PUS7 Gene Summary [Human]
Enables enzyme binding activity and pseudouridine synthase activity. Involved in several processes, including pseudouridine synthesis; regulation of hematopoietic stem cell differentiation; and regulation of mesoderm development. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | PUS7 |
| Official Name | pseudouridine synthase 7 [Source:HGNC Symbol;Acc:HGNC:26033] |
| Ensembl ID | ENSG00000091127 |
| Bio databases IDs | |
| Aliases | pseudouridine synthase 7 |
| Synonyms | C330017I15Rik, IDDABS, pseudouridine synthase 7, pseudouridylate synthase 7, RGD1307054 |
| 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 PUS7 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- PseudoU_synth
- enzyme binding
- pseudouridine synthase
- enzyme
- tRNA pseudouridine synthase D (TruD)
- tRNA pseudouridine synthase, TruD family
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- squamous cell lung cancer
- colorectal cancer
- hereditary disorder
- intellectual developmental disorder with abnormal behavior, microcephaly and short stature
- lung adenocarcinoma
- lung adenocarcinoma formation
- systemic lupus erythematosus
- organismal death
- pervasive developmental disorder
- lung squamous cell carcinoma
role in cell
- proliferation
- differentiation
- migration
- invasion by
- translation in
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
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PUS7 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of mesoderm development
- RNA splicing
- pseudouridine synthesis
- tRNA pseudouridine synthesis
- mRNA processing
- negative regulation of translation
Cellular Component
Where in the cell the gene product is active
- nucleus
Molecular Function
What the gene product does at the molecular level
- RNA binding
- pseudouridine synthase activity
- enzyme binding