| Gene Symbol |
DIABLO
|
| Entrez Gene |
56616
|
| Alt Symbol |
DFNA64, SMAC
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
diablo, IAP-binding mitochondrial protein
|
| Other Description |
diablo homolog, mitochondrial|direct IAP-binding protein with low pI|second mitochondria-derived activator of caspase
|
| Swissprots |
Q9HAV6 Q9BT11 B2RDQ0 Q6W3F3 Q96LV0 Q9NR28
|
| Accessions |
EAW98311 EAW98312 EAW98313 EAW98314 EAW98315 EAW98316 Q9NR28 AF262240 AAF87716 AF298770 AAG22077 AK001399 BAG50903 AK024768 BAB14994 AK057778 BAB71568 AK222664 BAD96384 AK315629 BAG37997 AY313210 AAQ86939 BC004417 AAH04417 BC011909 AAH11909 BC046209 BC095468 AAH95468 BF313712 BF724951 BM746689 CD742753 CF128595 DA877400 DA910387 DA915183 DB254800 DQ893061 ABM83987 DQ896313 ABM87312 JX679472 AFX61342 N66735 NM_001278302 NP_001265231 NM_001278303 NP_001265232 NM_001278304 NP_001265233 NM_001278342 NP_001265271 NM_019887 NP_063940 NM_138930 NP_620308 NM_138929
|
| 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:0000269|PubMed:10929711, ECO:0000269|PubMed:14523016, ECO:0000269|PubMed:15200957}.
|
| Subcellular Location |
Mitochondrion {ECO:0000269|PubMed:14523016}. 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. {ECO:0000269|PubMed:10929711, ECO:0000269|PubMed:14523016}.
|