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

Gene ID: 212943, updated on 27-Nov-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
Enables poly(A) RNA polymerase activity. Involved in positive regulation of bone mineralization and positive regulation of osteoblast differentiation. Acts upstream of or within response to bacterium. Located in cytoplasm. 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, Nov 2024]
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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See Tent5a in Genome Data Viewer
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 (21) 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
  
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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