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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Human disease related genes Transporters
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
19
Cytoband
q13.33
Chromosome location (bp)
48954815 - 48961798
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Plays a role in the mitochondrial apoptotic process 1,2,3,4,5,6,7,8,9,10,11. 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) 12. 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 13,14,15,16,17,18,19,20,21,22. Promotes activation of CASP3, and thereby apoptosis 23,24,25,26,27,28,29,30,31,32....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Apoptosis, Host-virus interaction
Gene summary (Entrez)i
Useful information about the gene from Entrez
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. The association and the ratio of BAX to BCL2 also determines survival or death of a cell following an apoptotic stimulus. 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. [provided by RefSeq, Dec 2019]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Transporters Transporter channels and pores SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001783[B cell apoptotic process] GO:0001836[release of cytochrome c from mitochondria] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005635[nuclear envelope] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005741[mitochondrial outer membrane] GO:0005757[mitochondrial permeability transition pore complex] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005829[cytosol] GO:0006915[apoptotic process] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0008053[mitochondrial fusion] GO:0008289[lipid binding] 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:0009636[response to toxic substance] GO:0010248[establishment or maintenance of transmembrane electrochemical gradient] GO:0010917[negative regulation of mitochondrial membrane potential] GO:0015267[channel activity] GO:0016020[membrane] GO:0031334[positive regulation of protein-containing complex assembly] GO:0032091[negative regulation of protein binding] GO:0032469[endoplasmic reticulum calcium ion homeostasis] GO:0032976[release of matrix enzymes from mitochondria] GO:0034620[cellular response to unfolded protein] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0042981[regulation of apoptotic process] GO:0043065[positive regulation of apoptotic process] GO:0043525[positive regulation of neuron apoptotic process] GO:0043653[mitochondrial fragmentation involved in apoptotic process] GO:0046930[pore complex] GO:0046982[protein heterodimerization activity] GO:0051434[BH3 domain binding] GO:0051881[regulation of mitochondrial membrane potential] GO:0070059[intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress] GO:0070062[extracellular exosome] GO:0071944[cell periphery] GO:0090200[positive regulation of release of cytochrome c from mitochondria] GO:0097136[Bcl-2 family protein complex] GO:0097144[BAX complex] GO:0097145[BAK complex] 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:0097435[supramolecular fiber organization] GO:0098586[cellular response to virus] GO:1900103[positive regulation of endoplasmic reticulum unfolded protein response] 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:2001233[regulation of apoptotic signaling pathway] GO:2001244[positive regulation of intrinsic apoptotic signaling pathway]
Transporters Transporter channels and pores MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins TMHMM predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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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:0005515[protein binding] GO:0005634[nucleus] GO:0005635[nuclear envelope] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005741[mitochondrial outer membrane] GO:0005757[mitochondrial permeability transition pore complex] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005829[cytosol] 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:0007281[germ cell development] GO:0007283[spermatogenesis] GO:0007399[nervous system development] GO:0007548[sex differentiation] GO:0008053[mitochondrial fusion] GO:0008283[cell population proliferation] GO:0008285[negative regulation of cell population proliferation] GO:0008289[lipid binding] 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:0010917[negative regulation of mitochondrial membrane potential] GO:0015267[channel activity] GO:0016020[membrane] GO:0018105[peptidyl-serine phosphorylation] GO:0021854[hypothalamus development] GO:0021987[cerebral cortex development] GO:0030544[Hsp70 protein binding] GO:0031334[positive regulation of protein-containing complex assembly] GO:0031966[mitochondrial membrane] GO:0032091[negative regulation of protein binding] 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:0034620[cellular response to unfolded protein] 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:0042802[identical protein binding] GO:0042803[protein homodimerization activity] 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: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:0046930[pore complex] GO:0046982[protein heterodimerization activity] 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:0050673[epithelial cell proliferation] GO:0051087[chaperone binding] GO:0051094[positive regulation of developmental process] GO:0051209[release of sequestered calcium ion into cytosol] GO:0051281[positive regulation of release of sequestered calcium ion into cytosol] GO:0051402[neuron apoptotic process] GO:0051434[BH3 domain binding] GO:0051649[establishment of localization in cell] 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:0060057[apoptotic process involved in mammary gland involution] GO:0060058[positive regulation of apoptotic process involved in mammary gland involution] GO:0060068[vagina development] GO:0060402[calcium ion transport into cytosol] GO:0070059[intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress] GO:0070062[extracellular exosome] GO:0070242[thymocyte apoptotic process] GO:0070584[mitochondrion morphogenesis] GO:0071310[cellular response to organic substance] GO:0071944[cell periphery] GO:0072332[intrinsic apoptotic signaling pathway by p53 class mediator] GO:0090200[positive regulation of release of cytochrome c from mitochondria] GO:0097049[motor neuron apoptotic process] GO:0097136[Bcl-2 family protein complex] GO:0097144[BAX complex] GO:0097145[BAK complex] 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:0097435[supramolecular fiber organization] GO:0098586[cellular response to virus] GO:1900103[positive regulation of endoplasmic reticulum unfolded protein response] 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:1904019[epithelial cell apoptotic process] GO:1904037[positive regulation of epithelial cell apoptotic process] GO:1990117[B cell receptor apoptotic signaling pathway] GO:2000243[positive regulation of reproductive process] GO:2000673[positive regulation of motor neuron apoptotic process] GO:2001233[regulation of apoptotic signaling pathway] GO:2001234[negative regulation of apoptotic signaling pathway] GO:2001244[positive regulation of intrinsic apoptotic signaling pathway]
Transporters Transporter channels and pores MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins TMHMM predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001783[B cell apoptotic process] GO:0001836[release of cytochrome c from mitochondria] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005635[nuclear envelope] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005741[mitochondrial outer membrane] GO:0005757[mitochondrial permeability transition pore complex] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005829[cytosol] GO:0006915[apoptotic process] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0008053[mitochondrial fusion] GO:0008289[lipid binding] 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:0009636[response to toxic substance] GO:0010248[establishment or maintenance of transmembrane electrochemical gradient] GO:0010917[negative regulation of mitochondrial membrane potential] GO:0015267[channel activity] GO:0016020[membrane] GO:0031334[positive regulation of protein-containing complex assembly] GO:0032091[negative regulation of protein binding] GO:0032469[endoplasmic reticulum calcium ion homeostasis] GO:0032976[release of matrix enzymes from mitochondria] GO:0034620[cellular response to unfolded protein] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0042981[regulation of apoptotic process] GO:0043065[positive regulation of apoptotic process] GO:0043525[positive regulation of neuron apoptotic process] GO:0043653[mitochondrial fragmentation involved in apoptotic process] GO:0046930[pore complex] GO:0046982[protein heterodimerization activity] GO:0051434[BH3 domain binding] GO:0051881[regulation of mitochondrial membrane potential] GO:0070059[intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress] GO:0070062[extracellular exosome] GO:0071944[cell periphery] GO:0090200[positive regulation of release of cytochrome c from mitochondria] GO:0097136[Bcl-2 family protein complex] GO:0097144[BAX complex] GO:0097145[BAK complex] 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:0097435[supramolecular fiber organization] GO:0098586[cellular response to virus] GO:1900103[positive regulation of endoplasmic reticulum unfolded protein response] 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:2001233[regulation of apoptotic signaling pathway] GO:2001244[positive regulation of intrinsic apoptotic signaling pathway]
Transporters Transporter channels and pores MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins TMHMM predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001783[B cell apoptotic process] GO:0001836[release of cytochrome c from mitochondria] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005635[nuclear envelope] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005741[mitochondrial outer membrane] GO:0005757[mitochondrial permeability transition pore complex] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005829[cytosol] GO:0006915[apoptotic process] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0008053[mitochondrial fusion] GO:0008289[lipid binding] 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:0009636[response to toxic substance] GO:0010248[establishment or maintenance of transmembrane electrochemical gradient] GO:0010917[negative regulation of mitochondrial membrane potential] GO:0015267[channel activity] GO:0016020[membrane] GO:0031334[positive regulation of protein-containing complex assembly] GO:0032091[negative regulation of protein binding] GO:0032469[endoplasmic reticulum calcium ion homeostasis] GO:0032976[release of matrix enzymes from mitochondria] GO:0034620[cellular response to unfolded protein] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0042981[regulation of apoptotic process] GO:0043065[positive regulation of apoptotic process] GO:0043525[positive regulation of neuron apoptotic process] GO:0043653[mitochondrial fragmentation involved in apoptotic process] GO:0046930[pore complex] GO:0046982[protein heterodimerization activity] GO:0051434[BH3 domain binding] GO:0051881[regulation of mitochondrial membrane potential] GO:0070059[intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress] GO:0070062[extracellular exosome] GO:0071944[cell periphery] GO:0090200[positive regulation of release of cytochrome c from mitochondria] GO:0097136[Bcl-2 family protein complex] GO:0097144[BAX complex] GO:0097145[BAK complex] 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:0097435[supramolecular fiber organization] GO:0098586[cellular response to virus] GO:1900103[positive regulation of endoplasmic reticulum unfolded protein response] 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:2001233[regulation of apoptotic signaling pathway] GO:2001244[positive regulation of intrinsic apoptotic signaling pathway]
MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins TMHMM predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Protein evidence (Ezkurdia et al 2014)
I6LPK7 [Direct mapping] Apoptosis regulator BAX; BCL2-associated X protein theta
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SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Protein evidence (Ezkurdia et al 2014)
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GO:0006915[apoptotic process] GO:0042981[regulation of apoptotic process] GO:0043065[positive regulation of apoptotic process]