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

Gene ID: 581, updated on 25-Oct-2020

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
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

Genomic context

See BAX in Genome Data Viewer
Location:
19q13.33
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (48954825..48961798)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49458117..49465055)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene dihydrodiol dehydrogenase Neighboring gene Sharpr-MPRA regulatory region 12688 Neighboring gene ferritin light chain Neighboring gene glycogen synthase 1 Neighboring gene Sharpr-MPRA regulatory region 1809

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
BH3 domain binding IDA
Inferred from Direct Assay
more info
PubMed 
BH3 domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
Hsp70 protein binding IEA
Inferred from Electronic Annotation
more info
 
channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
channel activity IDA
Inferred from Direct Assay
more info
PubMed 
chaperone binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
lipid binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
B cell apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
B cell homeostasis IEA
Inferred from Electronic Annotation
more info
 
B cell homeostatic proliferation IEA
Inferred from Electronic Annotation
more info
 
B cell negative selection IEA
Inferred from Electronic Annotation
more info
 
B cell receptor apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest TAS
Traceable Author Statement
more info
 
Sertoli cell proliferation IEA
Inferred from Electronic Annotation
more info
 
T cell homeostatic proliferation IEA
Inferred from Electronic Annotation
more info
 
activation of cysteine-type endopeptidase activity involved in apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
activation of cysteine-type endopeptidase activity involved in apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c IDA
Inferred from Direct Assay
more info
PubMed 
activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
 
apoptotic mitochondrial changes IDA
Inferred from Direct Assay
more info
PubMed 
apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
apoptotic process NAS
Non-traceable Author Statement
more info
PubMed 
apoptotic process involved in blood vessel morphogenesis IEA
Inferred from Electronic Annotation
more info
 
apoptotic process involved in embryonic digit morphogenesis IEA
Inferred from Electronic Annotation
more info
 
apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
blood vessel remodeling IEA
Inferred from Electronic Annotation
more info
 
cellular response to UV IEA
Inferred from Electronic Annotation
more info
 
cellular response to unfolded protein TAS
Traceable Author Statement
more info
PubMed 
cerebral cortex development IEA
Inferred from Electronic Annotation
more info
 
development of secondary sexual characteristics IEA
Inferred from Electronic Annotation
more info
 
ectopic germ cell programmed cell death IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum calcium ion homeostasis TAS
Traceable Author Statement
more info
PubMed 
establishment or maintenance of transmembrane electrochemical gradient IDA
Inferred from Direct Assay
more info
PubMed 
extrinsic apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
extrinsic apoptotic signaling pathway in absence of ligand IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extrinsic apoptotic signaling pathway via death domain receptors IC
Inferred by Curator
more info
PubMed 
fertilization IEA
Inferred from Electronic Annotation
more info
 
germ cell development IEA
Inferred from Electronic Annotation
more info
 
glycosphingolipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
homeostasis of number of cells within a tissue IEA
Inferred from Electronic Annotation
more info
 
hypothalamus development IEA
Inferred from Electronic Annotation
more info
 
intrinsic apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
intrinsic apoptotic signaling pathway by p53 class mediator IEA
Inferred from Electronic Annotation
more info
 
intrinsic apoptotic signaling pathway in response to DNA damage IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress TAS
Traceable Author Statement
more info
PubMed 
kidney development IEA
Inferred from Electronic Annotation
more info
 
mitochondrial fragmentation involved in apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial fusion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial fusion IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion morphogenesis IEA
Inferred from Electronic Annotation
more info
 
myeloid cell homeostasis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
 
negative regulation of endoplasmic reticulum calcium ion concentration IEA
Inferred from Electronic Annotation
more info
 
negative regulation of fibroblast proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of mitochondrial membrane potential IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of peptidyl-serine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein binding IDA
Inferred from Direct Assay
more info
PubMed 
neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
neuron migration IEA
Inferred from Electronic Annotation
more info
 
odontogenesis of dentin-containing tooth IEA
Inferred from Electronic Annotation
more info
 
ovarian follicle development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of B cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of IRE1-mediated unfolded protein response TAS
Traceable Author Statement
more info
PubMed 
positive regulation of apoptotic DNA fragmentation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of apoptotic process involved in mammary gland involution IEA
Inferred from Electronic Annotation
more info
 
positive regulation of developmental pigmentation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of endoplasmic reticulum unfolded protein response IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of intrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway TAS
Traceable Author Statement
more info
 
positive regulation of neuron apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of release of cytochrome c from mitochondria IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of release of cytochrome c from mitochondria IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of release of sequestered calcium ion into cytosol IEA
Inferred from Electronic Annotation
more info
 
post-embryonic camera-type eye morphogenesis IEA
Inferred from Electronic Annotation
more info
 
protein insertion into mitochondrial membrane involved in apoptotic signaling pathway TAS
Traceable Author Statement
more info
 
regulation of apoptotic process TAS
Traceable Author Statement
more info
 
regulation of mammary gland epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
regulation of mitochondrial membrane permeability involved in programmed necrotic cell death IEA
Inferred from Electronic Annotation
more info
 
regulation of mitochondrial membrane potential IDA
Inferred from Direct Assay
more info
PubMed 
regulation of nitrogen utilization IEA
Inferred from Electronic Annotation
more info
 
release of cytochrome c from mitochondria IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
release of cytochrome c from mitochondria IDA
Inferred from Direct Assay
more info
PubMed 
release of matrix enzymes from mitochondria IDA
Inferred from Direct Assay
more info
PubMed 
response to axon injury IEA
Inferred from Electronic Annotation
more info
 
response to gamma radiation IEA
Inferred from Electronic Annotation
more info
 
response to salt stress IEA
Inferred from Electronic Annotation
more info
 
response to toxic substance IDA
Inferred from Direct Assay
more info
PubMed 
retina development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
retinal cell programmed cell death IEA
Inferred from Electronic Annotation
more info
 
spermatid differentiation IEA
Inferred from Electronic Annotation
more info
 
thymocyte apoptotic process IEA
Inferred from Electronic Annotation
more info
 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
vagina development IEA
Inferred from Electronic Annotation
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
BAK complex IDA
Inferred from Direct Assay
more info
PubMed 
BAX complex IDA
Inferred from Direct Assay
more info
PubMed 
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 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
membrane HDA PubMed 
mitochondrial outer membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial outer membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial outer membrane TAS
Traceable Author Statement
more info
 
mitochondrial permeability transition pore complex IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
nuclear envelope IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
Baxdelta2G9
Baxdelta2G9omega
Baxdelta2omega
bcl-2-like protein 4
bcl2-L-4

NCBI Reference Sequences (RefSeq)

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/Swiss-Prot
    Q07812
    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/Swiss-Prot
    Q07812
    Related
    ENSP00000426184.1, ENST00000506183.5
    Conserved Domains (2) summary
    cd06845
    Location:586
    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: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 (2) summary
    cd06845
    Location:25163
    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: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
    Q07812
    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/Swiss-Prot
    Q07812
    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/Swiss-Prot
    Q07812
    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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    48954825..48961798
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027077.1XP_016882566.1  apoptosis regulator BAX isoform X1

    UniProtKB/Swiss-Prot
    Q07812
    Conserved Domains (1) summary
    TIGR00865
    Location:1173
    bcl-2; apoptosis regulator

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.
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