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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.
Protein class

Disease related genes, Human disease related genes, Plasma proteins

Predicted location

Intracellular, Membrane (different isoforms)

Single cell type specificity

Cell type enhanced (Basal squamous epithelial cells, Squamous epithelial cells, Plasma cells)

Immune cell specificity

Low immune cell specificity

Cell line specificity

Low cell line specificity

Interaction

Homodimer (PubMed:10972280). Interacts with BEX3 (By similarity). Interacts with BIRC2/c-IAP1 (via BIR3 domain) (PubMed:19153467). Interacts with BIRC6/bruce (PubMed:15200957). Interacts with BIRC7/livin (PubMed:16729033). Interacts with XIAP/BIRC4 (via BIR3 domain) (PubMed:21695558, PubMed:11140637). Interacts with the monomeric and dimeric form of BIRC5/survivin (PubMed:21536684). Interacts with AREL1 (via HECT domain); in the cytoplasm following induction of apoptosis (PubMed:23479728).

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