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Aliases for MRM3 Gene

Aliases for MRM3 Gene

  • Mitochondrial RRNA Methyltransferase 3 2 3 5
  • 16S RRNA (Guanosine(1370)-2-O)-Methyltransferase 3 4
  • 16S RRNA [Gm1370] 2-O-Methyltransferase 3 4
  • RNA Methyltransferase-Like Protein 1 3 4
  • RNA Methyltransferase Like 1 2 3
  • RNMTL1 3 4
  • RRNA Methyltransferase 3, Mitochondrial 3
  • Putative RNA Methyltransferase 3
  • EC 2.1.1.- 4
  • EC 2.1.1 61
  • RMTL1 3

External Ids for MRM3 Gene

Previous HGNC Symbols for MRM3 Gene

  • RNMTL1

Summaries for MRM3 Gene

Entrez Gene Summary for MRM3 Gene

  • Efficient translation of mitochondrial-derived transcripts requires proper assembly of the large subunit of the mitochondrial ribosome. Central to the biogenesis of this large subunit is the A-loop of mitochondrial 16S rRNA, which is modified by three rRNA methyltransferases located near mtDNA nucleoids. The protein encoded by this gene methylates G(1370) of 16S rRNA, and this modification is necessary for proper ribosomal large subnit assembly. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

GeneCards Summary for MRM3 Gene

MRM3 (Mitochondrial RRNA Methyltransferase 3) is a Protein Coding gene. Among its related pathways are rRNA processing in the nucleus and cytosol and Gene Expression.

UniProtKB/Swiss-Prot for MRM3 Gene

  • S-adenosyl-L-methionine-dependent 2-O-ribose methyltransferase that catalyzes the formation of 2-O-methylguanosine at position 1370 (Gm1370) in the 16S mitochondrial large subunit ribosomal RNA (mtLSU rRNA), a conserved modification in the peptidyl transferase domain of the mtLSU rRNA.

Gene Wiki entry for MRM3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MRM3 Gene

Genomics for MRM3 Gene

Regulatory Elements for MRM3 Gene

Enhancers for MRM3 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
GH17G000781 1.1 ENCODE 17.4 +0.0 27 2.2 HNRNPUL1 PKNOX1 MLX CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 MRM3 ENSG00000262228 GEMIN4 GLOD4
GH17G000750 1.1 ENCODE 16.6 -29.9 -29947 3.5 HDGF PKNOX1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF207 FAM57A MRM3 DBIL5P GLOD4 VPS53 TIMM22 GEMIN4 PIR42448
GH17G000728 1.3 ENCODE dbSUPER 12.6 -51.1 -51133 6.0 ARID4B SIN3A GLI4 ZNF48 ZNF121 GLIS2 ZNF207 FOS KLF7 ZNF263 FAM57A VPS53 MRM3 GEMIN4 GC17M000727
GH17G000931 1.5 Ensembl ENCODE dbSUPER 10.3 +151.8 151816 4.3 FOXA2 MLX FEZF1 ZNF2 ZNF121 GLIS2 GATA2 FOS SP5 JUNB NXN GEMIN4 TIMM22 GLOD4 MRM3 SMYD4 PIR34365 PIR40960
GH17G000975 1.5 Ensembl ENCODE dbSUPER 10.3 +196.2 196151 6.7 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 FOS DEK ZNF263 GLOD4 MRM3 NXN ENSG00000263017
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MRM3 on UCSC Golden Path with GeneCards custom track

Promoters for MRM3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000089942 27 1801 HNRNPUL1 PKNOX1 MLX CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766

Genomic Location for MRM3 Gene

Chromosome:
17
Start:
782,273 bp from pter
End:
792,509 bp from pter
Size:
10,237 bases
Orientation:
Plus strand

Genomic View for MRM3 Gene

Genes around MRM3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRM3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRM3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRM3 Gene

Proteins for MRM3 Gene

  • Protein details for MRM3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HC36-MRM3_HUMAN
    Recommended name:
    rRNA methyltransferase 3, mitochondrial
    Protein Accession:
    Q9HC36
    Secondary Accessions:
    • Q53GN1
    • Q86VC3
    • Q96F76
    • Q9NVQ5

    Protein attributes for MRM3 Gene

    Size:
    420 amino acids
    Molecular mass:
    47020 Da
    Quaternary structure:
    No Data Available

neXtProt entry for MRM3 Gene

Selected DME Specific Peptides for MRM3 Gene

Q9HC36:
  • SLNSAMAA
  • VLLTKGCVD
  • KGCVDAWEPKVLR

Post-translational modifications for MRM3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MRM3 Gene

Domains & Families for MRM3 Gene

Gene Families for MRM3 Gene

Suggested Antigen Peptide Sequences for MRM3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9HC36

UniProtKB/Swiss-Prot:

MRM3_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 MRM3: view

Function for MRM3 Gene

Molecular function for MRM3 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + guanosine(1370) in 16S rRNA = S-adenosyl-L-homocysteine + 2-O-methylguanosine(1370) 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 1370 (Gm1370) in the 16S mitochondrial large subunit ribosomal RNA (mtLSU rRNA), a conserved modification in the peptidyl transferase domain of the mtLSU rRNA.

Enzyme Numbers (IUBMB) for MRM3 Gene

Gene Ontology (GO) - Molecular Function for MRM3 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 MRM3: view
genes like me logo Genes that share phenotypes with MRM3: view

Animal Models for MRM3 Gene

MGI Knock Outs for MRM3:
  • Mrm3 tm1.1(KOMP)Vlcg

Animal Model Products

miRNA for MRM3 Gene

miRTarBase miRNAs that target MRM3

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MRM3 Gene

Localization for MRM3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRM3 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 MRM3 gene
Compartment Confidence
mitochondrion 5
cytoskeleton 2
nucleus 2
cytosol 2

Gene Ontology (GO) - Cellular Components for MRM3 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 MRM3: view

Pathways & Interactions for MRM3 Gene

genes like me logo Genes that share pathways with MRM3: view

Pathways by source for MRM3 Gene

Gene Ontology (GO) - Biological Process for MRM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000451 rRNA 2-O-methylation TAS --
GO:0001510 RNA methylation IEA --
GO:0006364 rRNA processing IEA --
GO:0006396 RNA processing IEA --
GO:0032259 methylation IEA --
genes like me logo Genes that share ontologies with MRM3: view

No data available for SIGNOR curated interactions for MRM3 Gene

Drugs & Compounds for MRM3 Gene

No Compound Related Data Available

Transcripts for MRM3 Gene

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MRM3 Gene

No ASD Table

Relevant External Links for MRM3 Gene

GeneLoc Exon Structure for
MRM3
ECgene alternative splicing isoforms for
MRM3

Expression for MRM3 Gene

NURSA nuclear receptor signaling pathways regulating expression of MRM3 Gene:

MRM3

mRNA Expression by UniProt/SwissProt for MRM3 Gene:

Q9HC36-MRM3_HUMAN
Tissue specificity: Expressed at same level in normal liver and hepatocarcinoma.

Evidence on tissue expression from TISSUES for MRM3 Gene

  • Nervous system(4.4)
  • Kidney(4.2)
  • Liver(4.2)
  • Skin(4.1)

Primer Products

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 Phenotype-based relationships between genes and organs from Gene ORGANizer for MRM3 Gene

Orthologs for MRM3 Gene

This gene was present in the common ancestor of animals.

Orthologs for MRM3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RNMTL1 35 34
  • 99.29 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RNMTL1 34 35
  • 86.43 (n)
mouse
(Mus musculus)
Mammalia Rnmtl1 34 35
  • 85.31 (n)
Mrm3 16
cow
(Bos Taurus)
Mammalia RNMTL1 34 35
  • 85.21 (n)
rat
(Rattus norvegicus)
Mammalia Rnmtl1 34
  • 84.61 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RNMTL1 35
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RNMTL1 35
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves RNMTL1 34 35
  • 62.65 (n)
lizard
(Anolis carolinensis)
Reptilia RNMTL1 35
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rnmtl1 34
  • 60.19 (n)
Str.10696 34
zebrafish
(Danio rerio)
Actinopterygii rnmtl1a 34 35
  • 58.99 (n)
rnmtl1b 35
  • 39 (a)
OneToMany
Dr.14923 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003655 34
  • 48.76 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG14100 34 35
  • 46 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 21 (a)
OneToOne
Species where no ortholog for MRM3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MRM3 Gene

ENSEMBL:
Gene Tree for MRM3 (if available)
TreeFam:
Gene Tree for MRM3 (if available)

Paralogs for MRM3 Gene

Pseudogenes.org Pseudogenes for MRM3 Gene

genes like me logo Genes that share paralogs with MRM3: view

No data available for Paralogs for MRM3 Gene

Variants for MRM3 Gene

Sequence variations from dbSNP and Humsavar for MRM3 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000189619 -- 789,463(+) GCTTG(G/T)CTCTA intron-variant
rs1000192306 -- 786,700(+) CACTG(C/T)GCCCA intron-variant
rs1000224066 -- 787,468(+) GAACA(G/T)TTGAG intron-variant
rs1000291531 -- 792,436(+) CAGCT(A/G)TAGGT utr-variant-3-prime
rs1000387183 -- 782,045(+) GGGCC(G/T)AAGGT intron-variant, upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for MRM3 Gene

Variant ID Type Subtype PubMed ID
dgv3071n100 CNV gain 25217958
dgv3072n100 CNV gain 25217958
dgv3074n100 CNV gain 25217958
dgv3075n100 CNV loss 25217958
dgv5386n54 CNV gain 21841781
dgv5387n54 CNV loss 21841781
dgv5389n54 CNV gain 21841781
esv1058975 CNV deletion 17803354
esv2422420 CNV duplication 17116639
esv2715358 CNV deletion 23290073
esv2715359 CNV deletion 23290073
esv2715360 CNV deletion 23290073
esv2715361 CNV deletion 23290073
esv2758673 CNV gain 17122850
esv35056 CNV gain 17911159
esv3639625 CNV gain 21293372
esv3639641 CNV gain 21293372
esv3892944 CNV gain 25118596
esv5398 CNV loss 18987735
nsv1057000 CNV gain 25217958
nsv1058033 CNV loss 25217958
nsv1060084 CNV gain 25217958
nsv1062294 CNV loss 25217958
nsv1063272 CNV gain 25217958
nsv1064955 CNV gain 25217958
nsv1071323 CNV deletion 25765185
nsv457631 CNV gain 19166990
nsv469891 CNV loss 16826518

Variation tolerance for MRM3 Gene

Residual Variation Intolerance Score: 28.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.06; 87.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MRM3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRM3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MRM3 Gene

Disorders for MRM3 Gene

Relevant External Links for MRM3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MRM3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MRM3

No disorders were found for MRM3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MRM3 Gene

Publications for MRM3 Gene

  1. The ATF/CREB site is the key element for transcription of the human RNA methyltransferase like 1(RNMTL1) gene, a newly discovered 17p13.3 gene. (PMID: 12296377) Xu J. … Gu J.R. (Cell Res. 2002) 2 3 4 22 64
  2. MRM2 and MRM3 are involved in biogenesis of the large subunit of the mitochondrial ribosome. (PMID: 25009282) Rorbach J. … Minczuk M. (Mol. Biol. Cell 2014) 2 3 4 64
  3. 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
  4. 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) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for MRM3 Gene

Sources for MRM3 Gene

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