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    TRMT5 tRNA methyltransferase 5 [ Homo sapiens (human) ]

    Gene ID: 57570, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TRMT5provided by HGNC
    Official Full Name
    tRNA methyltransferase 5provided by HGNC
    Primary source
    HGNC:HGNC:23141
    See related
    Ensembl:ENSG00000126814 MIM:611023; AllianceGenome:HGNC:23141
    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
    TRM5; PNSED; COXPD26; KIAA1393
    Summary
    tRNAs contain as many as 13 or 14 nucleotides that are modified posttranscriptionally by enzymes that are highly specific for particular nucleotides in the tRNA structure. TRMT5 methylates the N1 position of guanosine-37 (G37) in selected tRNAs using S-adenosyl methionine (Brule et al., 2004 [PubMed 15248782]).[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in testis (RPKM 5.1), ovary (RPKM 4.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TRMT5 in Genome Data Viewer
    Location:
    14q23.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (60971441..60981690, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (55177981..55188230, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (61438159..61448408, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:61246210-61246710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:61246711-61247211 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:61256800-61257329 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:61260034-61260243 Neighboring gene MNAT1 component of CDK activating kinase Neighboring gene mitotic arrest deficient 2 like 1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 12651 Neighboring gene Sharpr-MPRA regulatory region 14697 Neighboring gene Sharpr-MPRA regulatory region 5996 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8484 Neighboring gene SRM pseudogene 2 Neighboring gene RNA, U6 small nuclear 398, pseudogene Neighboring gene uncharacterized LOC101927756 Neighboring gene solute carrier family 38 member 6 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:61555743-61556244 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8485 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:61567888-61568804 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:61570068-61571267 Neighboring gene Sharpr-MPRA regulatory region 14232 Neighboring gene NANOG hESC enhancer GRCh37_chr14:61641010-61641511 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:61644371-61644872 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:61644987-61646186 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8486 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:61721487-61722686 Neighboring gene protein kinase C eta Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:61736629-61737128 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:61746518-61747481 Neighboring gene transmembrane protein 30B

    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 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. Conservation of structure and mechanism by Trm5 enzymes. Christian T, et al. RNA, 2013 Sep. PMID 23887145, Free PMC Article
    2. A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy. Argente-Escrig H, et al. Neuropathol Appl Neurobiol, 2022 Aug. PMID 35342985
    3. Isolation and characterization of the human tRNA-(N1G37) methyltransferase (TRM5) and comparison to the Escherichia coli TrmD protein. Brulé H, et al. Biochemistry, 2004 Jul 20. PMID 15248782
    4. TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies. Powell CA, et al. Am J Hum Genet, 2015 Aug 6. PMID 26189817, Free PMC Article
    5. Proximity labeling reveals OTUD3 as a DNA-binding deubiquitinase of cGAS. Lyu H, et al. Cell Rep, 2023 Apr 25. PMID 36966392

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy.
      Title: A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy.
    2. TRMT5 mutations cause a defect in post-transcriptional modification of mitochondrial tRNA associated with multiple respiratory-chain deficiencies.
      Title: TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies.
    3. Conservation of structure and mechanism by Trm5 enzymes
      Title: Conservation of structure and mechanism by Trm5 enzymes.
    4. comparison of human TRM5 and E Coli TrmD activities, requirements for optimal activity, and tRNA methylation sites
      Title: Isolation and characterization of the human tRNA-(N1G37) methyltransferase (TRM5) and comparison to the Escherichia coli TrmD protein.
    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

    Associated conditions

    Description Tests
    Combined oxidative phosphorylation defect type 26
    MedGen: C5567741 OMIM: 616539 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of TRM5 tRNA methyltransferase 5 homolog (TRMT5) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    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

    • MGC111453

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables tRNA (guanine(37)-N1)-methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables tRNA methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in mitochondrial tRNA methylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial tRNA methylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in tRNA N1-guanine methylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in mitochondrial matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    tRNA (guanine(37)-N1)-methyltransferase
    Names
    M1G-methyltransferase
    TRM5 tRNA methyltransferase 5 homolog
    tRNA (guanine-N(1)-)-methyltransferase
    tRNA [GM37] methyltransferase
    tRNA-N1G37 methyltransferase
    NP_001337182.1
    NP_001337183.1
    NP_065861.3

    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_053119.1 RefSeqGene

      Range
      5612..15250
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001350253.1 → NP_001337182.1  tRNA (guanine(37)-N1)-methyltransferase isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AL160236, KF455905
      Conserved Domains (1) summary
      cl27846
      Location:125 → 497
      Met_10; Met-10+ like-protein

    2. NM_001350254.1 → NP_001337183.1  tRNA (guanine(37)-N1)-methyltransferase isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate 5' terminal exon, resulting in a different 5' UTR and the use of an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus, and is shorter, compared to isoform 1.
      Source sequence(s)
      AL160236, KF455905
      Conserved Domains (1) summary
      cl27846
      Location:124 → 496
      Met_10; Met-10+ like-protein

    3. NM_020810.3 → NP_065861.3  tRNA (guanine(37)-N1)-methyltransferase isoform 3

      See identical proteins and their annotated locations for NP_065861.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate 5' terminal exon, resulting in a different 5' UTR and the use of an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus, and is shorter, compared to isoform 1.
      Source sequence(s)
      AK293158, AL160236, DC370229
      Consensus CDS
      CCDS32092.1
      UniProtKB/Swiss-Prot
      B2RN19, Q32P41, Q9P2F4
      Related
      ENSP00000261249.6, ENST00000261249.7
      Conserved Domains (1) summary
      cl27846
      Location:97 → 469
      Met_10; Met-10+ like-protein

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      60971441..60981690 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      55177981..55188230 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q32P41.3 GenPept UniProtKB/Swiss-Prot:Q32P41

    Gene LinkOut

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

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