| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
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. SUBCELLULAR LOCATION: Mitochondrion. Note=Released into the cytosol when cells undergo apoptosis. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9NR28-1; Sequence=Displayed; Name=2; Synonyms=Diablo-S; IsoId=Q9NR28-2; Sequence=VSP_004397; Name=3; Synonyms=SMAC3; IsoId=Q9NR28-3; Sequence=VSP_042785; 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. GENE SYNONYMS:DIABLO SMAC. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 239 AA; 27131 MW; 70C2AE0DC654D031 CRC64;
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| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:21528,
urn:biopax:RelationshipXref:NCBI GENE_56616,
urn:biopax:RelationshipXref:REFSEQ_NP_063940,
urn:biopax:RelationshipXref:REFSEQ_NP_620307,
urn:biopax:UnificationXref:UNIPROT_B2RDQ0,
urn:biopax:UnificationXref:UNIPROT_Q6W3F3,
urn:biopax:UnificationXref:UNIPROT_Q96LV0,
urn:biopax:UnificationXref:UNIPROT_Q9BT11,
urn:biopax:UnificationXref:UNIPROT_Q9HAV6,
urn:biopax:UnificationXref:UNIPROT_Q9NR28
|
| biopax3:displayName |
DBLOH_HUMAN
|
| biopax3:name |
DIABLO,
Direct IAP-binding protein with low pI,
Second mitochondria-derived activator of caspase,
Smac
|
| biopax3:organism | |
| biopax3:sequence |
MAALKSWLSRSVTSFFRYRQCLCVPVVANFKKRCFSELIRPWHKTVTIGFGVTLCAVPIAQKSEPHSLSSEALMRRAVSLVTDSTSTFLSQTTYALIEAITEYTKAVYTLTSLYRQYTSLLGKMNSEEEDEVWQVIIGARAEMTSKHQEYLKLETTWMTAVGLSEMAAEAAYQTGADQASITARNHIQLVKLQVEEVHQLSRKAETKLAEAQIEELRQKTQEEGEERAESEQEAYLRED
|
| biopax3:standardName |
Diablo homolog, mitochondrial
|