TRIP12 Gene Summary [Human]
The protein encoded by this gene is an E3 ubiquitin-protein ligase involved in the degradation of the p19ARF/ARF isoform of CDKN2A, a tumor suppressor. The encoded protein also plays a role in the DNA damage response by regulating the stability of USP7, which regulates tumor suppressor p53. [provided by RefSeq, Jan 2017]
Details
| Type | Protein Coding |
| Official Symbol | TRIP12 |
| Official Name | thyroid hormone receptor interactor 12 [Source:HGNC Symbol;Acc:HGNC:12306] |
| Ensembl ID | ENSG00000153827 |
| Bio databases IDs | |
| Aliases | thyroid hormone receptor interactor 12, E3 ubiquitin-protein ligase for Arf |
| Synonyms | 1110036I07RIK, 6720416K24RIK, GTL6, KIAA0045, MRD49, thyroid hormone receptor interactor 12, TRIPC, ULF |
| 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 TRIP12 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Domain in Deltex and TRIP12 homologues
- HECTc
- ubiquitin protein ligase activity
- Domain Homologous to E6-AP Carboxyl Terminus with
- WWE domain
- enzyme
- protein binding
- thyroid hormone receptor binding
Pathways
Biological processes and signaling networks where the TRIP12 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- mental retardation
- Clark-Baraitser syndrome
- hereditary disorder
- neurodevelopmental disorder
- metabolic syndrome X
- COVID-19
- hemimegalencephaly
- complex neurodevelopmental disorder
- growth failure
role in cell
- expression in
- proliferation
- migration
- activation in
- apoptosis
- growth
- accumulation in
- binding in
- ubiquitination in
- mono-ubiquitination 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.
- Cytoplasm
- detergent resistant lipid raft fraction
- cytosol
- nucleoplasm
- nuclear speckles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TRIP12 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- DNA repair
- proteasomal ubiquitin-dependent protein catabolic process
- protein polyubiquitination
- regulation of embryonic development
- negative regulation of extent of heterochromatin assembly
- response to DNA damage stimulus
- ubiquitin-dependent protein catabolic process
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear speck
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- thyroid hormone receptor binding