Tbio DIABLO Diablo homolog, mitochondrial

Protein Summary

Description

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. 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]

Uniprot Accession IDs

• Q9NR28
• B2RDQ0
• Q6W3F3
• Q96LV0
• Q9BT11
• Q9HAV6

Gene Name

• DIABLO

Ensembl ID

• ENST00000353548
• ENSP00000320343
• ENSG00000184047
• ENST00000443649
• ENSP00000398495
• ENSG00000284934
• ENST00000464942
• ENSP00000442360

Symbol

• SMAC
• SMAC
• DFNA64

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
kinase perturbation	0.99
disease perturbation	0.98
chemical	0.9
transcription factor perturbation	0.88
biological term	0.85

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1370.41   (req: < 5)

Gene RIFs: 134   (req: <= 3)

Antibodies: 666   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1370.41   (req: >= 5)

Gene RIFs: 134   (req: > 3)

Antibodies: 666   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 8

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Expression Data (0 Tissues)

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No expression data found

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Target Illumination GWAS Analytics (TIGA)

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GENEVA

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GlyGen

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ARCHS4

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (142)

Explore Interacting Targets

1 – 10 of 142

• See Interactions on String-DB

BIRC2

Tchem

Novelty:  0.00199701

p_int:  0.99999986

p_ni:  1.4e-7

Score:  0.998

Data Source:  BioPlex,STRINGDB

XIAP

Tchem

Family:  Enzyme

Novelty:  0.00062268

p_int:  0.999997123

p_ni:  0.000002544

p_wrong:  3.33e-7

Score:  0.998

Data Source:  BioPlex,Reactome,STRINGDB

DUSP22

Tbio

Family:  Enzyme

Novelty:  0.01579003

p_int:  0.999996954

p_ni:  2.65e-7

p_wrong:  0.000002781

Data Source:  BioPlex

BIRC7

Tchem

Novelty:  0.00420245

p_int:  0.999560991

p_ni:  0.000439009

Score:  0.956

Data Source:  BioPlex,STRINGDB

TRAF2

Tbio

Novelty:  0.00983658

p_int:  0.999386677

p_ni:  0.000613323

Score:  0.965

Data Source:  BioPlex,STRINGDB

MTFR1

Tbio

Novelty:  0.14089765

p_int:  0.99574513

p_ni:  0.00425487

Score:  0.197

Data Source:  BioPlex,STRINGDB

BIRC8

Tchem

Novelty:  0.05142518

p_int:  0.993750372

p_ni:  0.006249628

Score:  0.927

Data Source:  BioPlex,STRINGDB

BIRC6

Tbio

Novelty:  0.01187953

p_int:  0.99347646

p_ni:  0.00652354

Score:  0.957

Data Source:  BioPlex,STRINGDB

KLHL2

Tbio

Novelty:  0.07279226

p_int:  0.981258318

p_ni:  0.018741682

Data Source:  BioPlex

TRAF1

Tbio

Novelty:  0.00526776

p_int:  0.966775913

p_ni:  0.033223985

p_wrong:  1.03e-7

Score:  0.794

Data Source:  BioPlex,STRINGDB

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (54)

Reactome (11)

KEGG (2)

PathwayCommons (4)

WikiPathways (37)

Apoptosis (R-HSA-109581)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Apoptosis	177 targets	R-HSA-109581
Reactome	Apoptotic factor-mediated response	16 targets	R-HSA-111471
Reactome	Cytochrome c-mediated apoptotic response	13 targets	R-HSA-111461
Reactome	Formation of apoptosome	11 targets	R-HSA-111458
Reactome	Intrinsic Pathway for Apoptosis	52 targets	R-HSA-109606

Name	Explore in Pharos	Explore in Source
Apoptosis	177 targets	R-HSA-109581
Apoptotic factor-mediated response	16 targets	R-HSA-111471
Cytochrome c-mediated apoptotic response	13 targets	R-HSA-111461
Formation of apoptosome	11 targets	R-HSA-111458
Intrinsic Pathway for Apoptosis	52 targets	R-HSA-109606

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (13)

Components (5)

Processes (8)

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GO Term	Evidence	Assigned by
mitochondrion	Inferred from Direct Assay (IDA)	HPA
CD40 receptor complex	Inferred from Sequence or structural Similarity (ISS)	BHF-UCL
cytoplasmic side of plasma membrane	Inferred from Sequence or structural Similarity (ISS)	BHF-UCL
cytosol	Traceable Author Statement (TAS)	Reactome
mitochondrial intermembrane space	Traceable Author Statement (TAS)	UniProtKB

Disease Associations ()

No disease associations found

GWAS Traits (24)

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1 – 5 of 24

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
BMI-adjusted hip circumference	EFO_0008039	2	11	12		90.9
BMI-adjusted waist-hip ratio	EFO_0007788	1	9	9		86.2
waist-hip ratio	EFO_0004343	1	9	9		84.2
high density lipoprotein cholesterol measurement	EFO_0004612	1	2	2		79.2
serum alanine aminotransferase measurement	EFO_0004735	1	1	0	10.3	76.8

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GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
BMI-adjusted hip circumference	EFO_0008039	12		90.9
BMI-adjusted waist-hip ratio	EFO_0007788	9		86.2
waist-hip ratio	EFO_0004343	9		84.2
high density lipoprotein cholesterol measurement	EFO_0004612	2		79.2
serum alanine aminotransferase measurement	EFO_0004735	0	10.3	76.8

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Find similar targets by:

UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
Alternative splicing
Apoptosis
Complete proteome
Deafness
Direct protein sequencing
Disease mutation
Mitochondrion
Non-syndromic deafness
Reference proteome

GWAS Trait Find Similar Targets

No Header	No Header
adiponectin measurement
allergic rhinitis
apolipoprotein A 1 measurement
asthma
BMI-adjusted hip circumference
BMI-adjusted waist circumference
BMI-adjusted waist-hip ratio
body mass index
C-reactive protein measurement
diastolic blood pressure

IDG Resources

No IDG generated resources found

Orthologs (11)

1 – 5 of 11

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Mouse	diablo, IAP-binding mitochondrial protein	MGI:1913843	66593
Rat	diablo-like	RGD:2321120	100360940
Dog	diablo IAP-binding mitochondrial protein	VGNC:39954	477463
Horse	diablo IAP-binding mitochondrial protein	VGNC:17182	100058709
Cow	diablo IAP-binding mitochondrial protein	VGNC:28061	493999

Species	Name	OMA	EggNOG	Inparanoid
Mouse	diablo, IAP-binding mitochondrial protein
Rat	diablo-like
Dog	diablo IAP-binding mitochondrial protein
Horse	diablo IAP-binding mitochondrial protein
Cow	diablo IAP-binding mitochondrial protein

Publication Statistics

PubMed Score 1370.41

PubMed score by year

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PubTator Score 624.34

PubTator score by year

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Related Publications

Text Mined References (178)

GeneRif Annotations (134)

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PMID	Year	Title