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DIABLO Gene

protein-coding   GIFtS: 66
GCID: GC12M122692

Diablo, IAP-Binding Mitochondrial Protein

  See DIABLO-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Diablo, IAP-Binding Mitochondrial Protein1 2     DFNA642 5
Second Mitochondria-Derived Activator Of Caspase1 2 3     Diablo Homolog, Mitochondrial2
SMAC2 3 5     Smac3
Direct IAP-Binding Protein With Low PI2 3     

External Ids:    HGNC: 215281   Entrez Gene: 566162   Ensembl: ENSG000001840477   OMIM: 6052195   UniProtKB: Q9NR283   
ORGUL members:         

Export aliases for DIABLO gene to outside databases

Previous GC identifers: GC12M121129 GC12M121217 GC12M121258 GC12M119654


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 nonsyndromic deafness.

UniProtKB/Swiss-Prot: DBLOH_HUMAN, Q9NR28
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 Wiki entry for DIABLO (Diablo homolog) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the DIABLO gene promoter:
         AREB6   p53   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): DIABLO promoter sequence
   Search Chromatin IP Primers for DIABLO

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DIABLO


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q24.31   Ensembl cytogenetic band:  12q24.31   HGNC cytogenetic band: 12q24.31

DIABLO Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DIABLO gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M122692:  view genomic region     (about GC identifiers)

Start:
122,692,209 bp from pter      End:
122,712,081 bp from pter
Size:
19,873 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for DIABLO

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: DBLOH_HUMAN, Q9NR28 (See protein sequence)
Recommended Name: Diablo homolog, mitochondrial precursor  
Size: 239 amino acids; 27131 Da
Subunit: 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
Selected PDB 3D structures from and Proteopedia for DIABLO (see all 9):
1FEW (3D)        1G3F (3D)        1G73 (3D)        1TW6 (3D)        1XB0 (3D)        1XB1 (3D)    
Secondary accessions: B2RDQ0 Q6W3F3 Q96LV0 Q9BT11 Q9HAV6
Alternative splicing: 3 isoforms:  Q9NR28-1   Q9NR28-2   Q9NR28-3   

Explore the universe of human proteins at neXtProt for DIABLO: NX_Q9NR28

Explore proteomics data for DIABLO at MOPED

Post-translational modifications: 

  • Ubiquitinated by BIRC7/livin1
  • Ubiquitination2 at Lys123, Lys191, Lys203, Lys207
  • Modification sites at PhosphoSitePlus

  • See DIABLO Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001265231.1  NP_001265232.1  NP_001265233.1  NP_001265271.1  NP_063940.1  NP_620308.1  

    ENSEMBL proteins: 
     ENSP00000320343   ENSP00000398495   ENSP00000442360   ENSP00000339963   ENSP00000267169  
     ENSP00000390818   ENSP00000440971   ENSP00000442669   ENSP00000441139   ENSP00000440653  
     ENSP00000390103   ENSP00000438710   ENSP00000411638  
    Reactome Protein details: Q9NR28

    DIABLO Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for DIABLO (SMAC/Diablo)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for DIABLO
    OriGene Protein Over-expression Lysate for DIABLO
    OriGene MassSpec for DIABLO
    OriGene Custom Protein Services for DIABLO
    GenScript Custom Purified and Recombinant Proteins Services for DIABLO
    Novus Biologicals DIABLO Proteins
    Novus Biologicals DIABLO Lysates
    Sino Biological Recombinant Protein for DIABLO
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for DIABLO
    Cloud-Clone Corp. Proteins for DIABLO

     
    Search eBioscience for Proteins for DIABLO 

     
    antibodies-online proteins for DIABLO (15 products) 

     
    antibodies-online peptides for DIABLO

    DIABLO Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of DIABLO
    R&D Systems Antibodies for DIABLO (SMAC/Diablo)
    Cell Signaling Technology (CST) Antibodies for DIABLO 
    OriGene Antibodies for DIABLO
    OriGene Custom Antibody Services for DIABLO
    Novus Biologicals DIABLO Antibodies
    Abcam antibodies for DIABLO
    Cloud-Clone Corp. Antibodies for DIABLO
    ThermoFisher Antibody for DIABLO
    antibodies-online antibodies for DIABLO (135 products) 

    DIABLO Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for DIABLO
    R&D Systems ELISAs for DIABLO (SMAC/Diablo)         (see all)
    GenScript Custom Assay Services for DIABLO
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for DIABLO
    Cloud-Clone Corp. CLIAs for DIABLO
    Search eBioscience for ELISAs for DIABLO 
    antibodies-online kits for DIABLO (7 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR015142 Smac_DIABLO
     IPR009062 Smac_DIABLO-like

    Graphical View of Domain Structure for InterPro Entry Q9NR28

    ProtoNet protein and cluster: Q9NR28

    UniProtKB/Swiss-Prot: DBLOH_HUMAN, Q9NR28
    Domain: The mature N-terminus mediates interaction with XIAP/BIRC4


    Find genes that share domains with DIABLO           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DBLOH_HUMAN, Q9NR28
    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): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11604410
         
    Find genes that share ontologies with DIABLO           About GenesLikeMe


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Diablo):
     behavior/neurological  cellular  growth/size/body  normal 

    Find genes that share phenotypes with DIABLO           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Diablotm1Mak for DIABLO

       genOway: Develop your customized and physiologically relevant rodent model for DIABLO

    miRNA
    Products:
        
    miRTarBase miRNAs that target DIABLO:
    hsa-mir-34a-5p (MIRT047377), hsa-mir-16-5p (MIRT031535), hsa-mir-26b-5p (MIRT029197), hsa-mir-29a-3p (MIRT005907)

    Block miRNA regulation of human, mouse, rat DIABLO using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate DIABLO:
    hsa-miR-29c hsa-miR-29a hsa-miR-4293 hsa-miR-29b
    SwitchGear 3'UTR luciferase reporter plasmidDIABLO 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for DIABLO
    Predesigned siRNA for gene silencing in human, mouse, rat DIABLO

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for DIABLO

    Clone
    Products:
         
    OriGene clones in human, mouse for DIABLO (see all 14)
    OriGene ORF clones in mouse, rat for DIABLO
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): DIABLO (NM_019887)
    Sino Biological Human cDNA Clone for DIABLO
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DIABLO
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DIABLO
    Addgene plasmids for DIABLO 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for DIABLO
    Browse ESI BIO Cell Lines and PureStem Progenitors for DIABLO 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIABLO


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DBLOH_HUMAN, Q9NR28: Mitochondrion. Note=Released into the cytosol when cells undergo apoptosis
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol4
    plasma membrane3
    nucleus2
    peroxisome2
    cytoskeleton1
    endoplasmic reticulum1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IDA--
    GO:0005758mitochondrial intermembrane space TAS18309324
    GO:0005829cytosol TAS--
    GO:0009898cytoplasmic side of plasma membrane ISS--

    Find genes that share ontologies with DIABLO           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for DIABLO About   (see all 13)  
    See pathways by source

    SuperPathContained pathways About
    1Apoptosis and survival Caspase cascade
    Apoptosis and survival FAS signaling cascades0.44
    Caspase cascade in apoptosis0.42
    2Apoptosis Signaling Pathways
    Apoptosis and survival Apoptotic TNF family pathways0.35
    Apoptosis Signaling Pathways0.35
    3Activation of BH3-only proteins
    Intrinsic Pathway for Apoptosis0.68
    Release of apoptotic factors from the mitochondria0.00
    Apoptotic factor-mediated response0.00
    4Activation of caspases through apoptosome-mediated cleavage
    SMAC-mediated apoptotic response0.43
    SMAC binds to IAPs0.00
    SMAC-mediated dissociation of IAP-caspase complexes0.00
    5Apoptosis (WikiPathways)
    Apoptosis0.38
    Apoptosis Modulation and Signaling0.38


    Find genes that share SuperPaths with DIABLO           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for DIABLO
        Apoptosis Signaling Pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for DIABLO (see all 8)
        Caspase Cascade
    LT-BetaR Pathway
    Apoptosis through Death Receptors
    Apoptotic Pathways Triggered By HIV1
    Mitochondrial Apoptosis

    1 Cell Signaling Technology (CST) Pathway for DIABLO
        Apoptosis and Autophagy

    5 GeneGo (Thomson Reuters) Pathways for DIABLO
        Apoptosis and survival Apoptotic TNF-family pathways
    Apoptosis and survival FAS signaling cascades
    Apoptosis and survival Lymphotoxin-beta receptor signaling
    Apoptosis and survival TNFR1 signaling pathway
    Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins

    4 BioSystems Pathways for DIABLO
        Apoptosis
    Apoptosis Modulation and Signaling
    Caspase cascade in apoptosis
    p75(NTR)-mediated signaling

    2 Sino Biological Pathways for DIABLO
        p53 Pathway
    Death Receptor Signaling

    3 Reactome Pathways for DIABLO
        Release of apoptotic factors from the mitochondria
    SMAC-mediated dissociation of IAP:caspase complexes
    SMAC binds to IAPs


        Pathway & Disease-focused RT2 Profiler PCR Arrays including DIABLO: 
              Apoptosis 384HT in human mouse rat
              Apoptosis in human mouse rat
              Ubiquitin Ligases in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for DIABLO

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for DIABLO (Q9NR281, 2, 3 ENSP000002671694) via UniProtKB, MINT, STRING, and/or I2D (see all 54)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRKCDQ056551, 2EBI-517508,EBI-704279 MINT-8328987 MINT-8329313 MINT-8328976 MINT-8329001
    EEF1A1P681042, 3MINT-8254111 I2D: score=2 
    HSPD1P108092, ENSP000003400194MINT-7965841 MINT-7965791 MINT-8152405 MINT-7965857 MINT-8152389 STRING: ENSP00000340019
    XIAPP981701, 2, 3, ENSP000003478584EBI-517508,EBI-517127 MINT-15031 MINT-8329354 I2D: score=7 STRING: ENSP00000347858
    BIRC2Q134901, 3, ENSP000002277584EBI-517508,EBI-514538 I2D: score=4 STRING: ENSP00000227758
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process TAS--
    GO:0006919activation of cysteine-type endopeptidase activity involved in apoptotic process TAS18309324
    GO:0008625extrinsic apoptotic signaling pathway via death domain receptors TAS10950947
    GO:0008631intrinsic apoptotic signaling pathway in response to oxidative stress IEA--
    GO:0008635activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c IEA--

    Find genes that share ontologies with DIABLO           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DIABLO (DBLOH)

    Selected Novoseek inferred chemical compound relationships for DIABLO gene (see all 30)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ciap2 76.3 2 16892011 (1), 16957584 (1)
    ciap1 75.1 8 16892011 (1), 12525502 (1), 16957584 (1)
    noxa 66.9 3 20179203 (2), 16982768 (1)
    ceramide 53.4 4 15905098 (2), 17556754 (1)
    tetrapeptide 52.1 3 11242052 (1), 18956862 (1)
    bortezomib 44.8 3 15217830 (1), 20179203 (1), 17032924 (1)
    sp 600125 44.2 1 12665525 (1)
    curcumin 42.8 10 15205359 (2), 15661804 (2), 14604899 (1), 17332930 (1)
    mg 132 40.2 1 16082182 (1)
    vitamin e succinate 38.8 1 12680782 (1)



    Find genes that share compounds with DIABLO           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DIABLO gene (7 alternative transcripts): 
    NM_001278302.1  NM_001278303.1  NM_001278304.1  NM_001278342.1  NM_019887.5  NM_138930.3  NM_138929.3  

    Unigene Cluster for DIABLO:

    Diablo, IAP-binding mitochondrial protein
    Hs.169611  [show with all ESTs]
    Unigene Representative Sequence: AK001399
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000353548 ENST00000443649(uc010taa.2 uc010tab.2) ENST00000464942
    ENST00000342392 ENST00000267169 ENST00000439489 ENST00000541273 ENST00000474004
    ENST00000540535 ENST00000541656 ENST00000446652 ENST00000489781 ENST00000485724
    ENST00000475784 ENST00000413918(uc010tac.2 uc010tad.2)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat DIABLO using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate DIABLO:
    hsa-miR-29c hsa-miR-29a hsa-miR-4293 hsa-miR-29b
    SwitchGear 3'UTR luciferase reporter plasmidDIABLO 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for DIABLO
    Predesigned siRNA for gene silencing in human, mouse, rat DIABLO
    Clone
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    OriGene clones in human, mouse for DIABLO (see all 14)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): DIABLO (NM_019887)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DIABLO
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DIABLO
    Addgene plasmids for DIABLO 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for DIABLO
    OriGene qSTAR qPCR primer pairs in human, mouse for DIABLO
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DIABLO
      QuantiTect SYBR Green Assays in human, mouse, rat DIABLO
      QuantiFast Probe-based Assays in human, mouse, rat DIABLO

    Additional mRNA sequence: 

    AF262240.1 AF298770.1 AK001399.1 AK024768.1 AK057778.1 AK222664.1 AK315629.1 AY313210.1 
    BC004417.1 BC011909.2 BC046209.1 BC095468.1 JX679472.1 NR_024600.1 NR_024601.1 

    21 DOTS entries:

    DT.451071  DT.100819622  DT.100819625  DT.100819627  DT.121199680  DT.101959359  DT.95176311  DT.100819628 
    DT.100031197  DT.92010140  DT.121199709  DT.100665276  DT.100749478  DT.100642512  DT.121199744  DT.99971509 
    DT.95360894  DT.97847827  DT.92442635  DT.95116608  DT.95125318 

    Selected AceView cDNA sequences (see all 436):

    BC011909 AA371471 BM771549 AI951316 AA024961 CR598498 BU678922 CR612340 
    NM_138929 BM766238 CD742753 BC016617 BU620721 BM799174 BF724951 BQ018951 
    AW238830 AF298770 BX119840 BU620809 AY313210 CD251288 CB158118 AA326319 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DIABLO (see all 14)    About this scheme

    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:                                            -     -     -     -     -     -     -     -     -                             -                                 

    ExUns: 11f · 11g · 11h · 11i · 11j
    SP1:                              
    SP2:                              
    SP3:                              
    SP4:                              
    SP5:                              


    ECgene alternative splicing isoforms for DIABLO

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    DIABLO expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCTTAAGTT
    DIABLO Expression
    About this image


    DIABLO expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    DIABLO Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DIABLO Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.169611

    UniProtKB/Swiss-Prot: DBLOH_HUMAN, Q9NR28
    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including DIABLO: 
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              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of chordates.

    Orthologs for DIABLO gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Diablo1 , 5 diablo homolog (Drosophila)1, 5 84.67(n)1
    85.65(a)1
      5 (63.02 cM)5
    665931  NM_023232.31  NP_075721.31 
     1235097655 
    chicken
    (Gallus gallus)
    Aves DIABLO1 diablo, IAP-binding mitochondrial protein 67.38(n)
    64.38(a)
      416860  XM_415152.4  XP_415152.3 
    lizard
    (Anolis carolinensis)
    Reptilia DIABLO6
    diablo, IAP-binding mitochondrial protein
    60(a)
    1 ↔ 1
    GL343423.1(5918-9674)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.87352 Transcribed sequence with weak similarity to protein more 73.03(n)    AL968779.2 
    zebrafish
    (Danio rerio)
    Actinopterygii diablob6
    diabloa6
    diablo, IAP-binding mitochondrial protein a
    38(a)
    35(a)
    many → 1
    many → 1
    21(20410276-20415177) ENSDARG00000014956
    8(5862379-5865902) ENSDARG00000035323


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for DIABLO (see all 570)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0664874
    Deafness, autosomal dominant, 64 (DFNA64)4--see VAR_0664872 S L mis40--------
    rs2005673541,2
    --122507324(+) CTGAGA/GCGGCT 4 -- ds50010--------
    rs47586751,2
    C,F,H--122507325(-) CAGCCT/GCCTCA 4 -- ds500113Minor allele frequency- G:0.01NA WA CSA EU 6008
    rs79658041,2
    C,F--122507326(+) GAGGCG/AGCTGG 4 -- ds50011Minor allele frequency- A:0.00NA 4548
    rs1887869851,2
    C--122507343(+) GCCCTA/GTGCAC 4 -- ds50010--------
    rs1449322991,2
    C,F--122507354(+) CATGCT/CGGCTT 4 -- ds50012Minor allele frequency- C:0.00NA EU 5871
    rs1486449651,2
    C--122507359(+) TGGCTT/GCAAGA 4 -- ds50011Minor allele frequency- G:0.00NA 4550
    rs1423441421,2
    C--122507377(+) AATCCG/AGCGGC 4 -- ds50011Minor allele frequency- A:0.00NA 4546
    rs2013851201,2
    --122507391(+) TGGACC/TCCTTA 4 -- ds50010--------
    rs1464610221,2
    C,F--122507434(+) TCACCG/ACCTCA 4 -- ds50011Minor allele frequency- A:0.00NA 4538

    HapMap Linkage Disequilibrium report for DIABLO (122692209 - 122712081 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for DIABLO:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2659676CNV Deletion23128226

    Human Gene Mutation Database (HGMD): DIABLO
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DIABLO
    DNA2.0 Custom Variant and Variant Library Synthesis for DIABLO

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 605219   
    OMIM disorders: 614152  
    UniProtKB/Swiss-Prot: DBLOH_HUMAN, Q9NR28
  • 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 6 diseases for DIABLO:    
    About MalaCards
    deafness, autosomal dominant 64    nonsyndromic deafness    inverted papilloma    deafness, autosomal dominant 4b
    colon cancer    lung cancer

    1 disease from the University of Copenhagen DISEASES database for DIABLO:
    Cancer

    Find genes that share disorders with DIABLO           About GenesLikeMe

    Selected Novoseek inferred disease relationships for DIABLO gene (see all 29)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 55.8 47 19550293 (4), 19739098 (3), 17611406 (3), 12511567 (2) (see all 27)
    glioblastoma 53.1 1 16288043 (1)
    tumors 44.7 59 18279617 (6), 18937395 (4), 16091752 (4), 15010875 (4) (see all 24)
    necrosis 42.9 9 19739098 (1), 12121969 (1), 18937395 (1), 18606854 (1) (see all 9)
    colon cancer 36.7 9 18172320 (3), 15557007 (2), 17630921 (1), 12670894 (1) (see all 5)
    rhabdomyosarcoma alveolar 30.9 1 12752217 (1)
    acute leukemia 30.8 4 16928290 (1), 16638183 (1)
    leukemia 23.8 4 16638183 (2)
    nsclc 15.9 19 16687088 (4), 17291493 (3), 18359697 (3), 20210890 (3) (see all 7)
    hepatocellular carcinoma 15.8 5 18822208 (2), 12792804 (2), 17085346 (1)

    Genetic Association Database (GAD): DIABLO
    Human Genome Epidemiology (HuGE) Navigator: DIABLO (4 documents)

    Export disorders for DIABLO gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DIABLO gene, integrated from 10 sources (see all 432):
    (articles sorted by number of sources associating them with DIABLO)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Functional mutation of SMAC/DIABLO, encoding a mitochondrial proapoptotic protein, causes human progressive hearing loss DFNA64. (PubMed id 21722859)1, 2, 3 Cheng J.... Yuan H. (Am. J. Hum. Genet. 2011)
    2. Smac3, a novel Smac/DIABLO splicing variant, attenuates the stability and apoptosis-inhibiting activity of X-linked inhibitor of apoptosis protein. (PubMed id 14523016)1, 2, 9 Fu J.... Arend L.J. (J. Biol. Chem. 2003)
    3. Smac, a mitochondrial protein that promotes cytochrome c-dependent caspase activation by eliminating IAP inhibition. (PubMed id 10929711)1, 2, 9 Du C.... Wang X. (Cell 2000)
    4. Dual role of BRUCE as an antiapoptotic IAP and a chimeric E2/E3 ubiquitin ligase. (PubMed id 15200957)1, 2, 9 Bartke T.... Jentsch S. (Mol. Cell 2004)
    5. Structural basis for binding of Smac/DIABLO to the XIAP BIR3 domain. (PubMed id 11140637)1, 2, 9 Liu Z.... Fesik S.W. (Nature 2000)
    6. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    7. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    8. SMAC/Diablo mediates the proapoptotic function of PUMA by regulating PUMA-induced mitochondrial events. (PubMed id 17237824)1, 3 Yu J....Zhang L. (Oncogene 2007)
    9. Livin promotes Smac/DIABLO degradation by ubiquitin-proteasome pathway. (PubMed id 16729033)1, 2 Ma L....Wu M. (Cell Death Differ. 2006)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 56616 HGNC: 21528 AceView: DIABLOandVPS33A Ensembl:ENSG00000184047 euGenes: HUgn56616
    ECgene: DIABLO H-InvDB: DIABLO

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DIABLO Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for DIABLO gene:
    Search GeneIP for patents involving DIABLO

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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