• Gene id: 55178

Gene Summary

• Gene Symbol: MRM3   Gene   UCSC   Ensembl
• Aliases: RMTL1, RNMTL1
• Gene name: mitochondrial rRNA methyltransferase 3
• Alternate names: rRNA methyltransferase 3, mitochondrial, 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,
• Gene location: 17p13.3 (782352: 792508)     Exons: 4     NC_000017.11
• Gene summary(Entrez): 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 rRN
• OMIM: 604647

Protein Summary

• Protein general information: Q9HC36  
  • Name: rRNA methyltransferase 3, mitochondrial (EC 2.1.1. ) (16S rRNA (guanosine(1370) 2' O) methyltransferase) (16S rRNA [Gm1370] 2' O methyltransferase) (RNA methyltransferase like protein 1)
  • Length: 420  
  • Mass: 47020
  • Tissue specificity: Expressed at same level in normal liver and hepatocarcinoma. {ECO
• Sequence:

  MAALVRPARFVVRPLLQVVQAWDLDARRWVRALRRSPVKVVFPSGEVVEQKRAPGKQPRKAPSEASAQEQREKQP
  LEESASRAPSTWEESGLRYDKAYPGDRRLSSVMTIVKSRPFREKQGKILLEGRRLISDALKAGAVPKMFFFSRLE
  YLKELPVDKLKGVSLIKVKFEDIKDWSDLVTPQGIMGIFAKPDHVKMTYPKTQLQHSLPLLLICDNLRDPGNLGT
  ILRSAAGAGCSKVLLTKGCVDAWEPKVLRAGMGAHFRMPIINNLEWETVPNYLPPDTRVYVADNCGLYAQAEMSN
  KASDHGWVCDQRVMKFHKYEEEEDVETGASQDWLPHVEVQSYDSDWTEAPAAVVIGGETYGVSLESLQLAESTGG
  KRLLIPVVPGVDSLNSAMAASILLFEGKRQLRGRAEDLSRDRSYH

• Structural information:
  • Interpro: IPR029028  IPR029064  IPR001537  IPR013123  
  • STRING: ENSP00000306080
• Other Databases: GeneCards:  MRM3  Malacards:  MRM3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006396	RNA processing	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0008173	RNA methyltransferase activity	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0006364	rRNA processing	IEA	biological process
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0070039	rRNA (guanosine-2'-O-)-methyltransferase activity	EXP	molecular function
GO:0070039	rRNA (guanosine-2'-O-)-methyltransferase activity	EXP	molecular function
GO:0000451	rRNA 2'-O-methylation	TAS	biological process
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R