Description: Homo sapiens diablo, IAP-binding mitochondrial protein (RP11-512M8.12), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. RefSeq Summary (NM_019887): 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]. Transcript (Including UTRs) Position: hg19 chr12:122,692,209-122,712,068 Size: 19,860 Total Exon Count: 7 Strand: - Coding Region Position: hg19 chr12:122,692,928-122,710,561 Size: 17,634 Coding Exon Count: 6
ID:DBLOH_HUMAN DESCRIPTION: RecName: Full=Diablo homolog, mitochondrial; AltName: Full=Direct IAP-binding protein with low pI; AltName: Full=Second mitochondria-derived activator of caspase; Short=Smac; Flags: Precursor; 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. SUBUNIT: Homodimer. Interacts with NGFRAP1/BEX3 (By similarity). Interacts with BIRC2/c-IAP1, BIRC3/c-IAP2, XIAP/BIRC4, BIRC6/bruce and BIRC7/livin. Interacts with the monomeric and dimeric form of BIRC5/survivin. INTERACTION: Q13490:BIRC2; NbExp=4; IntAct=EBI-517508, EBI-514538; Q13489:BIRC3; NbExp=2; IntAct=EBI-517508, EBI-517709; Q96CA5:BIRC7; NbExp=6; IntAct=EBI-517508, EBI-517623; P98170:XIAP; NbExp=7; IntAct=EBI-517508, EBI-517127; Q60989:Xiap (xeno); NbExp=3; IntAct=EBI-517508, EBI-517478; SUBCELLULAR LOCATION: Mitochondrion. Note=Released into the cytosol when cells undergo apoptosis. 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. DOMAIN: The mature N-terminus mediates interaction with XIAP/BIRC4. PTM: Ubiquitinated by BIRC7/livin. DISEASE: Defects in DIABLO are the cause of deafness autosomal dominant type 64 (DFNA64) [MIM:614152]. DFNA64 is 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.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9NR28
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
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:0008635 activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c GO:0043065 positive regulation of apoptotic process GO:0097193 intrinsic apoptotic signaling pathway
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