DIABLO Gene Summary [Human]
This gene encodes an inhibitor of apoptosis protein (IAP)-binding protein. The encoded mitochondrial protein enters the cytosol when cells undergo apoptosis, and allows activation of caspases by binding to inhibitor of apoptosis proteins. Overexpression of the encoded protein sensitizes tumor cells to apoptosis. A mutation in this gene is associated with young-adult onset of nonsyndromic deafness-64. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]
Details
| Type | Protein Coding |
| Official Symbol | DIABLO |
| Official Name | diablo IAP-binding mitochondrial protein [Source:HGNC Symbol;Acc:HGNC:21528] |
| Ensembl ID | ENSG00000184047 |
| Bio databases IDs | |
| Aliases | diablo IAP-binding mitochondrial protein, second mitochondria-derived activator of caspase |
| Synonyms | 0610041G12Rik, 1700006L01RIK, AU040403, DFNA64, diablo IAP-binding mitochondrial protein, diablo, IAP-binding mitochondrial protein, SMAC |
| 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 DIABLO often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- IAP binding domain
- mitochondrial presequence
- Second Mitochondria-derived Activator of Caspases
- protein binding
Pathways
Biological processes and signaling networks where the DIABLO 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
- familial nonsyndromic hearing impairment
- hypertension
- gastrointestinal neoplasia
- colorectal neoplasia
- Waldenström macroglobulinemia
- autosomal dominant deafness type 64
- HER2 negative hormone receptor negative breast cancer
- acute myeloid leukemia
- systemic lupus erythematosus
- colon cancer
role in cell
- cell death
- expression in
- apoptosis
- activation
- degradation in
- proliferation
- survival
- molecular cleavage in
- quantity
- transmembrane potential
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
- mitochondrial fraction
- perinuclear region
- cortical rim
- cellular membrane
- Mitochondria
- membrane compartment
- cytosol
- cytoplasmic face of plasma membrane
- mitochondrial matrix
- mitochondrial intermembrane space
- mitochondrial inner membrane
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DIABLO gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- apoptotic process
- positive regulation of apoptotic process
- induction of apoptosis by oxidative stress
- intrinsic apoptotic signaling pathway
- activation of cysteine-type endopeptidase activity involved in apoptotic process
- induction of apoptosis via death domain receptors
- activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c
- neuron apoptotic process
Cellular Component
Where in the cell the gene product is active
- mitochondrial intermembrane space
- mitochondrion
- cytosol
- CD40 receptor complex
- internal side of plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding