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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

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