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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
19
Cytoband
q13.32
Chromosome location (bp)
47220822 - 47232766
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
[Isoform 3]: Does not affect cell growth. [Q96PG8] Essential mediator of p53/TP53-dependent and p53/TP53-independent apoptosis 1,2. Promotes partial unfolding of BCL2L1 and dissociation of BCL2L1 from p53/TP53, releasing the bound p53/TP53 to induce apoptosis 3. Regulates ER stress-induced neuronal apoptosis (By similarity). [Q9BXH1] ...show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Apoptosis [Q9BXH1]
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a member of the BCL-2 family of proteins. This family member belongs to the BH3-only pro-apoptotic subclass. The protein cooperates with direct activator proteins to induce mitochondrial outer membrane permeabilization and apoptosis. It can bind to anti-apoptotic Bcl-2 family members to induce mitochondrial dysfunction and caspase activation. Because of its pro-apoptotic role, this gene is a potential drug target for cancer therapy and for tissue injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0001836[release of cytochrome c from mitochondria] GO:0005515[protein binding] GO:0005739[mitochondrion] GO:0005764[lysosome] GO:0006915[apoptotic process] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0043065[positive regulation of apoptotic process] GO:0051117[ATPase binding] GO:0070059[intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress] GO:0090200[positive regulation of release of cytochrome c from mitochondria] GO:0097193[intrinsic apoptotic signaling pathway] GO:0097194[execution phase of apoptosis] GO:1900740[positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway] GO:2001244[positive regulation of intrinsic apoptotic signaling pathway]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0001836[release of cytochrome c from mitochondria] GO:0005515[protein binding] GO:0005739[mitochondrion] GO:0005741[mitochondrial outer membrane] GO:0005783[endoplasmic reticulum] GO:0005829[cytosol] GO:0006915[apoptotic process] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0006974[cellular response to DNA damage stimulus] GO:0008340[determination of adult lifespan] GO:0031334[positive regulation of protein-containing complex assembly] GO:0032464[positive regulation of protein homooligomerization] GO:0032471[negative regulation of endoplasmic reticulum calcium ion concentration] GO:0034976[response to endoplasmic reticulum stress] GO:0043065[positive regulation of apoptotic process] GO:0043525[positive regulation of neuron apoptotic process] GO:0045926[negative regulation of growth] GO:0051209[release of sequestered calcium ion into cytosol] GO:0070059[intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress] GO:0070245[positive regulation of thymocyte apoptotic process] GO:0071456[cellular response to hypoxia] GO:0090200[positive regulation of release of cytochrome c from mitochondria] GO:0097143[PUMA-BCL-xl complex] GO:0097190[apoptotic signaling pathway] GO:0097193[intrinsic apoptotic signaling pathway] GO:0097194[execution phase of apoptosis] GO:1900740[positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway] GO:1902237[positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway] GO:1903896[positive regulation of IRE1-mediated unfolded protein response] GO:2001056[positive regulation of cysteine-type endopeptidase activity] GO:2001244[positive regulation of intrinsic apoptotic signaling pathway]
SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0001836[release of cytochrome c from mitochondria] GO:0001844[protein insertion into mitochondrial membrane involved in apoptotic signaling pathway] GO:0005515[protein binding] GO:0005739[mitochondrion] GO:0005741[mitochondrial outer membrane] GO:0005783[endoplasmic reticulum] GO:0005829[cytosol] GO:0006915[apoptotic process] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0006974[cellular response to DNA damage stimulus] GO:0008340[determination of adult lifespan] GO:0031334[positive regulation of protein-containing complex assembly] GO:0032464[positive regulation of protein homooligomerization] GO:0032471[negative regulation of endoplasmic reticulum calcium ion concentration] GO:0034976[response to endoplasmic reticulum stress] GO:0042771[intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator] GO:0043065[positive regulation of apoptotic process] GO:0043525[positive regulation of neuron apoptotic process] GO:0044346[fibroblast apoptotic process] GO:0045926[negative regulation of growth] GO:0051209[release of sequestered calcium ion into cytosol] GO:0070059[intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress] GO:0070227[lymphocyte apoptotic process] GO:0070230[positive regulation of lymphocyte apoptotic process] GO:0070231[T cell apoptotic process] GO:0070234[positive regulation of T cell apoptotic process] GO:0070245[positive regulation of thymocyte apoptotic process] GO:0071456[cellular response to hypoxia] GO:0071479[cellular response to ionizing radiation] GO:0090200[positive regulation of release of cytochrome c from mitochondria] GO:0097143[PUMA-BCL-xl complex] GO:0097190[apoptotic signaling pathway] GO:0097193[intrinsic apoptotic signaling pathway] GO:0097194[execution phase of apoptosis] GO:1900740[positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway] GO:1901998[toxin transport] GO:1902237[positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway] GO:1903896[positive regulation of IRE1-mediated unfolded protein response] GO:2000271[positive regulation of fibroblast apoptotic process] GO:2001056[positive regulation of cysteine-type endopeptidase activity] GO:2001244[positive regulation of intrinsic apoptotic signaling pathway]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0001836[release of cytochrome c from mitochondria] GO:0005515[protein binding] GO:0005739[mitochondrion] GO:0005764[lysosome] GO:0006915[apoptotic process] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0043065[positive regulation of apoptotic process] GO:0051117[ATPase binding] GO:0070059[intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress] GO:0090200[positive regulation of release of cytochrome c from mitochondria] GO:0097193[intrinsic apoptotic signaling pathway] GO:0097194[execution phase of apoptosis] GO:1900740[positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway] GO:2001244[positive regulation of intrinsic apoptotic signaling pathway]
The Human Protein Atlas project is funded
