Aliases for TRMT112 Gene

Aliases for TRMT112 Gene

  • TRNA Methyltransferase Subunit 11-2 2 3 5
  • Multifunctional Methyltransferase Subunit TRM112-Like Protein 3 4
  • TRNA Methyltransferase 112 Homolog 3 4
  • TRMT11-2 2 3
  • HSPC152 2 3
  • HSPC170 2 3
  • HTrm112 2 3
  • TRM112 2 3
  • TRNA Methyltransferase 11-2 Homolog (S. Cerevisiae) 2
  • TRNA Methyltransferase 11-2 Homolog 3
  • TRM112-Like Protein 3
  • TRMT112 5

External Ids for TRMT112 Gene

Previous GeneCards Identifiers for TRMT112 Gene

  • GC11M063841
  • GC11M064084
  • GC11M060411

Summaries for TRMT112 Gene

GeneCards Summary for TRMT112 Gene

TRMT112 (TRNA Methyltransferase Subunit 11-2) is a Protein Coding gene. Diseases associated with TRMT112 include Cardiomyopathy, Familial Restrictive, 1 and Thiamine-Responsive Megaloblastic Anemia Syndrome. Among its related pathways are Cytochrome P450 - arranged by substrate type and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include protein methyltransferase activity.

UniProtKB/Swiss-Prot Summary for TRMT112 Gene

  • Acts as an activator of both rRNA/tRNA and protein methyltransferases (PubMed:25851604, PubMed:18539146, PubMed:20308323, PubMed:25851604, PubMed:31328227, PubMed:31636962, PubMed:31061526). Together with methyltransferase BUD23, methylates the N(7) position of a guanine in 18S rRNA (PubMed:25851604). The heterodimer with HEMK2/N6AMT1 catalyzes N5-methylation of ETF1 on 'Gln-185', using S-adenosyl L-methionine as methyl donor (PubMed:18539146, PubMed:31636962, PubMed:31061526). The heterodimer with HEMK2/N6AMT1 also monomethylates 'Lys-12' of histone H4 (H4K12me1) (PubMed:31061526). The heterodimer with ALKBH8 catalyzes the methylation of 5-carboxymethyl uridine to 5-methylcarboxymethyl uridine at the wobble position of the anticodon loop in target tRNA species (PubMed:20308323). Involved in the pre-rRNA processing steps leading to small-subunit rRNA production (PubMed:25851604). Together with methyltransferase METTL5, specifically methylates the 6th position of adenine in position 1832 of 18S rRNA (PubMed:31328227).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TRMT112 Gene

Genomics for TRMT112 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TRMT112 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TRMT112 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TRMT112

Genomic Locations for TRMT112 Gene

Latest Assembly
chr11:64,316,460-64,318,596
(GRCh38/hg38)
Size:
2,137 bases
Orientation:
Minus strand

Previous Assembly
chr11:64,083,932-64,086,068
(GRCh37/hg19 by Entrez Gene)
Size:
2,137 bases
Orientation:
Minus strand

chr11:64,083,932-64,085,556
(GRCh37/hg19 by Ensembl)
Size:
1,625 bases
Orientation:
Minus strand

Genomic View for TRMT112 Gene

Genes around TRMT112 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRMT112 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRMT112 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRMT112 Gene

Proteins for TRMT112 Gene

  • Protein details for TRMT112 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UI30-TR112_HUMAN
    Recommended name:
    Multifunctional methyltransferase subunit TRM112-like protein
    Protein Accession:
    Q9UI30
    Secondary Accessions:
    • B2R539
    • J3KNG5
    • Q3MHC7
    • Q8N2Z4

    Protein attributes for TRMT112 Gene

    Size:
    125 amino acids
    Molecular mass:
    14199 Da
    Quaternary structure:
    • Heterodimer with BUD23; this heterodimerization is necessary for the metabolic stability and activity of the catalytic subunit BUD23 (PubMed:25851604). Heterodimer with N6AMT1/HEMK2; this heterodimerization is necessary for S-adenosyl-L-methionine-binding to N6AMT1/HEMK2 (PubMed:20308323, PubMed:25851604, PubMed:31632689, PubMed:31636962, PubMed:31061526). Heterodimer with ALKBH8 (PubMed:20308323). Heterodimer with METTL5; this heterodimerization is necessary for the stability of the catalytic subunit METTL5 (PubMed:31328227, PubMed:32217665).

    Three dimensional structures from OCA and Proteopedia for TRMT112 Gene

    Alternative splice isoforms for TRMT112 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TRMT112 Gene

Post-translational modifications for TRMT112 Gene

  • Ubiquitination at Lys2, Lys48, and Lys68
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Boster Bio Antibodies for TRMT112
  • Santa Cruz Biotechnology (SCBT) Antibodies for TRMT112

No data available for DME Specific Peptides for TRMT112 Gene

Domains & Families for TRMT112 Gene

Gene Families for TRMT112 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TRMT112 Gene

InterPro:
Blocks:
  • Protein of unknown function DUF343
ProtoNet:

Suggested Antigen Peptide Sequences for TRMT112 Gene

GenScript: Design optimal peptide antigens:
  • TRM112-like protein (TR112_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UI30

UniProtKB/Swiss-Prot:

TR112_HUMAN :
  • Belongs to the TRM112 family.
Family:
  • Belongs to the TRM112 family.
genes like me logo Genes that share domains with TRMT112: view

Function for TRMT112 Gene

Molecular function for TRMT112 Gene

UniProtKB/Swiss-Prot Function:
Acts as an activator of both rRNA/tRNA and protein methyltransferases (PubMed:25851604, PubMed:18539146, PubMed:20308323, PubMed:25851604, PubMed:31328227, PubMed:31636962, PubMed:31061526). Together with methyltransferase BUD23, methylates the N(7) position of a guanine in 18S rRNA (PubMed:25851604). The heterodimer with HEMK2/N6AMT1 catalyzes N5-methylation of ETF1 on 'Gln-185', using S-adenosyl L-methionine as methyl donor (PubMed:18539146, PubMed:31636962, PubMed:31061526). The heterodimer with HEMK2/N6AMT1 also monomethylates 'Lys-12' of histone H4 (H4K12me1) (PubMed:31061526). The heterodimer with ALKBH8 catalyzes the methylation of 5-carboxymethyl uridine to 5-methylcarboxymethyl uridine at the wobble position of the anticodon loop in target tRNA species (PubMed:20308323). Involved in the pre-rRNA processing steps leading to small-subunit rRNA production (PubMed:25851604). Together with methyltransferase METTL5, specifically methylates the 6th position of adenine in position 1832 of 18S rRNA (PubMed:31328227).

Phenotypes From GWAS Catalog for TRMT112 Gene

Gene Ontology (GO) - Molecular Function for TRMT112 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18539146
GO:0008276 protein methyltransferase activity IDA 18539146
GO:0016435 contributes_to rRNA (guanine) methyltransferase activity IMP 25851604
GO:0046982 protein heterodimerization activity IEA,IDA 25851604
genes like me logo Genes that share ontologies with TRMT112: view
genes like me logo Genes that share phenotypes with TRMT112: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRMT112

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TRMT112 Gene

Localization for TRMT112 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRMT112 Gene

Nucleus, nucleoplasm. Cytoplasm, perinuclear region. Note=Localizes to a polarized perinuclear structure, overlapping partially with the Golgi and lysosomes (PubMed:25851604). {ECO:0000269 PubMed:25851604}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TRMT112 gene
Compartment Confidence
nucleus 5
cytosol 4
mitochondrion 3
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubules (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TRMT112 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0032991 protein-containing complex IDA 18539146
genes like me logo Genes that share ontologies with TRMT112: view

Pathways & Interactions for TRMT112 Gene

genes like me logo Genes that share pathways with TRMT112: view

Pathways by source for TRMT112 Gene

Gene Ontology (GO) - Biological Process for TRMT112 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006364 rRNA processing IEA --
GO:0006415 translational termination TAS --
GO:0018364 peptidyl-glutamine methylation IBA,IDA 18539146
GO:0030488 tRNA methylation IBA 21873635
GO:0031167 rRNA methylation TAS --
genes like me logo Genes that share ontologies with TRMT112: view

No data available for SIGNOR curated interactions for TRMT112 Gene

Drugs & Compounds for TRMT112 Gene

No Compound Related Data Available

Transcripts for TRMT112 Gene

mRNA/cDNA for TRMT112 Gene

5 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRMT112

Alternative Splicing Database (ASD) splice patterns (SP) for TRMT112 Gene

No ASD Table

Relevant External Links for TRMT112 Gene

GeneLoc Exon Structure for
TRMT112

Expression for TRMT112 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TRMT112 Gene

Protein differential expression in normal tissues from HIPED for TRMT112 Gene

This gene is overexpressed in Bone (12.7) and Peripheral blood mononuclear cells (10.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TRMT112 Gene



Protein tissue co-expression partners for TRMT112 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TRMT112

SOURCE GeneReport for Unigene cluster for TRMT112 Gene:

Hs.333579

Evidence on tissue expression from TISSUES for TRMT112 Gene

  • Nervous system(4.8)
  • Blood(4.4)
  • Adrenal gland(4.4)
  • Lung(3.3)
  • Muscle(2.9)
  • Intestine(2.9)
  • Kidney(2.9)
  • Liver(2.8)
  • Heart(2.5)
  • Skin(2.5)
  • Spleen(2.4)
  • Stomach(2.3)
  • Eye(2.1)
genes like me logo Genes that share expression patterns with TRMT112: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TRMT112 Gene

Orthologs for TRMT112 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TRMT112 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TRMT112 30 31
  • 98.67 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TRMT112 30
  • 86.93 (n)
-- 31
  • 83 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia TRMT112 30 31
  • 84.8 (n)
ManyToMany
Rat
(Rattus norvegicus)
Mammalia Trmt112 30
  • 81.6 (n)
Mouse
(Mus musculus)
Mammalia Trmt112 30 17 31
  • 79.73 (n)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 64 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia trmt112 30
  • 62.02 (n)
Str.15155 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.6431 30
Zebrafish
(Danio rerio)
Actinopterygii trmt112 30 31
  • 60.06 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006575 30
  • 56.94 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG12975 30 31
  • 55.46 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea C04H5.1 31
  • 35 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TRM112 31 33
  • 28 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G22270 30
  • 51.91 (n)
Rice
(Oryza sativa)
Liliopsida Os07g0623000 30
  • 54.84 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6839 31
  • 44 (a)
OneToMany
Species where no ortholog for TRMT112 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for TRMT112 Gene

ENSEMBL:
Gene Tree for TRMT112 (if available)
TreeFam:
Gene Tree for TRMT112 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TRMT112: view image

Paralogs for TRMT112 Gene

genes like me logo Genes that share paralogs with TRMT112: view

No data available for Paralogs for TRMT112 Gene

Variants for TRMT112 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TRMT112 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TRMT112 Gene

Variant ID Type Subtype PubMed ID
dgv1963n54 CNV loss 21841781
esv2667562 CNV deletion 23128226
esv27107 CNV loss 19812545
esv3626659 CNV loss 21293372
nsv469961 CNV loss 18288195
nsv832186 CNV loss 17160897
nsv951010 CNV deletion 24416366

Variation tolerance for TRMT112 Gene

Residual Variation Intolerance Score: 47.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.25; 5.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TRMT112 Gene

Human Gene Mutation Database (HGMD)
TRMT112
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRMT112

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TRMT112 Gene

Disorders for TRMT112 Gene

MalaCards: The human disease database

(4) MalaCards diseases for TRMT112 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TRMT112

genes like me logo Genes that share disorders with TRMT112: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TRMT112 Gene

Publications for TRMT112 Gene

  1. The human 18S rRNA base methyltransferases DIMT1L and WBSCR22-TRMT112 but not rRNA modification are required for ribosome biogenesis. (PMID: 25851604) Zorbas C … Lafontaine DL (Molecular biology of the cell 2015) 2 3 4
  2. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang QH … Chen Z (Genome research 2000) 2 3 4
  3. KMT9 monomethylates histone H4 lysine 12 and controls proliferation of prostate cancer cells. (PMID: 31061526) Metzger E … Schüle R (Nature structural & molecular biology 2019) 3 4
  4. Human HemK2/KMT9/N6AMT1 is an active protein methyltransferase, but does not act on DNA in vitro, in the presence of Trm112. (PMID: 31632689) Woodcock CB … Cheng X (Cell discovery 2019) 3 4
  5. Structural insight into human N6amt1-Trm112 complex functioning as a protein methyltransferase. (PMID: 31636962) Li W … Ding J (Cell discovery 2019) 3 4

Products for TRMT112 Gene

Sources for TRMT112 Gene