THAP1 Gene Summary [Human]
The protein encoded by this gene contains a THAP domain, a conserved DNA-binding domain. This protein colocalizes with the apoptosis response protein PAWR/PAR-4 in promyelocytic leukemia (PML) nuclear bodies, and functions as a proapoptotic factor that links PAWR to PML nuclear bodies. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | THAP1 |
| Official Name | THAP domain containing 1 [Source:HGNC Symbol;Acc:HGNC:20856] |
| Ensembl ID | ENSG00000131931 |
| Bio databases IDs | |
| Aliases | THAP domain containing 1 |
| Synonyms | 4833431A01RIK, AW490810, DYT6, THAP domain containing 1, THAP domain containing, apoptosis associated protein 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 THAP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- zinc ion binding
- nucleic acid binding
- double-stranded DNA binding
- THAP domain
- protein homodimerization
- protein binding
- sequence-specific DNA binding
- identical 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
- anophthalmia
- torsion dystonia-6
- dystonia
- gait disturbance
- Multiple mitochondrial dysfunctions syndrome 9B
role in cell
- apoptosis
- expression in
- proliferation
- recruitment in
- alternative splicing in
- transactivation in
- binding in
- mitosis
- outgrowth
- excitation 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
- fibrillar center
- intracellular membrane-bounded organelle
- nucleoplasm
- nuclear bodies
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human THAP1 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
- transcription, DNA-dependent
- endothelial cell proliferation
- regulation of transcription, DNA-dependent
- regulation of mitotic cell cycle
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- PML body
- intracellular membrane-bounded organelle
- chromatin
- fibrillar center
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- identical protein binding
- zinc ion binding
- protein homodimerization activity
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity