InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DIABLO

Summary

InnateDB Protein

IDBP-62269.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DIABLO

Protein Name

diablo, IAP-binding mitochondrial protein

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000320343

InnateDB Gene

IDBG-62263 (DIABLO)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:10929711, ECO:0000269PubMed:14523016, ECO:0000269PubMed:15200957}.

Subcellular Localization

Mitochondrion {ECO:0000269PubMed:14523016}. Note=Released into the cytosol when cells undergo apoptosis.

Disease Associations

Deafness, autosomal dominant, 64 (DFNA64) [MIM:614152]: 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. {ECO:0000269PubMed:21722859}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitously expressed with highest expression in testis. Expression is also high in heart, liver, kidney, spleen, prostate and ovary. Low in brain, lung, thymus and peripheral blood leukocytes. Isoform 3 is ubiquitously expressed. {ECO:0000269PubMed:10929711, ECO:0000269PubMed:14523016}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 87 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.

Experimentally validated
Total	87 [view]
Protein-Protein	83 [view]
Protein-DNA	4 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	6 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0006915	apoptotic process
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0008625	extrinsic apoptotic signaling pathway via death domain receptors
GO:0043065	positive regulation of apoptotic process
GO:0097193	intrinsic apoptotic signaling pathway

Cellular Component

GO:0005739	mitochondrion
GO:0005758	mitochondrial intermembrane space
GO:0005829	cytosol
GO:0009898	cytoplasmic side of plasma membrane
GO:0035631	CD40 receptor complex