TRNT1 Gene Summary [Human]
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]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | TRNT1 |
| Official Name | tRNA nucleotidyl transferase 1 [Source:HGNC Symbol;Acc:HGNC:17341] |
| Ensembl ID | ENSG00000072756 |
| Bio databases IDs | |
| Aliases | tRNA nucleotidyl transferase 1, ATP(CTP):tRNA nucleotidyltransferase, CCA-adding enzyme |
| Synonyms | 2410043H24Rik, 2610044E04Rik, 9830143O18RIK, C76540, CCA1, CGI-47, MtCCA, mt-Trat, RPEM, SIFD, tRNA nucleotidyl transferase 1, tRNA nucleotidyl transferase, CCA-adding, 1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TRNT1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Poly A polymerase head domain
- tRNA binding
- Nucleotidyltransferase (NT) domain of DNA polymerase beta and similar proteins
- Probable RNA and SrmB- binding site of polymerase A
- nucleotidyltransferase
- tRNA adenylyltransferase
- ATP binding
- protein homodimerization
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
- retinal dystrophy
- retinitis pigmentosa and erythrocytic microcytosis
- hereditary disorder
role in cell
- transformation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Nucleus
- Mitochondria
- cytosol
- mitochondrial matrix
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TRNT1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- rescue of stalled ribosome
- tRNA 3'-end processing
- tRNA 3'-terminal CCA addition
Cellular Component
Where in the cell the gene product is active
- nucleus
- mitochondrial matrix
- mitochondrion
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- tRNA adenylyltransferase activity
- ATP binding
- RNA polymerase activity
- protein homodimerization activity
- metal ion binding
- tRNA binding