TSEN54 Gene Summary [Human]
This gene encodes a subunit of the tRNA splicing endonuclease complex, which catalyzes the removal of introns from precursor tRNAs. The complex is also implicated in pre-mRNA 3-prime end processing. Mutations in this gene result in pontocerebellar hypoplasia type 2.[provided by RefSeq, Oct 2009]
Details
| Type | Retained Intron |
| Official Symbol | TSEN54 |
| Official Name | tRNA splicing endonuclease subunit 54 [Source:HGNC Symbol;Acc:HGNC:27561] |
| Ensembl ID | ENSG00000182173 |
| Bio databases IDs | |
| Aliases | tRNA splicing endonuclease subunit 54 |
| Synonyms | 0610034P02Rik, LOC688263, PCH2A, PCH4, PCH5, SEN54, SEN54L, tRNA splicing endonuclease subunit 54 |
| 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 TSEN54 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- tRNA-intron endonuclease
- tRNA-splicing endonuclease subunit sen54 N-term
- 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
- epithelial cancer
- liver cancer
- cerebellar hypoplasia or atrophy, epilepsy, and global developmental delay
- non-syndromic congenital pontocerebellar hypoplasia
- pontocerebellar hypoplasia, type 2a
- hereditary disorder
- organismal death
- pontocerebellar hypoplasia type 5
- pontocerebellar hypoplasia type 4
- hepatocellular carcinoma
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nucleoplasm
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TSEN54 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- tRNA splicing, via endonucleolytic cleavage and ligation
- mRNA processing
- tRNA-type intron splice site recognition and cleavage
Cellular Component
Where in the cell the gene product is active
- tRNA-intron endonuclease complex
- nucleolus
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding