TRMT44 Gene (Protein Coding)

TRNA Methyltransferase 44 Homolog

GC04P008439
GIFtS:
32
The protein encoded by this gene is a putative tRNA methyltransferase found in the cytoplasm. Defects in this gene may be a cause of partial epilepsy with pericentral spikes (PEPS), but that has not been proven definitively. [provided by RefSeq, May 2012] See more...

Aliases for TRMT44 Gene

Aliases for TRMT44 Gene

  • TRNA Methyltransferase 44 Homolog 2 3 5
  • Probable TRNA (Uracil-O(2)-)-Methyltransferase 3 4
  • Methyltransferase-Like Protein 19 3 4
  • Methyltransferase Like 19 2 3
  • C4orf23 3 4
  • METTL19 3 4
  • TRM44 2 3
  • TRNA Methyltransferase 44 Homolog (S. Cerevisiae) 2
  • Chromosome 4 Open Reading Frame 23 2
  • EC 2.1.1.211 4
  • FLJ35725 2
  • EC 2.1.1 51
  • TRMT44 5

External Ids for TRMT44 Gene

Previous HGNC Symbols for TRMT44 Gene

  • C4orf23
  • METTL19

Summaries for TRMT44 Gene

Entrez Gene Summary for TRMT44 Gene

  • The protein encoded by this gene is a putative tRNA methyltransferase found in the cytoplasm. Defects in this gene may be a cause of partial epilepsy with pericentral spikes (PEPS), but that has not been proven definitively. [provided by RefSeq, May 2012]

GeneCards Summary for TRMT44 Gene

TRMT44 (TRNA Methyltransferase 44 Homolog) is a Protein Coding gene. Diseases associated with TRMT44 include Epilepsy and Non-Syndromic X-Linked Intellectual Disability. Among its related pathways are Gene Expression and tRNA processing. Gene Ontology (GO) annotations related to this gene include methyltransferase activity.

UniProtKB/Swiss-Prot Summary for TRMT44 Gene

  • Probable adenosyl-L-methionine (AdoMet)-dependent tRNA (uracil-O(2)-)-methyltransferase.

Additional gene information for TRMT44 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TRMT44 Gene

Genomics for TRMT44 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for TRMT44 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 TRMT44 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TRMT44

Genomic Locations for TRMT44 Gene

Genomic Locations for TRMT44 Gene
chr4:8,436,140-8,512,531
(GRCh38/hg38)
Size:
76,392 bases
Orientation:
Plus strand
chr4:8,437,867-8,495,258
(GRCh37/hg19)
Size:
57,392 bases
Orientation:
Plus strand

Genomic View for TRMT44 Gene

Genes around TRMT44 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRMT44 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRMT44 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TRMT44 Gene

Proteins for TRMT44 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for TRMT44 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IYL2-TRM44_HUMAN
    Recommended name:
    Probable tRNA (uracil-O(2)-)-methyltransferase
    Protein Accession:
    Q8IYL2
    Secondary Accessions:
    • Q8NA95

    Protein attributes for TRMT44 Gene

    Size:
    757 amino acids
    Molecular mass:
    84629 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TRMT44 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TRMT44 Gene

Protein Expression for TRMT44 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for TRMT44 Gene

Q8IYL2:
  • ELKEKYKE
  • DLGCGNG

Post-translational modifications for TRMT44 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TRMT44 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for TRMT44 Gene

Gene Families for TRMT44 Gene

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

Protein Domains for TRMT44 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TRMT44 Gene

GenScript: Design optimal peptide antigens:
  • Methyltransferase-like protein 19 (TRM44_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IYL2

UniProtKB/Swiss-Prot:

TRM44_HUMAN :
  • Belongs to the TRM44 family.
Family:
  • Belongs to the TRM44 family.
genes like me logo Genes that share domains with TRMT44: view

Function for TRMT44 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for TRMT44 Gene

UniProtKB/Swiss-Prot Function:
Probable adenosyl-L-methionine (AdoMet)-dependent tRNA (uracil-O(2)-)-methyltransferase.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=S-adenosyl-L-methionine + uridine(44) in tRNA(Ser) = 2'-O-methyluridine(44) in tRNA(Ser) + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:43100, Rhea:RHEA-COMP:10339, Rhea:RHEA-COMP:10340, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:65315, ChEBI:CHEBI:74478; EC=2.1.1.211;.

Enzyme Numbers (IUBMB) for TRMT44 Gene

Phenotypes From GWAS Catalog for TRMT44 Gene

Gene Ontology (GO) - Molecular Function for TRMT44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008168 methyltransferase activity IEA --
GO:0016300 tRNA (uracil) methyltransferase activity IBA 21873635
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with TRMT44: view
genes like me logo Genes that share phenotypes with TRMT44: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRMT44

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TRMT44 Gene

Localization for TRMT44 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRMT44 Gene

Cytoplasm.

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 TRMT44 gene
Compartment Confidence
nucleus 3
mitochondrion 1
peroxisome 0

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for TRMT44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with TRMT44: view

Pathways & Interactions for TRMT44 Gene

PathCards logo

SuperPathways for TRMT44 Gene

genes like me logo Genes that share pathways with TRMT44: view

Pathways by source for TRMT44 Gene

Gene Ontology (GO) - Biological Process for TRMT44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008033 tRNA processing IEA --
GO:0030488 tRNA methylation IBA 21873635
GO:0032259 methylation IEA --
genes like me logo Genes that share ontologies with TRMT44: view

No data available for SIGNOR curated interactions for TRMT44 Gene

Drugs & Compounds for TRMT44 Gene

Products:

  1. Drug

(1) Drugs for TRMT44 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
s-adenosylhomocysteine Experimental Pharma 0

(1) Additional Compounds for TRMT44 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-Carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
 485-80-3
genes like me logo Genes that share compounds with TRMT44: view

Transcripts for TRMT44 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for TRMT44 Gene

4 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRMT44

Alternative Splicing Database (ASD) splice patterns (SP) for TRMT44 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b · 12c
SP1: - -
SP2: - - - -
SP3: -
SP4: -
SP5:

Relevant External Links for TRMT44 Gene

GeneLoc Exon Structure for
TRMT44

Expression for TRMT44 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TRMT44 Gene

mRNA expression in normal human tissues for TRMT44 Gene
mRNA expression by GTEx for TRMT44 GenemRNA expression by BioGPS for TRMT44 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TRMT44 Gene

This gene is overexpressed in Platelet (68.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TRMT44 Gene



Protein tissue co-expression partners for TRMT44 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TRMT44

SOURCE GeneReport for Unigene cluster for TRMT44 Gene:

Hs.566191
genes like me logo Genes that share expression patterns with TRMT44: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for TRMT44 Gene

Orthologs for TRMT44 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TRMT44 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia TRMT44 30 31
  • 95.76 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia TRMT44 30 31
  • 77.82 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia TRMT44 30 31
  • 77.49 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Trmt44 30
  • 73.86 (n)
Mouse
(Mus musculus)
 Mammalia Trmt44 30 17 31
  • 73.15 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia TRMT44 31
  • 69 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia TRMT44 31
  • 62 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves METTL19 30
  • 64.79 (n)
TRMT44 31
  • 61 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 72 (a)
 OneToMany
-- 31
  • 56 (a)
 OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia trmt44 30
  • 66.88 (n)
Str.3599 30
African clawed frog
(Xenopus laevis)
 Amphibia LOC398534 30
Zebrafish
(Danio rerio)
 Actinopterygii trmt44 30 31
  • 58.66 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP006663 30
  • 53.21 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta CG9386 30 31
  • 50.32 (n)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea C23G10.7 31
  • 28 (a)
 OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes TRM44 31
  • 21 (a)
 OneToOne
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 49 (a)
 OneToOne
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.8390 30
Species where no ortholog for TRMT44 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)
  • 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)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for TRMT44 Gene

ENSEMBL:
Gene Tree for TRMT44 (if available)
TreeFam:
Gene Tree for TRMT44 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TRMT44: view image

Paralogs for TRMT44 Gene

No data available for Paralogs for TRMT44 Gene

Variants for TRMT44 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TRMT44 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs150441746 - p.Gly641Ala
rs1880024 - p.Arg352Gly
rs34873641 - p.Ile455Val
rs73211375 - p.Met300Leu

Additional dbSNP identifiers (rs#s) for TRMT44 Gene

Structural Variations from Database of Genomic Variants (DGV) for TRMT44 Gene

Variant ID Type Subtype PubMed ID
esv34196 OTHER inversion 12058347
esv3599546 CNV loss 21293372
nsv1002794 CNV gain 25217958
nsv1005698 CNV gain 25217958
nsv461220 CNV loss 19166990
nsv593638 CNV loss 21841781
nsv829854 CNV gain+loss 17160897

Variation tolerance for TRMT44 Gene

Residual Variation Intolerance Score: 94.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.70; 57.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TRMT44 Gene

Human Gene Mutation Database (HGMD)
TRMT44
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRMT44

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRMT44 Gene

Disorders for TRMT44 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TRMT44 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
epilepsy
  • epilepsy syndrome
non-syndromic x-linked intellectual disability
  • non-specific x-linked mental retardation
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TRMT44

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TRMT44: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TRMT44 Gene

Publications for TRMT44 Gene

  1. Q8IYL2 is a candidate gene for the familial epilepsy syndrome of Partial Epilepsy with Pericentral Spikes (PEPS). (PMID: 21658913) Leschziner GD … Johnson MR (Epilepsy research 2011) 2 3 4
  2. DUF1613 is a novel family of eucaryotic AdoMet-dependent methyltransferases. (PMID: 16861910) Knizewski L … Ginalski K (Cell cycle (Georgetown, Tex.) 2006) 3 4
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

ExternalLinks

View latest publications for TRMT44 gene in Mastermind

Products for TRMT44 Gene

Sources for TRMT44 Gene