ID:BAX_HUMAN DESCRIPTION: RecName: Full=Apoptosis regulator BAX; AltName: Full=Bcl-2-like protein 4; Short=Bcl2-L-4; FUNCTION: Accelerates programmed cell death by binding to, and antagonizing the apoptosis repressor BCL2 or its adenovirus homolog E1B 19k protein. 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. SUBUNIT: Homodimer. Forms higher oligomers under stress conditions. Interacts with BCL2L11. Interaction with BCL2L11 promotes BAX oligomerization and association with mitochondrial membranes, with subsequent release of cytochrome c. Forms heterodimers with BCL2, E1B 19K protein, BCL2L1 isoform Bcl-X(L), BCL2L2, MCL1 and A1. Interacts with SH3GLB1 and HN. Interacts with SFN and YWHAZ; the interaction occurs in the cytoplasm. Under stress conditions, JNK-mediated phosphorylation of SFN and YWHAZ, releases BAX to mitochondria. Isoform Sigma interacts with BCL2A1 and BCL2L1 isoform Bcl-X(L). Interacts with RNF144B, which regulates the ubiquitin-dependent stability of BAX. Interacts with CLU under stress conditions that cause a conformation change leading to BAX oligomerization and association with mitochondria. Does not interact with CLU in unstressed cells. Interacts with FAIM2/LFG2. Interacts with human cytomegalovirus/HHV-5 protein vMIA/UL37. INTERACTION: Self; NbExp=17; IntAct=EBI-516580, EBI-516580; Q16611:BAK1; NbExp=3; IntAct=EBI-516580, EBI-519866; P10415:BCL2; NbExp=8; IntAct=EBI-516580, EBI-77694; Q07817-1:BCL2L1; NbExp=13; IntAct=EBI-516580, EBI-287195; O43521:BCL2L11; NbExp=11; IntAct=EBI-516580, EBI-526406; Q92843:BCL2L2; NbExp=3; IntAct=EBI-516580, EBI-707714; P55957:BID; NbExp=14; IntAct=EBI-516580, EBI-519672; P70444:Bid (xeno); NbExp=2; IntAct=EBI-516580, EBI-2128640; O75460:ERN1; NbExp=2; IntAct=EBI-516580, EBI-371750; Q07820:MCL1; NbExp=3; IntAct=EBI-516580, EBI-1003422; P97287:Mcl1 (xeno); NbExp=2; IntAct=EBI-516580, EBI-707292; Q9ULZ3:PYCARD; NbExp=7; IntAct=EBI-516580, EBI-751215; Q9Y371-1:SH3GLB1; NbExp=2; IntAct=EBI-516580, EBI-5291808; P24391:tom-40 (xeno); NbExp=2; IntAct=EBI-516580, EBI-1791540; P12956:XRCC6; NbExp=2; IntAct=EBI-516580, EBI-353208; SUBCELLULAR LOCATION: Isoform Alpha: Mitochondrion membrane; Single-pass membrane protein. Cytoplasm. Note=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. SUBCELLULAR LOCATION: Isoform Beta: Cytoplasm. SUBCELLULAR LOCATION: Isoform Gamma: Cytoplasm. SUBCELLULAR LOCATION: Isoform Delta: Cytoplasm (Potential). TISSUE SPECIFICITY: Expressed in a wide variety of tissues. Isoform Psi is found in glial tumors. Isoform Alpha is expressed in spleen, breast, ovary, testis, colon and brain, and at low levels in skin and lung. Isoform Sigma is expressed in spleen, breast, ovary, testis, lung, colon, brain and at low levels in skin. Isoform Alpha and isoform Sigma are expressed in pro- myelocytic leukemia, histiocytic lymphoma, Burkitt's lymphoma, T- cell lymphoma, lymphoblastic leukemia, breast adenocarcinoma, ovary adenocarcinoma, prostate carcinoma, prostate adenocarcinoma, lung carcinoma, epidermoid carcinoma, small cell lung carcinoma and colon adenocarcinoma cell lines. DOMAIN: Intact BH3 motif is required by BIK, BID, BAK, BAD and BAX for their pro-apoptotic activity and for their interaction with anti-apoptotic members of the Bcl-2 family (By similarity). SIMILARITY: Belongs to the Bcl-2 family. WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/bax/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q07812
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0001541 ovarian follicle development GO:0001764 neuron migration GO:0001776 leukocyte homeostasis GO:0001777 T cell homeostatic proliferation GO:0001782 B cell homeostasis GO:0001783 B cell apoptotic process GO:0001822 kidney development GO:0001836 release of cytochrome c from mitochondria GO:0001844 protein insertion into mitochondrial membrane involved in apoptotic signaling pathway GO:0001974 blood vessel remodeling GO:0002262 myeloid cell homeostasis GO:0002352 B cell negative selection GO:0002358 B cell homeostatic proliferation GO:0002904 positive regulation of B cell apoptotic process GO:0006367 transcription initiation from RNA polymerase II promoter GO:0006687 glycosphingolipid metabolic process GO:0006808 regulation of nitrogen utilization GO:0006915 apoptotic process GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006974 cellular response to DNA damage stimulus GO:0006977 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006987 activation of signaling protein activity involved in unfolded protein response GO:0007281 germ cell development GO:0007283 spermatogenesis GO:0007399 nervous system development GO:0007548 sex differentiation GO:0008053 mitochondrial fusion GO:0008283 cell proliferation GO:0008285 negative regulation of cell proliferation GO:0008584 male gonad development GO:0008625 extrinsic apoptotic signaling pathway via death domain receptors GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008635 activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c GO:0008637 apoptotic mitochondrial changes GO:0009566 fertilization GO:0009611 response to wounding GO:0009636 response to toxic substance GO:0009651 response to salt stress GO:0009791 post-embryonic development GO:0010212 response to ionizing radiation GO:0010248 establishment or maintenance of transmembrane electrochemical gradient GO:0010332 response to gamma radiation GO:0010524 positive regulation of calcium ion transport into cytosol GO:0016032 viral process GO:0021854 hypothalamus development GO:0021987 cerebral cortex development GO:0032091 negative regulation of protein binding GO:0032461 positive regulation of protein oligomerization GO:0032469 endoplasmic reticulum calcium ion homeostasis GO:0032471 negative regulation of endoplasmic reticulum calcium ion concentration GO:0032976 release of matrix enzymes from mitochondria GO:0033137 negative regulation of peptidyl-serine phosphorylation GO:0033599 regulation of mammary gland epithelial cell proliferation GO:0034644 cellular response to UV GO:0035108 limb morphogenesis GO:0035234 ectopic germ cell programmed cell death GO:0042475 odontogenesis of dentin-containing tooth GO:0042981 regulation of apoptotic process GO:0043065 positive regulation of apoptotic process GO:0043281 regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043496 regulation of protein homodimerization activity GO:0043497 regulation of protein heterodimerization activity GO:0043523 regulation of neuron apoptotic process GO:0043524 negative regulation of neuron apoptotic process GO:0043525 positive regulation of neuron apoptotic process GO:0043653 mitochondrial fragmentation involved in apoptotic process GO:0045136 development of secondary sexual characteristics GO:0046666 retinal cell programmed cell death GO:0048087 positive regulation of developmental pigmentation GO:0048147 negative regulation of fibroblast proliferation GO:0048515 spermatid differentiation GO:0048597 post-embryonic camera-type eye morphogenesis GO:0048678 response to axon injury GO:0048872 homeostasis of number of cells GO:0048873 homeostasis of number of cells within a tissue GO:0051259 protein oligomerization GO:0051260 protein homooligomerization GO:0051281 positive regulation of release of sequestered calcium ion into cytosol GO:0051402 neuron apoptotic process GO:0051726 regulation of cell cycle GO:0051881 regulation of mitochondrial membrane potential GO:0060011 Sertoli cell proliferation GO:0060041 retina development in camera-type eye GO:0060058 positive regulation of apoptotic process involved in mammary gland involution GO:0060068 vagina development GO:0070059 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress GO:0070242 thymocyte apoptotic process GO:0070584 mitochondrion morphogenesis GO:0071310 cellular response to organic substance GO:0072332 intrinsic apoptotic signaling pathway by p53 class mediator GO:0090200 positive regulation of release of cytochrome c from mitochondria GO:0097190 apoptotic signaling pathway GO:0097191 extrinsic apoptotic signaling pathway GO:0097192 extrinsic apoptotic signaling pathway in absence of ligand GO:0097193 intrinsic apoptotic signaling pathway GO:0097296 activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:1900103 positive regulation of endoplasmic reticulum unfolded protein response GO:1901030 positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway GO:1902108 regulation of mitochondrial membrane permeability involved in apoptotic process GO:1902110 positive regulation of mitochondrial membrane permeability involved in apoptotic process GO:1902262 apoptotic process involved in blood vessel morphogenesis GO:1902263 apoptotic process involved in embryonic digit morphogenesis GO:1902445 regulation of mitochondrial membrane permeability involved in programmed necrotic cell death GO:1902512 positive regulation of apoptotic DNA fragmentation GO:1903896 positive regulation of IRE1-mediated unfolded protein response GO:1990117 B cell receptor apoptotic signaling pathway GO:2001234 negative regulation of apoptotic signaling pathway GO:2001241 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001244 positive regulation of intrinsic apoptotic signaling pathway
Protein Q07812 (Reactome details) participates in the following event(s):
R-HSA-114264 Translocation of activated BAX to the mitochondria R-HSA-139917 tBID activates BAX protein R-HSA-168849 tBID binds to inactive BAX protein R-HSA-6803892 SFN dimer binds BAX R-HSA-114275 Oligomerization of BAX at the mitochondrial membrane R-HSA-114294 Activation, translocation and oligomerization of BAX R-HSA-6804114 TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest R-HSA-6803204 TP53 Regulates Transcription of Genes Involved in Cytochrome C Release R-HSA-8878166 Transcriptional regulation by RUNX2 R-HSA-109606 Intrinsic Pathway for Apoptosis R-HSA-6791312 TP53 Regulates Transcription of Cell Cycle Genes R-HSA-5633008 TP53 Regulates Transcription of Cell Death Genes R-HSA-212436 Generic Transcription Pathway R-HSA-109581 Apoptosis R-HSA-3700989 Transcriptional Regulation by TP53 R-HSA-73857 RNA Polymerase II Transcription R-HSA-5357801 Programmed Cell Death R-HSA-74160 Gene expression (Transcription)
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Common Gene Haplotype Alleles 
