Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Apoptosis regulator BAX

Gene

BAX

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.6 Publications

GO - Molecular functioni

  • BH3 domain binding Source: UniProtKB
  • channel activity Source: BHF-UCL
  • chaperone binding Source: Ensembl
  • Hsp70 protein binding Source: Ensembl
  • identical protein binding Source: IntAct
  • lipid binding Source: HGNC
  • protein heterodimerization activity Source: HGNC
  • protein homodimerization activity Source: HGNC

GO - Biological processi

Keywordsi

Biological processApoptosis, Host-virus interaction

Enzyme and pathway databases

ReactomeiR-HSA-114294. Activation, translocation and oligomerization of BAX.
R-HSA-6803204. TP53 Regulates Transcription of Genes Involved in Cytochrome C Release.
R-HSA-6804114. TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest.
R-HSA-8878166. Transcriptional regulation by RUNX2.
SIGNORiQ07812.

Protein family/group databases

TCDBi1.A.21.1.2. the bcl-2 (bcl-2) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Apoptosis regulator BAX
Alternative name(s):
Bcl-2-like protein 4
Short name:
Bcl2-L-4
Gene namesi
Name:BAX
Synonyms:BCL2L4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000087088.19.
HGNCiHGNC:959. BAX.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei172 – 192HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cytoplasm, Membrane, Mitochondrion

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi21K → E: Reduces interaction with BCL2L11, homooligomerization and triggering of apoptosis. 1 Publication1
Mutagenesisi74M → D or E: Strongly reduced interaction with MCL1, BCL2, BCL2L1 and BCL2L2. No effect on cytochrome c release and subsequent apoptosis triggered by etoposide. 1 Publication1
Mutagenesisi184S → D, E, H or K: Constitutive cytoplasmic location. 1 Publication1
Mutagenesisi184S → V: Constitutive mitochondrial location. 1 Publication1

Keywords - Diseasei

Tumor suppressor

Organism-specific databases

DisGeNETi581.
MalaCardsiBAX.
OpenTargetsiENSG00000087088.
PharmGKBiPA25269.

Chemistry databases

ChEMBLiCHEMBL5318.

Polymorphism and mutation databases

BioMutaiBAX.
DMDMi728945.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001430531 – 192Apoptosis regulator BAXAdd BLAST192

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ07812.
MaxQBiQ07812.
PaxDbiQ07812.
PeptideAtlasiQ07812.
PRIDEiQ07812.
TopDownProteomicsiQ07812-1. [Q07812-1]
Q07812-2. [Q07812-2]
Q07812-5. [Q07812-5]
Q07812-6. [Q07812-6]
Q07812-8. [Q07812-8]

PTM databases

iPTMnetiQ07812.
PhosphoSitePlusiQ07812.
SwissPalmiQ07812.

Miscellaneous databases

PMAP-CutDBiQ07812.

Expressioni

Tissue specificityi

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.2 Publications

Gene expression databases

BgeeiENSG00000087088.
CleanExiHS_BAX.
ExpressionAtlasiQ07812. baseline and differential.
GenevisibleiQ07812. HS.

Organism-specific databases

HPAiCAB004206.
HPA027878.

Interactioni

Subunit structurei

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. Interacts with RTL10/BOP. Interacts (via a C-terminal 33 residues) with NOL3 (via CARD domain); inhibits BAX activation and translocation and consequently cytochrome c release from mitochondria.15 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • BH3 domain binding Source: UniProtKB
  • chaperone binding Source: Ensembl
  • Hsp70 protein binding Source: Ensembl
  • identical protein binding Source: IntAct
  • protein heterodimerization activity Source: HGNC
  • protein homodimerization activity Source: HGNC

Protein-protein interaction databases

BioGridi107057. 78 interactors.
CORUMiQ07812.
DIPiDIP-232N.
IntActiQ07812. 68 interactors.
MINTiMINT-134330.
STRINGi9606.ENSP00000293288.

Chemistry databases

BindingDBiQ07812.

Structurei

Secondary structure

1192
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Turni2 – 4Combined sources3
Beta strandi10 – 14Combined sources5
Helixi16 – 34Combined sources19
Helixi36 – 38Combined sources3
Helixi43 – 45Combined sources3
Helixi54 – 71Combined sources18
Helixi74 – 82Combined sources9
Helixi88 – 99Combined sources12
Turni100 – 102Combined sources3
Helixi107 – 147Combined sources41
Helixi149 – 154Combined sources6
Turni155 – 158Combined sources4
Helixi159 – 164Combined sources6
Helixi170 – 191Combined sources22

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1F16NMR-A1-192[»]
2G5BX-ray2.30I/J/K/L13-19[»]
2K7WNMR-A1-192[»]
2LR1NMR-A1-192[»]
3PK1X-ray2.49B/D48-81[»]
3PL7X-ray2.61C48-81[»]
4BD2X-ray2.21A1-171[»]
4BD6X-ray2.49A1-171[»]
C48-81[»]
4BD7X-ray2.80A/B/C/D1-171[»]
4BD8X-ray2.22A/B/C/D1-171[»]
4BDUX-ray3.00A/B/C/D53-128[»]
4S0OX-ray1.90A/B1-192[»]
4S0PX-ray3.25A/B1-192[»]
4UF2X-ray3.00B50-77[»]
4ZIEX-ray1.80A1-166[»]
4ZIFX-ray2.40A1-166[»]
4ZIGX-ray2.20A1-166[»]
4ZIHX-ray2.50A1-164[»]
4ZIIX-ray2.19A1-170[»]
ProteinModelPortaliQ07812.
SMRiQ07812.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ07812.

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi59 – 73BH3Add BLAST15
Motifi98 – 118BH1Add BLAST21
Motifi150 – 165BH2Add BLAST16

Domaini

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

Sequence similaritiesi

Belongs to the Bcl-2 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IWQJ. Eukaryota.
ENOG4112738. LUCA.
GeneTreeiENSGT00730000111112.
HOVERGENiHBG003606.
InParanoidiQ07812.
KOiK02159.
OMAiVINWIRE.
OrthoDBiEOG091G0YWR.
PhylomeDBiQ07812.
TreeFamiTF315834.

Family and domain databases

Gene3Di1.10.437.10. 1 hit.
InterProiView protein in InterPro
IPR026304. BAX.
IPR002475. Bcl2-like.
IPR020717. Bcl2_BH1_motif_CS.
IPR020726. Bcl2_BH2_motif_CS.
IPR020728. Bcl2_BH3_motif_CS.
IPR036834. Blc2-like_sf.
IPR026298. Blc2_fam.
PANTHERiPTHR11256. PTHR11256. 1 hit.
PTHR11256:SF42. PTHR11256:SF42. 1 hit.
PfamiView protein in Pfam
PF00452. Bcl-2. 1 hit.
PRINTSiPR01862. BCL2FAMILY.
SUPFAMiSSF56854. SSF56854. 1 hit.
PROSITEiView protein in PROSITE
PS50062. BCL2_FAMILY. 1 hit.
PS01080. BH1. 1 hit.
PS01258. BH2. 1 hit.
PS01259. BH3. 1 hit.

Sequences (8)i

Sequence statusi: Complete.

This entry describes 8 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform Alpha (identifier: Q07812-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MDGSGEQPRG GGPTSSEQIM KTGALLLQGF IQDRAGRMGG EAPELALDPV
60 70 80 90 100
PQDASTKKLS ECLKRIGDEL DSNMELQRMI AAVDTDSPRE VFFRVAADMF
110 120 130 140 150
SDGNFNWGRV VALFYFASKL VLKALCTKVP ELIRTIMGWT LDFLRERLLG
160 170 180 190
WIQDQGGWDG LLSYFGTPTW QTVTIFVAGV LTASLTIWKK MG
Length:192
Mass (Da):21,184
Last modified:February 1, 1995 - v1
Checksum:i6C0CDB0A7DEE4994
GO
Isoform Beta (identifier: Q07812-2) [UniParc] [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     159-192: DGLLSYFGTPTWQTVTIFVAGVLTASLTIWKKMG → VRLLKPPHPH...VVYNAFSLRV

Show »
Length:218
Mass (Da):24,220
Checksum:iF69DCD70F960192F
GO
Isoform Gamma (identifier: Q07812-3) [UniParc] [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     12-41: GPTSSEQIMKTGALLLQGFIQDRAGRMGGE → VSSRIEQGEWGGRHPSWPWTRCLRMRPPRS
     42-192: Missing.

Show »
Length:41
Mass (Da):4,678
Checksum:iD94639AABB927859
GO
Isoform Delta (identifier: Q07812-4) [UniParc] [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     30-78: Missing.

Show »
Length:143
Mass (Da):15,772
Checksum:iBADE4D71D06A75AB
GO
Isoform Epsilon (identifier: Q07812-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     125-192: LCTKVPELIR...ASLTIWKKMG → GVKWRDLGSL...YRPCAPRCRN

Show »
Length:164
Mass (Da):18,129
Checksum:i12CCDB8073EF4C9E
GO
Isoform Zeta (identifier: Q07812-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-78: Missing.

Show »
Length:114
Mass (Da):12,887
Checksum:iA9DAFC5C06E36F4A
GO
Isoform Psi (identifier: Q07812-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-19: Missing.

Show »
Length:173
Mass (Da):19,312
Checksum:i266F3151438B6201
GO
Isoform Sigma (identifier: Q07812-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     159-171: Missing.

Show »
Length:179
Mass (Da):19,718
Checksum:i5802B0AC73B2E4CE
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01357511G → E in a plasmacytoma cell line. 1 PublicationCorresponds to variant dbSNP:rs555248599Ensembl.1
Natural variantiVAR_04705339G → R. Corresponds to variant dbSNP:rs36017265Ensembl.1
Natural variantiVAR_00780967G → R in a T-cell acute lymphoblastic leukemia cell line; loss of heterodimerization with Bcl-2 or Bcl-X(L). 2 PublicationsCorresponds to variant dbSNP:rs398122513Ensembl.1
Natural variantiVAR_013576108G → V in a Burkitt lymphoma; loss of homodimerization. 2 Publications1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0312391 – 78Missing in isoform Zeta. 1 PublicationAdd BLAST78
Alternative sequenceiVSP_0312381 – 19Missing in isoform Psi. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_03123412 – 41GPTSS…RMGGE → VSSRIEQGEWGGRHPSWPWT RCLRMRPPRS in isoform Gamma. 1 PublicationAdd BLAST30
Alternative sequenceiVSP_03123530 – 78Missing in isoform Delta. 1 PublicationAdd BLAST49
Alternative sequenceiVSP_03123642 – 192Missing in isoform Gamma. 1 PublicationAdd BLAST151
Alternative sequenceiVSP_031240125 – 192LCTKV…WKKMG → GVKWRDLGSLQPLPPGFKRF TCLSIPRSWDYRPCAPRCRN in isoform Epsilon. 1 PublicationAdd BLAST68
Alternative sequenceiVSP_031237159 – 192DGLLS…WKKMG → VRLLKPPHPHHRALTTAPAP PSLPPATPLGPWAFWSRSQW CPLPIFRSSDVVYNAFSLRV in isoform Beta. 1 PublicationAdd BLAST34
Alternative sequenceiVSP_037475159 – 171Missing in isoform Sigma. 1 PublicationAdd BLAST13

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L22473 mRNA. Translation: AAA03619.1.
L22474 mRNA. Translation: AAA03620.1.
L22475 mRNA. Translation: AAA03621.1.
U19599 mRNA. Translation: AAC50142.1.
AF007826 mRNA. Translation: AAD22706.1.
AF247393 mRNA. Translation: AAF71267.1.
AJ417988 mRNA. Translation: CAD10744.1.
AF250190 mRNA. Translation: AAF82094.1.
AK291076 mRNA. Translation: BAF83765.1.
AY217036 Genomic DNA. Translation: AAO22992.1.
CH471177 Genomic DNA. Translation: EAW52418.1.
CH471177 Genomic DNA. Translation: EAW52417.1.
BC014175 mRNA. Translation: AAH14175.1.
CCDSiCCDS12742.1. [Q07812-1]
CCDS12743.1. [Q07812-4]
CCDS12744.1. [Q07812-2]
CCDS12745.2. [Q07812-8]
PIRiA47538.
B47538.
C47538.
I38921.
JC7255.
RefSeqiNP_001278357.1. NM_001291428.1.
NP_001278360.1. NM_001291431.1. [Q07812-6]
NP_004315.1. NM_004324.3. [Q07812-2]
NP_620116.1. NM_138761.3. [Q07812-1]
NP_620118.1. NM_138763.3. [Q07812-4]
NP_620119.2. NM_138764.4. [Q07812-8]
XP_016882566.1. XM_017027077.1. [Q07812-7]
UniGeneiHs.624291.

Genome annotation databases

EnsembliENST00000293288; ENSP00000293288; ENSG00000087088. [Q07812-2]
ENST00000345358; ENSP00000263262; ENSG00000087088. [Q07812-1]
ENST00000354470; ENSP00000346461; ENSG00000087088. [Q07812-4]
ENST00000356483; ENSP00000348871; ENSG00000087088. [Q07812-5]
ENST00000415969; ENSP00000389971; ENSG00000087088. [Q07812-8]
ENST00000515540; ENSP00000426328; ENSG00000087088. [Q07812-3]
GeneIDi581.
KEGGihsa:581.
UCSCiuc002plf.2. human. [Q07812-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiBAX_HUMAN
AccessioniPrimary (citable) accession number: Q07812
Secondary accession number(s): A8K4W1
, P55269, Q07814, Q07815, Q8WZ49, Q9NR76, Q9NYG7, Q9UCZ6, Q9UCZ7, Q9UQD6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: February 1, 1995
Last modified: November 22, 2017
This is version 195 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families