• Gene id: 56616

Gene Summary

• Gene Symbol: DIABLO   Gene   UCSC   Ensembl
• Aliases: DFNA64, SMAC
• Gene name: diablo IAP-binding mitochondrial protein
• Alternate names: diablo homolog, mitochondrial, diablo-like protein, direct IAP-binding protein with low pI, second mitochondria-derived activator of caspase,
• Gene location: 12q24.31 (122227455: 122207661)     Exons: 8     NC_000012.12
• Gene summary(Entrez): 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 o
• OMIM: 605219

Protein Summary

• Protein general information: Q9NR28  
  • Name: Diablo homolog, mitochondrial (Direct IAP binding protein with low pI) (Second mitochondria derived activator of caspase) (Smac)
  • Length: 239  
  • Mass: 27131
  • Tissue specificity: 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. {EC
• Sequence:

  MAALKSWLSRSVTSFFRYRQCLCVPVVANFKKRCFSELIRPWHKTVTIGFGVTLCAVPIAQKSEPHSLSSEALMR
  RAVSLVTDSTSTFLSQTTYALIEAITEYTKAVYTLTSLYRQYTSLLGKMNSEEEDEVWQVIIGARAEMTSKHQEY
  LKLETTWMTAVGLSEMAAEAAYQTGADQASITARNHIQLVKLQVEEVHQLSRKAETKLAEAQIEELRQKTQEEGE
  ERAESEQEAYLRED

• Structural information:
  • Interpro: IPR009062  IPR015142  
  • PDB: 1FEW 1G3F 1G73 1OXQ 1TW6 1XB0 1XB1 3D9U 3UIH 3UIJ 4TX5 6JX6
  • PDBsum: 1FEW 1G3F 1G73 1OXQ 1TW6 1XB0 1XB1 3D9U 3UIH 3UIJ 4TX5 6JX6
  • DIP: 27627
  • STRING: ENSP00000398495
• Other Databases: GeneCards:  DIABLO  Malacards:  DIABLO

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0051402	neuron apoptotic process	IBA	biological process
GO:0008635	activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c	IBA	biological process
GO:0008631	intrinsic apoptotic signaling pathway in response to oxidative stress	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0005739	mitochondrion	TAS	cellular component
GO:0006915	apoptotic process	TAS	biological process
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	TAS	biological process
GO:0008625	extrinsic apoptotic signaling pathway via death domain receptors	TAS	biological process
GO:0008635	activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c	TAS	biological process
GO:0005758	mitochondrial intermembrane space	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0009898	cytoplasmic side of plasma membrane	ISS	cellular component
GO:0035631	CD40 receptor complex	ISS	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0043065	positive regulation of apoptotic process	TAS	biological process
GO:0005758	mitochondrial intermembrane space	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0097193	intrinsic apoptotic signaling pathway	TAS	biological process
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04210	Apoptosis
hsa04215	Apoptosis - multiple species

Diseases

Associated diseases	References
Deafness, autosomal dominant	KEGG:H00604
Deafness, autosomal dominant	KEGG:H00604
lung non-small cell carcinoma	PMID:16231180
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)