TRMT5 - tRNA methyltransferase 5 Gene

Also Known as TRM5; PNSED; COXPD26; KIAA1393

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57570

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 References Source
involved in mitochondrial tRNA methylation IMP
IMP: Inferred from mutant phenotype
26189817 GOA
Cellular Component GO Annotation Evidence References 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

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 Set / 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
Others TRMT5 NCBI