IBTK Gene Summary [Human]
Bruton tyrosine kinase (BTK) is a protein tyrosine kinase that is expressed in B cells, macrophages, and neutrophils. The protein encoded by this gene binds to BTK and downregulates BTK's kinase activity. In addition, the encoded protein disrupts BTK-mediated calcium mobilization and negatively regulates the activation of nuclear factor-kappa-B-driven transcription. This gene has a pseudogene on chromosome 18. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
Details
| Type | Protein Coding |
| Official Symbol | IBTK |
| Official Name | inhibitor of Bruton tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:17853] |
| Ensembl ID | ENSG00000005700 |
| Bio databases IDs | |
| Aliases | inhibitor of Bruton tyrosine kinase |
| Synonyms | 5430411K16RIK, AA409502, BTBD26, BTKI, inhibitor of Bruton agammaglobulinaemia tyrosine kinase, inhibitor of Bruton agammaglobulinemia tyrosine kinase, inhibitor of Bruton tyrosine kinase, mKIAA1417 |
| 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 IBTK often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Regulator of chromosome condensation (RCC1) repeat
- Ankyrin repeats (many copies)
- protein kinase binding
- Broad-Complex, Tramtrack and Bric a brac
- protein tyrosine kinase inhibitor activity
- BTB_POZ
- Ankyrin repeats (3 copies)
- BTB/POZ domain
- BACK (BTB and C-terminal Kelch) domain
- Ankyrin repeat
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- major depression
role in cell
- expression in
- activation in
- cell viability
- phosphorylation in
- accumulation in
- degradation in
- flux in
- mobilization in
- conversion in
- polyubiquitination 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
- Endoplasmic Reticulum
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human IBTK gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of protein phosphorylation
- release of sequestered calcium ion into cytosol
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein kinase binding
- protein tyrosine kinase inhibitor activity