1. Gene
  2. TRMT5 - tRNA methyltransferase 5 Gene

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
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

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