BAX: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

BAX

Aliases

BCL2L4

Entrez Gene ID

581

Gene Name

BCL2 associated X, apoptosis regulator

Chromosomal Location

19q13.33

HGNC ID

HGNC:959

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. 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]

RefSeq DNA

NG_012191.1

RefSeq mRNA

NM_138761.4, NR_027882.2, NM_004324.4, NM_138763.4, NM_138764.5, NM_001291428.2, NM_001291429.2, NM_001291430.1, NM_001291431.2

e!Ensembl

Gene	ENSG00000087088
Transcript	ENST00000345358, ENST00000515540, ENST00000356483, ENST00000415969, ENST00000354470, ENST00000506183, ENST00000293288, ENST00000539787, ENST00000391871
Protein	ENSP00000263262, ENSP00000426328, ENSP00000348871, ENSP00000389971, ENSP00000346461, ENSP00000426184, ENSP00000293288, ENSP00000441413, ENSP00000375744

Gene Ontology (GO)

Show/Hide all(74 )

GO ID	Ontology	Function	Evidence	Reference
GO:0001783	Biological process	B cell apoptotic process	IDA	15214043, 16424160
GO:0001836	Biological process	Release of cytochrome c from mitochondria	IBA	21873635
GO:0001836	Biological process	Release of cytochrome c from mitochondria	IDA	9843949, 16199525, 17052454
GO:0006915	Biological process	Apoptotic process	IDA	9660918
GO:0006915	Biological process	Apoptotic process	IMP	9531611
GO:0006915	Biological process	Apoptotic process	NAS	9920818
GO:0006919	Biological process	Activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	11912183
GO:0006919	Biological process	Activation of cysteine-type endopeptidase activity involved in apoptotic process	IMP	11350920
GO:0008053	Biological process	Mitochondrial fusion	IBA	21873635
GO:0008053	Biological process	Mitochondrial fusion	IDA	14769861
GO:0008625	Biological process	Extrinsic apoptotic signaling pathway via death domain receptors	IC	16199525
GO:0008630	Biological process	Intrinsic apoptotic signaling pathway in response to DNA damage	IBA	21873635
GO:0008635	Biological process	Activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c	IDA	15214043
GO:0008637	Biological process	Apoptotic mitochondrial changes	IDA	9843949
GO:0009636	Biological process	Response to toxic substance	IDA	16307838
GO:0010248	Biological process	Establishment or maintenance of transmembrane electrochemical gradient	IDA	9843949
GO:0010917	Biological process	Negative regulation of mitochondrial membrane potential	IDA	16751333
GO:0032091	Biological process	Negative regulation of protein binding	IDA	9388232
GO:0032461	Biological process	Positive regulation of protein oligomerization	IDA	19805544
GO:0032469	Biological process	Endoplasmic reticulum calcium ion homeostasis	TAS	18309324
GO:0032976	Biological process	Release of matrix enzymes from mitochondria	IDA	9843949
GO:0034620	Biological process	Cellular response to unfolded protein	TAS	22013210
GO:0043065	Biological process	Positive regulation of apoptotic process	IBA	21873635
GO:0043065	Biological process	Positive regulation of apoptotic process	IDA	16751333, 17464193
GO:0043065	Biological process	Positive regulation of apoptotic process	IMP	17289999
GO:0043496	Biological process	Regulation of protein homodimerization activity	IDA	9111042
GO:0043497	Biological process	Regulation of protein heterodimerization activity	IPI	9111042
GO:0043525	Biological process	Positive regulation of neuron apoptotic process	IDA	15637643
GO:0043653	Biological process	Mitochondrial fragmentation involved in apoptotic process	IDA	12499352
GO:0051259	Biological process	Protein complex oligomerization	IDA	19074440
GO:0051260	Biological process	Protein homooligomerization	IDA	14522999, 19767770
GO:0051881	Biological process	Regulation of mitochondrial membrane potential	IDA	9843949
GO:0070059	Biological process	Intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IMP	16645094
GO:0070059	Biological process	Intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	TAS	22934019
GO:0090200	Biological process	Positive regulation of release of cytochrome c from mitochondria	IDA	14963330
GO:0090200	Biological process	Positive regulation of release of cytochrome c from mitochondria	IMP	21262771
GO:0097190	Biological process	Apoptotic signaling pathway	IDA	16424160
GO:0097191	Biological process	Extrinsic apoptotic signaling pathway	IDA	15214043
GO:0097192	Biological process	Extrinsic apoptotic signaling pathway in absence of ligand	IBA	21873635
GO:0097193	Biological process	Intrinsic apoptotic signaling pathway	IDA	9219694, 16462759
GO:1900103	Biological process	Positive regulation of endoplasmic reticulum unfolded protein response	IMP	16645094
GO:1902512	Biological process	Positive regulation of apoptotic DNA fragmentation	IMP	11350920
GO:1903896	Biological process	Positive regulation of IRE1-mediated unfolded protein response	TAS	22013210
GO:1990117	Biological process	B cell receptor apoptotic signaling pathway	IDA	15214043
GO:2001244	Biological process	Positive regulation of intrinsic apoptotic signaling pathway	IMP	14963330, 21199865, 21262771
GO:0005634	Cellular component	Nucleus	IDA	12925958
GO:0005634	Cellular component	Nucleus	IMP	15102863
GO:0005635	Cellular component	Nuclear envelope	IDA	12925958
GO:0005737	Cellular component	Cytoplasm	IDA	16302269, 29531808
GO:0005739	Cellular component	Mitochondrion	IDA	11912183, 15102863, 15705586, 16199525, 17823127, 19767770
GO:0005741	Cellular component	Mitochondrial outer membrane	IBA	21873635
GO:0005741	Cellular component	Mitochondrial outer membrane	IDA	29531808
GO:0005757	Cellular component	Mitochondrial permeability transition pore complex	IDA	9843949
GO:0005783	Cellular component	Endoplasmic reticulum	IDA	16424160
GO:0005789	Cellular component	Endoplasmic reticulum membrane	IDA	16424160
GO:0005829	Cellular component	Cytosol	IDA	11912183, 12925958, 15102863, 15705586, 17823127, 19767770
GO:0016020	Cellular component	Membrane	HDA	19946888
GO:0046930	Cellular component	Pore complex	IDA	9219694
GO:0070062	Cellular component	Extracellular exosome	HDA	20458337
GO:0071944	Cellular component	Cell periphery	IDA	21803450
GO:0097136	Cellular component	Bcl-2 family protein complex	IDA	21199865
GO:0097144	Cellular component	BAX complex	IDA	19767770
GO:0005515	Molecular function	Protein binding	IPI	9027312, 9111042, 9388232, 9463381, 9843949, 10753914, 11161816, 11278245, 11571294, 11574543, 12732850, 12925958, 14730312, 14752512, 14963330, 15205477, 15901672, 16113678, 16151013, 16439990, 16509771, 16608847, 16645094, 17123957, 17289999, 17485524, 17525735, 17606912, 17635912
GO:0008289	Molecular function	Lipid binding	IDA	14522999
GO:0015267	Molecular function	Channel activity	IBA	21873635
GO:0015267	Molecular function	Channel activity	IDA	9219694
GO:0042802	Molecular function	Identical protein binding	IPI	10620504, 14963330, 16113678, 17289999, 17668322, 18547146, 18835031, 19062087, 19074440, 19767770, 20360684, 20850011, 22198199, 23374347
GO:0042803	Molecular function	Protein homodimerization activity	IBA	21873635
GO:0042803	Molecular function	Protein homodimerization activity	IDA	16608847
GO:0042803	Molecular function	Protein homodimerization activity	IPI	9111042
GO:0046982	Molecular function	Protein heterodimerization activity	IBA	21873635
GO:0046982	Molecular function	Protein heterodimerization activity	IPI	9111042
GO:0051434	Molecular function	BH3 domain binding	IDA	21199865
GO:0051434	Molecular function	BH3 domain binding	IPI	15705586, 17052454

Protein Information

Protein Name

Apoptosis regulator BAX, BCL2 associated X protein, BCL2-associated X protein omega, Baxdelta2G9, Baxdelta2G9omega, Baxdelta2omega, bcl-2-like protein 4, bcl2-L-4

Function

Plays a role in the mitochondrial apoptotic process. 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) (PubMed:21458670). 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.

Refseq Proteins

NP_620116.1, , NP_004315.1, NP_620118.1, NP_620119.2, NP_001278357.1, NP_001278358.1, NP_001278359.1, NP_001278360.1

UniProt

Q07812

PDB

3PL7, 2K7W, 4ZIE, 4ZIF, 4ZIH, 1F16, 2G5B, 2LR1, 3PK1, 4BD2, 4BD6, 4BD7, 4BD8, 4BDU, 4S0O, 4S0P, 4UF2, 4ZIG, 4ZII, 5W5X, 5W5Z, 5W60, 5W61, 6EB6