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 [+]

Source	Domain Name	Start	End
PFAM A	Bcl-2	63	158

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

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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

KEGG Pathways [+]

Information from other databases [+]

Gene related links:

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

Protein related links:

Uniprot protein info: Q07812
PIR protein info: Q07812
Protein interactions from IntAct: Q07812

Gene and disease information from OMIM: (For a full disease description table, click here.)

OMIM gene information: 600040
OMIM disease information:

Other links

entrezgene: 581
refseq_dna: NM_138763
refseq_dna: NM_138765
refseq_dna: NM_138761
refseq_dna: NM_004324
refseq_dna: NM_138764
refseq_peptide: NP_620118
refseq_peptide: NP_620116
refseq_peptide: NP_620120
refseq_peptide: NP_004315
refseq_peptide: NP_620119

Click on [?] for more information.