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

    Gene ID: 79922, updated on 27-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:26202
    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
    Summary
    Enables rRNA (guanosine-2'-O-)-methyltransferase activity. Predicted to be involved in rRNA modification. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in spleen (RPKM 1.2), lymph node (RPKM 1.0) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See MRM1 in Genome Data Viewer
    Location:
    17q12
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (36601583..36634698)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (37587927..37621061)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (34958012..34965400)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene gametogenetin binding protein 2 Neighboring gene uncharacterized LOC107985031 Neighboring gene ribosomal protein S2 pseudogene 50 Neighboring gene dehydrogenase/reductase 11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:34983260-34983760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:34998295-34999169 Neighboring gene MPRA-validated peak2825 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:35010359-35010858 Neighboring gene VISTA enhancer hs362 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:35013913-35014450 Neighboring gene uncharacterized LOC105371750 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:35018784-35018989 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:35021739-35022238 Neighboring gene uncharacterized LOC105371751 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:35109266-35109439 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:35148027-35148528 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:35169882-35170594 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:35170595-35171307 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:35174429-35174934 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:35173923-35174428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:35183956-35184456 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:35184457-35184957 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:35194089-35194756 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:35207061-35208260 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:35215835-35216366 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:35219226-35220198 Neighboring gene Sharpr-MPRA regulatory region 13221 Neighboring gene LHX1 divergent transcript Neighboring gene Sharpr-MPRA regulatory region 9746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:35275423-35275942 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:35275943-35276460 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:35278241-35279440 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:35289047-35289564 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:35289565-35290082 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:35290165-35291080 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:35292909-35293822

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. A late-stage assembly checkpoint of the human mitochondrial ribosome large subunit. Rebelo-Guiomar P, et al. Nat Commun, 2022 Feb 17. PMID 35177605, Free PMC Article
    2. Assignment of 2'-O-methyltransferases to modification sites on the mammalian mitochondrial large subunit 16 S ribosomal RNA (rRNA). Lee KW, et al. J Biol Chem, 2014 Sep 5. PMID 25074936, Free PMC Article
    3. Mitochondrial ribosomal RNA (rRNA) methyltransferase family members are positioned to modify nascent rRNA in foci near the mitochondrial DNA nucleoid. Lee KW, et al. J Biol Chem, 2013 Oct 25. PMID 24036117, Free PMC Article
    4. APEX Fingerprinting Reveals the Subcellular Localization of Proteins of Interest. Lee SY, et al. Cell Rep, 2016 May 24. PMID 27184847
    5. A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome. Richter R, et al. EMBO J, 2010 Mar 17. PMID 20186120, Free PMC Article

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Data show that 2'-O-methyltransferases MRM1, MRM2, and RNMTL1 are responsible for modification of large subunit rRNA at residues G1145, U1369, and G1370, respectively.
      Title: Assignment of 2'-O-methyltransferases to modification sites on the mammalian mitochondrial large subunit 16 S ribosomal RNA (rRNA).
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22578

    Gene Ontology Provided by GOA

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

    General protein information

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    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)

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    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_024864.5 → NP_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
      A8K8E2, Q6IN84, Q96GK2, Q9H664
      Related
      ENSP00000481559.1, ENST00000614766.5
      Conserved Domains (1) summary
      COG0566
      Location:40 → 308
      SpoU; tRNA G18 (ribose-2'-O)-methylase SpoU [Translation, ribosomal structure and biogenesis]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011525275.3 → XP_011523577.1  rRNA methyltransferase 1, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011523577.1

      Conserved Domains (3) summary
      COG0566
      Location:40 → 296
      SpoU; tRNA G18 (ribose-2'-O)-methylase SpoU [Translation, ribosomal structure and biogenesis]
      pfam00588
      Location:148 → 296
      SpoU_methylase; SpoU rRNA Methylase family
      pfam08032
      Location:51 → 127
      SpoU_sub_bind; RNA 2'-O ribose methyltransferase substrate binding

    2. XM_011525276.4 → XP_011523578.1  rRNA methyltransferase 1, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011523578.1

      Conserved Domains (3) summary
      COG0566
      Location:40 → 296
      SpoU; tRNA G18 (ribose-2'-O)-methylase SpoU [Translation, ribosomal structure and biogenesis]
      pfam00588
      Location:148 → 296
      SpoU_methylase; SpoU rRNA Methylase family
      pfam08032
      Location:51 → 127
      SpoU_sub_bind; RNA 2'-O ribose methyltransferase substrate binding

    3. XM_005257694.6 → XP_005257751.1  rRNA methyltransferase 1, mitochondrial isoform X2

      See identical proteins and their annotated locations for XP_005257751.1

      Conserved Domains (2) summary
      pfam08032
      Location:51 → 127
      SpoU_sub_bind; RNA 2'-O ribose methyltransferase substrate binding
      cl21505
      Location:148 → 212
      SpoU_methylase; SpoU rRNA Methylase family

    RNA

    1. XR_934554.2 RNA Sequence

    2. XR_007065467.1 RNA Sequence

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187614.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      837077..870221
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329341.1 → XP_054185316.1  rRNA methyltransferase 1, mitochondrial isoform X1

    2. XM_054329342.1 → XP_054185317.1  rRNA methyltransferase 1, mitochondrial isoform X1

    3. XM_054329343.1 → XP_054185318.1  rRNA methyltransferase 1, mitochondrial isoform X2

    RNA

    1. XR_008485635.1 RNA Sequence

    2. XR_008485636.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      37587927..37621061
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317292.1 → XP_054173267.1  rRNA methyltransferase 1, mitochondrial isoform X1

    2. XM_054317293.1 → XP_054173268.1  rRNA methyltransferase 1, mitochondrial isoform X1

    3. XM_054317294.1 → XP_054173269.1  rRNA methyltransferase 1, mitochondrial isoform X2

    RNA

    1. XR_008484941.1 RNA Sequence

    2. XR_008484942.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6IN84.1 GenPept UniProtKB/Swiss-Prot:Q6IN84

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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