Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	79922
Gene name	Mitochondrial rRNA methyltransferase 1
Gene symbol	MRM1
Synonyms (NCBI Gene)	-
Chromosome	17
Chromosome location	17q12

26 Show/Hide all (26)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001616	hsa-let-7b-5p	pSILAC	18668040
MIRT030068	hsa-miR-26b-5p	Microarray	19088304
MIRT001616	hsa-let-7b-5p	Proteomics;Other	18668040
MIRT1158146	hsa-miR-1184	CLIP-seq
MIRT1158147	hsa-miR-1205	CLIP-seq
MIRT1158148	hsa-miR-3127-3p	CLIP-seq
MIRT1158149	hsa-miR-3158-5p	CLIP-seq
MIRT1158150	hsa-miR-3183	CLIP-seq
MIRT1158151	hsa-miR-4299	CLIP-seq
MIRT1158152	hsa-miR-4456	CLIP-seq
MIRT1158153	hsa-miR-4723-3p	CLIP-seq
MIRT1158154	hsa-miR-548q	CLIP-seq
MIRT2045289	hsa-miR-296-5p	CLIP-seq
MIRT2045290	hsa-miR-3127-5p	CLIP-seq
MIRT2045291	hsa-miR-3145-5p	CLIP-seq
MIRT2045292	hsa-miR-3618	CLIP-seq
MIRT2045293	hsa-miR-3918	CLIP-seq
MIRT2045294	hsa-miR-4290	CLIP-seq
MIRT2045295	hsa-miR-508-5p	CLIP-seq
MIRT2045296	hsa-miR-934	CLIP-seq
MIRT1158146	hsa-miR-1184	CLIP-seq
MIRT1158147	hsa-miR-1205	CLIP-seq
MIRT1158149	hsa-miR-3158-5p	CLIP-seq
MIRT1158150	hsa-miR-3183	CLIP-seq
MIRT1158153	hsa-miR-4723-3p	CLIP-seq
MIRT2391039	hsa-miR-4763-5p	CLIP-seq

25 Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000154	Process	RRNA modification	IBA
GO:0000451	Process	RRNA 2'-O-methylation	TAS
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 28514442, 32296183, 32814053, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IDA	27184847
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	IMP	35177605
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006364	Process	RRNA processing	IEA
GO:0006364	Process	RRNA processing	IMP	35177605
GO:0006396	Process	RNA processing	IEA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008173	Function	RNA methyltransferase activity	IEA
GO:0016435	Function	RRNA (guanine) methyltransferase activity	IBA
GO:0016740	Function	Transferase activity	IEA
GO:0031167	Process	RRNA methylation	IEA
GO:0032259	Process	Methylation	IEA
GO:0070039	Function	RRNA (guanosine-2'-O-)-methyltransferase activity	EXP	25074936
GO:0070039	Function	RRNA (guanosine-2'-O-)-methyltransferase activity	IMP	35177605

MIM	HGNC	e!Ensembl
618099	26202	ENSG00000278619

Q6IN84

Protein name

rRNA methyltransferase 1, mitochondrial (EC 2.1.1.-) (16S rRNA (guanosine(1145)-2'-O)-methyltransferase) (16S rRNA [Gm1145] 2'-O-methyltransferase)

Protein function

S-adenosyl-L-methionine-dependent 2'-O-ribose methyltransferase that catalyzes the formation of 2'-O-methylguanosine at position 1145 (Gm1145) in the 16S mitochondrial large subunit ribosomal RNA (mtLSU rRNA), a universally conserved modificatio

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00588	SpoU_methylase	145 → 301	SpoU rRNA Methylase family	Family
PF08032	SpoU_sub_bind	51 → 129		Domain

Sequence

MALLSTVRGATWGRLVTRHFSHAARHGERPGGEELSRLLLDDLVPTSRLELLFGMTPCLL
ALQAARRSVARLLLQAGKAGLQGKRAELLRMAEARDIPVLRPRRQKLDTMCRYQVHQGVC
MEVSPLRPRPWREAGEASPGDDPQQLWLVLDGIQDPRNFGAVLRSAHFLGVDKVITSRRN
SCPLTPVVSKSSAGAMEVMDVFSTDDLTGFLQTKAQQGWLVAGTVGCPSTEDPQSSEIPI
MSCLEFLWERPTLLVLGNEGSGLSQEVQASCQLLLTILPRRQLPPGLESLNVSVAAGILL
HSICSQRKGFPTEGERRQLLQDPQEPSARSEGLSMAQHPGLSSGPEKERQNEG

Sequence length

353

Interactions

View interactions

Reactome Pathway
rRNA modification in the mitochondrion

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (6)
ALZHEIMER DISEASE	—	GWAS catalog	30636644	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	39046104	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	39349817	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSTRUCTIVE SLEEP APNEA	—	GWAS catalog	26977737	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	GWAS catalog	22419666	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	39349817	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

MRM1 (mitochondrial rRNA methyltransferase 1)

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