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    Trnt1 tRNA nucleotidyl transferase, CCA-adding, 1 [ Mus musculus (house mouse) ]

    Gene ID: 70047, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Trnt1provided by MGI
    Official Full Name
    tRNA nucleotidyl transferase, CCA-adding, 1provided by MGI
    Primary source
    MGI:MGI:1917297
    See related
    Ensembl:ENSMUSG00000013736 AllianceGenome:MGI:1917297
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    CGI-47; mt-Trat; 2410043H24Rik; 2610044E04Rik; 9830143O18Rik
    Summary
    Predicted to enable CCACCA tRNA nucleotidyltransferase activity; protein homodimerization activity; and tRNA binding activity. Predicted to be involved in rescue of stalled ribosome and tRNA metabolic process. Predicted to act upstream of or within tRNA processing. Located in mitochondrion. Human ortholog(s) of this gene implicated in sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay. Orthologous to human TRNT1 (tRNA nucleotidyl transferase 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 8.5), cerebellum adult (RPKM 7.3) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Trnt1 in Genome Data Viewer
    Location:
    6 E1; 6 49.24 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (106746099..106759435)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (106769138..106782474)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene predicted gene 15631 Neighboring gene contactin 4 Neighboring gene STARR-seq mESC enhancer starr_16931 Neighboring gene STARR-seq mESC enhancer starr_16932 Neighboring gene STARR-seq mESC enhancer starr_16934 Neighboring gene STARR-seq mESC enhancer starr_16935 Neighboring gene STARR-seq mESC enhancer starr_16936 Neighboring gene STARR-positive B cell enhancer ABC_E6462 Neighboring gene STARR-positive B cell enhancer ABC_E4850 Neighboring gene STARR-positive B cell enhancer ABC_E9278 Neighboring gene STARR-seq mESC enhancer starr_16937 Neighboring gene STARR-positive B cell enhancer ABC_E3665 Neighboring gene interleukin 5 receptor, alpha Neighboring gene cereblon Neighboring gene predicted gene, 34873 Neighboring gene predicted gene, 22418

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Identification and characterization of mammalian mitochondrial tRNA nucleotidyltransferases. Nagaike T, et al. J Biol Chem, 2001 Oct 26. PMID 11504732
    2. Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome. Unda BK, et al. Mol Psychiatry, 2023 Apr. PMID 36604605, Free PMC Article
    3. Functional genomic landscape of cancer-intrinsic evasion of killing by T cells. Lawson KA, et al. Nature, 2020 Oct. PMID 32968282, Free PMC Article
    4. Construction of long-transcript enriched cDNA libraries from submicrogram amounts of total RNAs by a universal PCR amplification method. Piao Y, et al. Genome Res, 2001 Sep. PMID 11544199, Free PMC Article
    5. A mitochondrial protein compendium elucidates complex I disease biology. Pagliarini DJ, et al. Cell, 2008 Jul 11. PMID 18614015, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables CCA tRNA nucleotidyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    enables CCA tRNA nucleotidyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables CCACCA tRNA nucleotidyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables CCACCA tRNA nucleotidyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables tRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables tRNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables tRNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in mitochondrial tRNA 3'-end processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial tRNA 3'-end processing ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitochondrial tRNA 3'-end processing ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in rescue of stalled ribosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in rescue of stalled ribosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in tRNA 3'-terminal CCA addition IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in tRNA 3'-terminal CCA addition ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in tRNA 3'-terminal CCA addition ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within tRNA processing ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    involved_in tRNA surveillance IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in tRNA surveillance ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion ISA
    Inferred from Sequence Alignment
    more info
    		 PubMed 
    is_active_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    CCA tRNA nucleotidyltransferase 1, mitochondrial
    Names
    mitochondrial tRNA nucleotidyl transferase, CCA-adding
    mt CCA-adding enzyme
    mt tRNA CCA-diphosphorylase
    mt tRNA CCA-pyrophosphorylase
    mt tRNA adenylyltransferase
    tRNA adenylyltransferase, mitochondrial
    tRNA-nucleotidyltransferase 1, mitochondrial
    NP_001229287.1
    NP_001229289.1
    NP_081572.1
    XP_006506644.1
    XP_036008188.1
    XP_036008189.1
    XP_036008190.1

    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.

    mRNA and Protein(s)

    1. NM_001242358.1 → NP_001229287.1  CCA tRNA nucleotidyltransferase 1, mitochondrial isoform a

      See identical proteins and their annotated locations for NP_001229287.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      AK135791, AK139764, AK152739, BU755617
      Consensus CDS
      CCDS20397.1
      UniProtKB/Swiss-Prot
      Q3TKW1, Q3UX99, Q8K1J6, Q920N6, Q9CSX0
      Related
      ENSMUSP00000060900.10, ENSMUST00000057578.16
      Conserved Domains (1) summary
      COG0617
      Location:40 → 417
      PcnB; tRNA nucleotidyltransferase/poly(A) polymerase [Translation, ribosomal structure and biogenesis]

    2. NM_001242360.1 → NP_001229289.1  CCA tRNA nucleotidyltransferase 1, mitochondrial isoform b

      See identical proteins and their annotated locations for NP_001229289.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC153848, AK135791
      Consensus CDS
      CCDS57443.1
      UniProtKB/Swiss-Prot
      Q8K1J6
      Related
      ENSMUSP00000108873.2, ENSMUST00000113247.8
      Conserved Domains (1) summary
      COG0617
      Location:40 → 203
      PcnB; tRNA nucleotidyltransferase/poly(A) polymerase [Translation, ribosomal structure and biogenesis]

    3. NM_027296.3 → NP_081572.1  CCA tRNA nucleotidyltransferase 1, mitochondrial isoform a

      See identical proteins and their annotated locations for NP_081572.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      AK135791, AK139764, BU755617
      Consensus CDS
      CCDS20397.1
      UniProtKB/Swiss-Prot
      Q3TKW1, Q3UX99, Q8K1J6, Q920N6, Q9CSX0
      Related
      ENSMUSP00000108874.2, ENSMUST00000113248.4
      Conserved Domains (1) summary
      COG0617
      Location:40 → 417
      PcnB; tRNA nucleotidyltransferase/poly(A) polymerase [Translation, ribosomal structure and biogenesis]

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000072.7 Reference GRCm39 C57BL/6J

      Range
      106746099..106759435
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036152296.1 → XP_036008189.1  CCA tRNA nucleotidyltransferase 1, mitochondrial isoform X2

      Conserved Domains (1) summary
      cl40750
      Location:17 → 329
      PcnB; tRNA nucleotidyltransferase/poly(A) polymerase [Translation, ribosomal structure and biogenesis]

    2. XM_036152295.1 → XP_036008188.1  CCA tRNA nucleotidyltransferase 1, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q3TKW1, Q3UX99, Q8K1J6, Q920N6, Q9CSX0
      Conserved Domains (1) summary
      COG0617
      Location:40 → 417
      PcnB; tRNA nucleotidyltransferase/poly(A) polymerase [Translation, ribosomal structure and biogenesis]

    3. XM_006506581.5 → XP_006506644.1  CCA tRNA nucleotidyltransferase 1, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_006506644.1

      UniProtKB/Swiss-Prot
      Q3TKW1, Q3UX99, Q8K1J6, Q920N6, Q9CSX0
      Conserved Domains (1) summary
      COG0617
      Location:40 → 417
      PcnB; tRNA nucleotidyltransferase/poly(A) polymerase [Translation, ribosomal structure and biogenesis]

    4. XM_036152297.1 → XP_036008190.1  CCA tRNA nucleotidyltransferase 1, mitochondrial isoform X2

      Conserved Domains (1) summary
      cl40750
      Location:17 → 329
      PcnB; tRNA nucleotidyltransferase/poly(A) polymerase [Translation, ribosomal structure and biogenesis]
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8K1J6.1 GenPept UniProtKB/Swiss-Prot:Q8K1J6

    Gene LinkOut

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

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