TRMT1 - tRNA methyltransferase 1 Gene

Homo sapiens

Also known as TRM1; MRT68

Gene ID: 55621 | Gene type: protein coding

About TRMT1

Cytogenetic location: 19p13.13 Genomic coordinates (GRCh38): 19:13,104,907-13,116,740 (from NCBI)

This gene has 23 transcripts (splice variants), 194 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in spleen (RPKM 12.4), lymph node (RPKM 11.5) and 25 other tissues.

Summary

This gene encodes a tRNA-modifying Enzyme that acts as a dimethyltransferase, modifying a single guanine residue at position 26 of the tRNA. The encoded Enzyme has both mono- and dimethylase activity when exogenously expressed, and uses S-adenosyl methionine as a methyl donor. The C-terminal region of the encoded protein has both a zinc finger motif, and an arginine/proline-rich region. Mutations in this gene have been implicated in autosomal recessive intellectual disorder (ARID). Alternative splicing results in multiple transcript variants encoding different isoforms. There is a pseudogene of this gene on the X chromosome. [provided by RefSeq, May 2017]

TRMT1 Products(6)

mRNA	Protein	Name
NM_001136035.4	NP_001129507.1	tRNA (guanine(26)-N(2))-dimethyltransferase isoform 1
NM_001142554.3	NP_001136026.1	tRNA (guanine(26)-N(2))-dimethyltransferase isoform 2
NM_001351760.2	NP_001338689.1	tRNA (guanine(26)-N(2))-dimethyltransferase isoform 2
NM_001351761.2	NP_001338690.1	tRNA (guanine(26)-N(2))-dimethyltransferase isoform 3
NM_001351762.2	NP_001338691.1	tRNA (guanine(26)-N(2))-dimethyltransferase isoform 4
NM_017722.5	NP_060192.1	tRNA (guanine(26)-N(2))-dimethyltransferase isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables tRNA (guanine(26)-N2)-dimethyltransferase activity	EXP EXP: Inferred from Experiment	10982862	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

TRMT1 Protein Structure

TRM

zf-CCCH

0
200
400
600
659 a.a.

Protein Preferred Names

Protein Names

tRNA (guanine(26)-N(2))-dimethyltransferase

N(2),N(2)-dimethylguanosine tRNA methyltransferase

TRMT1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	TRMT1	Q9NXH9	MAGEA11	Homo sapiens	P43364-2	Y2H Array	25416956
Intra	TRMT1	Q9NXH9	MAGEA11	Homo sapiens	P43364-2	Y2H Prey Pooling	25416956
Intra	TRMT1	Q9NXH9	TERF1	Homo sapiens	P54274	Pull Down	21044950
Intra	TRMT1	Q9NXH9	MAGEA11	Homo sapiens	P43364	Y2H Array	32296183
Intra	TRMT1	Q9NXH9	MAGEA11	Homo sapiens	P43364	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder, Autosomal Recessive 68

MRT68	Mental Retardation, Autosomal Recessive 68
Autosomal Recessive Intellectual Developmental Disorder 68

Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder

Developmental And Epileptic Encephalopathy 24

DEE24	Epileptic Encephalopathy, Early Infantile, 24
Eiee24	Developmental And Epileptic Encephalopathy, 24
Early Infantile Epileptic Encephalopathy 24	Encephalopathy, Epileptic, Early Infantile, Type 24

Urethral Calculus

Calculus In Urethra	Urethral Stone
Urethrolithiasis	Urethra Calculi Impaction
Urethra Calculus Impaction	Urethra Stone
Calculous Urethritis	Urethral Calculi Impaction
Urethral Calculus Impaction

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy	Benign Rolandic Epilepsy
Epilepsy, Rolandic	Bcects
Benign Childhood Epilepsy With Centrotemporal Spike	Sylvan Seizures
Becrs	Bects
Bre	Benign Epilepsy Of Childhood With Centrotemporal Spikes
Benign Familial Epilepsy Of Childhood With Rolandic Spikes	Centrotemporal Epilepsy

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-RS15086	TRMT1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	TRMT1	VGNC	VGNC:47850
Felis catus	TRMT1	VGNC	VGNC:66565
Bos taurus	TRMT1	VGNC	VGNC:36365
Mus musculus	TRMT1	MGD	MGI:1289155
Rattus norvegicus	TRMT1	RGD	RGD:1305992
Macaca mulatta	TRMT1	VGNC	VGNC:79562
Others	TRMT1	NCBI

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