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Details on Person UniProt:Q9NR28 DIABLO

Class:IdReferenceGeneProduct:64638
_chainChangeLogtransit peptide:1-55 added on Fri February 6 2015;chain:56-239 added on Fri February 6 2015;transit peptide:1-55 for 64638 removed on Fri August 11 2023;transit peptide:1-21 for 64638 added on Fri August 11 2023;chain:22-239 for 64638 added on Fri August 11 2023
_displayNameUniProt:Q9NR28 DIABLO
_timestamp2024-11-03 20:18:42
chaintransit peptide:1-21
chain:22-239
chain:56-239
checksum70C2AE0DC654D031
commentFUNCTION 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 (PubMed:15200957, PubMed:36758104, PubMed:36758105, PubMed:36758106).FUNCTION Attenuates the stability and apoptosis-inhibiting activity of XIAP/BIRC4 by promoting XIAP/BIRC4 ubiquitination and degradation through the ubiquitin-proteasome pathway. Also disrupts XIAP/BIRC4 interacting with processed caspase-9 and promotes caspase-3 activation.FUNCTION Defective in the capacity to down-regulate the XIAP/BIRC4 abundance.SUBUNIT Homodimer (PubMed:10972280, PubMed:36758104, PubMed:36758105, PubMed:36758106). Interacts with BIRC2/c-IAP1 (via BIR3 domain) (PubMed:19153467). Interacts with BIRC6/BRUCE; inhibits BIRC6 activity (PubMed:15200957, PubMed:36758104, PubMed:36758105, PubMed:36758106). Interacts with BIRC7/livin (PubMed:16729033). Interacts with XIAP/BIRC4 (via BIR3 domain) (PubMed:11140637, PubMed:21695558, PubMed:28288130). 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). Interacts with BEX3 (By similarity).INTERACTION Released into the cytosol in a PARL-dependent manner when cells undergo apoptosis.ALTERNATIVE PRODUCTS 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 (PubMed:16729033). Ubiquitinated by BIRC6 (PubMed:36758104, PubMed:36758105, PubMed:36758106).PTM The precursor form is proteolytically cleaved by mitochondrial processing peptidase MPP to remove the transit peptide and produce an intermediate form. This is then processed by PARL to produce the mature cleaved form which is released from mitochondria into the cytosol in apoptotic cells.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the Smac/DIABLO protein family.
descriptionrecommendedName: fullName evidence="22"Diablo IAP-binding mitochondrial protein alternativeName: fullName evidence="22"Diablo homolog, mitochondrial alternativeName: fullName evidence="22"Direct IAP-binding protein with low pI alternativeName: fullName evidence="18"Second mitochondria-derived activator of caspases shortName evidence="18"SMAC component recommendedName: Diablo IAP-binding mitochondrial protein, cleaved form /component
geneNameDIABLO
SMAC
identifierQ9NR28
isSequenceChangedFALSE
keyword3D-structure
Alternative splicing
Apoptosis
Cytoplasm
Deafness
Direct protein sequencing
Disease variant
Mitochondrion
Non-syndromic deafness
Proteomics identification
Reference proteome
Transit peptide
Ubl conjugation
modified[InstanceEdit:9836292] Weiser, Joel, 2023-05-25
[InstanceEdit:9841277] Weiser, Joel
[InstanceEdit:9852000] Weiser, Joel, 2023-11-03
[InstanceEdit:9917590] Weiser, Joel, 2024-08-09
[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
nameDIABLO
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:8962494] ENSEMBL:ENSG00000184047 DIABLO [Homo sapiens]
secondaryIdentifierDBLOH_HUMAN
B2RDQ0
Q6W3F3
Q96LV0
Q9BT11
Q9HAV6
sequenceLength239
species[Species:48887] Homo sapiens
(isoformParent)[ReferenceIsoform:146227] UniProt:Q9NR28-2 DIABLO [Homo sapiens]
[ReferenceIsoform:414711] UniProt:Q9NR28-1 DIABLO [Homo sapiens]
[ReferenceIsoform:8971880] UniProt:Q9NR28-3 DIABLO [Homo sapiens]
(referenceEntity)[EntityWithAccessionedSequence:64637] DIABLO [mitochondrial intermembrane space] [Homo sapiens]
[EntityWithAccessionedSequence:114298] DIABLO [cytosol] [Homo sapiens]
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No pathways have been reviewed or authored by UniProt:Q9NR28 DIABLO (64638)