TRPS1 Gene Summary [Human]
This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | TRPS1 |
| Official Name | transcriptional repressor GATA binding 1 [Source:HGNC Symbol;Acc:HGNC:12340] |
| Ensembl ID | ENSG00000104447 |
| Bio databases IDs | |
| Aliases | transcriptional repressor GATA binding 1 |
| Synonyms | AI115454, D15Ertd586e, GC79, LGCR, transcriptional repressor GATA binding 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 TRPS1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- nucleic acid binding
- protein domain specific binding
- protein binding
- sequence-specific DNA binding
- IKAROS-like zinc finger domain
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- zinc ion binding
- double-stranded DNA binding
- zinc finger binding to DNA consensus sequence [AT]GATA[AG]
- zinc finger domain
- transcription factor activity
- ZnF_GATA
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
- Parkinson disease
- major depression
- neoplasia
- diabetes mellitus
- metastasis
- non-insulin-dependent diabetes mellitus
- insomnia
- squamous-cell carcinoma
- hereditary disorder
role in cell
- expression in
- proliferation
- apoptosis
- binding in
- condensation
- maturation
- differentiation
- migration
- abnormal morphology
- invasion by
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
- nuclear bodies
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TRPS1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- skeletal system development
- regulation of chondrocyte differentiation
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- macromolecular complex
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein domain specific binding
- sequence-specific DNA binding transcription factor activity
- zinc ion binding
- protein binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription