Human Gene TRNT1 (uc003bpp.4) Description and Page Index
Description: Homo sapiens tRNA nucleotidyl transferase, CCA-adding, 1 (TRNT1), nuclear gene encoding mitochondrial protein, mRNA. RefSeq Summary (NM_182916): The protein encoded by this gene is a CCA-adding enzyme which belongs to the tRNA nucleotidyltransferase/poly(A) polymerase family. This essential enzyme functions by catalyzing the addition of the conserved nucleotide triplet CCA to the 3' terminus of tRNA molecules. Mutations in this gene result in sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]. Transcript (Including UTRs) Position: hg19 chr3:3,168,600-3,190,706 Size: 22,107 Total Exon Count: 8 Strand: + Coding Region Position: hg19 chr3:3,170,725-3,189,838 Size: 19,114 Coding Exon Count: 7
ID:TRNT1_HUMAN DESCRIPTION: RecName: Full=CCA tRNA nucleotidyltransferase 1, mitochondrial; EC=18.104.22.168; AltName: Full=Mitochondrial tRNA nucleotidyl transferase, CCA-adding; AltName: Full=mt CCA-adding enzyme; AltName: Full=mt tRNA CCA-diphosphorylase; AltName: Full=mt tRNA CCA-pyrophosphorylase; AltName: Full=mt tRNA adenylyltransferase; Flags: Precursor; FUNCTION: Isoform 1: Adds and repairs the conserved 3'-CCA sequence necessary for the attachment of amino acids to the 3' terminus of tRNA molecules, using CTP and ATP as substrates. FUNCTION: Isoform 2: Adds 2 C residues (CC-) to the 3' terminus of tRNA molecules instead of a complete CCA end as isoform 1 does (in vitro). CATALYTIC ACTIVITY: A tRNA precursor + 2 CTP + ATP = a tRNA with a 3' CCA end + 3 diphosphate. COFACTOR: Magnesium (Probable). SUBUNIT: Monomer, and homodimer; disulfide-linked. SUBCELLULAR LOCATION: Mitochondrion. SIMILARITY: Belongs to the tRNA nucleotidyltransferase/poly(A) polymerase family. SEQUENCE CAUTION: Sequence=AAD34042.1; Type=Frameshift; Positions=16; Sequence=AAH12537.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): TRNT1 CDC HuGE Published Literature: TRNT1
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q96Q11
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.