TRMT5 - tRNA methyltransferase 5 Gene

Homo sapiens

Also known as TRM5; PNSED; COXPD26; KIAA1393

Gene ID: 57570 | Gene type: protein coding

About TRMT5

Cytogenetic location: 14q23.1 Genomic coordinates (GRCh38): 14:60,971,441-60,981,690 (from NCBI)

This gene has 3 transcripts (splice variants), 207 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 5.1), ovary (RPKM 4.1) and 25 other tissues.

Summary

tRNAs contain as many as 13 or 14 nucleotides that are modified posttranscriptionally by Enzymes that are highly specific for particular nucleotides in the tRNA structure. TRMT5 methylates the N1 position of guanosine-37 (G37) in selected tRNAs using S-adenosyl methionine (Brule et al., 2004 [PubMed 15248782]).[supplied by OMIM, Mar 2008]

TRMT5 Products(3)

mRNA	Protein	Name
NM_001350253.1	NP_001337182.1	tRNA (guanine(37)-N1)-methyltransferase isoform 1
NM_001350254.1	NP_001337183.1	tRNA (guanine(37)-N1)-methyltransferase isoform 2
NM_020810.3	NP_065861.3	tRNA (guanine(37)-N1)-methyltransferase isoform 3

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	Reference	Source
involved in mitochondrial tRNA methylation	IMP IMP: Inferred from mutant phenotype	26189817	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in mitochondrial matrix	IDA IDA: Inferred from direct assay	26189817	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

tRNA (guanine(37)-N1)-methyltransferase

M1G-methyltransferase

Related Diseases

Diseases

Alias

Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay

Combined Oxidative Phosphorylation Deficiency 26	COXPD26
Combined Oxidative Phosphorylation Defect Type 26	PNSED
Oxidative Phosphorylation Deficiency, Combined, Type 26

Joubert Syndrome 23

JBTS23

Joubert Syndrome, Type 23

3-Methylcrotonyl-Coa Carboxylase 1 Deficiency

MCC1D	Mccd Type 1
Mcc1 Deficiency	Methylcrotonylglycinuria Type I
3-Methylcrotonylglycinuria I	3-Methylcrotonoyl-Coa Carboxylase 1 Deficiency
3-Methylcrotonylglycinuria Type I	Mcgi
3 Methylcrotonyl-Coa Carboxylase 1 Deficiency	3-Methylcrotonyl Coa Carboxylase 1 Deficiency

Combined Oxidative Phosphorylation Deficiency 10

COXPD10	Mitochondrial Hypertrophic Cardiomyopathy With Lactic Acidosis Due To Mto1 Deficiency
Cardiomyopathy, Infantile Hypertrophic Mitochondrial, And Lactic Acidosis	Infantile Hypertrophic Mitochondrial Cardiomyopathy And Lactic Acidosis
Combined Oxidative Phosphorylation Defect Type 10	Cardiomyopathy Infantile Hypertrophic Mitochondrial And Lactic Acidosis
Combined Oxidative Phosphorylation Deficiency, Type 10

Combined Oxidative Phosphorylation Deficiency

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Cardiomyopathy, Infantile Hypertrophic

Infantile Hypertrophic Cardiomyopathy

CMHI

Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy

Peripheral Neuropathy And Optic Atrophy	Cmt6
Charcot-Marie-Tooth Disease Type 6	Hmsn Vi
HMSN6A	Hmsn Via
Hmsn6	Cmt6a
Charcot-Marie-Tooth Disease, Type 6	Hereditary Motor And Sensory Neuropathy Type 6
Hereditary Motor And Sensory Neuropathy Type Vi	Neuropathy, Hereditary Motor And Sensory, Type 6a
Neuropathy, Hereditary Motor And Sensory, Type Vi	Charcot-Marie-Tooth Disease, Type 6a
Hereditary Motor And Sensory Neuropathy Via	Hmsn 6
Neuropathy, Hereditary Motor And Sensory, 6a, With Optic Atrophy	Charcot-Marie-Tooth Disease 6
Charcot-Marie-Tooth Disease 6a	Hereditary Motor And Sensory Neuropathy Type Via
Hereditary Motor And Sensory Neuropathy Vi

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy	Cardiomyopathy, Hypertrophic
Cardiomyopathy Hypertrophic Obstructive	Cardiomyopathy, Hypertrophic, Familial
Idiopathic Myocardial Hypertrophy	Idiopathic Hypertrophic Cardiomyopathy
Obstructive Idiopathic Hypertrophic Cardiomyopathy	Obstructive Cardiomyopathy
Idiopathic Hypertrophic Subaortic Stenosis	Muscular Subaortic Stenosis
Hypertrophic Obstructive Subaortic Stenosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15093	TRMT5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	TRMT5	VGNC	VGNC:66573
Bos taurus	TRMT5	VGNC	VGNC:36373
Mus musculus	TRMT5	MGD	MGI:1923607
Canis familiaris	TRMT5	VGNC	VGNC:47859
Macaca mulatta	TRMT5	VGNC	VGNC:99335
Rattus norvegicus	TRMT5	RGD	RGD:1306567

Name
Email *

	Sorry, but the email address you supplied was invalid.