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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DIABLO Gene

protein-coding   GIFtS: 66
GCID: GC12M122692

Diablo, IAP-Binding Mitochondrial Protein

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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
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:         
NONCODE14:n407099 n407098      

Export aliases for DIABLO gene to outside databases

Previous GC identifers: GC12M121129 GC12M121217 GC12M121258 GC12M119654


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and is affiliated with the lncRNA class. Diseases associated with DIABLO include caspase-8 deficiency, and burkitt's lymphoma, and among its related super-pathways are Apoptosis and survival Caspase cascade and Apoptosis Signaling Pathways. GO annotations related to this gene include protein binding.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.2  NT_009755.19  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for DIABLO

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Mitochondrion. Note=Released into the cytosol when cells undergo apoptosis
6/9 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:

  • UniProtKB: Ubiquitinated by BIRC7/livin
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NR28

  • DIABLO Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DIABLO Protein Expression
    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
    Human Recombinant Protein Products for DIABLO: 
    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 Protein 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 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

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

    DIABLO for ontologies           About GeneDecksing



    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 
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    Novus Biologicals DIABLO Antibodies
    Abcam antibodies for DIABLO
    Cloud-Clone Corp. Antibodies for DIABLO 
    ThermoFisher Antibody for DIABLO
    LSBio Antibodies in human, mouse, rat for DIABLO 

    Assay Products for DIABLO: 
    Browse Kits and Assays available from EMD Millipore
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    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


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    DIABLO for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11604410
         
    DIABLO for ontologies           About GeneDecksing


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

    DIABLO for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Diablotm1Mak for DIABLO

       inGenious Targeting Laboratory - Custom generated mouse model solutions for DIABLO 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DIABLO

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DIABLO 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DIABLO 

    miRNA
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    miRTarBase miRNAs that target DIABLO:
    hsa-mir-29a (MIRT005907)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DIABLO
    4 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for DIABLO
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DIABLO

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of DIABLO

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    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
    Sirion Biotech Customized lentivirus for stable overexpression of DIABLO 
                         Customized lentivirus expression plasmids for stable overexpression of DIABLO 

    Cell Line
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    Search LifeMap BioReagents cell lines for DIABLO
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIABLO


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for DIABLO About   (see all 14)                                                                                              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 and survival Apoptotic TNF-family pathways
    Apoptosis and survival Apoptotic TNF-family pathways0.35
    Apoptosis Signaling Pathways0.35
    3Apoptotic factor-mediated response
    Apoptotic factor-mediated response0.71
    SMAC binds to IAPs 0.71
    SMAC-mediated dissociation of IAP:caspase complexes 0.71
    SMAC-mediated apoptotic response0.71
    4Apoptosis Modulation and Signaling
    Apoptosis0.38
    Apoptosis Modulation and Signaling0.38
    5Activation of BH3-only proteins
    Intrinsic Pathway for Apoptosis0.63

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 EMD Millipore Pathways for DIABLO
        Apoptosis and survival TNFR1 signaling pathway
    Apoptosis and survival FAS signaling cascades
    Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins
    Apoptosis and survival Apoptotic TNF-family pathways
    Apoptosis and survival Lymphotoxin-beta receptor signaling

    1 R&D Systems Pathway for DIABLO
        Apoptosis Signaling Pathways


    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
    p75(NTR)-mediated signaling
    Caspase cascade in apoptosis

    2 Sino Biological Pathways for DIABLO 
        p53 Pathway
    Death Receptor Signaling

    5/7        Reactome Pathways for DIABLO (see all 7)
        Release of apoptotic factors from the mitochondria
    SMAC-mediated dissociation of IAP:caspase complexes
    Intrinsic Pathway for Apoptosis
    SMAC binds to IAPs
    Apoptotic factor-mediated response



    DIABLO for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DIABLO

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

    5/55 Interacting proteins for DIABLO (Q9NR281, 2, 3 ENSP000002671694) via UniProtKB, MINT, STRING, and/or I2D (see all 55)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BIRC3Q134891, 3, ENSP000002634644EBI-517508,EBI-517709 I2D: score=4 STRING: ENSP00000263464
    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
    PRKCDQ056552MINT-8328987 MINT-8329313 MINT-8328976 MINT-8329001
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process TAS--
    GO:0006919activation of cysteine-type endopeptidase activity involved in apoptotic process TAS10972280
    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 TAS10929711

    DIABLO for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    DIABLO for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DIABLO (DBLOH)

    10/30 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)

    Search CenterWatch for drugs/clinical trials and news about DIABLO / DBLOH

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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)

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    SwitchGear 3'UTR luciferase reporter plasmidDIABLO 3' UTR sequence
    Inhib. RNA
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    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 

    24/436 AceView cDNA sequences (see all 436):

    NM_138930 CB158118 CF128595 BU170405 BU620721 CR621745 AW090030 BM766238 
    CR598154 AA371471 AI951316 AA024961 T11336 AL833244 BE791785 BM799174 
    CB118849 NM_022916 AI268019 AI139824 BM746689 BC016617 CD106297 BQ940109 

    GeneLoc Exon Structure

    5/14 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DIABLO expression in normal human tissues (normalized intensities)      DIABLO embryonic expression: see
    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 
     5/28 selected tissues (see all 28) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Cerebral Cortex
             ganglion/cranial/facial VII   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 4 entries
             autonomic/sympathetic/ganglion   
     
     Epithelium
             oral mucosa ; squamous epithelial cells   
     
     Uterus (Reproductive System)    fully expand to see all 3 entries
             uterus, post-menopause ; glandular cells   

    See DIABLO Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DIABLO

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including DIABLO: 
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              Apoptosis in human mouse rat
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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

    This gene was present in the common ancestor of chordates.

    Orthologs for DIABLO gene from 5/11 species (see all 11)    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 66.95(n)
    63.25(a)
      416860  XM_415152.3  XP_415152.2 
    lizard
    (Anolis carolinensis)
    Reptilia DIABLO6
    Uncharacterized 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 zgc:1587761 zgc:158776 52.03(n)
    47.09(a)
      570425  XM_002665942.2  XP_002665988.2 


    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
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/570 SNPs in DIABLO are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605219    OMIM disorders: --

    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

  • 20/46 diseases for DIABLO (see all 46):    About MalaCards
    caspase-8 deficiency    burkitt's lymphoma    chronic leukemia    clear cell renal cell carcinoma
    myeloma    multiple myeloma    cervical cancer    mycosis fungoides
    gastric adenocarcinoma    acute leukemia    colon cancer    lung cancer
    esophageal squamous cell carcinoma    sensorineural hearing loss    renal cell carcinoma    dilated cardiomyopathy
    gastric cancer    thyroid cancer    malignant glioma    hepatocellular carcinoma

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

    DIABLO for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/29 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)
    About This Section

    PubMed articles for DIABLO gene, integrated from 9 sources (see all 428):
    (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 mitoch ondrial proapoptotic protein, causes human progressive hearing loss DFNA64. (PubMed id 21722859)1, 2, 3 Cheng J....Yuan H. (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. (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. (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. (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. (2000)
    6. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    7. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (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. (2007)
    9. Livin promotes Smac/DIABLO degradation by ubiquitin-proteasome pathway. (PubMed id 16729033)1, 2 Ma L....Wu M. (2006)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 56616 HGNC: 21528 AceView: DIABLOandVPS33A Ensembl:ENSG00000184047 euGenes: HUgn56616
    ECgene: DIABLO H-InvDB: DIABLO

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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