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    TRMT9B tRNA methyltransferase 9B (putative) [ Homo sapiens (human) ]

    Gene ID: 57604, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TRMT9Bprovided by HGNC
    Official Full Name
    tRNA methyltransferase 9B (putative)provided by HGNC
    Primary source
    HGNC:HGNC:26725
    See related
    Ensembl:ENSG00000250305 MIM:615666; AllianceGenome:HGNC:26725
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TRM9L; hTRM9L; C8orf79; KIAA1456
    Summary
    Enables tRNA methyltransferase activity. Predicted to be involved in tRNA methylation and tRNA wobble uridine modification. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in thyroid (RPKM 9.8), brain (RPKM 1.5) and 7 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TRMT9B in Genome Data Viewer
    Location:
    8p22
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (12945673..13029777)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (13211952..13296089)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (12803182..12887286)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 3019 Neighboring gene NANOG hESC enhancer GRCh37_chr8:12651516-12652033 Neighboring gene long intergenic non-protein coding RNA 681 Neighboring gene uncharacterized LOC105379289 Neighboring gene NANOG hESC enhancer GRCh37_chr8:12726438-12727079 Neighboring gene NANOG hESC enhancer GRCh37_chr8:12758236-12758737 Neighboring gene NANOG hESC enhancer GRCh37_chr8:12799399-12799938 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18955 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:12808376-12808876 Neighboring gene regulator of solute carriers 1 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:12829815-12830334 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:12834091-12834678 Neighboring gene uncharacterized LOC124901889 Neighboring gene Sharpr-MPRA regulatory region 1393 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:12898718-12898926 Neighboring gene uncharacterized LOC124902103 Neighboring gene RNA, U6 small nuclear 842, pseudogene

    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. [Overexpression of KIAA1456 inhibits the proliferation of HO8910PM cells]. Chen H, et al. Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi, 2016 Sep. PMID 27609572
    2. Expanded tRNA methyltransferase family member TRMT9B regulates synaptic growth and function. Hogan CA, et al. EMBO Rep, 2023 Oct 9. PMID 37642556, Free PMC Article
    3. A human tRNA methyltransferase 9-like protein prevents tumour growth by regulating LIN9 and HIF1-α. Begley U, et al. EMBO Mol Med, 2013 Mar. PMID 23381944, Free PMC Article
    4. A genome-wide association study of clinical symptoms of dissociation in a trauma-exposed sample. Wolf EJ, et al. Depress Anxiety, 2014 Apr. PMID 24677629, Free PMC Article
    5. Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study. Lunetta KL, et al. BMC Med Genet, 2007 Sep 19. PMID 17903295, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Over-expression of KIAA1456 inhibits the proliferation of HO8910PM ovarian cancer cells and arrests the cell cycle in G1 phase.
      Title: [Overexpression of KIAA1456 inhibits the proliferation of HO8910PM cells].
    2. Study links hTRM9L and tRNA modifications to inhibition of tumour growth via LIN9 and HIF1-alpha-dependent mechanisms.
      Title: A human tRNA methyltransferase 9-like protein prevents tumour growth by regulating LIN9 and HIF1-α.
    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
    A genome-wide association study of clinical symptoms of dissociation in a trauma-exposed sample.
    EBI GWAS Catalog
    Genome-wide diet-gene interaction analyses for risk of colorectal cancer.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies new susceptibility loci for migraine.
    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

    • FLJ36980, KIAA1456, MGC43113

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables S-adenosylmethionine-dependent methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables tRNA (5-carboxymethyluridine(34)-5-O)-methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables tRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables tRNA methyltransferase activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in tRNA methylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in tRNA modification TAS
    Traceable Author Statement
    more info
    		  
    involved_in tRNA wobble uridine modification 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
    		  
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    probable tRNA methyltransferase 9B
    Names
    probable tRNA methyltransferase 9-like protein

    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.

    mRNA and Protein(s)

    1. NM_001099677.1 → NP_001093147.1  probable tRNA methyltransferase 9B isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has multiple differences in the presence and absence of exons at its 5' end, compared to variant 1. These differences produce a unique 5' UTR and cause translation initiation at a downstream start codon, compared to variant 1. The encoded protein (isoform 2) is shorter than isoform 1.
      Source sequence(s)
      AC135352, AK125638, AW295329, DR001645

    2. NM_020844.3 → NP_065895.2  probable tRNA methyltransferase 9B isoform 1

      See identical proteins and their annotated locations for NP_065895.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB040889, AC135352, AW295329, DA390356, DC334299
      Consensus CDS
      CCDS47808.1
      UniProtKB/Swiss-Prot
      K7EM26, Q8N9K7, Q96AW6, Q9P272
      UniProtKB/TrEMBL
      A0AAG2TM35
      Related
      ENSP00000432695.1, ENST00000524591.7
      Conserved Domains (1) summary
      pfam13649
      Location:48 → 135
      Methyltransf_25; Methyltransferase domain

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      12945673..13029777
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654717.1 Reference GRCh38.p14 PATCHES

      Range
      6141094..6225206
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      13211952..13296089
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P272.3 GenPept UniProtKB/Swiss-Prot:Q9P272

    Gene LinkOut

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

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