BAX

The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein forms a heterodimer with BCL2, and functions as an apoptotic activator. This protein is reported to interact with, and increase the opening of, the mitochondrial voltage-dependent anion channel (VDAC), which leads to the loss in membrane potential and the release of cytochrome c. The expression of this gene is regulated by the tumor suppressor P53 and has been shown to be involved in P53-mediated apoptosis. Multiple alternatively spliced transcript variants, which encode different isoforms, have been reported for this gene.

BCL2 Associated X, Apoptosis Regulator

BCL2 Associated X, Apoptosis Regulator; BCL2 Associated X Protein; Bcl-2-Like Protein 4; Bcl2-L-4; BCL2L4; BCL2-Associated X Protein Omega;

Plays a role in the mitochondrial apoptotic process. Under normal conditions, BAX is largely cytosolic via constant retrotranslocation from mitochondria to the cytosol mediated by BCL2L1/Bcl-xL, which avoids accumulation of toxic BAX levels at the mitochondrial outer membrane (MOM) (PubMed:21458670).
Under stress conditions, undergoes a conformation change that causes translocation to the mitochondrion membrane, leading to the release of cytochrome c that then triggers apoptosis. Promotes activation of CASP3, and thereby apoptosis.

Activation of cysteine-type endopeptidase activity involved in apoptotic process Source: HGNC-UCL
Activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c Source: HGNC-UCL
Activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway Source: Ensembl
Apoptotic mitochondrial changes Source: HGNC-UCL
Apoptotic process Source: DIBU
Apoptotic process involved in blood vessel morphogenesis Source: Ensembl
Apoptotic process involved in embryonic digit morphogenesis Source: Ensembl
Apoptotic signaling pathway Source: HGNC-UCL
B cell apoptotic process Source: HGNC-UCL
B cell homeostasis Source: Ensembl
B cell homeostatic proliferation Source: Ensembl
B cell negative selection Source: Ensembl
B cell receptor apoptotic signaling pathway Source: BHF-UCL
Blood vessel remodeling Source: Ensembl
Cellular response to unfolded protein Source: ParkinsonsUK-UCL
Cellular response to UV Source: Ensembl
Cellular response to virus Source: UniProtKB
Cerebral cortex development Source: Ensembl
Development of secondary sexual characteristics Source: Ensembl
DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest Source: Reactome
Ectopic germ cell programmed cell death Source: Ensembl
Endoplasmic reticulum calcium ion homeostasis Source: UniProtKB
Establishment or maintenance of transmembrane electrochemical gradient Source: HGNC-UCL
Extrinsic apoptotic signaling pathway Source: BHF-UCL
Extrinsic apoptotic signaling pathway in absence of ligand Source: GO_Central
Extrinsic apoptotic signaling pathway via death domain receptors Source: BHF-UCL
Fertilization Source: Ensembl
Germ cell development Source: Ensembl
Glycosphingolipid metabolic process Source: Ensembl
Homeostasis of number of cells within a tissue Source: Ensembl
Hypothalamus development Source: Ensembl
Intrinsic apoptotic signaling pathway Source: HGNC-UCL
Intrinsic apoptotic signaling pathway by p53 class mediator Source: Ensembl
Intrinsic apoptotic signaling pathway in response to DNA damage Source: GO_Central
Intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress Source: UniProtKB
Kidney development Source: Ensembl
Mitochondrial fragmentation involved in apoptotic process Source: HGNC-UCL
Mitochondrial fusion Source: HGNC-UCL
Mitochondrion morphogenesis Source: Ensembl
Myeloid cell homeostasis Source: Ensembl
Negative regulation of apoptotic signaling pathway Source: Ensembl
Negative regulation of endoplasmic reticulum calcium ion concentration Source: Ensembl
Negative regulation of fibroblast proliferation Source: Ensembl
Negative regulation of mitochondrial membrane potential Source: UniProtKB
Negative regulation of neuron apoptotic process Source: Ensembl
Negative regulation of peptidyl-serine phosphorylation Source: Ensembl
Negative regulation of protein binding Source: UniProtKB
Neuron apoptotic process Source: Ensembl
Neuron migration Source: Ensembl
Odontogenesis of dentin-containing tooth Source: Ensembl
Ovarian follicle development Source: Ensembl
Positive regulation of apoptotic DNA fragmentation Source: BHF-UCL
Positive regulation of apoptotic process Source: UniProtKB
Positive regulation of apoptotic process involved in mammary gland involution Source: Ensembl
Positive regulation of B cell apoptotic process Source: Ensembl
Positive regulation of developmental pigmentation Source: Ensembl
Positive regulation of endoplasmic reticulum unfolded protein response Source: UniProtKB
Positive regulation of intrinsic apoptotic signaling pathway Source: UniProtKB
Positive regulation of IRE1-mediated unfolded protein response Source: ParkinsonsUK-UCL
Positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway Source: Reactome
Positive regulation of neuron apoptotic process Source: HGNC-UCL
Positive regulation of protein-containing complex assembly Source: UniProtKB
Positive regulation of release of cytochrome c from mitochondria Source: UniProtKB
Positive regulation of release of sequestered calcium ion into cytosol Source: Ensembl
Post-embryonic camera-type eye morphogenesis Source: Ensembl
Protein insertion into mitochondrial membrane involved in apoptotic signaling pathway Source: Reactome
Regulation of apoptotic process Source: UniProtKB
Regulation of mammary gland epithelial cell proliferation Source: Ensembl
Regulation of mitochondrial membrane permeability involved in programmed necrotic cell death Source: Ensembl
Regulation of mitochondrial membrane potential Source: HGNC-UCL
Regulation of nitrogen utilization Source: Ensembl
Regulation of transcription initiation from RNA polymerase II promoter Source: Reactome
Release of cytochrome c from mitochondria Source: UniProtKB
Release of matrix enzymes from mitochondria Source: HGNC-UCL
Response to axon injury Source: Ensembl
Response to gamma radiation Source: Ensembl
Response to salt stress Source: Ensembl
Response to toxic substance Source: HGNC-UCL
Retina development in camera-type eye Source: Ensembl
Retinal cell programmed cell death Source: Ensembl
Sertoli cell proliferation Source: Ensembl
Spermatid differentiation Source: Ensembl
T cell homeostatic proliferation Source: Ensembl
Thymocyte apoptotic process Source: Ensembl
Vagina development Source: Ensembl
Viral process Source: UniProtKB-KW

Isoform Alpha: Cytoplasm; Mitochondrion outer membrane. Colocalizes with 14-3-3 proteins in the cytoplasm. Under stress conditions, undergoes a conformation change that causes release from JNK-phosphorylated 14-3-3 proteins and translocation to the mitochondrion membrane. Upon Sendai virus infection, recruited to the mitochondrion through interaction with IRF3 (PubMed:25609812).
Isoform Beta: Cytoplasm
Isoform Gamma: Cytoplasm
Isoform Delta: Cytoplasm

Helical: 172-192 aa