DIABLO
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]
Full Name
Diablo homolog, mitochondrial
Function
Promotes apoptosis by activating caspases in the cytochrome c/Apaf-1/caspase-9 pathway. Acts by opposing the inhibitory activity of inhibitor of apoptosis proteins (IAP). Inhibits the activity of BIRC6/bruce by inhibiting its binding to caspases. Isoform 3 attenuates the stability and apoptosis-inhibiting activity of XIAP/BIRC4 by promoting XIAP/BIRC4 ubiquitination and degradation through the ubiquitin-proteasome pathway. Isoform 3 also disrupts XIAP/BIRC4 interacting with processed caspase-9 and promotes caspase-3 activation. Isoform 1 is defective in the capacity to down-regulate the XIAP/BIRC4 abundance.
Biological Process
Activation of cysteine-type endopeptidase activity involved in apoptotic process Source: UniProtKB
Activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c Source: GO_Central
Apoptotic process Source: ProtInc
Extrinsic apoptotic signaling pathway via death domain receptors Source: ProtInc
Intrinsic apoptotic signaling pathway Source: UniProtKB
Intrinsic apoptotic signaling pathway in response to oxidative stress Source: GO_Central
Neuron apoptotic process Source: GO_Central
Positive regulation of apoptotic process Source: UniProtKB
Activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c Source: GO_Central
Apoptotic process Source: ProtInc
Extrinsic apoptotic signaling pathway via death domain receptors Source: ProtInc
Intrinsic apoptotic signaling pathway Source: UniProtKB
Intrinsic apoptotic signaling pathway in response to oxidative stress Source: GO_Central
Neuron apoptotic process Source: GO_Central
Positive regulation of apoptotic process Source: UniProtKB
Cellular Location
Mitochondrion. Released into the cytosol when cells undergo apoptosis.
Involvement in disease
Deafness, autosomal dominant, 64 (DFNA64):
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
PTM
Ubiquitinated by BIRC7/livin.
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Anti-DIABLO antibodies
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Target: DIABLO
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: D0878
Application*: WB
Target: DIABLO
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: 271
Application*: E
Target: DIABLO
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: CBXS-1060
Application*: IP
Target: DIABLO
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: D0877
Application*: IF, WB, F
Target: DIABLO
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: 10G7
Application*: IF, E, WB, F
Target: DIABLO
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: D0875
Application*: IF
Target: DIABLO
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: 8H5AB2
Application*: WB, E
Target: DIABLO
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: 8H5AA3
Application*: WB, IP, IF, E, P
Target: DIABLO
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse, Rat
Clone: D0868
Application*: IH, WB, IP
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For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
- AActivation
- AGAgonist
- APApoptosis
- BBlocking
- BABioassay
- BIBioimaging
- CImmunohistochemistry-Frozen Sections
- CIChromatin Immunoprecipitation
- CTCytotoxicity
- CSCostimulation
- DDepletion
- DBDot Blot
- EELISA
- ECELISA(Cap)
- EDELISA(Det)
- ESELISpot
- EMElectron Microscopy
- FFlow Cytometry
- FNFunction Assay
- GSGel Supershift
- IInhibition
- IAEnzyme Immunoassay
- ICImmunocytochemistry
- IDImmunodiffusion
- IEImmunoelectrophoresis
- IFImmunofluorescence
- IGImmunochromatography
- IHImmunohistochemistry
- IMImmunomicroscopy
- IOImmunoassay
- IPImmunoprecipitation
- ISIntracellular Staining for Flow Cytometry
- LALuminex Assay
- LFLateral Flow Immunoassay
- MMicroarray
- MCMass Cytometry/CyTOF
- MDMeDIP
- MSElectrophoretic Mobility Shift Assay
- NNeutralization
- PImmunohistologyp-Paraffin Sections
- PAPeptide Array
- PEPeptide ELISA
- PLProximity Ligation Assay
- RRadioimmunoassay
- SStimulation
- SESandwich ELISA
- SHIn situ hybridization
- TCTissue Culture
- WBWestern Blot
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