR6758 Gene

Gene Ontology (GO) - Cellular Components for MIR6758 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA --
GO:0070062 extracellular exosome IDA --
genes like me logo Genes that share ontologies with MIR6758: view

No data available for Subcellular locations from COMPARTMENTS for MIR6758 Gene

Pathways & Interactions for MIR6758 Gene

genes like me logo Genes that share pathways with MIR6758: view

Gene Ontology (GO) - Biological Process for MIR6758 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006418 tRNA aminoacylation for protein translation IEA --
GO:0006431 methionyl-tRNA aminoacylation IEA --
genes like me logo Genes that share ontologies with MIR6758: view

No data available for SIGNOR curated interactions for MIR6758 Gene

Transcripts for MIR6758 Gene

mRNA/cDNA for MIR6758 Gene

(36) Ensembl transcripts including schematic representations, and UCSC links where relevant :

miRNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MIR6758 Gene

No ASD Table

Relevant External Links for MIR6758 Gene

GeneLoc Exon Structure for
MIR6758
ECgene alternative splicing isoforms for
MIR6758

Expression for MIR6758 Gene

NURSA nuclear receptor signaling pathways regulating expression of MIR6758 Gene:

MIR6758
No Expression Related Data Available

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 MIR6758 Gene

Orthologs for MIR6758 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MIR6758 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MARS 35
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MARS 35
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MARS 35
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mars 35
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MARS 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves MARS 35
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MARS 35
  • 68 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii mars 35
  • 61 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG15100 35
  • 44 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mars-1 35
  • 40 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MES1 35 37
  • 43 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2777 35
  • 65 (a)
OneToOne
Species where no ortholog for MIR6758 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for MIR6758 Gene

ENSEMBL:
Gene Tree for MIR6758 (if available)
TreeFam:
Gene Tree for MIR6758 (if available)

Paralogs for MIR6758 Gene

No data available for Paralogs for MIR6758 Gene

Variants for MIR6758 Gene

Sequence variations from dbSNP and Humsavar for MIR6758 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs143592405 Pathogenic 57,512,300(+) TTGCT(C/T)AGCCC intron-variant, upstream-variant-2KB, reference, missense
rs201555303 Pathogenic 57,512,036(+) CACTA(C/T)TGGCT nc-transcript-variant, upstream-variant-2KB, reference, missense
rs587777718 Pathogenic 57,512,849(+) TCTGG(C/T)GCTTC nc-transcript-variant, downstream-variant-500B, reference, missense
rs756021768 Pathogenic 57,512,811(+) TGGGG(A/G/T)CATGG nc-transcript-variant, downstream-variant-500B, reference, missense
rs111515147 -- 57,511,214(+) GCCCT(C/T)AAGTG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for MIR6758 Gene

Variant ID Type Subtype PubMed ID
nsv428283 CNV gain 18775914
nsv469411 CNV loss 19166990
nsv482992 CNV gain+loss 15286789
nsv559034 CNV loss 21841781
esv3419248 CNV duplication 20981092
esv2759901 CNV gain 17122850
dgv2651n54 CNV loss 21841781

Relevant External Links for MIR6758 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MIR6758

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for MIR6758 Gene

Disorders for MIR6758 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MIR6758 Gene - From: GeneCards

Disorder Aliases PubMed IDs
interstitial lung and liver disease
  • infantile liver failure syndrome 2
aminoaciduria
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SYMC_HUMAN
  • 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.
  • 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.

Relevant External Links for MIR6758

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MIR6758
genes like me logo Genes that share disorders with MIR6758: view

No data available for Genatlas for MIR6758 Gene

Publications for MIR6758 Gene

  1. Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on RAcunion Island. (PMID: 25913036) Hadchouel A. … Strom T.M. (Am. J. Hum. Genet. 2015) 4 64
  2. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y. … Zou H. (J. Proteomics 2014) 4 64
  3. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H. … Mohammed S. (J. Proteome Res. 2013) 4 64
  4. Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2. (PMID: 23729695) Gonzalez M. … ZA1chner S. (J. Neurol. Neurosurg. Psychiatr. 2013) 4 64
  5. Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype. (PMID: 24103465) van Meel E. … Cole F.S. (BMC Med. Genet. 2013) 4 64

Products for MIR6758 Gene

Sources for MIR6758 Gene

Content
Loading form....