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    MRM1 mitochondrial rRNA methyltransferase 1 [ Homo sapiens (human) ]

    Gene ID: 79922, updated on 17-Jun-2019

    Summary

    Official Symbol
    MRM1provided by HGNC
    Official Full Name
    mitochondrial rRNA methyltransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:26202
    See related
    Ensembl:ENSG00000278619 MIM:618099
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Expression
    Ubiquitous expression in spleen (RPKM 1.2), lymph node (RPKM 1.0) and 25 other tissues See more
    Orthologs

    Genomic context

    See MRM1 in Genome Data Viewer
    Location:
    17q12
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (36601583..36634698)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (34958010..34965407)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene gametogenetin binding protein 2 Neighboring gene ribosomal protein S2 pseudogene 50 Neighboring gene uncharacterized LOC107985031 Neighboring gene dehydrogenase/reductase 11 Neighboring gene VISTA enhancer hs362 Neighboring gene uncharacterized LOC105371750 Neighboring gene uncharacterized LOC105371751

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • rRNA modification in the mitochondrion, organism-specific biosystem (from REACTOME)
      rRNA modification in the mitochondrion, organism-specific biosystemFive modified nucleotides have been detected in the 12S rRNA: 5-methylcytidine-841 catalyzed by NSUN4, 6-dimethyladenosine-936 catalyzed by TFB1M, 6-dimethyladenosine-937 catalyzed by TFB1M, 5-methy...
    • rRNA processing, organism-specific biosystem (from REACTOME)
      rRNA processing, organism-specific biosystemEach eukaryotic cytosolic ribosome contains 4 molecules of RNA: 28S rRNA (25S rRNA in yeast), 5.8S rRNA, and 5S rRNA in the 60S subunit and 18S rRNA in the 40S subunit. The 18S rRNA, 5.8S rRNA, and 2...
    • rRNA processing in the mitochondrion, organism-specific biosystem (from REACTOME)
      rRNA processing in the mitochondrion, organism-specific biosystemMitochondrial ribosomes contain 16S rRNA (large subunit) and 12S rRNA (small subunit) that are encoded in the mitochondrial genome and produced by processing of a long H strand transcript (reviewed i...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ22578

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding HDA PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    rRNA (guanosine-2'-O-)-methyltransferase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    Process Evidence Code Pubs
    rRNA 2'-O-methylation TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    rRNA methyltransferase 1, mitochondrial
    Names
    16S rRNA (guanosine(1145)-2'-O)-methyltransferase
    16S rRNA [Gm1145] 2'-O-methyltransferase
    CTB-75G16.3
    mitochondrial large ribosomal RNA ribose methylase
    mitochondrial rRNA methyltransferase 1 homolog

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_024864.5NP_079140.2  rRNA methyltransferase 1, mitochondrial precursor

      See identical proteins and their annotated locations for NP_079140.2

      Status: VALIDATED

      Source sequence(s)
      AC243732, BC009416, CB137408
      Consensus CDS
      CCDS32631.1
      UniProtKB/Swiss-Prot
      Q6IN84
      Related
      ENSP00000481559.1, ENST00000614766.5
      Conserved Domains (1) summary
      COG0566
      Location:40308
      SpoU; tRNA G18 (ribose-2'-O)-methylase SpoU [Translation, ribosomal structure and biogenesis]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      36601583..36634698
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525275.3XP_011523577.1  rRNA methyltransferase 1, mitochondrial isoform X2

      See identical proteins and their annotated locations for XP_011523577.1

      Conserved Domains (3) summary
      COG0566
      Location:40296
      SpoU; tRNA G18 (ribose-2'-O)-methylase SpoU [Translation, ribosomal structure and biogenesis]
      pfam00588
      Location:148296
      SpoU_methylase; SpoU rRNA Methylase family
      pfam08032
      Location:51127
      SpoU_sub_bind; RNA 2'-O ribose methyltransferase substrate binding
    2. XM_011525276.3XP_011523578.1  rRNA methyltransferase 1, mitochondrial isoform X2

      See identical proteins and their annotated locations for XP_011523578.1

      Conserved Domains (3) summary
      COG0566
      Location:40296
      SpoU; tRNA G18 (ribose-2'-O)-methylase SpoU [Translation, ribosomal structure and biogenesis]
      pfam00588
      Location:148296
      SpoU_methylase; SpoU rRNA Methylase family
      pfam08032
      Location:51127
      SpoU_sub_bind; RNA 2'-O ribose methyltransferase substrate binding
    3. XM_017025112.2XP_016880601.1  rRNA methyltransferase 1, mitochondrial isoform X1

    4. XM_005257694.5XP_005257751.1  rRNA methyltransferase 1, mitochondrial isoform X3

      See identical proteins and their annotated locations for XP_005257751.1

      Conserved Domains (2) summary
      pfam08032
      Location:51127
      SpoU_sub_bind; RNA 2'-O ribose methyltransferase substrate binding
      cl21505
      Location:148212
      SpoU_methylase; SpoU rRNA Methylase family

    RNA

    1. XR_934554.2 RNA Sequence

    Reference GRCh38.p13 ALT_REF_LOCI_1

    Genomic

    1. NT_187614.1 Reference GRCh38.p13 ALT_REF_LOCI_1

      Range
      837077..844465
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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