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    BAX BCL2 associated X, apoptosis regulator [ Homo sapiens (human) ]

    Gene ID: 581, updated on 17-Jun-2024

    Summary

    Official Symbol
    BAXprovided by HGNC
    Official Full Name
    BCL2 associated X, apoptosis regulatorprovided by HGNC
    Primary source
    HGNC:HGNC:959
    See related
    Ensembl:ENSG00000087088 MIM:600040; AllianceGenome:HGNC:959
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BCL2L4
    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]
    Expression
    Ubiquitous expression in colon (RPKM 24.0), spleen (RPKM 21.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BAX in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (48954875..48961798)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (51949757..51956683)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49458132..49465055)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene nucleobindin 1 Neighboring gene NUCB1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49422347-49422846 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49425993-49426492 Neighboring gene Sharpr-MPRA regulatory region 4424 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49436529-49437030 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49438311-49438870 Neighboring gene dihydrodiol dehydrogenase Neighboring gene Sharpr-MPRA regulatory region 12688 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:49457811-49458379 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49458380-49458947 Neighboring gene CRISPRi-FlowFISH-validated FTL regulatory element 2 Neighboring gene CRISPRi-FlowFISH-validated FTL regulatory element 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10909 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14919 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14920 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49473581-49474108 Neighboring gene CRISPRi-FlowFISH-validated FTL regulatory element 4 Neighboring gene Sharpr-MPRA regulatory region 1809 Neighboring gene ferritin light chain Neighboring gene glycogen synthase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14921 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:49491709-49491891 Neighboring gene skeletal muscle cis-regulatory module in GYS1 intron Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14922 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10910

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    HIV/tuberculosis coinfection upregulates BAX expression in pleural fluid mononuclear cells (PFMC) isolated from antiretroviral-naive coinfected patients (relative to patients infected with only tuberculosis) PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env PDGF protects neurons from gp120-induced cytotoxicity through an increased phosphorylation of both GSK-3beta and Bad, the downregulation of the proapoptotic protein Bax, and inhibition of gp120-induced release of mitochondrial cytochrome C PubMed
    env The combinatorial toxicity of cocaine and gp120 is accompanied by an increase in both caspase-3 activity and expression of the proapoptotic protein Bax in HIV-associated neuropathological disorders PubMed
    env Syncytial apoptosis mediated by the fusion of cells expressing HIV-1 gp120 with cells expressing the CD4/CXCR4 receptor/coreceptor complex causes phosphorylation of p53 on serine 15 and Bax upregulation PubMed
    env Induction of apoptosis in cell cultures through binding of HIV-1 gp120 or gp160 to CXCR4 involves protein kinase C, basic fibroblast growth factor, caspase-3, and the pro-apoptotic molecule Bax PubMed
    Tat tat HIV-1 Tat induces apoptosis of human brain microvascular endothelial cells (HBMECs) by downregulation of BCL2 and upregulation of BAX and COX6B1 (cytochrome c) PubMed
    tat HIV-1 Tat-induced apoptosis through increased expression of anti-apoptotic protein Bcl-2, proapoptotic protein Bax and activation of caspases CASP3 and CASP9 is inhibited by estrogen receptor beta (ER)-mediated estrogen treatment PubMed
    tat Expression of HIV-1 Tat in hematopoietic cells results in downregulation of Bcl-2 and upregulation of Bax, resulting in the induction of apoptosis PubMed
    tat PDGF-BB protects neurons against HIV-1 Tat and morphine-induced apoptosis by promoting Bcl2 and inhibiting Bax expression PubMed
    tat HIV-1 Tat inhibits SIRT1 and increases acetylation of p53, which leads to activation of p21 and BAX in HeLa-CD4+ cells PubMed
    tat HIV-1 Tat-induced Bax activation requires the presence of either p53 or p73 transcription factor in neuronal cells PubMed
    tat HIV-1 Tat upregulates the expression of BAX in Kaposi's sarcoma cells PubMed
    tat Tumor protein p73 interferes with Tat-mediated apoptosis by preventing the up-regulation of Bax and down-regulation of Bcl-2 proteins in astrocytes PubMed
    Vpr vpr HIV-1 Vpr-mediated apoptosis and mitochondrial depolarization are dependent on BAX activation in THP-1 cells PubMed
    vpr HIV-1 Vpr induces downregulation of the Bcl-xl protein, upregulation of the Bax protein, and the cytochrome c release from the mitochondria in multidrug-resistant human colorectal cancer cells PubMed
    vpr HIV-1 Vpr-induced apoptosis is mediated via Bax, downstream of ATR activation PubMed
    vpr Mice transgenic for the HIV-1 vpr gene have enhanced apoptotic death of T lymphocytes with up-regulation of Bax suggesting the involvement of Bax in the apoptotic processes PubMed
    vpr Constitutive expression of HIV-1 Vpr in Jurkat cells resulted in downregulation of Bax, suggesting Vpr is a negative regulator of apoptosis PubMed
    vpr HIV-1 Vpr induction of mitochondrial membrane permeabilization through binding to adenine nucleotide translocator (ANT) is enhanced by Bax PubMed
    Vpu vpu HIV-1 Vpu upregulates Bax in Vpu-expressing cells. Vpu-mediated p53 accumulation results in promoting Bax-mediated apoptosis PubMed
    retropepsin gag-pol HIV-1 PR interacts with mitochondrial proteins VDAC, cytochrome c, TOM22, and Bax in HeLa cells PubMed
    gag-pol HIV-1 PR cleaves Bax in a dose-dependent manner in HEK293 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables BH domain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables BH3 domain binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables BH3 domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables Hsp70 protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables lipid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in B cell apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in B cell homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in B cell homeostatic proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in B cell negative selection IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in B cell receptor apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in Sertoli cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in T cell homeostatic proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in apoptotic mitochondrial changes IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in apoptotic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in apoptotic process involved in blood vessel morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in apoptotic process involved in embryonic digit morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in apoptotic process involved in mammary gland involution IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in blood vessel remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in calcium ion transport into cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to UV IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to unfolded protein TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cellular response to virus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cerebral cortex development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in development of secondary sexual characteristics IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ectopic germ cell programmed cell death IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endoplasmic reticulum calcium ion homeostasis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in epithelial cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment or maintenance of transmembrane electrochemical gradient IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in execution phase of apoptosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in extrinsic apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in extrinsic apoptotic signaling pathway in absence of ligand IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in extrinsic apoptotic signaling pathway via death domain receptors IC
    Inferred by Curator
    more info
    PubMed 
    involved_in fertilization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in germ cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glycosphingolipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in homeostasis of number of cells within a tissue IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hypothalamus development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intrinsic apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in intrinsic apoptotic signaling pathway by p53 class mediator IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intrinsic apoptotic signaling pathway in response to DNA damage IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intrinsic apoptotic signaling pathway in response to DNA damage IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress IMP
    Inferred from Mutant Phenotype
    more info
     
    involved_in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in kidney development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitochondrial fragmentation involved in apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in mitochondrial fusion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitochondrial fusion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in motor neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in myeloid cell homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of endoplasmic reticulum calcium ion concentration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of fibroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of mitochondrial membrane potential IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of peptidyl-serine phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neuron migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in odontogenesis of dentin-containing tooth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ovarian follicle development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of B cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of IRE1-mediated unfolded protein response TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of apoptotic DNA fragmentation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of apoptotic process involved in mammary gland involution IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of calcium ion transport into cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of developmental pigmentation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of endoplasmic reticulum unfolded protein response IMP
    Inferred from Mutant Phenotype
    more info
     
    involved_in positive regulation of epithelial cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of intrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of mitochondrial membrane permeability involved in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of motor neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of neuron apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein-containing complex assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of release of cytochrome c from mitochondria IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of release of cytochrome c from mitochondria IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of release of sequestered calcium ion into cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of reproductive process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in post-embryonic camera-type eye morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein insertion into mitochondrial membrane IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of mammary gland epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of mitochondrial membrane permeability involved in programmed necrotic cell death IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of mitochondrial membrane potential IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of nitrogen utilization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in release of cytochrome c from mitochondria IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in release of cytochrome c from mitochondria IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in release of matrix enzymes from mitochondria IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in release of sequestered calcium ion into cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to axon injury IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to gamma radiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to salt stress IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to toxic substance IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in retina development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retinal cell programmed cell death IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in spermatid differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in supramolecular fiber organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in thymocyte apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vagina development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of BAK complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of BAX complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of Bcl-2 family protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with cell periphery IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in membrane HDA PubMed 
    is_active_in mitochondrial outer membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
     
    part_of mitochondrial permeability transition pore complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    part_of pore complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    apoptosis regulator BAX
    Names
    BCL2 associated X protein
    BCL2-associated X protein omega
    Baxdelta2(G8)-RFS protein
    Baxdelta2G9
    Baxdelta2G9omega
    Baxdelta2omega
    bcl-2-like protein 4
    bcl2-L-4

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012191.1 RefSeqGene

      Range
      5016..11939
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001291428.2NP_001278357.1  apoptosis regulator BAX isoform 1

      See identical proteins and their annotated locations for NP_001278357.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AI565203, AK291076, BE396495, BM673184, CN281003
      UniProtKB/TrEMBL
      A0A0C4MVT1
      Conserved Domains (2) summary
      cd06845
      Location:25158
      Bcl-2_like; Apoptosis regulator proteins of the Bcl-2 family, named after B-cell lymphoma 2. This alignment model spans what have been described as Bcl-2 homology regions BH1, BH2, BH3, and BH4. Many members of this family have an additional C-terminal transmembrane ...
      TIGR00865
      Location:5182
      bcl-2; apoptosis regulator
    2. NM_001291429.2NP_001278358.1  apoptosis regulator BAX isoform gamma

      Status: REVIEWED

      Description
      Transcript Variant: This variant (gamma) lacks an exon in the 5' region which causes translation initiation at a downstream start codon, and differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (gamma) has a shorter N-terminus and a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC026803, AJ586910, BE396495, BM706954
      UniProtKB/TrEMBL
      Q5ZPJ0
      Conserved Domains (2) summary
      cd06845
      Location:6126
      Bcl-2_like; Apoptosis regulator proteins of the Bcl-2 family, named after B-cell lymphoma 2. This alignment model spans what have been described as Bcl-2 homology regions BH1, BH2, BH3, and BH4. Many members of this family have an additional C-terminal transmembrane ...
      TIGR00865
      Location:1135
      bcl-2; apoptosis regulator
    3. NM_001291430.2NP_001278359.1  apoptosis regulator BAX isoform lambda

      See identical proteins and their annotated locations for NP_001278359.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (lambda) lacks two consecutive exons in the 5' region which causes translation initiation at a downstream start codon, and differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (lambda) has a shorter N-terminus and a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC026803, AJ586909, BE396495, BM706954
      Consensus CDS
      CCDS77327.1
      UniProtKB/TrEMBL
      I6LPK7, Q5ZPJ1
      Related
      ENSP00000441413.2, ENST00000539787.2
      Conserved Domains (1) summary
      cd06845
      Location:585
      Bcl-2_like; Apoptosis regulator proteins of the Bcl-2 family, named after B-cell lymphoma 2. This alignment model spans what have been described as Bcl-2 homology regions BH1, BH2, BH3, and BH4. Many members of this family have an additional C-terminal transmembrane ...
    4. NM_001291431.2NP_001278360.1  apoptosis regulator BAX isoform zeta

      See identical proteins and their annotated locations for NP_001278360.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (zeta) lacks two consecutive exons in the 5' region which causes translation initiation at a downstream start codon, and has an alternate splice site in the 3' coding region which causes a frame-shift, compared to variant 1. The resulting isoform (zeta) has a shorter N-terminus and a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AF250190, AI565203, AK291076, BE396495
      UniProtKB/TrEMBL
      H0YA56
      Related
      ENSP00000426184.1, ENST00000506183.5
      Conserved Domains (1) summary
      TIGR00865
      Location:1114
      bcl-2; apoptosis regulator
    5. NM_004324.4NP_004315.1  apoptosis regulator BAX isoform beta

      See identical proteins and their annotated locations for NP_004315.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (beta) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (beta) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC026803, BC014175, BE396495, BM706954, T29044
      Consensus CDS
      CCDS12744.1
      UniProtKB/Swiss-Prot
      Q07812
      Related
      ENSP00000293288.8, ENST00000293288.12
      Conserved Domains (1) summary
      TIGR00865
      Location:5172
      bcl-2; apoptosis regulator
    6. NM_138761.4NP_620116.1  apoptosis regulator BAX isoform alpha

      See identical proteins and their annotated locations for NP_620116.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (alpha) has an alternate splice site in the 3' coding region which causes a frame-shift, compared to variant 1. The resulting isoform (alpha, also known as psi) has a shorter and different C terminus, compared to isoform 1.
      Source sequence(s)
      AI565203, BC014175, BE396495
      Consensus CDS
      CCDS12742.1
      UniProtKB/Swiss-Prot
      A8K4W1, P55269, Q07812, Q07814, Q07815, Q8WZ49, Q9NR76, Q9NYG7, Q9UCZ6, Q9UCZ7, Q9UQD6
      UniProtKB/TrEMBL
      A0A0C4MW46
      Related
      ENSP00000263262.9, ENST00000345358.12
      Conserved Domains (1) summary
      TIGR00865
      Location:5192
      bcl-2; apoptosis regulator
    7. NM_138763.4NP_620118.1  apoptosis regulator BAX isoform delta

      See identical proteins and their annotated locations for NP_620118.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (delta) lacks an in-frame exon in the 5' coding region and has an alternate splice site in the 3' coding region which causes a frame-shift, compared to variant 1. The resulting isoform (delta) lacks an internal segment in the N-terminal region and has a shorter and different C terminus, compared to isoform 1.
      Source sequence(s)
      AI565203, BC014175, BE396495
      Consensus CDS
      CCDS12743.1
      UniProtKB/TrEMBL
      H0YA56
      Related
      ENSP00000346461.3, ENST00000354470.7
      Conserved Domains (1) summary
      TIGR00865
      Location:5143
      bcl-2; apoptosis regulator
    8. NM_138764.5NP_620119.2  apoptosis regulator BAX isoform sigma

      See identical proteins and their annotated locations for NP_620119.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (sigma) has an alternate splice site in the 3' coding region which causes a frame-shift, compared to variant 1. The resulting isoform (sigma) has a shorter and different C terminus, compared to isoform 1.
      Source sequence(s)
      AI565203, BC014175, BE396495
      Consensus CDS
      CCDS12745.2
      UniProtKB/TrEMBL
      A0A0C4MW46
      Related
      ENSP00000389971.2, ENST00000415969.6
      Conserved Domains (1) summary
      TIGR00865
      Location:5179
      bcl-2; apoptosis regulator

    RNA

    1. NR_027882.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (epsilon) contains an additional internal exon and has an alternate splice site in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF007826, AI565203, BC014175, BE396495

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      48954875..48961798
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439168.1XP_047295124.1  apoptosis regulator BAX isoform X1

      UniProtKB/TrEMBL
      A0A0C4MWS3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      51949757..51956683
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_138762.2: Suppressed sequence

      Description
      NM_138762.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.