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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).
Cancer-related genes Plasma proteins Transporters
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
12
Cytoband
q23.1
Chromosome location (bp)
98645290 - 98735433
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Oligomeric Apaf-1 mediates the cytochrome c-dependent autocatalytic activation of pro-caspase-9 (Apaf-3), leading to the activation of caspase-3 and apoptosis. This activation requires ATP. Isoform 6 is less effective in inducing apoptosis....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Apoptosis
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
ATP-binding, Calcium, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a cytoplasmic protein that initiates apoptosis. This protein contains several copies of the WD-40 domain, a caspase recruitment domain (CARD), and an ATPase domain (NB-ARC). Upon binding cytochrome c and dATP, this protein forms an oligomeric apoptosome. The apoptosome binds and cleaves caspase 9 preproprotein, releasing its mature, activated form. Activated caspase 9 stimulates the subsequent caspase cascade that commits the cell to apoptosis. Alternative splicing results in several transcript variants encoding different isoforms. [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 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.
Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Mutational cancer driver genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000166[nucleotide binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005576[extracellular region] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006915[apoptotic process] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0007399[nervous system development] GO:0008635[activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c] GO:0008656[cysteine-type endopeptidase activator activity involved in apoptotic process] GO:0032991[protein-containing complex] GO:0034774[secretory granule lumen] GO:0042981[regulation of apoptotic process] GO:0043065[positive regulation of apoptotic process] GO:0043293[apoptosome] GO:0043531[ADP binding] GO:0070062[extracellular exosome] GO:0072432[response to G1 DNA damage checkpoint signaling] GO:0097190[apoptotic signaling pathway] GO:0097193[intrinsic apoptotic signaling pathway] GO:0097202[activation of cysteine-type endopeptidase activity] GO:1904813[ficolin-1-rich granule lumen]
Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Mutational cancer driver genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000166[nucleotide binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005576[extracellular region] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006915[apoptotic process] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0007399[nervous system development] GO:0008635[activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c] GO:0008656[cysteine-type endopeptidase activator activity involved in apoptotic process] GO:0032991[protein-containing complex] GO:0034774[secretory granule lumen] GO:0042981[regulation of apoptotic process] GO:0043065[positive regulation of apoptotic process] GO:0043293[apoptosome] GO:0043531[ADP binding] GO:0070062[extracellular exosome] GO:0072432[response to G1 DNA damage checkpoint signaling] GO:0097190[apoptotic signaling pathway] GO:0097193[intrinsic apoptotic signaling pathway] GO:0097202[activation of cysteine-type endopeptidase activity] GO:1904813[ficolin-1-rich granule lumen]
Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Mutational cancer driver genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005576[extracellular region] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006915[apoptotic process] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0007399[nervous system development] GO:0008635[activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c] GO:0008656[cysteine-type endopeptidase activator activity involved in apoptotic process] GO:0032991[protein-containing complex] GO:0034774[secretory granule lumen] GO:0042981[regulation of apoptotic process] GO:0043065[positive regulation of apoptotic process] GO:0043293[apoptosome] GO:0043531[ADP binding] GO:0070062[extracellular exosome] GO:0072432[response to G1 DNA damage checkpoint signaling] GO:0097190[apoptotic signaling pathway] GO:0097193[intrinsic apoptotic signaling pathway] GO:0097202[activation of cysteine-type endopeptidase activity] GO:1904813[ficolin-1-rich granule lumen]
Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Mutational cancer driver genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000166[nucleotide binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005576[extracellular region] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006915[apoptotic process] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0007399[nervous system development] GO:0008635[activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c] GO:0008656[cysteine-type endopeptidase activator activity involved in apoptotic process] GO:0032991[protein-containing complex] GO:0034774[secretory granule lumen] GO:0042981[regulation of apoptotic process] GO:0043065[positive regulation of apoptotic process] GO:0043293[apoptosome] GO:0043531[ADP binding] GO:0070062[extracellular exosome] GO:0072432[response to G1 DNA damage checkpoint signaling] GO:0097190[apoptotic signaling pathway] GO:0097193[intrinsic apoptotic signaling pathway] GO:0097202[activation of cysteine-type endopeptidase activity] GO:1904813[ficolin-1-rich granule lumen]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Protein evidence (Ezkurdia et al 2014)
Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Mutational cancer driver genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000166[nucleotide binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005576[extracellular region] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006915[apoptotic process] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0007399[nervous system development] GO:0008635[activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c] GO:0008656[cysteine-type endopeptidase activator activity involved in apoptotic process] GO:0032991[protein-containing complex] GO:0034774[secretory granule lumen] GO:0042981[regulation of apoptotic process] GO:0043065[positive regulation of apoptotic process] GO:0043293[apoptosome] GO:0043531[ADP binding] GO:0070062[extracellular exosome] GO:0072432[response to G1 DNA damage checkpoint signaling] GO:0097190[apoptotic signaling pathway] GO:0097193[intrinsic apoptotic signaling pathway] GO:0097202[activation of cysteine-type endopeptidase activity] GO:1904813[ficolin-1-rich granule lumen]
Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Mutational cancer driver genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000166[nucleotide binding] GO:0001666[response to hypoxia] GO:0001822[kidney development] GO:0001843[neural tube closure] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005576[extracellular region] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006915[apoptotic process] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0007399[nervous system development] GO:0007420[brain development] GO:0007568[aging] GO:0007584[response to nutrient] GO:0008635[activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c] GO:0008656[cysteine-type endopeptidase activator activity involved in apoptotic process] GO:0010659[cardiac muscle cell apoptotic process] GO:0030154[cell differentiation] GO:0030900[forebrain development] GO:0031072[heat shock protein binding] GO:0032991[protein-containing complex] GO:0034774[secretory granule lumen] GO:0042802[identical protein binding] GO:0042981[regulation of apoptotic process] GO:0043065[positive regulation of apoptotic process] GO:0043293[apoptosome] GO:0043531[ADP binding] GO:0051402[neuron apoptotic process] GO:0070059[intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress] GO:0070062[extracellular exosome] GO:0071560[cellular response to transforming growth factor beta stimulus] GO:0072432[response to G1 DNA damage checkpoint signaling] GO:0097190[apoptotic signaling pathway] GO:0097193[intrinsic apoptotic signaling pathway] GO:0097202[activation of cysteine-type endopeptidase activity] GO:1902510[regulation of apoptotic DNA fragmentation] GO:1904813[ficolin-1-rich granule lumen] GO:2001235[positive regulation of apoptotic signaling pathway]
Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Mutational cancer driver genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005576[extracellular region] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006915[apoptotic process] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0007399[nervous system development] GO:0008635[activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c] GO:0008656[cysteine-type endopeptidase activator activity involved in apoptotic process] GO:0032991[protein-containing complex] GO:0034774[secretory granule lumen] GO:0042981[regulation of apoptotic process] GO:0043065[positive regulation of apoptotic process] GO:0043293[apoptosome] GO:0043531[ADP binding] GO:0070062[extracellular exosome] GO:0072432[response to G1 DNA damage checkpoint signaling] GO:0097190[apoptotic signaling pathway] GO:0097193[intrinsic apoptotic signaling pathway] GO:0097202[activation of cysteine-type endopeptidase activity] GO:1904813[ficolin-1-rich granule lumen]
The Human Protein Atlas project is funded
