DIABLO
entrez
56616
canonical
uniprot
Q9NR28
canonical
ensembl
ENSG00000184047
resolver
ensp
ENSP00000320343
resolver
ensp
ENSP00000442360
resolver
genesymbol
DIABLO
resolver
genesymbol_syn
SMAC
resolver
hgnc
HGNC:21528
resolver
uniprot
A0A0S2Z5P6
resolver
uniprot
A0A0S2Z5U7
resolver
uniprot
B2RDQ0
resolver
uniprot
K7X1S0
resolver
uniprot
Q502X2
resolver
uniprot
Q6W3F3
resolver
uniprot
Q96LV0
resolver
uniprot
Q9BT11
resolver
uniprot
Q9HAV6
resolver
uniprot_entry
A0A0S2Z5P6_HUMAN
resolver
uniprot_entry
A0A0S2Z5U7_HUMAN
resolver
uniprot_entry
DBLOH_HUMAN
resolver
uniprot_entry
K7X1S0_HUMAN
resolver
uniprot_entry
Q502X2_HUMAN
resolver
uniprot_sec
B2RDQ0
resolver
uniprot_sec
Q6W3F3
resolver
uniprot_sec
Q96LV0
resolver
uniprot_sec
Q9BT11
resolver
uniprot_sec
Q9HAV6
resolver
amino_acid_sequence
MAALKSWLSRSVTSFFRYRQCLCVPVVANFKKRCFSELIRPWHKTVTIGFGVTLCAVPIAQKSEPHSLSSEALMRRAVSLVTDSTSTFLSQTTYALIEAITEYTKAVYTLTSLYRQYTSLLGKMNSEEEDEVWQVIIGARAEMTSKHQEYLKLETTWMTAVGLSEMAAEAAYQTGADQASITARNHIQLVKLQVEEVHQLSRKAETKLAEAQIEELRQKTQEEGEERAESEQEAYLRED
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:21722859}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 (PubMed:15200957, PubMed:36758104, PubMed:36758105, PubMed:36758106). {ECO:0000269|PubMed:10929711, ECO:0000269|PubMed:15200957, ECO:0000269|PubMed:36758104, ECO:0000269|PubMed:36758105, ECO:0000269|PubMed:36758106}.; FUNCTION: [Isoform 3]: 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. {ECO:0000269|PubMed:14523016}.; FUNCTION: [Isoform 1]: Defective in the capacity to down-regulate the XIAP/BIRC4 abundance. {ECO:0000269|PubMed:14523016}.
uniprot
proteins
mass_dalton
27131
uniprot
proteins
mutagenesis
MUTAGEN 56; /note="A->M: Fails to inhibit BIRC6 activity. Fails to inhibit digestion of BIRC6 by CASP3, CASP7 or HTRA2 mutant 'A-306'."; /evidence="ECO:0000269|PubMed:36758104"; MUTAGEN 81; /note="V->D: Monomeric. Impairs interaction with BIRC6. Impairs ability to inhibit BIRC6 caspase ubiquitination."; /evidence="ECO:0000269|PubMed:36758106
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by BIRC7/livin (PubMed:16729033). Ubiquitinated by BIRC6 (PubMed:36758104, PubMed:36758105, PubMed:36758106). {ECO:0000269|PubMed:16729033, ECO:0000269|PubMed:36758104, ECO:0000269|PubMed:36758105, ECO:0000269|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. {ECO:0000269|PubMed:28288130}.
uniprot
proteins
protein_family
Smac/DIABLO protein family
uniprot
proteins
pubmed
10929711
uniprot
proteins
pubmed
10950947
uniprot
proteins
pubmed
10972280
uniprot
proteins
pubmed
11140637
uniprot
proteins
pubmed
14523016
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15200957
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
16729033
uniprot
proteins
pubmed
19153467
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21536684
uniprot
proteins
pubmed
21695558
uniprot
proteins
pubmed
21722859
uniprot
proteins
pubmed
23479728
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28288130
uniprot
proteins
pubmed
36758104
uniprot
proteins
pubmed
36758105
uniprot
proteins
pubmed
36758106
uniprot
proteins
sequence_length
239
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:10972280, ECO:0000269|PubMed:14523016, ECO:0000269|PubMed:28288130}. Cytoplasm, cytosol {ECO:0000269|PubMed:10929711, ECO:0000269|PubMed:28288130}. Note=Released into the cytosol in a PARL-dependent manner when cells undergo apoptosis. {ECO:0000269|PubMed:10929711, ECO:0000269|PubMed:28288130}.
uniprot
proteins