Homo sapiens Gene: BAX
Summary
InnateDB Gene IDBG-61459.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BAX
Gene Name BCL2-associated X protein
Synonyms BCL2L4;
Species Homo sapiens
Ensembl Gene ENSG00000087088
Encoded Proteins
BCL2-associated X protein
BCL2-associated X protein
BCL2-associated X protein
BCL2-associated X protein
BCL2-associated X protein
BCL2-associated X protein
BCL2-associated X protein
BCL2-associated X protein
BCL2-associated X protein
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:48954815-48961798
Strand Forward strand
Band q13.33
Transcripts
ENST00000356483 ENSP00000348871
ENST00000345358 ENSP00000263262
ENST00000354470 ENSP00000346461
ENST00000293288 ENSP00000293288
ENST00000391871 ENSP00000375744
ENST00000415969 ENSP00000389971
ENST00000502487
ENST00000513545
ENST00000515540 ENSP00000426328
ENST00000506183 ENSP00000426184
ENST00000503726
ENST00000513217
ENST00000539787 ENSP00000441413
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 139 experimentally validated interaction(s) in this database.
They are also associated with 19 interaction(s) predicted by orthology.
Experimentally validated
Total 139 [view]
Protein-Protein 125 [view]
Protein-DNA 14 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 19 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0008289 lipid binding
GO:0015267 channel activity
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0046982 protein heterodimerization activity
GO:0051434 BH3 domain binding
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: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:0006927 transformed cell 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 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 patterning of blood vessels
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:1990009 retinal cell apoptotic process
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
Cellular Component
GO:0005622 intracellular
GO:0005634 nucleus
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:0016020 membrane
GO:0031966 mitochondrial membrane
GO:0046930 pore complex
GO:0070062 extracellular vesicular exosome
GO:0097136 Bcl-2 family protein complex
GO:0097144 BAX complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
TNFalpha pathway
BCR pathway
IL3 pathway
IL5 pathway
REACTOME
Apoptosis pathway
Activation, translocation and oligomerization of BAX pathway
Intrinsic Pathway for Apoptosis pathway
KEGG
p53 signaling pathway pathway
Protein processing in endoplasmic reticulum pathway
Apoptosis pathway
Neurotrophin signaling pathway pathway
Amyotrophic lateral sclerosis (ALS) pathway
Huntington's disease pathway
Prion diseases pathway
Pathways in cancer pathway
Colorectal cancer pathway
INOH
TNFR1 signaling pathway pathway
Fas signaling pathway pathway
PID BIOCARTA
Role of mitochondria in apoptotic signaling [Biocarta view]
Apoptotic signaling in response to dna damage [Biocarta view]
Hypoxia and p53 in the cardiovascular system [Biocarta view]
Regulation of cell cycle progression by plk3 [Biocarta view]
Regulation of bad phosphorylation [Biocarta view]
Ceramide signaling pathway [Biocarta view]
PID NCI
Syndecan-2-mediated signaling events
Ceramide signaling pathway
Caspase Cascade in Apoptosis
Direct p53 effectors
Validated targets of C-MYC transcriptional activation
Glucocorticoid receptor regulatory network
p73 transcription factor network
Signaling events mediated by HDAC Class III
Validated transcriptional targets of TAp63 isoforms
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_004324 NM_138761 NM_138763 NM_138764
HUGO
OMIM
CCDS CCDS12742 CCDS12743 CCDS12744 CCDS12745
HPRD 02498
IMGT
EMBL
GenPept
RNA Seq Atlas