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    TRMT44 tRNA methyltransferase 44 homolog [ Homo sapiens (human) ]

    Gene ID: 152992, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TRMT44provided by HGNC
    Official Full Name
    tRNA methyltransferase 44 homologprovided by HGNC
    Primary source
    HGNC:HGNC:26653
    See related
    Ensembl:ENSG00000155275 MIM:614309; AllianceGenome:HGNC:26653
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TRM44; C4orf23; METTL19
    Summary
    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]
    Expression
    Ubiquitous expression in ovary (RPKM 2.0), testis (RPKM 1.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TRMT44 in Genome Data Viewer
    Location:
    4p16.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (8440777..8516950)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (8420523..8496676)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (8442504..8478282)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900658 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8355016-8355566 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:8376338-8376838 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:8377985-8378502 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8383209-8383808 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8383809-8384407 Neighboring gene acyl-CoA oxidase 3, pristanoyl Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8394357-8395162 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8395893-8396860 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8396861-8397826 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:8397827-8398794 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:8405151-8405348 Neighboring gene RNA, 5S ribosomal pseudogene 152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21292 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15263 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21293 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21294 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:8442396-8443129 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21296 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8472992-8473640 Neighboring gene Sharpr-MPRA regulatory region 4448 Neighboring gene NANOG hESC enhancer GRCh37_chr4:8482448-8483174 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:8492043-8492759 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:8492867-8493385 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8500378-8500878 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8505909-8506796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8512723-8513222 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8524675-8525176 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21297 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21298 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21299 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21300 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8546250-8546937 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:8561698-8562412 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:8576398-8576952 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:8582279-8582940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8588835-8589335 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8595495-8596169 Neighboring gene uncharacterized LOC124900659 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8608601-8609168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8609169-8609736 Neighboring gene G protein-coupled receptor 78 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:8618505-8618698 Neighboring gene carboxypeptidase Z

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. DUF1613 is a novel family of eucaryotic AdoMet-dependent methyltransferases. Knizewski L, et al. Cell Cycle, 2006 Jul. PMID 16861910
    2. Q8IYL2 is a candidate gene for the familial epilepsy syndrome of Partial Epilepsy with Pericentral Spikes (PEPS). Leschziner GD, et al. Epilepsy Res, 2011 Sep. PMID 21658913
    3. Association between single nucleotide polymorphism-genotype and outcome of patients with chronic lymphocytic leukemia in a randomized chemotherapy trial. Wade R, et al. Haematologica, 2011 Oct. PMID 21659360, Free PMC Article
    4. AMPK Interactome Reveals New Function in Non-homologous End Joining DNA Repair. Chen Z, et al. Mol Cell Proteomics, 2020 Mar. PMID 31900314, Free PMC Article
    5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Hillier LW, et al. Nature, 2005 Apr 7. PMID 15815621

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. This study postulated that Q8IYL2 is a causative gene for PEPS , after exhaustive resequencing and bioinformatic analysis.
      Title: Q8IYL2 is a candidate gene for the familial epilepsy syndrome of Partial Epilepsy with Pericentral Spikes (PEPS).
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Association between single nucleotide polymorphism-genotype and outcome of patients with chronic lymphocytic leukemia in a randomized chemotherapy trial.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ12891, FLJ35725

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables tRNA (uridine) methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables tRNA(Ser) (uridine(44)-2'-O-)-methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in tRNA methylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    probable tRNA (uracil-O(2)-)-methyltransferase
    Names
    methyltransferase like 19
    methyltransferase-like protein 19
    NP_001337162.1
    NP_689757.2
    XP_011511708.1
    XP_011511709.1
    XP_011511710.1
    XP_011511711.1
    XP_011511712.1
    XP_016863300.1
    XP_047305634.1
    XP_047305635.1
    XP_047305636.1
    XP_047305637.1
    XP_047305638.1
    XP_047305639.1
    XP_047305640.1
    XP_047305641.1
    XP_047305642.1
    XP_054205030.1
    XP_054205031.1
    XP_054205032.1
    XP_054205033.1
    XP_054205034.1
    XP_054205035.1
    XP_054205036.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_032691.2 RefSeqGene

      Range
      5002..40780
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001350233.2 → NP_001337162.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of 5' coding region and initiates translation at an alternate start codon, compared to variant 2. It encodes isoform 3, which has a shorter and distinct N-terminus, compared to isoform 2.
      Source sequence(s)
      AC104825, AC105345, AW001883
      Conserved Domains (1) summary
      pfam07757
      Location:55 → 166
      AdoMet_MTase; Predicted AdoMet-dependent methyltransferase

    2. NM_152544.3 → NP_689757.2  probable tRNA (uracil-O(2)-)-methyltransferase isoform 2

      See identical proteins and their annotated locations for NP_689757.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes the longer isoform (2).
      Source sequence(s)
      AC104825, AC105345, CA450523, CB991944
      Consensus CDS
      CCDS3402.2
      UniProtKB/Swiss-Prot
      Q8IYL2, Q8NA95
      Related
      ENSP00000374387.4, ENST00000389737.5
      Conserved Domains (1) summary
      pfam07757
      Location:296 → 407
      AdoMet_MTase; Predicted AdoMet-dependent methyltransferase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      8440777..8516950
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047449685.1 → XP_047305641.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X4

    2. XM_047449681.1 → XP_047305637.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X4

    3. XM_047449679.1 → XP_047305635.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X4

    4. XM_047449680.1 → XP_047305636.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X4

    5. XM_047449683.1 → XP_047305639.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X4

    6. XM_047449684.1 → XP_047305640.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X4

    7. XM_047449682.1 → XP_047305638.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X4

    8. XM_047449678.1 → XP_047305634.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X1

      UniProtKB/Swiss-Prot
      Q8IYL2, Q8NA95

    9. XM_011513408.2 → XP_011511710.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X5

      Conserved Domains (1) summary
      pfam07757
      Location:67 → 178
      AdoMet_MTase; Predicted AdoMet-dependent methyltransferase

    10. XM_011513409.4 → XP_011511711.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X6

      See identical proteins and their annotated locations for XP_011511711.1

      Conserved Domains (1) summary
      pfam07757
      Location:55 → 166
      AdoMet_MTase; Predicted AdoMet-dependent methyltransferase

    11. XM_011513407.3 → XP_011511709.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X3

      Conserved Domains (1) summary
      pfam07757
      Location:296 → 407
      AdoMet_MTase; Predicted AdoMet-dependent methyltransferase

    12. XM_011513406.3 → XP_011511708.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X2

      Conserved Domains (1) summary
      pfam07757
      Location:296 → 407
      AdoMet_MTase; Predicted AdoMet-dependent methyltransferase

    13. XM_017007811.2 → XP_016863300.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X8

    14. XM_011513410.3 → XP_011511712.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X7

      Conserved Domains (1) summary
      pfam07757
      Location:296 → 402
      AdoMet_MTase; Predicted AdoMet-dependent methyltransferase

    15. XM_047449686.1 → XP_047305642.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      8420523..8496676
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349057.1 → XP_054205032.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X4

    2. XM_054349058.1 → XP_054205033.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X5

    3. XM_054349059.1 → XP_054205034.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X6

    4. XM_054349056.1 → XP_054205031.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X3

    5. XM_054349055.1 → XP_054205030.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X2

    6. XM_054349060.1 → XP_054205035.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X7

    7. XM_054349061.1 → XP_054205036.1  probable tRNA (uracil-O(2)-)-methyltransferase isoform X9

    RNA

    1. XR_008486938.1 RNA Sequence

    2. XR_008486933.1 RNA Sequence

    3. XR_008486934.1 RNA Sequence

    4. XR_008486936.1 RNA Sequence

    5. XR_008486937.1 RNA Sequence

    6. XR_008486935.1 RNA Sequence

    7. XR_008486939.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001031742.1: Suppressed sequence

      Description
      NM_001031742.1: This RefSeq was suppressed temporarily based on the calculation that the encoded protein was shorter than proteins from the putative ortholog from laboratory mouse: 2310079F23Rik (GeneID:78890).

    2. NM_024950.1: Suppressed sequence

      Description
      NM_024950.1: This RefSeq was permanently suppressed because it is primarily UTR sequence.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IYL2.2 GenPept UniProtKB/Swiss-Prot:Q8IYL2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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