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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.
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
14
Cytoband
q32.12
Chromosome location (bp)
93182199 - 93184923
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Retrotransposon-derived protein that forms virion-like capsids (By similarity). Acts as an effector of BAX during apoptosis: enriched at outer mitochondria membrane and associates with BAX upon induction of apoptosis, facilitating BAX-dependent mitochondrial outer membrane permeabilization and apoptosis 1,2. Required for death receptor-dependent apoptosis 3. When associated with RASSF1, promotes BAX conformational change and translocation to mitochondrial membranes in response to TNF and TNFSF10 stimulation 4. Also promotes autophagy: promotes phagophore closure via association with ATG8 proteins 5. Acts as an inhibitor of the NFE2L2/NRF2 pathway via interaction with SQSTM1: interaction promotes dissociation of SQSTM1 inclusion bodies that sequester KEAP1, relieving inactivation of the BCR(KEAP1) complex 6....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Apoptosis, Autophagy
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene was identified by its interaction with apoptosis regulator BAX protein. This protein contains a Bcl-2 homology 3 (BH3)-like motif, which is required for the association with BAX. When overexpressed, this gene has been shown to mediate caspase-dependent apoptosis. [provided by RefSeq, Jul 2008]...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 ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
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 Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0001844[protein insertion into mitochondrial membrane involved in apoptotic signaling pathway] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005741[mitochondrial outer membrane] GO:0005829[cytosol] GO:0006914[autophagy] GO:0006915[apoptotic process] GO:0008625[extrinsic apoptotic signaling pathway via death domain receptors] GO:0008630[intrinsic apoptotic signaling pathway in response to DNA damage] GO:0016020[membrane] GO:0031625[ubiquitin protein ligase binding] GO:0042981[regulation of apoptotic process] GO:0043065[positive regulation of apoptotic process] GO:0090200[positive regulation of release of cytochrome c from mitochondria] GO:0097190[apoptotic signaling pathway] GO:0097192[extrinsic apoptotic signaling pathway in absence of ligand] GO:2000786[positive regulation of autophagosome assembly]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0001844[protein insertion into mitochondrial membrane involved in apoptotic signaling pathway] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005741[mitochondrial outer membrane] GO:0005829[cytosol] GO:0006914[autophagy] GO:0006915[apoptotic process] GO:0008625[extrinsic apoptotic signaling pathway via death domain receptors] GO:0008630[intrinsic apoptotic signaling pathway in response to DNA damage] GO:0016020[membrane] GO:0031625[ubiquitin protein ligase binding] GO:0042981[regulation of apoptotic process] GO:0043065[positive regulation of apoptotic process] GO:0090200[positive regulation of release of cytochrome c from mitochondria] GO:0097190[apoptotic signaling pathway] GO:0097192[extrinsic apoptotic signaling pathway in absence of ligand] GO:2000786[positive regulation of autophagosome assembly]
The Human Protein Atlas project is funded
