Human Gene BAX (ENST00000345358.12_4) from GENCODE V47lift37
  Description: BCL2 associated X, apoptosis regulator, transcript variant epsilon (from RefSeq NR_027882.2)
Gencode Transcript: ENST00000345358.12_4
Gencode Gene: ENSG00000087088.21_10
Transcript (Including UTRs)
   Position: hg19 chr19:49,458,132-49,465,055 Size: 6,924 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr19:49,458,186-49,464,893 Size: 6,708 Coding Exon Count: 6 

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Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:49,458,132-49,465,055)mRNA (may differ from genome)Protein (192 aa)
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ReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  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/";

-  Primer design for this transcript
 

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-  MalaCards Disease Associations
  MalaCards Gene Search: BAX
Diseases sorted by gene-association score: leukemia, acute lymphoblastic* (639), acute t cell leukemia* (283), colorectal cancer* (265), colonic benign neoplasm* (126), colon adenocarcinoma (22), lymphoma (15), breast adenocarcinoma (15), ovary adenocarcinoma (12), malignant teratoma (12), burkitt lymphoma (12), glioma (11), lymphoblastic leukemia (10), kashin-beck disease (9), cartilage-hair hypoplasia (9), carbuncle (8), oral lichen planus (8), leukemia (8), lung cancer (8), cervical cancer, somatic (8), basal cell carcinoma (7), newcastle disease (7), retinal ischemia (6), denys-drash syndrome (6), gastric lymphoma (6), alk-negative anaplastic large cell lymphoma (6), ovarian serous cystadenocarcinoma (6), panniculitis (5), b-cell lymphomas (5), fuchs' endothelial dystrophy (5), serous cystadenocarcinoma (5), testicular germ cell tumor (5), small intestinal adenocarcinoma (4), pancreatic cancer (4), li-fraumeni syndrome (4), endometrial cancer (4), breast cancer (3), chronic lymphocytic leukemia (3), lateral sclerosis (2), esophageal cancer (2), prostate cancer (2), hepatocellular carcinoma (2), ovarian cancer, somatic (1), oral cavity cancer (1), adamantinoma of long bones (1), gastric cancer, somatic (1), lymphoma, non-hodgkin (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 81.85 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 903.74 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -29.8054-0.552 Picture PostScript Text
3' UTR -53.70162-0.331 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR026304 - BAX
IPR002475 - Bcl2-like
IPR020717 - Bcl2_BH1_motif_CS
IPR020726 - Bcl2_BH2_motif_CS
IPR020728 - Bcl2_BH3_motif_CS
IPR026298 - Blc2_fam

Pfam Domains:
PF00452 - Apoptosis regulator proteins, Bcl-2 family

SCOP Domains:
56854 - Bcl-2 inhibitors of programmed cell death

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1F16 - NMR MuPIT 2G5B - X-ray 2K7W - NMR MuPIT 3PK1 - X-ray MuPIT 3PL7 - X-ray MuPIT


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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008289 lipid binding
GO:0015267 channel activity
GO:0030544 Hsp70 protein binding
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0046982 protein heterodimerization activity
GO:0051087 chaperone binding
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: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

Cellular Component:
GO:0005622 intracellular
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:0016020 membrane
GO:0016021 integral component of membrane
GO:0031966 mitochondrial membrane
GO:0046930 pore complex
GO:0070062 extracellular exosome
GO:0097136 Bcl-2 family protein complex
GO:0097144 BAX complex
GO:0071944 cell periphery


-  Descriptions from all associated GenBank mRNAs
  BC014175 - Homo sapiens BCL2-associated X protein, mRNA (cDNA clone MGC:20956 IMAGE:4578562), complete cds.
AK291076 - Homo sapiens cDNA FLJ77115 complete cds, highly similar to Homo sapiens BCL2-associated X protein (BAX), transcript variant alpha, mRNA.
CU680816 - Synthetic construct Homo sapiens gateway clone IMAGE:100017561 5' read BAX mRNA.
KJ890756 - Synthetic construct Homo sapiens clone ccsbBroadEn_00150 BAX gene, encodes complete protein.
L22475 - Human Bax gamma mRNA, complete cds.
JA397958 - Sequence 23 from Patent EP2331135.
AB528719 - Synthetic construct DNA, clone: pF1KB6979, Homo sapiens BAX gene for BCL2-associated X protein, without stop codon, in Flexi system.
HQ889830 - Homo sapiens BCL2-associated X protein theta (BAX) mRNA, complete cds, alternatively spliced.
JA397956 - Sequence 21 from Patent EP2331135.
L22474 - Human Bax beta mRNA, complete cds.
AF007826 - Homo sapiens bax epsilon mRNA, complete cds.
AF247393 - Homo sapiens bax-sigma mRNA, complete cds.
JA397955 - Sequence 20 from Patent EP2331135.
JA397957 - Sequence 22 from Patent EP2331135.
JA397959 - Sequence 24 from Patent EP2331135.
JX524562 - Homo sapiens BCL2-associated X protein transcript variant delta2 (BAX) mRNA, complete cds, alternatively spliced.
KF830846 - Homo sapiens Baxdelta2G9 (Bax) mRNA, complete cds, alternatively spliced.
L22473 - Human Bax alpha mRNA, complete cds.
U19599 - Human (BAX delta) mRNA, complete cds.
AF250190 - Homo sapiens Bax zeta mRNA, complete cds, alternatively spliced.
KF830847 - Homo sapiens Baxdelta2omega (Bax) mRNA, complete cds, alternatively spliced.
KF830848 - Homo sapiens Baxdelta2G9omega (Bax) mRNA, complete cds, alternatively spliced.
AJ586909 - Homo sapiens partial mRNA for bax protein (BAX gene), splice variant lambda.
AJ586910 - Homo sapiens partial mRNA for bax protein (BAX gene), splice variant gamma.
AJ417988 - Homo sapiens mRNA for bax isoform psi (BAX gene).
JA397960 - Sequence 25 from Patent EP2331135.
JA397961 - Sequence 26 from Patent EP2331135.
JD356049 - Sequence 337073 from Patent EP1572962.
JD356040 - Sequence 337064 from Patent EP1572962.
JD473073 - Sequence 454097 from Patent EP1572962.
JD436477 - Sequence 417501 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_p53hypoxiaPathway - Hypoxia and p53 in the Cardiovascular system
h_mitochondriaPathway - Role of Mitochondria in Apoptotic Signaling
h_badPathway - Regulation of BAD phosphorylation
h_chemicalPathway - Apoptotic Signaling in Response to DNA Damage
h_ceramidePathway - Ceramide Signaling Pathway
h_p53Pathway - p53 Signaling Pathway

Reactome (by CSHL, EBI, and GO)

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)

-  Other Names for This Gene
  Alternate Gene Symbols: A8K4W1, BAX_HUMAN, BCL2L4, ENST00000345358.1, ENST00000345358.10, ENST00000345358.11, ENST00000345358.2, ENST00000345358.3, ENST00000345358.4, ENST00000345358.5, ENST00000345358.6, ENST00000345358.7, ENST00000345358.8, ENST00000345358.9, NR_027882, P55269, Q07812, Q07814, Q07815, Q8WZ49, Q9NR76, Q9NYG7, Q9UCZ6, Q9UCZ7, Q9UQD6, uc317xfe.1, uc317xfe.2
UCSC ID: ENST00000345358.12_4
RefSeq Accession: NM_138761.4
Protein: Q07812 (aka BAX_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.