APAF1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | APAF1 |
| Official Name | apoptotic peptidase activating factor 1 [Source:HGNC Symbol;Acc:HGNC:576] |
| Ensembl ID | ENSG00000120868 |
| Bio databases IDs | |
| Aliases | apoptotic peptidase activating factor 1 |
| Synonyms | 6230400I06RIK, Apaf1l, apoptotic peptidase activating factor 1, CED4, fog, mKIAA0413 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human APAF1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- AAA ATPase domain
- Eukaryotic translation initiation factor eIF2A
- walker type B motif
- ATP-binding domain
- heat shock protein binding
- caspase activator
- protease activator
- identical protein binding
- unique protein domain
- WD-like repeat
- Caspase recruitment domain
- CARD-like domain
- WD40 repeats
- APAF-1 helical domain
- P-loop containing Nucleoside Triphosphate Hydrolases
- nucleotide binding
- oligomerization domain
- Ced-4 homology domain
- walker type A motif
- WD domain, G-beta repeat
- WD40
- enzyme regulator activity
- protein binding
- NB-ARC domain
- P-loop
- Ced3-homology domain
- Death Domain Superfamily of protein-protein interaction domains
Pathways
Biological processes and signaling networks where the APAF1 gene in human plays a role, providing insight into its function and relevance in health or disease.
- Amyotrophic Lateral Sclerosis Signaling
- Apoptosis Signaling
- Aryl Hydrocarbon Receptor Signaling
- CD27 Signaling in Lymphocytes
- Cytotoxic T Lymphocyte-mediated Apoptosis of Target Cells
- Death Receptor Signaling
- DNA damage-induced 14-3-3σ Signaling
- Docosahexaenoic Acid (DHA) Signaling
- Granzyme B Signaling
- Huntington's Disease Signaling
- Induction of Apoptosis by HIV1
- Lymphotoxin β Receptor Signaling
- Molecular Mechanisms of Cancer
- Myc Mediated Apoptosis Signaling
- Nur77 Signaling in T Lymphocytes
- p53 Signaling
- Retinoic acid Mediated Apoptosis Signaling
- Role of PKR in Interferon Induction and Antiviral Response
- Small Cell Lung Cancer Signaling
- TNFR1 Signaling
- Tumoricidal Function of Hepatic Natural Killer Cells
- TWEAK Signaling
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- craniofacial abnormality
- hyperplasia
- exencephaly
- psoriatic arthritis
- azoospermia
- spondylarthritis
- hydrocephalus
- microcephaly
- tinnitus
- cranioschisis
role in cell
- proliferation
- expression in
- quantity
- apoptosis
- cell death
- activation in
- formation
- transmembrane potential
- survival
- molecular cleavage in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- secretory granule lumen
- ficolin-1-rich granule lumen
- Extracellular Space
- Nucleus
- Golgi Apparatus
- apoptosome
- cytosol
- plasma
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human APAF1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- nervous system development
- regulation of apoptotic process
- response to nutrient
- intrinsic apoptotic signaling pathway
- activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c
- cellular response to transforming growth factor beta stimulus
- response to hypoxia
- forebrain development
- neural tube closure
- cardiac muscle cell apoptotic process
- kidney development
- response to mitotic cell cycle G1/S transition DNA damage checkpoint signal
- apoptotic process
- positive regulation of apoptotic process
- cell differentiation
- intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress
- activation of cysteine-type endopeptidase activity involved in apoptotic process
- neuron apoptotic process
- positive regulation of apoptotic signaling pathway
Cellular Component
Where in the cell the gene product is active
- nucleus
- apoptosome
- extracellular vesicular exosome
- cytosol
- macromolecular complex
- secretory granule lumen
- extracellular region
Molecular Function
What the gene product does at the molecular level
- nucleotide binding
- heat shock protein binding
- ATP binding
- identical protein binding
- protein binding
- ADP binding
- cysteine-type endopeptidase activator activity involved in apoptotic process