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Aliases for DIABLO Gene

Aliases for DIABLO Gene

  • Diablo IAP-Binding Mitochondrial Protein 2 3 5
  • Second Mitochondria-Derived Activator Of Caspase 2 3 4
  • Direct IAP-Binding Protein With Low PI 3 4
  • SMAC 3 4
  • Diablo, IAP-Binding Mitochondrial Protein 2
  • Diablo Homolog, Mitochondrial 3
  • 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 and survival Caspase cascade and Apoptosis and Autophagy.

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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G122365 1.6 Ensembl ENCODE dbSUPER 11.4 -140.4 -140352 4.8 PKNOX1 FOXA2 CREB3L1 ARNT ARID4B FEZF1 DMAP1 ZNF2 ZNF766 FOS CLIP1 SETD1B DIABLO ENSG00000252192 VPS33A ENSG00000256861 ZCCHC8 RPL21P1 CLIP1-AS1
GH12G122054 1.5 Ensembl ENCODE dbSUPER 10.7 +172.1 172123 2.4 PKNOX1 FOXA2 MLX SIN3A ARID4B DMAP1 ZNF2 ZNF48 YY1 ZNF121 LOC100506691 LRRC43 B3GNT4 DIABLO MLXIP ENSG00000255856
GH12G122050 1.5 Ensembl ENCODE dbSUPER 10.7 +176.2 176150 1.5 FOXA2 ARNT MLX ARID4B YY1 TCF12 GLIS2 GATA2 PAF1 SP5 BCL7A ENSG00000255856 LRRC43 B3GNT4 DIABLO MLXIP LOC100506691
GH12G122002 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.5 +222.6 222648 4.1 HINFP YBX1 ZNF121 ZNF366 POLR2A MTA2 ZBTB2 BHLHE40 NRF1 ZBTB7A WDR66 PSMD9 HPD SETD1B LINC01089 ENSG00000256950 LRRC43 B3GNT4 DIABLO BCL7A
GH12G122071 1.4 Ensembl ENCODE dbSUPER 10.9 +154.9 154925 1.5 HDAC1 PKNOX1 ATF1 ARNT SIN3A FEZF1 YY1 GLIS2 GATA2 EGR1 LOC100506691 DIABLO LRRC43 MLXIP
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000058575 1734 1601 HDGF PKNOX1 MLX CREB3L1 ARNT AGO1 WRNIP1 ARID4B SIN3A DMAP1

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 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

Post-translational modifications for DIABLO Gene

  • Ubiquitinated by BIRC7/livin.
  • Ubiquitination at isoforms=2, 3123, Lys191, and isoforms=2, 3207
  • Modification sites at PhosphoSitePlus

Antibody Products

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

Assay Products

  • Abcam assays for DIABLO

No data available for DME Specific Peptides for DIABLO Gene

Domains & Families for DIABLO Gene

Gene Families for DIABLO Gene

Protein Domains for DIABLO Gene

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

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.

Gene Ontology (GO) - Molecular Function for DIABLO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11604410
genes like me logo Genes that share ontologies with DIABLO: view
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

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DIABLO gene
Compartment Confidence
mitochondrion 5
cytosol 5
plasma membrane 4
nucleus 3
peroxisome 2
extracellular 1
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 IDA,IEA --
GO:0005758 mitochondrial intermembrane space TAS 18309324
GO:0005829 cytosol TAS --
GO:0009898 cytoplasmic side of plasma membrane ISS --
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:0006915 apoptotic process TAS,IEA 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 IEA --
GO:0008635 activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c TAS,IEA --
genes like me logo Genes that share ontologies with DIABLO: view

Drugs & Compounds for DIABLO Gene

(18) 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

(13) 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

Drug Products

Transcripts for DIABLO Gene

Unigene Clusters for DIABLO Gene

Diablo, IAP-binding mitochondrial protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for DIABLO Gene



Protein tissue co-expression partners for DIABLO Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DIABLO Gene:

DIABLO

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.

Evidence on tissue expression from TISSUES for DIABLO Gene

  • Liver(4.5)
  • Muscle(4.4)
  • Stomach(4.4)
  • Nervous system(4)
  • Intestine(2.5)
  • Lung(2.4)
  • Blood(2.3)
  • Kidney(2.3)
  • Heart(2.2)
  • Adrenal gland(2)
  • Bone marrow(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DIABLO Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • head
  • inner ear
  • middle ear
  • outer ear
Thorax:
  • heart
  • heart valve
Limb:
  • forearm
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with DIABLO: view

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
chimpanzee
(Pan troglodytes)
Mammalia DIABLO 34 35
  • 99.44 (n)
dog
(Canis familiaris)
Mammalia DIABLO 34 35
  • 90.3 (n)
cow
(Bos Taurus)
Mammalia DIABLO 34 35
  • 88.61 (n)
mouse
(Mus musculus)
Mammalia Diablo 34 16 35
  • 84.67 (n)
oppossum
(Monodelphis domestica)
Mammalia DIABLO 35
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DIABLO 35
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves DIABLO 34 35
  • 67.38 (n)
lizard
(Anolis carolinensis)
Reptilia DIABLO 35
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia diablo 34
  • 59.53 (n)
Str.8735 34
zebrafish
(Danio rerio)
Actinopterygii diablob 35
  • 38 (a)
OneToMany
diabloa 35
  • 35 (a)
OneToMany
Species where no ortholog for DIABLO was found in the sources mined by GeneCards:
  • 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
rs387906893 Pathogenic, Deafness, autosomal dominant, 64 (DFNA64) [MIM:614152] 122,216,808(-) GAATT(C/T)AGAGG reference, missense
rs202028496 Likely benign 122,226,007(+) TCAGA(C/G)CCGCC upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs574777883 Likely benign 122,224,520(+) TGCAA(C/T)AGGAA intron-variant, upstream-variant-2KB, reference, missense
rs1057519151 Uncertain significance 122,208,389(-) GAGGC(-/CTACCTGCGTG)AGGAT downstream-variant-500B, reference, utr-variant-3-prime, frameshift-variant
rs139511903 Uncertain significance 122,225,996(+) CAGCC(A/T)ACTCT upstream-variant-2KB, reference, missense, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
esv2659676 CNV deletion 23128226
esv3630970 CNV loss 21293372
nsv1134269 CNV deletion 24896259
nsv475807 CNV novel sequence insertion 20440878

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

Human Gene Mutation Database (HGMD)
DIABLO
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DIABLO

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

Disorders for DIABLO Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
deafness, autosomal dominant 64
  • autosomal dominant nonsyndromic deafness 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
myasthenic syndrome, congenital, 13, with tubular aggregates
  • congenital myasthenic syndrome 13
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 64
  2. Smac3, a novel Smac/DIABLO splicing variant, attenuates the stability and apoptosis-inhibiting activity of X-linked inhibitor of apoptosis protein. (PMID: 14523016) Fu J. … Arend L.J. (J. Biol. Chem. 2003) 3 4 22 64
  3. Smac, a mitochondrial protein that promotes cytochrome c-dependent caspase activation by eliminating IAP inhibition. (PMID: 10929711) Du C. … Wang X. (Cell 2000) 3 4 22 64
  4. Structural basis for binding of Smac/DIABLO to the XIAP BIR3 domain. (PMID: 11140637) Liu Z. … Fesik S.W. (Nature 2000) 3 4 22 64
  5. Survivin monomer plays an essential role in apoptosis regulation. (PMID: 21536684) Pavlyukov M.S. … Shakhparonov M.I. (J. Biol. Chem. 2011) 3 4 64

Products for DIABLO Gene

Sources for DIABLO Gene

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