BBC3 Gene Summary [Human]
This gene encodes a member of the BCL-2 family of proteins. This family member belongs to the BH3-only pro-apoptotic subclass. The protein cooperates with direct activator proteins to induce mitochondrial outer membrane permeabilization and apoptosis. It can bind to anti-apoptotic Bcl-2 family members to induce mitochondrial dysfunction and caspase activation. Because of its pro-apoptotic role, this gene is a potential drug target for cancer therapy and for tissue injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]
Details
| Type | Retained Intron |
| Official Symbol | BBC3 |
| Official Name | BCL2 binding component 3 [Source:HGNC Symbol;Acc:HGNC:17868] |
| Ensembl ID | ENSG00000105327 |
| Bio databases IDs | |
| Aliases | BCL2 binding component 3, p53-upregulated modulator of apoptosis |
| Synonyms | BCL2 binding component 3, JFY-1, PUMA, PUMA/JFY1 |
| 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 BBC3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ATPase binding
- Bcl-2-binding component 3, p53 upregulated modulator of apoptosis
- Bcl-2 homology 3 domain
- protein binding
Pathways
Biological processes and signaling networks where the BBC3 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
- acute myeloid leukemia
- Burkitt lymphoma
- sepsis
- lymphomagenesis
- cancer
- hematologic cancer
- lymphoid cancer
- hematological neoplasia
- lymphatic neoplasia
- neoplasia
role in cell
- expression in
- quantity
- growth
- damage
- damage in
- proliferation
- production in
- number
- cell death
- loss
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
- mitochondrial envelope
- lysosome
- Mitochondria
- cytosol
- mitochondrial outer membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BBC3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of growth
- determination of adult lifespan
- positive regulation of release of cytochrome c from mitochondria
- positive regulation of fibroblast apoptotic process
- DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis
- intrinsic apoptotic signaling pathway
- fibroblast apoptotic process
- response to DNA damage stimulus
- execution phase of apoptosis
- positive regulation of neuron apoptotic process
- apoptotic process
- T cell apoptotic process
- release of cytochrome c from mitochondria
- cellular response to ionizing radiation
- positive regulation of thymocyte apoptotic process
- activation of cysteine-type endopeptidase activity involved in apoptotic process
- intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress
- cellular response to hypoxia
- positive regulation of cysteine-type endopeptidase activity
- positive regulation of intrinsic apoptotic signaling pathway
- response to endoplasmic reticulum stress
- positive regulation of protein complex assembly
Cellular Component
Where in the cell the gene product is active
- mitochondrion
- cytosol
- mitochondrial outer membrane
- lysosome
Molecular Function
What the gene product does at the molecular level
- protein binding
- ATPase binding