BAX (Homo sapiens)
Description [+]
- Synonyms: BAX, BCL2L4
- Species: Metazoa;Bilateria;Deuterostoma;Chordata;Vertebrata;Mammalia;Primates;Hominidae; Homo sapiens
- Short gene description: Apoptosis regulator BAX [Source:UniProtKB/Swiss-Prot;Acc:Q07812]
- Family: Bcl-2 family : multidomain Bcl-2
- Process: apoptosis,
- Pathways: intrinsic pathway, pre-mitochondrial signaling events,
- Criteria: manually curated
- Curator comment:
- Mouse ortholog(s): Bax
- WIKI: BAX-H_sapiens
References [+]
- Bcl-2 heterodimerizes in vivo with a conserved homolog, Bax, that accelerates programmed cell death.
- Oltvai ZN, Milliman CL, Korsmeyer SJ
- Bcl-2 protein is able to repress a number of apoptotic death programs. To investigate the mechanism of Bcl-2's effect, we examined whether Bcl-2 interacted with other proteins. We identified an associated 21 kd protein partner, Bax, that has extensive amino acid homology with Bcl-2, focused within highly conserved domains I and II. Bax is encoded by six exons and demonstrates a complex pattern of alternative RNA splicing that predicts a 21 kd membrane (alpha) and two forms of cytosolic protein (beta and gamma). Bax homodimerizes and forms heterodimers with Bcl-2 in vivo. Overexpressed Bax accelerates apoptotic death induced by cytokine deprivation in an IL-3-dependent cell line. Overexpressed Bax also counters the death repressor activity of Bcl-2. These data suggest a model in which the ratio of Bcl-2 to Bax determines survival or death following an apoptotic stimulus. Cell. 1993 Aug 27;74(4):609-19.
- References from Mouse ortholog(s):
- ARC, an inhibitor of apoptosis expressed in skeletal muscle and heart that interacts selectively with caspases.
- Koseki T, Inohara N, Chen S, Nunez G
- We have identified and characterized ARC, apoptosis repressor with caspase recruitment domain (CARD). Sequence analysis revealed that ARC contains an N-terminal CARD fused to a C-terminal region rich in proline/glutamic acid residues. The CARD domain of ARC exhibited significant homology to the prodomains of apical caspases and the CARDs present in the cell death regulators Apaf-1 and RAIDD. Immunoprecipitation analysis revealed that ARC interacts with caspase-2, -8, and Caenorhabditis elegans CED-3, but not with caspase-1, -3, or -9. ARC inhibited apoptosis induced by caspase-8 and CED-3 but not that mediated by caspase-9. Further analysis showed that the enzymatic activity of caspase-8 was inhibited by ARC in 293T cells. Consistent with the inhibition of caspase-8, ARC attenuated apoptosis induced by FADD and TRADD and that triggered by stimulation of death receptors coupled to caspase-8, including CD95/Fas, tumor necrosis factor-R1, and TRAMP/DR3. Remarkably, the expression of human ARC was primarily restricted to skeletal muscle and cardiac tissue. Thus, ARC represents an inhibitor of apoptosis expressed in muscle that appears to selectively target caspases. Delivery of ARC by gene transfer or enhancement of its endogenous activity may provide a strategy for the treatment of diseases that are characterized by inappropriately increased cell death in muscle tissue. Proc Natl Acad Sci U S A. 1998 Apr 28;95(9):5156-60.
Structure & Sequence [+]
Pfam domains:
(Pfam is a large collection of protein families.)
Source | Domain Name | Start | End |
---|---|---|---|
PFAM A | Bcl-2 | 63 | 158 |
Protein sequence [+]
BAX | Homo sapiens | 9606 | length:218
MDGSGEQPRGGGPTSSEQIMKTGALLLQGFIQDRAGRMGGEAPELALDPVPQDASTKKLS
ECLKRIGDELDSNMELQRMIAAVDTDSPREVFFRVAADMFSDGNFNWGRVVALFYFASKL
VLKALCTKVPELIRTIMGWTLDFLRERLLGWIQDQGGWVRLLKPPHPHHRALTTAPAPPS
LPPATPLGPWAFWSRSQWCPLPIFRSSDVVYNAFSLRV
ECLKRIGDELDSNMELQRMIAAVDTDSPREVFFRVAADMFSDGNFNWGRVVALFYFASKL
VLKALCTKVPELIRTIMGWTLDFLRERLLGWIQDQGGWVRLLKPPHPHHRALTTAPAPPS
LPPATPLGPWAFWSRSQWCPLPIFRSSDVVYNAFSLRV
Structure links:
- Smartdomain prediction information: SM00337
- Prosite motif and domain information: PS01080
- Prosite motif and domain information: PS01258
- Prosite motif and domain information: PS01259
- Profile motif and domain profile information: PS50062
- Interpro domain information: Q07812
- PFAM domain and domain family information: Q07812
Evolution [+]
View protein alignment and tree with Jalview:  
Explore tree at phylomeDB:   Click here.
Homologs list [+]
Name | Relationship | Species |
---|---|---|
BAX | orthology | Chimpanzee |
C_intestinalis_ENSCINP00000024813 | orthology | Ciona |
BAX_BOVIN | orthology | Cow |
NP_001003011.1 | orthology | Dog |
BAX | orthology | Fugu |
BAX | orthology | Gasterosteus |
BAX | orthology | Gorilla |
BAX | orthology | Horse |
BAX | orthology | Lyzard |
BAX | orthology | Macaca |
BAX | orthology | Medaka |
BAX | orthology | Monodelphis |
Bax | orthology | Mouse |
A0EJI1_PONPY | orthology | Orangutan |
BAX | orthology | Rabbit |
Bax | orthology | Rat |
R_norvegicus_ENSRNOP00000052069 | orthology | Rat |
bax | orthology | Xenopus |
BAX | orthology | Zebra finch |
baxa | orthology | Zebrafish |
A_aegypti_AAEL001515-PA | paralogy | Aedes |
Q2PHG8_ANOGA | paralogy | Anopheles |
BOK_CHICK | paralogy | Chicken |
NP_001026091.1 | paralogy | Chicken |
BCL2 | paralogy | Chimpanzee |
BCL2A1 | paralogy | Chimpanzee |
BCL2L2 | paralogy | Chimpanzee |
BCL2L1 | paralogy | Chimpanzee |
XR_024448.1 | paralogy | Chimpanzee |
BCLW_BOVIN | paralogy | Cow |
NP_001092338.1 | paralogy | Cow |
B2LA1_BOVIN | paralogy | Cow |
NP_001071386.1 | paralogy | Cow |
NP_001070954.1 | paralogy | Cow |
BCL2 | paralogy | Dog |
MCL1_CANFA | paralogy | Dog |
BCL2A1 | paralogy | Dog |
NP_001003072.1 | paralogy | Dog |
NP_001018644.1 | paralogy | Dog |
BCL2 | paralogy | Fugu |
BOK (1 of 2) | paralogy | Fugu |
BCL2L1 (1 of 6) | paralogy | Fugu |
T_rubripes_ENSTRUP00000006891 | paralogy | Fugu |
BCL2L1 (3 of 6) | paralogy | Fugu |
BCL2L1 (2 of 6) | paralogy | Fugu |
BCL2 | paralogy | Gasterosteus |
G_aculeatus_ENSGACP00000018978 | paralogy | Gasterosteus |
BOK (1 of 2) | paralogy | Gasterosteus |
BOK (2 of 2) | paralogy | Gasterosteus |
BCL2L1 (1 of 2) | paralogy | Gasterosteus |
BCL2A1 | paralogy | Gorilla |
BCL2 | paralogy | Gorilla |
BOK | paralogy | Gorilla |
MCL1 | paralogy | Gorilla |
BCL2L2 | paralogy | Gorilla |
BAK1 | paralogy | Gorilla |
MCL1 | paralogy | Horse |
BCL2A1 | paralogy | Horse |
BAK1 | paralogy | Horse |
BCL2L1 | paralogy | Horse |
BCL2L2 | paralogy | Horse |
BCL2 | paralogy | Horse |
BCL2A1 | paralogy | Human |
MCL1 | paralogy | Human |
BCL2L2 | paralogy | Human |
BCL2L1 | paralogy | Human |
BOK | paralogy | Human |
BAK1 | paralogy | Human |
BCL2 | paralogy | Human |
BOK | paralogy | Lyzard |
BCL2A1 | paralogy | Lyzard |
A_carolinensis_ENSACAP00000004550 | paralogy | Lyzard |
BCL2L1 | paralogy | Lyzard |
BCL2 | paralogy | Lyzard |
BAK1 | paralogy | Lyzard |
BCL2L1 | paralogy | Macaca |
BCL2 | paralogy | Macaca |
BCL2A1 | paralogy | Macaca |
BOK | paralogy | Macaca |
BCL2L2 | paralogy | Macaca |
BAK1 | paralogy | Macaca |
BCL2 | paralogy | Medaka |
BOK (1 of 2) | paralogy | Medaka |
BCL2L1 | paralogy | Medaka |
BOK (2 of 2) | paralogy | Medaka |
BCL2A1 | paralogy | Monodelphis |
BCL2L1 | paralogy | Monodelphis |
BOK | paralogy | Monodelphis |
BAK1 | paralogy | Monodelphis |
M_domestica_ENSMODP00000005598 | paralogy | Monodelphis |
BCL2 | paralogy | Monodelphis |
Bcl2l2 | paralogy | Mouse |
Mcl1 | paralogy | Mouse |
Bcl2l1 | paralogy | Mouse |
Bcl2 | paralogy | Mouse |
Bak1 | paralogy | Mouse |
Bok | paralogy | Mouse |
BCL2A1 | paralogy | Orangutan |
P_pygmaeus_ENSPPYP00000006150 | paralogy | Orangutan |
BCL2L1 | paralogy | Orangutan |
BCL2 | paralogy | Orangutan |
BOK | paralogy | Orangutan |
BCL2L2 | paralogy | Ornithorhynchus |
BOK | paralogy | Ornithorhynchus |
BAK1 | paralogy | Rabbit |
BCL2A1 | paralogy | Rabbit |
Q9MYW4_RABIT | paralogy | Rabbit |
Bok | paralogy | Rat |
RGD1561847_predicted | paralogy | Rat |
BCLX_RAT | paralogy | Rat |
Bak1 | paralogy | Rat |
RGD1565822_predicted | paralogy | Rat |
Bcl2a1 | paralogy | Rat |
Bcl2 | paralogy | Rat |
BCL2L1 (2 of 3) | paralogy | Tetraodon |
T_nigroviridis_ENSTNIP00000017211 | paralogy | Tetraodon |
BCL2L1 (1 of 3) | paralogy | Tetraodon |
BOK (2 of 2) | paralogy | Tetraodon |
BCL2L1 (3 of 3) | paralogy | Tetraodon |
BOK (1 of 2) | paralogy | Tetraodon |
BCL2 | paralogy | Tetraodon |
BAK1 | paralogy | Xenopus |
BCL2 | paralogy | Xenopus |
bcl2l2 | paralogy | Xenopus |
BCL2 | paralogy | Zebra finch |
BCL2L1 | paralogy | Zebra finch |
BOK | paralogy | Zebra finch |
bcl2 | paralogy | Zebrafish |
bokb | paralogy | Zebrafish |
zgc:153993 | paralogy | Zebrafish |
BAXB | paralogy | Zebrafish |
boka | paralogy | Zebrafish |
DeathBase uses Jalview, an external application that requires Java. Please, check that you have the latest version of Java
installed and that Java is enabled in your browser. When correctly installed your browser should display the following examples properly. You can download the latest version of Java at Java Download Site.
Gene Ontology [+]
GO id | Name | Ontology type | Evidence |
---|---|---|---|
GO:0009636 | response to toxin | biological_proccess | IDA |
GO:0001783 | B cell apoptosis | biological_proccess | IEP |
GO:0008624 | induction of apoptosis by extracellular signals | biological_proccess | IDA |
GO:0008635 | activation of caspase activity by cytochrome c | biological_proccess | IDA |
GO:0006927 | transformed cell apoptosis | biological_proccess | IMP |
GO:0006309 | DNA fragmentation during apoptosis | biological_proccess | IMP |
GO:0030264 | nuclear fragmentation during apoptosis | biological_proccess | IMP |
GO:0043653 | mitochondrial fragmentation during apoptosis | biological_proccess | IDA |
GO:0043525 | positive regulation of neuron apoptosis | biological_proccess | IDA |
GO:0001836 | release of cytochrome c from mitochondria | biological_proccess | IDA |
GO:0010248 | establishment or maintenance of transmembrane electrochemical gradient | biological_proccess | IDA |
GO:0051260 | protein homooligomerization | biological_proccess | IDA |
GO:0008634 | negative regulation of survival gene product expression | biological_proccess | IDA |
GO:0008629 | induction of apoptosis by intracellular signals | biological_proccess | IDA |
GO:0006922 | cleavage of lamin | biological_proccess | IMP |
GO:0008053 | mitochondrial fusion | biological_proccess | IDA |
GO:0032976 | release of matrix enzymes from mitochondria | biological_proccess | IDA |
GO:0051881 | regulation of mitochondrial membrane potential | biological_proccess | IDA |
GO:0043497 | regulation of protein heterodimerization activity | biological_proccess | IPI |
GO:0042981 | regulation of apoptosis | biological_proccess | IEA |
GO:0043496 | regulation of protein homodimerization activity | biological_proccess | IDA |
GO:0046674 | induction of retinal programmed cell death | biological_proccess | IMP |
GO:0001782 | B cell homeostasis | biological_proccess | IEA |
GO:0006915 | apoptosis | biological_proccess | IEA |
GO:0007281 | germ cell development | biological_proccess | IEA |
GO:0006974 | response to DNA damage stimulus | biological_proccess | IEA |
GO:0008285 | negative regulation of cell proliferation | biological_proccess | IEA |
GO:0007283 | spermatogenesis | biological_proccess | IEA |
GO:0006808 | regulation of nitrogen utilization | biological_proccess | IEA |
GO:0009791 | post-embryonic development | biological_proccess | IEA |
GO:0048873 | homeostasis of number of cells within a tissue | biological_proccess | IEA |
GO:0001541 | ovarian follicle development | biological_proccess | IEA |
GO:0006917 | induction of apoptosis | biological_proccess | IEA |
GO:0008283 | cell proliferation | biological_proccess | IEA |
GO:0051726 | regulation of cell cycle | biological_proccess | IEA |
GO:0010212 | response to ionizing radiation | biological_proccess | IEA |
GO:0007399 | nervous system development | biological_proccess | IEA |
GO:0007548 | sex differentiation | biological_proccess | IEA |
GO:0009636 | response to toxin | biological_proccess | IEA |
GO:0006919 | activation of caspase activity | biological_proccess | IEA |
GO:0048147 | negative regulation of fibroblast proliferation | biological_proccess | IEA |
GO:0001822 | kidney development | biological_proccess | IEA |
GO:0001764 | neuron migration | biological_proccess | IEA |
GO:0009566 | fertilization | biological_proccess | IEA |
GO:0048872 | homeostasis of number of cells | biological_proccess | IEA |
GO:0042475 | odontogenesis of dentine-containing tooth | biological_proccess | IEA |
GO:0051402 | neuron apoptosis | biological_proccess | IEA |
GO:0051260 | protein homooligomerization | biological_proccess | IEA |
GO:0031558 | induction of apoptosis in response to chemical stimulus | biological_proccess | IEA |
GO:0043065 | positive regulation of apoptosis | biological_proccess | IEA |
GO:0043525 | positive regulation of neuron apoptosis | biological_proccess | IEA |
GO:0043524 | negative regulation of neuron apoptosis | biological_proccess | IEA |
GO:0008584 | male gonad development | biological_proccess | IEA |
GO:0019987 | negative regulation of anti-apoptosis | biological_proccess | IEA |
GO:0010332 | response to gamma radiation | biological_proccess | IEA |
GO:0001101 | response to acid | biological_proccess | IEA |
GO:0001974 | blood vessel remodeling | biological_proccess | IEA |
GO:0002262 | myeloid cell homeostasis | biological_proccess | IEA |
GO:0008624 | induction of apoptosis by extracellular signals | biological_proccess | IEA |
GO:0001836 | release of cytochrome c from mitochondria | biological_proccess | IEA |
GO:0008629 | induction of apoptosis by intracellular signals | biological_proccess | IEA |
GO:0021987 | cerebral cortex development | biological_proccess | IEA |
GO:0051281 | positive regulation of release of sequestered calcium ion into cytosol | biological_proccess | IEA |
GO:0008637 | apoptotic mitochondrial changes | biological_proccess | IEA |
GO:0060041 | retina development in camera-type eye | biological_proccess | IEA |
GO:0001783 | B cell apoptosis | biological_proccess | IEA |
GO:0001844 | protein insertion into mitochondrial membrane during induction of apoptosis | biological_proccess | IEA |
GO:0009611 | response to wounding | biological_proccess | IEA |
GO:0006687 | glycosphingolipid metabolic process | biological_proccess | IEA |
GO:0035234 | germ cell programmed cell death | biological_proccess | IEA |
GO:0048678 | response to axon injury | biological_proccess | IEA |
GO:0008053 | mitochondrial fusion | biological_proccess | IEA |
GO:0043281 | regulation of caspase activity | biological_proccess | IEA |
GO:0035108 | limb morphogenesis | biological_proccess | IEA |
GO:0046902 | regulation of mitochondrial membrane permeability | biological_proccess | IEA |
GO:0048087 | positive regulation of pigmentation during development | biological_proccess | IEA |
GO:0045136 | development of secondary sexual characteristics | biological_proccess | IEA |
GO:0060058 | positive regulation of apoptosis involved in mammary gland involution | biological_proccess | IEA |
GO:0002904 | positive regulation of B cell apoptosis | biological_proccess | IEA |
GO:0048597 | post-embryonic camera-type eye morphogenesis | biological_proccess | IEA |
GO:0002358 | B cell homeostatic proliferation | biological_proccess | IEA |
GO:0009651 | response to salt stress | biological_proccess | IEA |
GO:0001776 | leukocyte homeostasis | biological_proccess | IEA |
GO:0060011 | Sertoli cell proliferation | biological_proccess | IEA |
GO:0021854 | hypothalamus development | biological_proccess | IEA |
GO:0033137 | negative regulation of peptidyl-serine phosphorylation | biological_proccess | IEA |
GO:0046666 | retinal cell programmed cell death | biological_proccess | IEA |
GO:0034644 | cellular response to UV | biological_proccess | IEA |
GO:0070059 | apoptosis in response to endoplasmic reticulum stress | biological_proccess | IEA |
GO:0002352 | B cell negative selection | biological_proccess | IEA |
GO:0008635 | activation of caspase activity by cytochrome c | biological_proccess | IEA |
GO:0010524 | positive regulation of calcium ion transport into cytosol | biological_proccess | IEA |
GO:0032471 | reduction of endoplasmic reticulum calcium ion concentration | biological_proccess | IEA |
GO:0060068 | vagina development | biological_proccess | IEA |
GO:0048515 | spermatid differentiation | biological_proccess | IEA |
GO:0001777 | T cell homeostatic proliferation | biological_proccess | IEA |
GO:0030264 | nuclear fragmentation during apoptosis | biological_proccess | IEA |
GO:0033599 | regulation of mammary gland epithelial cell proliferation | biological_proccess | IEA |
GO:0008289 | lipid binding | mollecular_function | IDA |
GO:0051434 | BH3 domain binding | mollecular_function | IPI |
GO:0042803 | protein homodimerization activity | mollecular_function | IDA |
GO:0046982 | protein heterodimerization activity | mollecular_function | IPI |
GO:0005515 | protein binding | mollecular_function | IEA |
GO:0042803 | protein homodimerization activity | mollecular_function | IEA |
GO:0046982 | protein heterodimerization activity | mollecular_function | IEA |
GO:0051434 | BH3 domain binding | mollecular_function | IEA |
GO:0005789 | endoplasmic reticulum membrane | cell_component | IDA |
GO:0005757 | mitochondrial permeability transition pore complex | cell_component | IDA |
GO:0005783 | endoplasmic reticulum | cell_component | IDA |
GO:0005829 | cytosol | cell_component | IDA |
GO:0005739 | mitochondrion | cell_component | IDA |
GO:0005741 | mitochondrial outer membrane | cell_component | EXP |
GO:0005737 | cytoplasm | cell_component | IEA |
GO:0016020 | membrane | cell_component | IEA |
GO:0016021 | integral to membrane | cell_component | IEA |
GO:0005622 | intracellular | cell_component | IEA |
GO:0005783 | endoplasmic reticulum | cell_component | IEA |
GO:0005829 | cytosol | cell_component | IEA |
GO:0005739 | mitochondrion | cell_component | IEA |
GO:0005741 | mitochondrial outer membrane | cell_component | IEA |
GO:0005625 | soluble fraction | cell_component | IEA |
GO:0031966 | mitochondrial membrane | cell_component | IEA |
GO:0044445 | cytosolic part | cell_component | IEA |
Check GO Evidence Codes here
Information from other databases [+]
- Gene info from HGNC [?] :959
- Gene related info from GeneCards [?] : BAX
- Ensembl genome browser [?] : ENSG00000087088
- Expression info from Arrayexpress [?] : ENSG00000087088
- Protein expression from Protein Atlas: [?] ENSG00000087088
- Community gene edition from Wikigenes: [?] 581
- OMIM gene information: 600040
- OMIM disease information:
Click on [?] for more information.