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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:

PROTEASE

GO 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

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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

Gene-drug targets distribution

Gene Structure: PDB

Models in DIABLO

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DATATYPES

CLASSFICATION

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