PUS1 Gene Summary [Human]
This gene encodes a pseudouridine synthase that converts uridine to pseudouridine once it has been incorporated into an RNA molecule. The encoded enzyme may play an essential role in tRNA function and in stabilizing the secondary and tertiary structure of many RNAs. A mutation in this gene has been linked to mitochondrial myopathy and sideroblastic anemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]
Details
| Type | Protein Coding |
| Official Symbol | PUS1 |
| Official Name | pseudouridine synthase 1 [Source:HGNC Symbol;Acc:HGNC:15508] |
| Ensembl ID | ENSG00000177192 |
| Bio databases IDs | |
| Aliases | pseudouridine synthase 1, tRNA pseudouridine(38-40) synthase, mitochondrial myopathy and sideroblastic anemia 1 |
| Synonyms | A730013B20RIK, MLASA1, MPUS1, mPus1p, pseudouridine synthase 1, Pus1p |
| 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 PUS1 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 pseudouridine(38-40) synthase
- tRNA binding
- transcription co-activator
- PseudoU_synth
- pseudouridine synthase
- tRNA pseudouridine synthase
- chromatin binding
- enzyme
- protein binding
- single-stranded RNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- posterior cortical atrophy
- Alzheimer disease
- mitochondrial myopathy and sideroblastic anemia
- organismal death
- renal clear cell adenocarcinoma
- renal clear cell cancer
- renal cancer
- weight gain
- exercise intolerance
- mitochondrial disorder
regulates
- RNA polymerase II
- reporter gene
- SRA1
- DNA promoter
- DNA endogenous promoter
role in cell
- migration
- invasion by
- cell viability
- growth
- colony formation
- size
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
- Cytoplasm
- Mitochondria
- mitochondrial matrix
- nucleoplasm
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PUS1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mitochondrial tRNA pseudouridine synthesis
- RNA splicing
- tRNA pseudouridine synthesis
- mRNA processing
Cellular Component
Where in the cell the gene product is active
- nucleus
- mitochondrial matrix
- cytoplasm
- mitochondrion
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- RNA binding
- pseudouridine synthase activity
- steroid receptor RNA activator RNA binding
- tRNA binding