BAK1 Gene: BCL2 Antagonist/Killer 1 - Apoptosis Regulator
Essential pro-apoptotic BCL-2 family member involved in mitochondrial outer membrane permeabilization and tumor suppression.
Gene Information Card
| Symbol | BAK1 |
|---|---|
| Full Name | BCL2 antagonist/killer 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.31 |
| NCBI Gene ID | 578 ncbi.nlm.nih.gov/gene/578 |
| Ensembl ID | ENSG00000069399 |
| UniProt ID | Q16611 |
| OMIM ID | 600516 |
| HGNC ID | 949 |
| Aliases | BAK, BCL2L7, CDN1, BAK-LIKE |
Description
BAK1 (BCL2 antagonist/killer 1) is a pro-apoptotic member of the BCL-2 protein family. It plays a critical role in the intrinsic apoptosis pathway by mediating mitochondrial outer membrane permeabilization (MOMP), leading to cytochrome c release and caspase activation. BAK1 is widely expressed and functions as a tumor suppressor, with dysregulation implicated in various cancers and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Loss of BAK1 expression or inactivating mutations impair apoptosis, promoting tumorigenesis. | COSMIC; PMID: 11101842 |
| Lung cancer | Reduced BAK1 expression correlates with poor prognosis; mutations may contribute to resistance to apoptosis. | COSMIC; PMID: 15696205 |
| Chronic lymphocytic leukemia (CLL) | BAK1 dysregulation may affect apoptosis of malignant B cells, influencing disease progression. | ClinVar; PMID: 20516198 |
| Neurodegenerative diseases (e.g., Alzheimer's) | Altered BAK1 expression may contribute to neuronal apoptosis. | PMID: 15159417 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 31.7 | High |
| Spleen | 28.5 | High |
| Bone marrow | 25.3 | High |
| Liver | 18.2 | Medium |
| Brain | 12.4 | Medium |
| Muscle | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 30.2 | High expression |
| HeLa (cervical cancer) | 22.8 | Moderate expression |
| A549 (lung cancer) | 18.5 | Moderate expression |
| MCF7 (breast cancer) | 15.3 | Moderate expression |
| HepG2 (liver cancer) | 12.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.233G>A (p.Arg78His) | Missense | 0.5% (COSMIC) | May impair BH3 domain function, reducing pro-apoptotic activity. |
| c.295C>T (p.Arg99Trp) | Missense | 0.3% (COSMIC) | Alters protein stability, potentially affecting apoptosis. |
| c.1-? (promoter methylation) | Epigenetic | Variable | Silences BAK1 expression, contributing to tumorigenesis. |
| c.IVS2+1G>A | Splice site | Rare | Disrupts splicing, leading to loss of functional protein. |
Mutation functional classification
Loss of Function (LOF)
Inactivating mutations or epigenetic silencing reduce BAK1 pro-apoptotic function, promoting cell survival and tumorigenesis.
Gain of Function (GOF)
No clear gain-of-function mutations reported; BAK1 is primarily a tumor suppressor.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by forming inactive heterodimers with wild-type BAK1 or other BCL-2 family members.
View complete mutation data：
Gene Ontology (GO)
| • protein homodimerization activity | • protein heterodimerization activity |
| • BH3 domain binding | • mitochondrial outer membrane permeabilization |
| • apoptotic process | • release of cytochrome c from mitochondria |
| • regulation of mitochondrial membrane potential | • intrinsic apoptotic signaling pathway |
Pathways
• Intrinsic Apoptosis Pathway
• BCL-2 Family-Mediated Regulation of Apoptosis
• Mitochondrial Outer Membrane Permeabilization (MOMP)
• p53-Dependent Apoptosis
Protein Summary
BAK1 is a 211-amino acid protein (UniProt Q16611) localized to the mitochondrial outer membrane. It contains BH1, BH2, and BH3 domains, which are essential for its pro-apoptotic function. Upon apoptotic stimuli, BAK1 undergoes conformational changes, oligomerizes, and forms pores in the mitochondrial membrane, releasing cytochrome c and other apoptotic factors. BAK1 is regulated by anti-apoptotic BCL-2 family members (e.g., BCL2, MCL1) and is a key effector of the intrinsic apoptosis pathway.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BAK1 Knockout HEK293 Cell Line | EDJ-KQ50149 | Human | 578 | Details Get a Quote |
| BAK1 Knockout HeLa Cell Line | EDJ-KQ52708 | Human | 578 | Details Get a Quote |
| BAK1 Knockout A-549 Cell Line | EDJ-KQ61178 | Human | 578 | Details Get a Quote |
| BAK1 Knockout HCT 116 Cell Line | EDJ-KQ69667 | Human | 578 | Details Get a Quote |
| BAK1 Knockout Jurkat Cell Line | EDJ-KQ78077 | Human | 578 | Details Get a Quote |
| Bax and Bak1 Knockout ExpiCHO Cell Line | EDC90319 | Chinese hamster | 100689032 and 100689368 | Details Get a Quote |
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