[1]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS ALPHA; BETA AND GAMMA), FUNCTION, SUBUNIT, AND SUBCELLULAR LOCATION.
TISSUE=B-cell;
DOI=10.1016/0092-8674(93)90509-O; PubMed=8358790 [NCBI, ExPASy, EBI, Israel, Japan]
Oltvai Z.N.,
Milliman C.L.,
Korsmeyer S.J.;
"Bcl-2 heterodimerizes in vivo with a conserved homolog, Bax, that accelerates programmed cell death.";
Cell 74:609-619(1993).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM DELTA).
DOI=10.1016/0888-7543(95)80180-T; PubMed=7607685 [NCBI, ExPASy, EBI, Israel, Japan]
Apte S.S.,
Mattei M.-G.,
Olsen B.R.;
"Mapping of the human BAX gene to chromosome 19q13.3-q13.4 and isolation of a novel alternatively spliced transcript, BAX delta.";
Genomics 26:592-594(1995).
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[3]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM EPSILON).
TISSUE=Brain;
DOI=10.1006/bbrc.1998.0130; PubMed=9920818 [NCBI, ExPASy, EBI, Israel, Japan]
Shi B.,
Triebe D.,
Kajiji S.,
Iwata K.K.,
Bruskin A.,
Mahajna J.;
"Identification and characterization of baxepsilon, a novel bax variant missing the BH2 and the transmembrane domains.";
Biochem. Biophys. Res. Commun. 254:779-785(1999).
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[4]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS ALPHA AND SIGMA), FUNCTION, INTERACTION WITH BCL2A1 AND BCL2L1, AND TISSUE SPECIFICITY.
DOI=10.1006/bbrc.2000.2537; PubMed=10772918 [NCBI, ExPASy, EBI, Israel, Japan]
Schmitt E.,
Paquet C.,
Beauchemin M.,
Dever-Bertrand J.,
Bertrand R.;
"Characterization of Bax-sigma, a cell death-inducing isoform of Bax.";
Biochem. Biophys. Res. Commun. 270:868-879(2000).
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[5]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM PSI), AND TISSUE SPECIFICITY.
DOI=10.1093/hmg/11.6.675; PubMed=11912183 [NCBI, ExPASy, EBI, Israel, Japan]
Cartron P.F.,
Oliver L.,
Martin S.,
Moreau C.,
LeCabellec M.T.,
Jezequel P.,
Meflah K.,
Vallette F.M.;
"The expression of a new variant of the pro-apoptotic molecule Bax, Baxpsi, is correlated with an increased survival of glioblastoma multiforme patients.";
Hum. Mol. Genet. 11:675-687(2002).
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[6]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM ZETA).
TISSUE=Ovarian carcinoma;
Perez R.P.,
Sanville H.;
"Bax mRNA splice variant lacking exons 2 and 3.";
Submitted (MAR-2000) to the EMBL/GenBank/DDBJ databases.
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[7]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM ALPHA).
DOI=10.1038/ng1285; PubMed=14702039 [NCBI, ExPASy, EBI, Israel, Japan]
Ota T.,
Suzuki Y.,
Nishikawa T.,
Otsuki T.,
Sugiyama T.,
Irie R.,
Wakamatsu A.,
Hayashi K.,
Sato H.,
Nagai K.,
Kimura K.,
Makita H.,
Sekine M.,
Obayashi M.,
Nishi T.,
Shibahara T.,
Tanaka T.,
Ishii S.,
Yamamoto J., ![]()
Saito K.,
Kawai Y.,
Isono Y.,
Nakamura Y.,
Nagahari K.,
Murakami K.,
Yasuda T.,
Iwayanagi T.,
Wagatsuma M.,
Shiratori A.,
Sudo H.,
Hosoiri T.,
Kaku Y.,
Kodaira H.,
Kondo H.,
Sugawara M.,
Takahashi M.,
Kanda K.,
Yokoi T.,
Furuya T.,
Kikkawa E.,
Omura Y.,
Abe K.,
Kamihara K.,
Katsuta N.,
Sato K.,
Tanikawa M.,
Yamazaki M.,
Ninomiya K.,
Ishibashi T.,
Yamashita H.,
Murakawa K.,
Fujimori K.,
Tanai H.,
Kimata M.,
Watanabe M.,
Hiraoka S.,
Chiba Y.,
Ishida S.,
Ono Y.,
Takiguchi S.,
Watanabe S.,
Yosida M.,
Hotuta T.,
Kusano J.,
Kanehori K.,
Takahashi-Fujii A.,
Hara H.,
Tanase T.-O.,
Nomura Y.,
Togiya S.,
Komai F.,
Hara R.,
Takeuchi K.,
Arita M.,
Imose N.,
Musashino K.,
Yuuki H.,
Oshima A.,
Sasaki N.,
Aotsuka S.,
Yoshikawa Y.,
Matsunawa H.,
Ichihara T.,
Shiohata N.,
Sano S.,
Moriya S.,
Momiyama H.,
Satoh N.,
Takami S.,
Terashima Y.,
Suzuki O.,
Nakagawa S.,
Senoh A.,
Mizoguchi H.,
Goto Y.,
Shimizu F.,
Wakebe H.,
Hishigaki H.,
Watanabe T.,
Sugiyama A.,
Takemoto M.,
Kawakami B.,
Yamazaki M.,
Watanabe K.,
Kumagai A.,
Itakura S.,
Fukuzumi Y.,
Fujimori Y.,
Komiyama M.,
Tashiro H.,
Tanigami A.,
Fujiwara T.,
Ono T.,
Yamada K.,
Fujii Y.,
Ozaki K.,
Hirao M.,
Ohmori Y.,
Kawabata A.,
Hikiji T.,
Kobatake N.,
Inagaki H.,
Ikema Y.,
Okamoto S.,
Okitani R.,
Kawakami T.,
Noguchi S.,
Itoh T.,
Shigeta K.,
Senba T.,
Matsumura K.,
Nakajima Y.,
Mizuno T.,
Morinaga M.,
Sasaki M.,
Togashi T.,
Oyama M.,
Hata H.,
Watanabe M.,
Komatsu T.,
Mizushima-Sugano J.,
Satoh T.,
Shirai Y.,
Takahashi Y.,
Nakagawa K.,
Okumura K.,
Nagase T.,
Nomura N.,
Kikuchi H.,
Masuho Y.,
Yamashita R.,
Nakai K.,
Yada T.,
Nakamura Y.,
Ohara O.,
Isogai T.,
Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human cDNAs.";
Nat. Genet. 36:40-45(2004).
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[8]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
NIEHS SNPs program;
Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases.
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[9]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J.,
Istrail S.,
Sutton G.G.,
Florea L.,
Halpern A.L.,
Mobarry C.M.,
Lippert R.,
Walenz B.,
Shatkay H.,
Dew I.,
Miller J.R.,
Flanigan M.J.,
Edwards N.J.,
Bolanos R.,
Fasulo D.,
Halldorsson B.V.,
Hannenhalli S.,
Turner R.,
Yooseph S., ![]()
Lu F.,
Nusskern D.R.,
Shue B.C.,
Zheng X.H.,
Zhong F.,
Delcher A.L.,
Huson D.H.,
Kravitz S.A.,
Mouchard L.,
Reinert K.,
Remington K.A.,
Clark A.G.,
Waterman M.S.,
Eichler E.E.,
Adams M.D.,
Hunkapiller M.W.,
Myers E.W.,
Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
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[10]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM ALPHA).
TISSUE=Skin;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[11]
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NUCLEOTIDE SEQUENCE [MRNA] OF 63-77 AND 98-118, AND VARIANTS ARG-67 AND VAL-108.
PubMed=7475270 [NCBI, ExPASy, EBI, Israel, Japan]
Meijerink J.P.P.,
Smetsers T.F.C.M.,
Sloetjes A.W.,
Linders E.H.P.,
Mensink E.J.B.M.;
"Bax mutations in cell lines derived from hematological malignancies.";
Leukemia 9:1828-1832(1995).
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[12]
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MUTAGENESIS, AND FUNCTION OF BH3 MOTIF.
PubMed=8521816 [NCBI, ExPASy, EBI, Israel, Japan]
Chittenden T.,
Flemington C.,
Houghton A.B.,
Ebb R.G.,
Gallo G.J.,
Elangovan B.,
Chinnadurai G.,
Lutz R.J.;
"A conserved domain in Bak, distinct from BH1 and BH2, mediates cell death and protein binding functions.";
EMBO J. 14:5589-5596(1995).
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[13]
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SUBCELLULAR LOCATION, AND MUTAGENESIS OF SER-184.
DOI=10.1093/emboj/18.9.2330; PubMed=10228148 [NCBI, ExPASy, EBI, Israel, Japan]
Nechushtan A.,
Smith C.L.,
Hsu Y.-T.,
Youle R.J.;
"Conformation of the Bax C-terminus regulates subcellular location and cell death.";
EMBO J. 18:2330-2341(1999).
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[14]
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INTERACTION WITH SH3GLB1.
DOI=10.1074/jbc.M101527200; PubMed=11259440 [NCBI, ExPASy, EBI, Israel, Japan]
Cuddeback S.M.,
Yamaguchi H.,
Komatsu K.,
Miyashita T.,
Yamada M.,
Wu C.,
Singh S.,
Wang H.-G.;
"Molecular cloning and characterization of Bif-1. A novel Src homology 3 domain-containing protein that associates with Bax.";
J. Biol. Chem. 276:20559-20565(2001).
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[15]
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INTERACTION WITH HN.
DOI=10.1038/nature01627; PubMed=12732850 [NCBI, ExPASy, EBI, Israel, Japan]
Guo B.,
Zhai D.,
Cabezas E.,
Welsh K.,
Nouraini S.,
Satterthwait A.C.,
Reed J.C.;
"Humanin peptide suppresses apoptosis by interfering with Bax activation.";
Nature 423:456-461(2003).
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[16]
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INTERACTION WITH SFN AND YWHAZ, AND SUBCELLULAR LOCATION.
DOI=10.1038/sj.emboj.7600194; PubMed=15071501 [NCBI, ExPASy, EBI, Israel, Japan]
Tsuruta F.,
Sunayama J.,
Mori Y.,
Hattori S.,
Shimizu S.,
Tsujimoto Y.,
Yoshioka K.,
Masuyama N.,
Gotoh Y.;
"JNK promotes Bax translocation to mitochondria through phosphorylation of 14-3-3 proteins.";
EMBO J. 23:1889-1899(2004).
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[17]
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IDENTIFICATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
Colinge J.,
Superti-Furga G.,
Bennett K.L.;
Submitted (OCT-2008) to UniProtKB.
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[18]
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STRUCTURE BY NMR, SUBCELLULAR LOCATION, AND SUBUNIT.
DOI=10.1016/S0092-8674(00)00167-7; PubMed=11106734 [NCBI, ExPASy, EBI, Israel, Japan]
Suzuki M.,
Youle R.J.,
Tjandra N.;
"Structure of Bax: coregulation of dimer formation and intracellular localization.";
Cell 103:645-654(2000).
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[19]
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X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 13-19 IN COMPLEX WITH ANTIBODY FRAGMENT.
DOI=10.1038/sj.cdd.4402025; PubMed=16946732 [NCBI, ExPASy, EBI, Israel, Japan]
Peyerl F.W.,
Dai S.,
Murphy G.A.,
Crawford F.,
White J.,
Marrack P.,
Kappler J.W.;
"Elucidation of some Bax conformational changes through crystallization of an antibody-peptide complex.";
Cell Death Differ. 14:447-452(2007).
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[20]
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VARIANT PLASMACYTOMA GLU-11, VARIANT T-CELL ACUTE LYMPHOBLASTIC LEUKEMIA ARG-67, AND VARIANT BURKITT LYMPHOMA VAL-108.
PubMed=9531611 [NCBI, ExPASy, EBI, Israel, Japan]
Meijerink J.P.P.,
Mensink E.J.B.M.,
Wang K.,
Sedlak T.W.,
Sloetjes A.W.,
de Witte T.,
Waksman G.,
Korsmeyer S.J.;
"Hematopoietic malignancies demonstrate loss-of-function mutations of BAX.";
Blood 91:2991-2997(1998).
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- FUNCTION: Accelerates programmed cell death by binding to, and antagonizing the apoptosis repressor BCL2 or its adenovirus homolog E1B 19k protein. Induces the release of cytochrome c, activation of CASP3, and thereby apoptosis.
- SUBUNIT: Homodimer. Forms heterodimers with BCL2, E1B 19K protein, BCL2L1 isoform Bcl-X(L), 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).
- INTERACTION:
Self; NbExp=4; IntAct=EBI-516580, EBI-516580;
Q16611:BAK1; NbExp=1; IntAct=EBI-516580, EBI-519866;
P10415:BCL2; NbExp=2; IntAct=EBI-516580, EBI-77694;
Q07817:BCL2L1; NbExp=1; IntAct=EBI-516580, EBI-78035;
Q07817-1:BCL2L1; NbExp=2; IntAct=EBI-516580, EBI-287195;
Q02156:PRKCE; NbExp=1; IntAct=EBI-516580, EBI-706254;
P24391:tom-40 (xeno); NbExp=1; IntAct=EBI-516580, EBI-1791540;
- SUBCELLULAR LOCATION: Isoform Alpha: Mitochondrion membrane; Single-pass membrane protein. Cytoplasm. Note=Colocalizes with 14-3-3 proteins in the cytoplasm. Under stress conditions, redistributes to the mitochondrion membrane through the release from JNK-phosphorylated 14-3-3 proteins.
- SUBCELLULAR LOCATION: Isoform Beta: Cytoplasm.
- SUBCELLULAR LOCATION: Isoform Gamma: Cytoplasm.
- SUBCELLULAR LOCATION: Isoform Delta: Cytoplasm (Potential).
- ALTERNATIVE PRODUCTS:
8 named isoforms [FASTA] produced by alternative splicing.
| | | |
| Name | Epsilon |
| Isoform ID | Q07812-5 |
| Features which should be applied to build the isoform sequence: VSP_031240. |
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| Name | Zeta |
| Isoform ID | Q07812-6 |
| Features which should be applied to build the isoform sequence: VSP_031239. |
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| Name | Psi |
| Isoform ID | Q07812-7 |
| Features which should be applied to build the isoform sequence: VSP_031238. |
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| Name | Sigma |
| Isoform ID | Q07812-8 |
| Features which should be applied to build the isoform sequence: VSP_037475. |
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- 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, histyocytic 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).
- DISEASE: Defects in BAX are found in some cell lines from hematopoietic malignancies as T-cell acute lymphoblastic leukemia, Burkitt lymphoma, and plasmacytoma.
- SIMILARITY: Belongs to the Bcl-2 family.
- WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/bax/";.
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