Seroatlas · Human Serome Atlas

TRMT1

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

Also known as: FLJ20244, TRM1, TRM1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9NXH9
Gene
TRMT1
Ensembl
ENSG00000104907
Chromosome
19
Canonical length
659 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Plasma membrane,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

659 residues, UniProt reviewed canonical sequence.

>Q9NXH9|TRMT1
     1  MQGSSLWLSL TFRSARVLSR ARFFEWQSPG LPNTAAMENG TGPYGEERPR EVQETTVTEG
    61  AAKIAFPSAN EVFYNPVQEF NRDLTCAVIT EFARIQLGAK GIQIKVPGEK DTQKVVVDLS
   121  EQEEEKVELK ESENLASGDQ PRTAAVGEIC EEGLHVLEGL AASGLRSIRF ALEVPGLRSV
   181  VANDASTRAV DLIRRNVQLN DVAHLVQPSQ ADARMLMYQH QRVSERFDVI DLDPYGSPAT
   241  FLDAAVQAVS EGGLLCVTCT DMAVLAGNSG ETCYSKYGAM ALKSRACHEM ALRIVLHSLD
   301  LRANCYQRFV VPLLSISADF YVRVFVRVFT GQAKVKASAS KQALVFQCVG CGAFHLQRLG
   361  KASGVPSGRA KFSAACGPPV TPECEHCGQR HQLGGPMWAE PIHDLDFVGR VLEAVSANPG
   421  RFHTSERIRG VLSVITEELP DVPLYYTLDQ LSSTIHCNTP SLLQLRSALL HADFRVSLSH
   481  ACKNAVKTDA PASALWDIMR CWEKECPVKR ERLSETSPAF RILSVEPRLQ ANFTIREDAN
   541  PSSRQRGLKR FQANPEANWG PRPRARPGGK AADEAMEERR RLLQNKRKEP PEDVAQRAAR
   601  LKTFPCKRFK EGTCQRGDQC CYSHSPPTPR VSADAAPDCP ETSNQTPPGP GAAAGPGID

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TRMT1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.34
Highest tissue expression
30 nTPM

Expression across tissuesHPA

Tissue

  • spleen: 30 nTPM
  • ovary: 28 nTPM
  • skeletal muscle: 28 nTPM
  • pancreas: 25 nTPM
  • endometrium: 23 nTPM
  • cervix: 23 nTPM

Single-cell type

  • megakaryocytes: 173 nCPM
  • platelets: 75 nCPM
  • microglia: 71 nCPM
  • hofbauer cells: 67 nCPM
  • late spermatids: 64 nCPM
  • monocytes: 61 nCPM

Immune cell

  • classical monocyte: 19 nTPM
  • myeloid DC: 18 nTPM
  • intermediate monocyte: 15 nTPM
  • naive B-cell: 13 nTPM
  • memory B-cell: 12 nTPM
  • naive CD4 T-cell: 11 nTPM

Brain region

  • white matter: 21 nTPM
  • pons: 20 nTPM
  • cerebral cortex: 20 nTPM
  • thalamus: 20 nTPM
  • basal ganglia: 20 nTPM
  • medulla oblongata: 19 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TRMT1.

Disease | AllUniProt

Conditions TRMT1 is implicated in, by any mechanism.

  • Intellectual developmental disorder, autosomal recessive 68 (MRT68) MIM:618302

Disease | GeneticClinVar

29 pathogenic / likely-pathogenic of 244 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.95
gnomAD pLI
0
gnomAD missense Z
0.56
DepMap mean gene effect
-0.12
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TRMT1 as an antibody target. Whether an autoantibody or antibody against TRMT1 could matter depends on whether native TRMT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TRMT1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label TRMT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/TRMT1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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