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Aliases for MRM1 Gene

Aliases for MRM1 Gene

  • Mitochondrial RRNA Methyltransferase 1 2 3 5
  • 16S RRNA (Guanosine(1145)-2-O)-Methyltransferase 3 4
  • 16S RRNA [Gm1145] 2-O-Methyltransferase 3 4
  • Mitochondrial RRNA Methyltransferase 1 Homolog (S. Cerevisiae) 2
  • Mitochondrial Large Ribosomal RNA Ribose Methylase 3
  • Mitochondrial RRNA Methyltransferase 1 Homolog 3
  • RRNA Methyltransferase 1, Mitochondrial 3
  • CTB-75G16.3 3
  • EC 2.1.1.- 4

External Ids for MRM1 Gene

Previous GeneCards Identifiers for MRM1 Gene

  • GC17P032033
  • GC17P034958
  • GC17P030895
  • GC17P036609
  • GC17P036611
  • GC17P036612
  • GC17P036613
  • GC17P036614

Summaries for MRM1 Gene

GeneCards Summary for MRM1 Gene

MRM1 (Mitochondrial RRNA Methyltransferase 1) is a Protein Coding gene. Among its related pathways are rRNA processing in the nucleus and cytosol and Gene Expression. GO annotations related to this gene include poly(A) RNA binding and methyltransferase activity.

UniProtKB/Swiss-Prot for MRM1 Gene

  • S-adenosyl-L-methionine-dependent 2-O-ribose methyltransferase that catalyzes the formation of 2-O-methylguanosine at position 1145 (Gm1145) in the 16S mitochondrial large subunit ribosomal RNA (mtLSU rRNA), a universally conserved modification in the peptidyl transferase domain of the mtLSU rRNA.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MRM1 Gene

Genomics for MRM1 Gene

Regulatory Elements for MRM1 Gene

Enhancers for MRM1 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
GH17G036608 1 Ensembl ENCODE 5.5 +7.5 7514 1.0 HDAC1 CTCF CBX3 RB1 SIN3A ZIC2 RAD21 FOXK2 POLR2A SMC3 MRM1 GC17P036633
GH17G036611 0.9 ENCODE 5.5 +10.2 10183 1.4 ATF1 ZNF766 GLIS2 SCRT2 ZNF416 ZNF592 TFDP1 CREB3 SMARCA4 GLIS1 MRM1 GC17P036633
GH17G036918 1.5 FANTOM5 Ensembl ENCODE 1.3 +319.1 319142 5.3 PKNOX1 PTBP1 KLF17 SIN3A EGR1 ZNF366 ZSCAN5C FOS EGR2 ZNF263 MRM1 LOC102723471 GC17P036813
GH17G036589 1.7 FANTOM5 ENCODE dbSUPER 0.4 -5.1 -5051 13.7 HDGF PKNOX1 CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2 ZNF207 ZNHIT3 MYO19 ENSG00000274756 CCL4L2 DHRS11 GC17P036616 MRM1
GH17G036604 0.4 Ensembl 0.7 +2.5 2529 0.2 SCRT2 ZKSCAN8 MRM1 GC17P036633
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MRM1 on UCSC Golden Path with GeneCards custom track

Promoters for MRM1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000093592 728 2201 HDGF CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2 ZNF207 ZNF143

Genomic Location for MRM1 Gene

Chromosome:
17
Start:
36,601,572 bp from pter
End:
36,634,698 bp from pter
Size:
33,127 bases
Orientation:
Plus strand

Genomic View for MRM1 Gene

Genes around MRM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRM1 Gene

Proteins for MRM1 Gene

  • Protein details for MRM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6IN84-MRM1_HUMAN
    Recommended name:
    rRNA methyltransferase 1, mitochondrial
    Protein Accession:
    Q6IN84
    Secondary Accessions:
    • A8K8E2
    • Q96GK2
    • Q9H664

    Protein attributes for MRM1 Gene

    Size:
    353 amino acids
    Molecular mass:
    38638 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MRM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MRM1 Gene

Post-translational modifications for MRM1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MRM1 Gene

Antibody Products

  • Abcam antibodies for MRM1
  • Santa Cruz Biotechnology (SCBT) Antibodies for MRM1

No data available for DME Specific Peptides for MRM1 Gene

Domains & Families for MRM1 Gene

Gene Families for MRM1 Gene

Suggested Antigen Peptide Sequences for MRM1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6IN84

UniProtKB/Swiss-Prot:

MRM1_HUMAN :
  • Belongs to the class IV-like SAM-binding methyltransferase superfamily. RNA methyltransferase TrmH family.
Family:
  • Belongs to the class IV-like SAM-binding methyltransferase superfamily. RNA methyltransferase TrmH family.
genes like me logo Genes that share domains with MRM1: view

Function for MRM1 Gene

Molecular function for MRM1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + guanosine(1145) in 16S rRNA = S-adenosyl-L-homocysteine + 2-O-methylguanosine(1145) in 16S rRNA.
UniProtKB/Swiss-Prot Function:
S-adenosyl-L-methionine-dependent 2-O-ribose methyltransferase that catalyzes the formation of 2-O-methylguanosine at position 1145 (Gm1145) in the 16S mitochondrial large subunit ribosomal RNA (mtLSU rRNA), a universally conserved modification in the peptidyl transferase domain of the mtLSU rRNA.

Enzyme Numbers (IUBMB) for MRM1 Gene

Gene Ontology (GO) - Molecular Function for MRM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA,IEA 22658674
GO:0005515 protein binding IPI 25416956
GO:0008168 methyltransferase activity IEA --
GO:0008173 RNA methyltransferase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with MRM1: view
genes like me logo Genes that share phenotypes with MRM1: view

Animal Models for MRM1 Gene

MGI Knock Outs for MRM1:
  • Mrm1 tm2a(EUCOMM)Wtsi

Animal Model Products

CRISPR Products

miRNA for MRM1 Gene

miRTarBase miRNAs that target MRM1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MRM1 Gene

Localization for MRM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRM1 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MRM1 gene
Compartment Confidence
mitochondrion 5
cytosol 2
nucleus 1

Gene Ontology (GO) - Cellular Components for MRM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with MRM1: view

Pathways & Interactions for MRM1 Gene

genes like me logo Genes that share pathways with MRM1: view

Pathways by source for MRM1 Gene

Gene Ontology (GO) - Biological Process for MRM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000451 rRNA 2-O-methylation TAS --
GO:0000453 enzyme-directed rRNA 2-O-methylation IBA --
GO:0001510 RNA methylation IEA --
GO:0006364 rRNA processing IEA --
GO:0006396 RNA processing IEA --
genes like me logo Genes that share ontologies with MRM1: view

No data available for SIGNOR curated interactions for MRM1 Gene

Transcripts for MRM1 Gene

Unigene Clusters for MRM1 Gene

Mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MRM1 Gene

No ASD Table

Relevant External Links for MRM1 Gene

GeneLoc Exon Structure for
MRM1
ECgene alternative splicing isoforms for
MRM1

Expression for MRM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MRM1 Gene

Protein differential expression in normal tissues from HIPED for MRM1 Gene

This gene is overexpressed in Frontal cortex (32.1), Spinal cord (21.0), and Lung (11.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MRM1 Gene



NURSA nuclear receptor signaling pathways regulating expression of MRM1 Gene:

MRM1

SOURCE GeneReport for Unigene cluster for MRM1 Gene:

Hs.194864

Evidence on tissue expression from TISSUES for MRM1 Gene

  • Intestine(4.2)
  • Kidney(4.1)
  • Skin(4)
genes like me logo Genes that share expression patterns with MRM1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MRM1 Gene

Orthologs for MRM1 Gene

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

Orthologs for MRM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MRM1 34
  • 99.53 (n)
dog
(Canis familiaris)
Mammalia MRM1 34
  • 85.76 (n)
cow
(Bos Taurus)
Mammalia MRM1 34
  • 83.29 (n)
mouse
(Mus musculus)
Mammalia Mrm1 34 16
  • 83.01 (n)
rat
(Rattus norvegicus)
Mammalia Mrm1 34
  • 82.24 (n)
chicken
(Gallus gallus)
Aves MRM1 34
  • 57.92 (n)
zebrafish
(Danio rerio)
Actinopterygii mrm1 34
  • 51.82 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y45F3A.9 34
  • 43.41 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL269W 34
  • 45.79 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MRM1 34
  • 42.77 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F00946g 34
  • 39.28 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01404 34
  • 45.71 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC1347.13c 34
  • 41.6 (n)
Species where no ortholog for MRM1 was found in the sources mined by GeneCards:
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 MRM1 Gene

ENSEMBL:
Gene Tree for MRM1 (if available)
TreeFam:
Gene Tree for MRM1 (if available)

Paralogs for MRM1 Gene

No data available for Paralogs for MRM1 Gene

Variants for MRM1 Gene

Sequence variations from dbSNP and Humsavar for MRM1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000039620 -- 36,630,757(+) AGTTA(A/G)GAGAT intron-variant
rs1000098796 -- 36,601,508(+) GGAGG(A/C/T)GCTGT upstream-variant-2KB
rs1000165338 -- 36,630,150(+) CCAAA(C/T)GCAGG intron-variant, reference, synonymous-codon
rs1000187935 -- 36,619,451(+) TAACT(C/T)GAGGT intron-variant
rs1000205771 -- 36,602,331(+) AAGGT(-/G)CATCA nc-transcript-variant, reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for MRM1 Gene

Variant ID Type Subtype PubMed ID
dgv3156n100 CNV gain 25217958
esv2758686 CNV gain+loss 17122850
esv3640474 CNV gain 21293372
esv3640475 CNV gain 21293372
nsv469760 CNV loss 16826518
nsv833429 CNV gain 17160897

Variation tolerance for MRM1 Gene

Residual Variation Intolerance Score: 52.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.14; 69.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MRM1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MRM1 Gene

Disorders for MRM1 Gene

Relevant External Links for MRM1

Genetic Association Database (GAD)
MRM1
Human Genome Epidemiology (HuGE) Navigator
MRM1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MRM1

No disorders were found for MRM1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MRM1 Gene

Publications for MRM1 Gene

  1. Mitochondrial ribosomal RNA (rRNA) methyltransferase family members are positioned to modify nascent rRNA in foci near the mitochondrial DNA nucleoid. (PMID: 24036117) Lee K.W. … Bogenhagen D.F. (J. Biol. Chem. 2013) 2 3 4 64
  2. Assignment of 2'-O-methyltransferases to modification sites on the mammalian mitochondrial large subunit 16S rRNA. (PMID: 25074936) Lee K.W. … Bogenhagen D.F. (J. Biol. Chem. 2014) 3 4 64
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for MRM1 Gene

Sources for MRM1 Gene

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