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MRM3 mitochondrial rRNA methyltransferase 3 [ Homo sapiens (human) ]

Gene ID: 55178, updated on 21-Dec-2019

Summary

Official Symbol
MRM3provided by HGNC
Official Full Name
mitochondrial rRNA methyltransferase 3provided by HGNC
Primary source
HGNC:HGNC:18485
See related
Ensembl:ENSG00000171861 MIM:612600
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RMTL1; RNMTL1
Summary
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]
Expression
Ubiquitous expression in testis (RPKM 12.8), bone marrow (RPKM 6.8) and 25 other tissues See more
Orthologs

Genomic context

See MRM3 in Genome Data Viewer
Location:
17p13.3
Exon count:
4
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (782353..792509)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (685513..695741)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene TLC domain containing 3A Neighboring gene gem nuclear organelle associated protein 4 Neighboring gene diazepam binding inhibitor-like 5, pseudogene Neighboring gene glyoxalase domain containing 4 Neighboring gene nucleoredoxin Neighboring gene uncharacterized LOC101927727 Neighboring gene translocase of inner mitochondrial membrane 22 Neighboring gene ABR activator of RhoGEF and GTPase

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 Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10581

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 IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
rRNA methyltransferase 3, mitochondrial
Names
16S rRNA (guanosine(1370)-2'-O)-methyltransferase
16S rRNA [Gm1370] 2'-O-methyltransferase
RNA methyltransferase like 1
RNA methyltransferase-like protein 1
putative RNA methyltransferase
NP_001304876.1
NP_060616.1

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_001317947.2NP_001304876.1  rRNA methyltransferase 3, mitochondrial isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate internal exon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AF177344, AK222900, BI830018
    UniProtKB/Swiss-Prot
    Q9HC36
    Conserved Domains (1) summary
    pfam00588
    Location:13204
    SpoU_methylase; SpoU rRNA Methylase family
  2. NM_018146.4NP_060616.1  rRNA methyltransferase 3, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_060616.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AF177344, AK222900
    Consensus CDS
    CCDS10997.1
    UniProtKB/Swiss-Prot
    Q9HC36
    Related
    ENSP00000306080.4, ENST00000304478.9
    Conserved Domains (3) summary
    smart00967
    Location:125191
    SpoU_sub_bind; RNA 2'-O ribose methyltransferase substrate binding
    COG0566
    Location:117407
    SpoU; tRNA G18 (ribose-2'-O)-methylase SpoU [Translation, ribosomal structure and biogenesis]
    pfam00588
    Location:209400
    SpoU_methylase; SpoU rRNA Methylase family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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
    782353..792509
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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