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Aliases for DIABLO Gene

Aliases for DIABLO Gene

  • Diablo IAP-Binding Mitochondrial Protein 2 3
  • Second Mitochondria-Derived Activator Of Caspase 2 3 4
  • Diablo, IAP-Binding Mitochondrial Protein 2 3 5
  • Direct IAP-Binding Protein With Low PI 3 4
  • SMAC 3 4
  • Diablo-Like Protein 3
  • DFNA64 3

External Ids for DIABLO Gene

Previous GeneCards Identifiers for DIABLO Gene

  • GC12M121129
  • GC12M121217
  • GC12M121258
  • GC12M122692
  • GC12M119654

Summaries for DIABLO Gene

Entrez Gene Summary for DIABLO Gene

  • 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]

GeneCards Summary for DIABLO Gene

DIABLO (Diablo IAP-Binding Mitochondrial Protein) is a Protein Coding gene. Diseases associated with DIABLO include deafness, autosomal dominant 64 and dfna64 nonsyndromic hearing loss and deafness. Among its related pathways are Apoptosis Modulation and Signaling and Apoptosis - multiple species.

UniProtKB/Swiss-Prot for DIABLO Gene

  • 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.

Gene Wiki entry for DIABLO Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DIABLO Gene

Genomics for DIABLO Gene

Regulatory Elements for DIABLO Gene

Enhancers for DIABLO Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DIABLO on UCSC Golden Path with GeneCards custom track

Promoters for DIABLO Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DIABLO on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the DIABLO gene promoter:

Genomic Location for DIABLO Gene

Chromosome:
12
Start:
122,207,662 bp from pter
End:
122,227,534 bp from pter
Size:
19,873 bases
Orientation:
Minus strand

Genomic View for DIABLO Gene

Genes around DIABLO on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DIABLO Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DIABLO Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DIABLO Gene

Proteins for DIABLO Gene

  • Protein details for DIABLO Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NR28-DBLOH_HUMAN
    Recommended name:
    Diablo homolog, mitochondrial
    Protein Accession:
    Q9NR28
    Secondary Accessions:
    • B2RDQ0
    • Q6W3F3
    • Q96LV0
    • Q9BT11
    • Q9HAV6

    Protein attributes for DIABLO Gene

    Size:
    239 amino acids
    Molecular mass:
    27131 Da
    Quaternary structure:
    • Homodimer. Interacts with NGFRAP1/BEX3 (By similarity). Interacts with BIRC2/c-IAP1, BIRC3/c-IAP2, XIAP/BIRC4, BIRC6/bruce and BIRC7/livin. Interacts with the monomeric and dimeric form of BIRC5/survivin.

    Three dimensional structures from OCA and Proteopedia for DIABLO Gene

    Alternative splice isoforms for DIABLO Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DIABLO Gene

Proteomics data for DIABLO Gene at MOPED

Post-translational modifications for DIABLO Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for DIABLO (DIABLO)

No data available for DME Specific Peptides for DIABLO Gene

Domains & Families for DIABLO Gene

Protein Domains for DIABLO Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9NR28

UniProtKB/Swiss-Prot:

DBLOH_HUMAN :
  • The mature N-terminus mediates interaction with XIAP/BIRC4.
Domain:
  • The mature N-terminus mediates interaction with XIAP/BIRC4.
genes like me logo Genes that share domains with DIABLO: view

No data available for Gene Families for DIABLO Gene

Function for DIABLO Gene

Molecular function for DIABLO Gene

UniProtKB/Swiss-Prot 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. 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.
genes like me logo Genes that share phenotypes with DIABLO: view

Human Phenotype Ontology for DIABLO Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DIABLO Gene

MGI Knock Outs for DIABLO:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for DIABLO Gene

Localization for DIABLO Gene

Subcellular locations from UniProtKB/Swiss-Prot for DIABLO Gene

Mitochondrion. Note=Released into the cytosol when cells undergo apoptosis.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DIABLO Gene COMPARTMENTS Subcellular localization image for DIABLO gene
Compartment Confidence
cytosol 5
mitochondrion 5
plasma membrane 4
nucleus 3
peroxisome 2
cytoskeleton 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for DIABLO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA,IDA --
genes like me logo Genes that share ontologies with DIABLO: view

Pathways & Interactions for DIABLO Gene

genes like me logo Genes that share pathways with DIABLO: view

SIGNOR curated interactions for DIABLO Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for DIABLO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008625 extrinsic apoptotic signaling pathway via death domain receptors TAS 10950947
GO:0008631 intrinsic apoptotic signaling pathway in response to oxidative stress IEA --
GO:0008635 activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c IEA --
GO:0043065 positive regulation of apoptotic process TAS 18309324
GO:0051402 neuron apoptotic process IEA --
genes like me logo Genes that share ontologies with DIABLO: view

Drugs & Compounds for DIABLO Gene

(15) Drugs for DIABLO Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
LCL161 Pharma Antagonist of IAPs inhibitor, Inhibitor of apoptosis proteins (IAPS) antagonist 0

(16) Additional Compounds for DIABLO Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for DIABLO Gene

Compound Action Cas Number
LCL161 Antagonist of IAPs inhibitor 1005342-46-0
genes like me logo Genes that share compounds with DIABLO: view

Transcripts for DIABLO Gene

Unigene Clusters for DIABLO Gene

Diablo, IAP-binding mitochondrial protein:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DIABLO Gene

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:

Relevant External Links for DIABLO Gene

GeneLoc Exon Structure for
DIABLO
ECgene alternative splicing isoforms for
DIABLO

Expression for DIABLO Gene

mRNA expression in normal human tissues for DIABLO Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for DIABLO Gene



SOURCE GeneReport for Unigene cluster for DIABLO Gene Hs.169611

mRNA Expression by UniProt/SwissProt for DIABLO Gene

Q9NR28-DBLOH_HUMAN
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.
genes like me logo Genes that share expression patterns with DIABLO: view

Protein tissue co-expression partners for DIABLO Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues and Protein differential expression in normal tissues for DIABLO Gene

Orthologs for DIABLO Gene

This gene was present in the common ancestor of chordates.

Orthologs for DIABLO Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DIABLO 35
  • 88.61 (n)
  • 90.3 (a)
DIABLO 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DIABLO 35
  • 90.3 (n)
  • 90.72 (a)
DIABLO 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Diablo 35
  • 84.67 (n)
  • 85.65 (a)
Diablo 16
Diablo 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DIABLO 35
  • 99.44 (n)
  • 99.44 (a)
DIABLO 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DIABLO 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DIABLO 36
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves DIABLO 35
  • 67.38 (n)
  • 64.38 (a)
DIABLO 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DIABLO 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia diablo 35
  • 59.53 (n)
  • 53.71 (a)
Str.8735 35
zebrafish
(Danio rerio)
Actinopterygii diabloa 36
  • 35 (a)
OneToMany
diablob 36
  • 38 (a)
OneToMany
Species with no ortholog for DIABLO:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DIABLO Gene

ENSEMBL:
Gene Tree for DIABLO (if available)
TreeFam:
Gene Tree for DIABLO (if available)

Paralogs for DIABLO Gene

No data available for Paralogs for DIABLO Gene

Variants for DIABLO Gene

Sequence variations from dbSNP and Humsavar for DIABLO Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
VAR_066487 Deafness, autosomal dominant, 64 (DFNA64)
rs7133615 -- 122,212,014(+) ttttt(A/T)aatta intron-variant
rs10846470 -- 122,223,961(+) ACACC(C/T)GGCTA intron-variant
rs7298397 -- 122,209,153(+) GTCAG(A/G)AGTTC intron-variant
rs12816499 -- 122,223,530(+) ctgat(A/T)atcag intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DIABLO Gene

Variant ID Type Subtype PubMed ID
esv2659676 CNV Deletion 23128226

Variation tolerance for DIABLO Gene

Residual Variation Intolerance Score: 63% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.98; 20.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DIABLO Gene

HapMap Linkage Disequilibrium report
DIABLO

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DIABLO Gene

Disorders for DIABLO Gene

MalaCards: The human disease database

(4) MalaCards diseases for DIABLO Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal dominant 64
  • deafness, autosomal dominant, 64
dfna64 nonsyndromic hearing loss and deafness
  • deafness, autosomal dominant 64
autosomal dominant non-syndromic sensorineural deafness type dfna
  • autosomal dominant isolated neurosensory deafness type dfna
lung cancer
  • lung cancer, protection against
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DBLOH_HUMAN
  • 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 mutations affecting the gene represented in this entry.

Relevant External Links for DIABLO

Genetic Association Database (GAD)
DIABLO
Human Genome Epidemiology (HuGE) Navigator
DIABLO
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DIABLO
genes like me logo Genes that share disorders with DIABLO: view

No data available for Genatlas for DIABLO Gene

Publications for DIABLO Gene

  1. Functional mutation of SMAC/DIABLO, encoding a mitochondrial proapoptotic protein, causes human progressive hearing loss DFNA64. (PMID: 21722859) Cheng J. … Yuan H. (Am. J. Hum. Genet. 2011) 2 3 4 67
  2. [Interference of survivin in pancreatic cancer Bx-PC3 cell line with Smac sensitizing its response to cisplatin]. (PMID: 19500507) Li X.J. … Ren H. (Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi 2009) 3 23
  3. SMAC-expression in denervated human skeletal muscle as a potential inhibitor of coexpressed inhibitor-of-apoptosis proteins. (PMID: 18091317) Tews D.S. … Schindler S. (Appl. Immunohistochem. Mol. Morphol. 2008) 3 23
  4. Inhibition of fibroblast growth factor 2-induced apoptosis involves survivin expression, protein kinase C alpha activation and subcellular translocation of Smac in human small cell lung cancer cells. (PMID: 18401527) Xiao D. … Wen J. (Acta Biochim. Biophys. Sin. (Shanghai) 2008) 3 23
  5. Multimolecular complex of Par-4 and E2F1 binding to Smac promoter contributes to glutamate-induced apoptosis in human- bone mesenchymal stem cells. (PMID: 18660514) Lu C. … Yuan C.S. (Nucleic Acids Res. 2008) 3 23

Products for DIABLO Gene

Sources for DIABLO Gene

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