InnateDB Protein
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IDBP-585846.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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DIABLO
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Protein Name
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diablo, IAP-binding mitochondrial protein
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000442360
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InnateDB Gene
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IDBG-62263 (DIABLO)
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Protein Structure
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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}.
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Subcellular Localization |
Mitochondrion {ECO:0000269PubMed:14523016}. Note=Released into the cytosol when cells undergo apoptosis.
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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.
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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}.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
83
[view]
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Protein-DNA |
4
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
6 [view]
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Molecular Function |
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Biological Process |
GO:0006915
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apoptotic process
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GO:0006919
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activation of cysteine-type endopeptidase activity involved in apoptotic process
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GO:0008625
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extrinsic apoptotic signaling pathway via death domain receptors
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GO:0043065
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positive regulation of apoptotic process
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GO:0097193
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intrinsic apoptotic signaling pathway
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Cellular Component |
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PDB ID |
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InterPro |
IPR009062
Smac/DIABLO-like
IPR015142
Smac/DIABLO protein
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PFAM |
PF09057
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9NR28
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PhosphoSite |
PhosphoSite-Q9NR28
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TrEMBL |
Q502X2
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UniProt Splice Variant |
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Entrez Gene |
56616
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UniGene |
Hs.169611
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RefSeq |
NP_001265233
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HUGO |
HGNC:21528
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OMIM |
605219
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CCDS |
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HPRD |
05560
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IMGT |
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EMBL |
AC048338
AF262240
AF298770
AK001399
AK024768
AK057778
AK315629
AY313210
BC004417
BC011909
BC095468
CH471054
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GenPept |
AAF87716
AAG22077
AAH04417
AAH11909
AAH95468
AAQ86939
BAB14994
BAB71568
BAG37997
BAG50903
EAW98313
EAW98314
EAW98315
EAW98316
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