DIABLO
Summary: 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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
diablo IAP-binding mitochondrial protein | MIM:605219 | Ensembl:ENSG00000284934 | HGNC:HGNC:21528 | PA134945044 | 12q24.31 |
Gene Categories:
PROTEASEGO terms in DIABLO
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
MF | IPI | GO:0005515 | protein binding |
BP | TAS | GO:0006915 | apoptotic process |
BP | TAS | GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process |
BP | TAS | GO:0008625 | extrinsic apoptotic signaling pathway via death domain receptors |
BP | IBA | GO:0008631 | intrinsic apoptotic signaling pathway in response to oxidative stress |
BP | IBA | GO:0008635 | activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c |
BP | TAS | GO:0008635 | activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c |
BP | TAS | GO:0043065 | positive regulation of apoptotic process |
BP | IBA | GO:0051402 | neuron apoptotic process |
BP | TAS | GO:0097193 | intrinsic apoptotic signaling pathway |
CC | IBA | GO:0005739 | mitochondrion |
CC | IDA | GO:0005739 | mitochondrion |
CC | TAS | GO:0005758 | mitochondrial intermembrane space |
CC | TAS | GO:0005829 | cytosol |
CC | ISS | GO:0009898 | cytoplasmic side of plasma membrane |
CC | ISS | GO:0035631 | CD40 receptor complex |
Gene expression in normal tissue: DIABLO
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in DIABLO
Database | Pathway ID | Pathway Des. |
---|---|---|
reactome | R-HSA-109581 | Apoptosis |
reactome | R-HSA-109581 | Apoptosis |
reactome | R-HSA-109606 | Intrinsic Pathway for Apoptosis |
reactome | R-HSA-109606 | Intrinsic Pathway for Apoptosis |
reactome | R-HSA-111457 | Release of apoptotic factors from the mitochondria |
reactome | R-HSA-111463 | SMAC binds to IAPs |
reactome | R-HSA-111463 | SMAC binds to IAPs |
reactome | R-HSA-111464 | SMAC-mediated dissociation of IAP:caspase complexes |
reactome | R-HSA-111464 | SMAC-mediated dissociation of IAP:caspase complexes |
reactome | R-HSA-111469 | SMAC-mediated apoptotic response |
reactome | R-HSA-111469 | SMAC-mediated apoptotic response |
reactome | R-HSA-111471 | Apoptotic factor-mediated response |
reactome | R-HSA-111471 | Apoptotic factor-mediated response |
reactome | R-HSA-5357801 | Programmed Cell Death |
reactome | R-HSA-5357801 | Programmed Cell Death |
biocarta | mitochondriapathway | role of mitochondria in apoptotic signaling |
pid | caspase_pathway | Caspase Cascade in Apoptosis |
pid | p75ntrpathway | p75(NTR)-mediated signaling |
kegg | hsa04210 | Apoptosis - Homo sapiens (human) |
kegg | hsa04215 | Apoptosis - multiple species - Homo sapiens (human) |
netpath | Pathway_TNFalpha | TNFalpha |
wikipathways | WP1772 | Apoptosis Modulation and Signaling |
wikipathways | WP231 | TNF alpha Signaling Pathway |
wikipathways | WP2507 | Nanomaterial induced apoptosis |
wikipathways | WP254 | Apoptosis |
wikipathways | WP3639 | Apoptotic Signaling Pathway |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
---|---|---|
iGMDRD579 | PF750 | 1 |
iGMDRD479 | Veliparib | 1 |
iGMDRD344 | AZD7545 | 1 |
iGMDRD889 | Compound 7d-cis | 3 |
iGMDRD79 | Gemcitabine | 3 |
iGMDRD781 | Sirolimus | 3 |
iGMDRD144 | NSC95397 | 3 |
Gene in drug-gene network: Network Plot
![](image/gene_network_legends.png)
Gene-drug targets distribution
Gene Structure: PDB
Models in DIABLO