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    Tent5a terminal nucleotidyltransferase 5A [ Mus musculus (house mouse) ]

    Gene ID: 212943, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Tent5aprovided by MGI
    Official Full Name
    terminal nucleotidyltransferase 5Aprovided by MGI
    Primary source
    MGI:MGI:2670964
    See related
    Ensembl:ENSMUSG00000032265 AllianceGenome:MGI:2670964
    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
    BAP014; Fam46a; D930050G01Rik
    Summary
    Predicted to enable RNA adenylyltransferase activity. Acts upstream of or within response to bacterium. Is expressed in several structures, including heart; jaw; liver; oral epithelium; and skeleton. Human ortholog(s) of this gene implicated in lung non-small cell carcinoma; osteoarthritis; and osteogenesis imperfecta type 18. Orthologous to human TENT5A (terminal nucleotidyltransferase 5A). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in colon adult (RPKM 11.3), placenta adult (RPKM 10.4) and 25 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    9 E3.1; 9 46.04 cM
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (85202492..85209203, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (85320439..85327150, complement)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4930554C24 gene Neighboring gene STARR-seq mESC enhancer starr_24811 Neighboring gene predicted gene, 36366 Neighboring gene STARR-seq mESC enhancer starr_24812 Neighboring gene STARR-seq mESC enhancer starr_24814 Neighboring gene STARR-seq mESC enhancer starr_24816 Neighboring gene STARR-seq mESC enhancer starr_24817 Neighboring gene DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 pseudogene Neighboring gene STARR-seq mESC enhancer starr_24818 Neighboring gene STARR-positive B cell enhancer mm9_chr9:85233807-85234107 Neighboring gene STARR-seq mESC enhancer starr_24819 Neighboring gene STARR-seq mESC enhancer starr_24820 Neighboring gene predicted gene, 25125 Neighboring gene STARR-seq mESC enhancer starr_24821 Neighboring gene STARR-seq mESC enhancer starr_24822 Neighboring gene RIKEN cDNA 4933431K14 gene Neighboring gene STARR-positive B cell enhancer ABC_E1792 Neighboring gene STARR-positive B cell enhancer ABC_E1793 Neighboring gene inhibitor of Bruton agammaglobulinemia tyrosine kinase

    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. Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia. Diener S, et al. Mamm Genome, 2016 Apr. PMID 26803617
    2. Family-with-sequence-similarity-46, member A (Fam46a) gene is expressed in developing tooth buds. Etokebe GE, et al. Arch Oral Biol, 2009 Nov. PMID 19740458
    3. FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta. Doyard M, et al. J Med Genet, 2018 Apr. PMID 29358272
    4. Cytoplasmic polyadenylation by TENT5A is required for proper bone formation. Gewartowska O, et al. Cell Rep, 2021 Apr 20. PMID 33882302
    5. New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis. Sabrautzki S, et al. Mamm Genome, 2012 Aug. PMID 22527485, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Cytoplasmic polyadenylation by TENT5A is required for proper bone formation.
      Title: Cytoplasmic polyadenylation by TENT5A is required for proper bone formation.
    2. By RT-PCR analysis, we detected specific expression of FAM46A in human osteoblasts andinterestingly, a nonsense mutation in Fam46a has been recently identified in an ENU-derived (N-ethyl-N-nitrosourea) mouse model characterised by decreased body length, limb, rib, pelvis, and skull deformities and reduced cortical thickness in long bones.
      Title: FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.
    3. expressed in ameloblasts' nuclei of tooth germs and might act together with morphogenetic factors important for the formation of enamel in mouse tooth
      Title: Family-with-sequence-similarity-46, member A (Fam46a) gene is expressed in developing tooth buds.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    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 poly(A) RNA polymerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables poly(A) RNA polymerase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables poly(A) RNA polymerase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in mRNA stabilization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of bone mineralization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of osteoblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of ossification IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within response to bacterium IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    terminal nucleotidyltransferase 5A
    Names
    family with sequence similarity 46, member A
    NP_001153850.1
    NP_001153851.1

    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_001160378.1 → NP_001153850.1  terminal nucleotidyltransferase 5A isoform 1

      See identical proteins and their annotated locations for NP_001153850.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC159809, CB235718
      Consensus CDS
      CCDS52875.1
      UniProtKB/Swiss-Prot
      D3Z5S8
      Related
      ENSMUSP00000034802.9, ENSMUST00000034802.15
      Conserved Domains (1) summary
      pfam07984
      Location:71 → 388
      NTP_transf_7; Nucleotidyltransferase

    2. NM_001160379.1 → NP_001153851.1  terminal nucleotidyltransferase 5A isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding region and initiates translation at an alternate start codon, compared to variant 1. The encodes isoform 92) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC159809, AK135132
      Consensus CDS
      CCDS81046.1
      UniProtKB/TrEMBL
      A0A087WS27
      Related
      ENSMUSP00000140869.2, ENSMUST00000187711.2
      Conserved Domains (1) summary
      pfam07984
      Location:52 → 369
      NTP_transf_7; Nucleotidyltransferase

    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_000075.7 Reference GRCm39 C57BL/6J

      Range
      85202492..85209203 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    D3Z5S8.2 GenPept UniProtKB/Swiss-Prot:D3Z5S8

    Gene LinkOut

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