BAK1 Gene Summary [Human]
The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form oligomers or heterodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein localizes to mitochondria, and functions to induce apoptosis. It interacts with and accelerates the opening of the mitochondrial voltage-dependent anion channel, which leads to a loss in membrane potential and the release of cytochrome c. This protein also interacts with the tumor suppressor P53 after exposure to cell stress. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | BAK1 |
| Official Name | BCL2 antagonist/killer 1 [Source:HGNC Symbol;Acc:HGNC:949] |
| Ensembl ID | ENSG00000030110 |
| Bio databases IDs | |
| Aliases | BCL2 antagonist/killer 1 |
| Synonyms | BAK, BAK-LIKE, BCL2-antagonist/killer 1, BCL2L7, CDN1, N-BAK1 |
| 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 BAK1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Bcl-2_like
- apoptosis regulator
- heat shock protein binding
- porin
- protein domain specific binding
- protein binding
- identical protein binding
- BH3 binding domain
- binding protein
- Bcl-2 homology 1 domain
- Bcl-2 homology 2 domain
- Bcl-2 homology 3 domain
- transmembrane domain
- protein homodimerization
- ion channel binding
- chaperone binding
- protein heterodimerization
- transporter
Pathways
Biological processes and signaling networks where the BAK1 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
- epithelial cancer
- bleeding
- thrombocytosis
- non-insulin-dependent diabetes mellitus
- chronic lymphocytic leukemia
- skin basal cell carcinoma
- basal cell skin cancer
- breast cancer
- hypergammaglobulinemia
- organismal death
role in cell
- phosphorylation in
- expression in
- apoptosis
- replication in
- activation in
- proliferation
- generation in
- signaling in
- cell viability
- cell death
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 fraction
- membrane fraction
- mitochondrial fraction
- intracellular space
- intracellular membranes
- outer membranes
- cellular membrane
- Nucleus
- Endoplasmic Reticulum
- Mitochondria
- cytosol
- outer leaflet
- mitochondrial membrane
- mitochondrial outer membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BAK1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- calcium ion transport into cytosol
- epithelial cell proliferation
- activation of cysteine-type endopeptidase activity
- regulation of mitochondrial membrane potential
- apoptotic process
- thymocyte apoptotic process
- negative regulation of peptidyl-serine phosphorylation
- cellular response to unfolded protein
- activation of cysteine-type endopeptidase activity involved in apoptotic process
- regulation of cell cycle
- establishment of localization in cell
- response to gamma radiation
- DNA damage response, signal transduction resulting in induction of apoptosis
- positive regulation of endoplasmic reticulum unfolded protein response
- response to hydrogen peroxide
- response to organic cyclic compound
- regulation of mitochondrial membrane permeability
- negative regulation of gene expression
- release of cytochrome c from mitochondria
- limb morphogenesis
- response to UV-C
- organ regeneration
- vagina development
- negative regulation of cell proliferation
- reduction of endoplasmic reticulum calcium ion concentration
- apoptotic signaling pathway
- intrinsic apoptotic signaling pathway
- myeloid cell homeostasis
- extrinsic apoptotic signaling pathway in absence of ligand
- positive regulation of proteolysis
- response to xenobiotic stimulus
- response to ethanol
- cellular response to UV
- endoplasmic reticulum calcium ion homeostasis
- endocrine pancreas development
- positive regulation of protein complex assembly
- negative regulation of release of cytochrome c from mitochondria
- mitochondrial fusion
- positive regulation of release of cytochrome c from mitochondria
- response to fungus
- fibroblast apoptotic process
- B cell negative selection
- B cell homeostasis
- B cell apoptotic process
- cellular response to mechanical stimulus
- blood vessel remodeling
- post-embryonic camera-type eye morphogenesis
- positive regulation of apoptotic process
- establishment or maintenance of transmembrane electrochemical gradient
- intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress
- positive regulation of calcium ion transport into cytosol
- response to mycotoxin
Cellular Component
Where in the cell the gene product is active
- BAK complex
- Bcl-2 family protein complex
- mitochondrion
- pore complex
- cytosol
- endoplasmic reticulum
- mitochondrial outer membrane
Molecular Function
What the gene product does at the molecular level
- BH domain binding
- heat shock protein binding
- identical protein binding
- porin activity
- protein binding
- protein homodimerization activity
- metal ion binding
- protein heterodimerization activity
- chaperone binding
- ion channel binding