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This gene encodes an inhibitor of apoptosis protein (IAP)-binding protein. The encoded mitochondrial protein enters the cytosol when cells undergo apoptosis, and allows activation of caspases by binding to inhibitor of apoptosis proteins. Overexpression of the encoded protein sensitizes tumor cells to apoptosis. A mutation in this gene is associated with young-adult onset of nonsyndromic deafness-64. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]
DIABLO (Diablo IAP-Binding Mitochondrial Protein) is a Protein Coding gene. Diseases associated with DIABLO include Deafness, Autosomal Dominant 64 and Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna. Among its related pathways are Apoptosis Modulation and Signaling and Apoptosis and survival_Regulation of Apoptosis by Mitochondrial Proteins. An important paralog of this gene is ENSG00000284934.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 11604410 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IEA,IDA | -- |
GO:0005758 | mitochondrial intermembrane space | TAS | 18309324 |
GO:0005829 | cytosol | TAS | -- |
GO:0009898 | cytoplasmic side of plasma membrane | ISS | -- |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Apoptosis Modulation and Signaling |
.41
|
Apoptosis and survival Apoptotic TNF-family pathways
.35
.31
|
2 | Nanomaterial induced apoptosis | ||
3 | TNFR1 Pathway |
Apoptosis and survival TNFR1 signaling pathway
.52
|
.34
|
4 | Activation of caspases through apoptosome-mediated cleavage | ||
5 | Apoptotic execution phase |
.31
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006915 | apoptotic process | IEA,TAS | 10929712 |
GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process | IEA,TAS | 18309324 |
GO:0008625 | extrinsic apoptotic signaling pathway via death domain receptors | TAS | 10950947 |
GO:0008631 | intrinsic apoptotic signaling pathway in response to oxidative stress | IBA | 21873635 |
GO:0008635 | activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c | TAS,IBA | 21873635 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
Compound | Action | Cas Number |
---|---|---|
LCL161 | Antagonist of IAPs inhibitor | 1005342-46-0 |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | · | 3d | · | 3e | · | 3f | ^ | 4 | ^ | 5a | · | 5b | · | 5c | · | 5d | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | · | 11c | · | 11d | · | 11e | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP14: | - | - |
ExUns: | 11f | · | 11g | · | 11h | · | 11i | · | 11j |
---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||
SP2: | |||||||||
SP3: | |||||||||
SP4: | |||||||||
SP5: | |||||||||
SP6: | |||||||||
SP7: | |||||||||
SP8: | |||||||||
SP9: | |||||||||
SP10: | |||||||||
SP11: | |||||||||
SP12: | |||||||||
SP13: | |||||||||
SP14: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DIABLO 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DIABLO 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | DIABLO 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Diablo 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | DIABLO 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | DIABLO 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | DIABLO 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | DIABLO 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | diablo 30 |
|
||
Str.8735 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | diablob 31 |
|
OneToMany | |
diabloa 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
666819 | Uncertain Significance: not specified | 122,226,023(-) | G/C | FIVE_PRIME_UTR_VARIANT | |
682493 | Likely Benign: not provided | 122,216,791(-) | C/T | MISSENSE_VARIANT | |
727382 | Likely Benign: not provided | 122,218,312(-) | G/C | MISSENSE_VARIANT,INTRON_VARIANT | |
rs1057519151 | Uncertain Significance: not provided | 122,208,388(-) | TCACGCAGGTAG/T | FRAMESHIFT_VARIANT,THREE_PRIME_UTR_VARIANT | |
rs1223091168 | Likely Benign: not specified | 122,208,441(-) | T/C | SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2659676 | CNV | deletion | 23128226 |
esv3630970 | CNV | loss | 21293372 |
nsv1134269 | CNV | deletion | 24896259 |
nsv475807 | CNV | novel sequence insertion | 20440878 |
Disorder | Aliases | PubMed IDs |
---|---|---|
deafness, autosomal dominant 64 |
|
|
autosomal dominant non-syndromic sensorineural deafness type dfna |
|
|
chronic leukemia |
|
|
rhabdomyosarcoma 2 |
|
|
acute leukemia |
|