TRMT1 - tRNA methyltransferase 1 Gene

Also Known as TRM1; MRT68

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55621

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 References 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

TRM: N2,N2-dimethylguanosine tRNA methyltransferase (58 - 500)

zf-CCCH

zf-CCCH: Zinc finger C-x8-C-x5-C-x3-H type (and similar) (602 - 626)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
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

Pre-clinical Phase

Bioactive Molecules (5)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-153141 MP-1 Ligand / Unkown
HY-RS15086 TRMT1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS15097 TRMU Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS19490 Trmt1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25984 Trmt1 Rat Pre-designed siRNA Set A Pre-designed Set / 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