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TRMT44 Gene

protein-coding   GIFtS: 41
GCID: GC04P008439

TRNA Methyltransferase 44 Homolog (S. Cerevisiae)

(Previous names: chromosome 4 open reading frame 23, methyltransferase like...)
(Previous symbols: C4orf23, METTL19)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
TRNA Methyltransferase 44 Homolog (S. Cerevisiae)1 2     Chromosome 4 Open Reading Frame 231
METTL191 2 3 5     TRM442
C4orf231 2 3     Probable TRNA (Uracil-O(2)-)-Methyltransferase2
Methyltransferase Like 191 2     EC 2.1.1.2113
Methyltransferase-Like Protein 192 3     EC 2.1.18

External Ids:    HGNC: 266531   Entrez Gene: 1529922   Ensembl: ENSG000001552757   OMIM: 6143095   UniProtKB: Q8IYL23   

Export aliases for TRMT44 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (S. cerevisiae)) is a protein-coding gene. Diseases associated with TRMT44 include epilepsy syndrome, and chronic lymphocytic leukemia. GO annotations related to this gene include methyltransferase activity.

UniProtKB/Swiss-Prot: TRM44_HUMAN, Q8IYL2
Function: Probable adenosyl-L-methionine (AdoMet)-dependent tRNA (uracil-O(2)-)-methyltransferase (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000004.12  NT_006051.19  NC_018915.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for TRMT44
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for TRMT44

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TRMT44


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4p16.1   Ensembl cytogenetic band:  4p16.1   HGNC cytogenetic band: 4p16.1

TRMT44 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TRMT44 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P008439:  view genomic region     (about GC identifiers)

Start:
8,437,867 bp from pter      End:
8,495,258 bp from pter
Size:
57,392 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: TRM44_HUMAN, Q8IYL2 (See protein sequence)
Recommended Name: Probable tRNA (uracil-O(2)-)-methyltransferase  
Size: 757 amino acids; 84629 Da
Secondary accessions: Q8NA95
Alternative splicing: 3 isoforms:  Q8IYL2-1   Q8IYL2-2   Q8IYL2-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TRMT44: NX_Q8IYL2

Explore proteomics data for TRMT44 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for TRMT44 (Q8IYL2)
     DLGCGNG  ELKEKYKE 


    See TRMT44 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_689757.2  
    ENSEMBL proteins: 
     ENSP00000424643   ENSP00000374387   ENSP00000434207  

    TRMT44 Human Recombinant Protein Products:

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR000571 Znf_CCCH
     IPR011671 tRNA_uracil_MeTrfase

    Graphical View of Domain Structure for InterPro Entry Q8IYL2

    ProtoNet protein and cluster: Q8IYL2

    UniProtKB/Swiss-Prot: TRM44_HUMAN, Q8IYL2
    Similarity: Belongs to the TRM44 family
    Similarity: Contains 1 C3H1-type zinc finger


    TRMT44 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TRM44_HUMAN, Q8IYL2
    Function: Probable adenosyl-L-methionine (AdoMet)-dependent tRNA (uracil-O(2)-)-methyltransferase (By similarity)
    Catalytic activity: S-adenosyl-L-methionine + uridine(44) in tRNA(Ser) = S-adenosyl-L-homocysteine +
    2'-O-methyluridine(44) in tRNA(Ser)

         Enzyme Numbers (IUBMB): EC 2.1.12 EC 2.1.1.2111

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008168methyltransferase activity IEA--
    GO:0046872metal ion binding IEA--
         
    TRMT44 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TRMT44
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    miRNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TRMT44

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    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TRMT44


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TRM44_HUMAN, Q8IYL2: Cytoplasm (Probable)

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

    TRMT44 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TRMT44
    Interactions:

        Search GeneGlobe Interaction Network for TRMT44

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008033tRNA processing IEA--

    TRMT44 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TRMT44 (TRM44)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TRMT44 gene (3 alternative transcripts): 
    NM_152544.2  NM_001031742.1  NM_024950.1  

    Unigene Cluster for TRMT44:

    TRNA methyltransferase 44 homolog (S. cerevisiae)
    Hs.566191  [show with all ESTs]
    Unigene Representative Sequence: NM_152544
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000532937 ENST00000513449(uc003glf.1) ENST00000528167 ENST00000389737
    ENST00000504134 ENST00000532477 ENST00000531038 ENST00000511149 ENST00000511366(uc003glg.2 uc003glh.1 uc003gli.1)

    miRNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TRMT44
    Primer
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    OriGene qPCR primer pairs and template standards for TRMT44
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      QuantiTect SYBR Green Assays in human, mouse, rat TRMT44
      QuantiFast Probe-based Assays in human, mouse, rat TRMT44

    Additional mRNA sequence: 

    AK093044.1 BC035655.1 

    7 DOTS entries:

    DT.40108101  DT.100019704  DT.309383  DT.434305  DT.92036858  DT.95121794  DT.309385 

    Selected AceView cDNA sequences (see all 70):

    BM913327 CR604280 NM_152544 AK093044 AW449191 BE048583 BM553149 AX747880 
    CB306073 BG751175 BC035655 AA235671 BE348653 BF108709 AW779547 F10873 
    AJ707605 CA450523 AK091382 AK092387 BE856998 CB991944 BG390244 AW027639 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for TRMT44    About this scheme

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


    ECgene alternative splicing isoforms for TRMT44

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TRMT44 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TRMT44 Expression
    About this image


    TRMT44 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     NULL (Uncategorized)
             Definitive endoderm-like cells
    TRMT44 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TRMT44 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.566191
        Custom PCR Arrays for TRMT44
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TRMT44

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for TRMT44 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Trmt441 , 5 RIKEN cDNA 2310079F23 gene5
    tRNA methyltransferase 441
    73.15(n)1
    70.28(a)1
      5 (18.25 cM)5
    788901  NM_030208.31  NP_084484.21 
     355572065 
    chicken
    (Gallus gallus)
    Aves METTL191 methyltransferase like 19 64.79(n)
    62.61(a)
      422871  XM_420816.1  XP_420816.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    72(a)
    56(a)
    many → 1
    many → 1
    GL343236.1(1693065-1704536)
    GL343236.1(1707655-1712329)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3985342 hypothetical protein LOC398534 77.39(n)    BC043909.1 
    zebrafish
    (Danio rerio)
    Actinopterygii trmt441 tRNA methyltransferase 44 homolog (S. cerevisiae) 58.66(n)
    57.42(a)
      450066  NM_001006086.2  NP_001006086.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG93861 CG9386 50.32(n)
    45.96(a)
      41148  NM_141647.5  NP_649904.2 
    worm
    (Caenorhabditis elegans)
    Secernentea C23G10.76
    Protein C23G10.7, isoform c
    28(a)
    1 ↔ 1
    III(6195985-6198414) WBGene00016014
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TRM446
    tRNA(Ser) Um(44) 2'-O-methyltransferase; involved ...
    21(a)
    1 ↔ 1
    XVI(493543-495246) YPL030W


    ENSEMBL Gene Tree for TRMT44 (if available)
    TreeFam Gene Tree for TRMT44 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TRMT44 (see all 1000)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs30686171,2
    C--8361531(+) AACAA-/AAGTCAG 1 -- us2k10--------
    rs1878292241,2
    --8418495(+) CGAGAC/TCAAGC 1 -- us2k10--------
    rs1478735921,2
    --8418500(+) CCAAGA/CTGTTG 1 -- us2k10--------
    rs622873601,2
    C,F--8418537(+) ACTCCG/AGAGGC 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs1924986911,2
    --8418586(+) AAGCCC/TGGCTC 1 -- us2k10--------
    rs730895031,2
    C,F--8418629(+) ATGGCC/TGAAGC 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1135414911,2
    C,F--8418642(+) GAGGAC/GTTGTC 1 -- us2k13Minor allele frequency- G:0.11NA WA 240
    rs1511064451,2
    --8418786(+) TGTATA/GTTGTT 1 -- us2k10--------
    rs125114171,2
    C,F,H--8418835(+) ACCTAT/CATAAG 1 -- us2k112Minor allele frequency- C:0.02NS EA NA CSA 1322
    rs1137124281,2
    C,F--8418906(+) AATTCC/TGAGTC 1 -- us2k12Minor allele frequency- T:0.13CSA WA 120

    HapMap Linkage Disequilibrium report for TRMT44 (8437867 - 8495258 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for TRMT44: --
    Human Gene Mutation Database (HGMD): TRMT44
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TRMT44
    DNA2.0 Custom Variant and Variant Library Synthesis for TRMT44

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 614309    OMIM disorders: --

    4 diseases for TRMT44:    
    About MalaCards
    epilepsy syndrome    chronic lymphocytic leukemia    malaria    leukemia


    TRMT44 for disorders           About GeneDecksing


    Export disorders for TRMT44 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TRMT44 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with TRMT44)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Q8IYL2 is a candidate gene for the familial epilepsy syndrome of partial epilepsy with pericentral spikes (PEPS). (PubMed id 21658913)1, 2, 3 Leschziner G.D.... Johnson M.R. (Epilepsy Res. 2011)
    2. DUF1613 is a novel family of eucaryotic AdoMet-dependent methyltransferases. (PubMed id 16861910)1, 2 Knizewski L. and Ginalski K. (Cell Cycle 2006)
    3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    7. Activity-based chemical proteomics accelerates inhibitor development for deubiquitylating enzymes. (PubMed id 22118674)1 Altun M....Kessler B.M. (amp 2011)
    8. Association between single nucleotide polymorphism-genotype and outcome of patients with chronic lymphocytic leukemia in a randomized chemotherapy trial. (PubMed id 21659360)1 Wade R....Houlston R.S. (Haematologica 2011)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    10. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (Genome Res. 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 152992 HGNC: 26653 AceView: FLJ35725 Ensembl:ENSG00000155275 euGenes: HUgn152992
    ECgene: TRMT44 H-InvDB: TRMT44

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TRMT44 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TRMT44 gene:
    Search GeneIP for patents involving TRMT44

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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