Homo sapiens Gene: DIABLO
Summary
InnateDB Gene IDBG-62263.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DIABLO
Gene Name diablo, IAP-binding mitochondrial protein
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000184047
Encoded Proteins
diablo, IAP-binding mitochondrial protein
diablo, IAP-binding mitochondrial protein
diablo, IAP-binding mitochondrial protein
diablo, IAP-binding mitochondrial protein
diablo, IAP-binding mitochondrial protein
diablo, IAP-binding mitochondrial protein
diablo, IAP-binding mitochondrial protein
diablo, IAP-binding mitochondrial protein
diablo, IAP-binding mitochondrial protein
diablo, IAP-binding mitochondrial protein
diablo, IAP-binding mitochondrial protein
diablo, IAP-binding mitochondrial protein
diablo, IAP-binding mitochondrial protein
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes an inhibitor of apoptosis protein (IAP)-binding protein. The encoded mitochondrial protein enters the cytosol when cells undergo apoptosis, and it moderates the caspase inhibition of IAPs. Multiple polyadenylation sites have been found for this gene. Four alternatively spliced transcript variants have been described for this gene, with two of them encoding different isoforms and the other two probably not encoding a protein. [provided by RefSeq, Dec 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:122207662-122227534
Strand Reverse strand
Band q24.31
Transcripts
ENST00000342392 ENSP00000339963
ENST00000267169 ENSP00000267169
ENST00000353548 ENSP00000320343
ENST00000443649 ENSP00000398495
ENST00000413918 ENSP00000411638
ENST00000439489 ENSP00000390818
ENST00000446652 ENSP00000390103
ENST00000464942 ENSP00000442360
ENST00000474004 ENSP00000442669
ENST00000489781
ENST00000485724 ENSP00000438710
ENST00000475784
ENST00000541273 ENSP00000440971
ENST00000540535 ENSP00000441139
ENST00000541656 ENSP00000440653
Interactions
Number of Interactions 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]
Protein-Protein 83 [view]
Protein-DNA 4 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 6 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0006915 apoptotic process
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0008625 extrinsic apoptotic signaling pathway via death domain receptors
GO:0008631 intrinsic apoptotic signaling pathway in response to oxidative stress
GO:0008635 activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c
GO:0043065 positive regulation of apoptotic process
GO:0051402 neuron apoptotic process
GO:0097193 intrinsic apoptotic signaling pathway
Cellular Component
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005758 mitochondrial intermembrane space
GO:0005829 cytosol
GO:0009898 cytoplasmic side of plasma membrane
GO:0035631 CD40 receptor complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
TNFalpha pathway
REACTOME
SMAC-mediated dissociation of IAP:caspase complexes pathway
SMAC binds to IAPs pathway
Release of apoptotic factors from the mitochondria pathway
SMAC-mediated apoptotic response pathway
Apoptosis pathway
Apoptotic factor-mediated response pathway
Intrinsic Pathway for Apoptosis pathway
KEGG
INOH
PID NCI
Caspase Cascade in Apoptosis
p75(NTR)-mediated signaling
Cross-References
SwissProt
TrEMBL F5GX50 F5GYH3 F5H0Q4 F5H796
UniProt Splice Variant
Entrez Gene 56616
UniGene Hs.169611
RefSeq NM_001278302 NM_001278303 NM_001278304 NM_001278342 NM_019887 NM_138930
HUGO HGNC:21528
OMIM 605219
CCDS CCDS73541 CCDS9228 CCDS9229
HPRD 05560
IMGT
EMBL AC048338
GenPept
RNA Seq Atlas 56616