PMAIP1 Gene Summary [Human]
This gene belongs to a pro-apoptotic subfamily within the BCL-2 protein family, referred to as the BCL-2 homology domain 3 (BH3)-only subfamily, which determine whether a cell commits to apoptosis. In response to death-inducing stimuli, BH3-only members inhibit the anti-apoptotic BCL-2 family members, which under steady-state conditions keep the multi-BH domain proteins BAX and BAK, in an inactive state. [provided by RefSeq, Aug 2020]
Details
| Type | Protein Coding |
| Official Symbol | PMAIP1 |
| Official Name | phorbol-12-myristate-13-acetate-induced protein 1 [Source:HGNC Symbol;Acc:HGNC:9108] |
| Ensembl ID | ENSG00000141682 |
| Bio databases IDs | |
| Aliases | phorbol-12-myristate-13-acetate-induced protein 1 |
| Synonyms | APR, NOXA, phorbol-12-myristate-13-acetate-induced protein 1, Pmaip |
| 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 PMAIP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Phorbol-12-myristate-13-acetate-induced
- mitochondrial presequence
- Bcl-2 homology 3 domain
- protein binding
Pathways
Biological processes and signaling networks where the PMAIP1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- small cell lung cancer
- lung cancer
- breast cancer
- COVID-19
- survival
- pancreatic cancer
- uterine serous papillary cancer
- splenomegaly
- nonalcoholic fatty liver disease
- colon cancer
role in cell
- expression in
- proliferation
- cell viability
- binding in
- expansion
- apoptosis
- survival
- transformation
- cell death
- immune response
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
- Nucleus
- Mitochondria
- cytosol
- mitochondrial outer membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PMAIP1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of DNA damage response, signal transduction by p53 class mediator
- positive regulation of release of cytochrome c from mitochondria
- response to dsRNA
- intrinsic apoptotic signaling pathway
- response to DNA damage stimulus
- regulation of mitochondrial membrane permeability
- cellular response to glucose starvation
- T cell homeostasis
- positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
- reactive oxygen species metabolic process
- positive regulation of glucose metabolic process
- negative regulation of mitochondrial membrane potential
- signal transduction by p53 class mediator resulting in induction of apoptosis
- apoptotic process
- positive regulation of apoptotic process
- release of cytochrome c from mitochondria
- defense response to virus
- cellular response to hypoxia
- positive regulation of intrinsic apoptotic signaling pathway
- proteasomal protein catabolic process
Cellular Component
Where in the cell the gene product is active
- nucleus
- Bcl-2 family protein complex
- mitochondrion
- cytosol
- mitochondrial outer membrane
Molecular Function
What the gene product does at the molecular level
- protein binding