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

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: mouse all
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Genomic context

Location:: 19q13.33

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (48954875..48961798)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (51949757..51956683)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (49458132..49465055)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Sequence differences between BAX and BAK core domains manifest as differences in their interactions with lipids.
Title: Sequence differences between BAX and BAK core domains manifest as differences in their interactions with lipids.
Lipid unsaturation promotes BAX and BAK pore activity during apoptosis.
Title: Lipid unsaturation promotes BAX and BAK pore activity during apoptosis.
Endogenous BAX and BAK form mosaic rings of variable size and composition on apoptotic mitochondria.
Title: Endogenous BAX and BAK form mosaic rings of variable size and composition on apoptotic mitochondria.
Splicing Factor PQBP1 Curtails BAX Expression to Promote Ovarian Cancer Progression.
Title: Splicing Factor PQBP1 Curtails BAX Expression to Promote Ovarian Cancer Progression.
Cell-specific modulation of mitochondrial respiration and metabolism by the pro-apoptotic Bcl-2 family members Bax and Bak.
Title: Cell-specific modulation of mitochondrial respiration and metabolism by the pro-apoptotic Bcl-2 family members Bax and Bak.
Value of Bax and Bcl2 expression in peripheral blood mononuclear cells for clinical prognosis of patients with chronic heart failure.
Title: Value of Bax and Bcl2 expression in peripheral blood mononuclear cells for clinical prognosis of patients with chronic heart failure.
Analysis of the Polymorphisms and Expression Levels of the BCL2, BAX and c-MYC Genes in Patients with Ovarian Cancer.
Title: Analysis of the Polymorphisms and Expression Levels of the BCL2, BAX and c-MYC Genes in Patients with Ovarian Cancer.
[Overexpression of miR-431-5p impairs mitochondrial function and induces apoptosis in gastric cancer cells via the Bax/Bcl-2/caspase3 pathway].
Title: [Overexpression of miR-431-5p impairs mitochondrial function and induces apoptosis in gastric cancer cells via the Bax/Bcl-2/caspase3 pathway].
Dual targeting of BCL-2 and MCL-1 in the presence of BAX breaks venetoclax resistance in human small cell lung cancer.
Title: Dual targeting of BCL-2 and MCL-1 in the presence of BAX breaks venetoclax resistance in human small cell lung cancer.
Expression profile of the proapoptotic protein Bax in the human brain.
Title: Expression profile of the proapoptotic protein Bax in the human brain.

Submit: New GeneRIF Correction See all GeneRIFs (838)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Acute lymphoid leukemia MedGen: C0023449 OMIM: 613065 GeneReviews: Not available	not available
Colorectal cancer MedGen: C0346629 OMIM: 114500 GeneReviews: Lynch Syndrome	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH47233 (e-PCR)
- UniSTS:35847

GDB:632822 (e-PCR)
- UniSTS:158495

G67254 (e-PCR)
- UniSTS:186419

G67255 (e-PCR)
- UniSTS:186420

PMC230316P5 (e-PCR)
- UniSTS:272183

BARC0009 (e-PCR)
- UniSTS:255299

SHGC-156277 (e-PCR)
- UniSTS:183222

PMC114802P1 (e-PCR)
- UniSTS:270279

Bax (e-PCR), detects polymorphism
- UniSTS:265693

PMC27116P1 (e-PCR)
- UniSTS:272373

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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 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	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 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 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	IBA Inferred from Biological aspect of Ancestor 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 more info	PubMed
located_in membrane	HDA more info	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	HTP 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

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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)

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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

NG_012191.1 RefSeqGene

Range

5016..11939

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001291428.2 → NP_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:25 → 158

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:5 → 182

bcl-2; apoptosis regulator
NM_001291429.2 → NP_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:6 → 126

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:1 → 135

bcl-2; apoptosis regulator
NM_001291430.2 → NP_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:5 → 85

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 ...
NM_001291431.2 → NP_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:1 → 114

bcl-2; apoptosis regulator
NM_004324.4 → NP_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:5 → 172

bcl-2; apoptosis regulator
NM_138761.4 → NP_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:5 → 192

bcl-2; apoptosis regulator
NM_138763.4 → NP_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:5 → 143

bcl-2; apoptosis regulator
NM_138764.5 → NP_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:5 → 179

bcl-2; apoptosis regulator

RNA

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

48954875..48961798

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mRNA and Protein(s)

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

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

51949757..51956683

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Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.