DIABLO Gene
protein-coding GIFtS: 63
GCID: GC12M122692
|
|
diablo, IAP-binding mitochondrial protein
| |
Aliases
for DIABLO gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
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 | | FLJ250491 | | SMAC1 2 3 5 | | 0610041G12Rik2 | | DFNA641 2 | | SMAC32 | | DIABLO-S1 2 | | Diablo Homolog, Mitochondrial2 | | Direct IAP-Binding Protein With Low PI2 3 | | Mitochondrial Smac Protein2 | | Second Mitochondria-Derived Activator Of Caspase2 3 | | Smac3 | | FLJ105371 | | |
| External Ids: | HGNC: 215281 | Entrez Gene: 566162 | Ensembl: ENSG000001840477 | OMIM: 6052195 | UniProtKB: Q9NR283 |
|---|
| | ORGUL members: | |
|---|
| NONCODE:n407099 n407098 | |
Export aliases for DIABLO gene to outside databasesPrevious GC identifers: GC12M121129 GC12M121217 GC12M121258 GC12M119654
Summaries
for DIABLO gene(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:
This gene encodes an inhibitor of apoptosis protein (IAP)-binding protein. The encoded mitochondrial protein enters thecytosol when cells undergo apoptosis, and it moderates the caspase inhibition of IAPs. Multiple polyadenylation siteshave been found for this gene. Four alternatively spliced transcript variants have been described for this gene, withtwo of them encoding different isoforms and the other two probably not encoding a protein. (provided by RefSeq, Dec2008)
UniProtKB/Swiss-Prot: DBLOH_HUMAN, Q9NR28Function: Promotes apoptosis by activating caspases in the cytochrome c/Apaf-1/caspase-9 pathway. Acts by opposing theinhibitory activity of inhibitor of apoptosis proteins (IAP). Inhibits the activity of BIRC6/bruce by inhibiting itsbinding to caspases. Isoform 3 attenuates the stability and apoptosis-inhibiting activity of XIAP/BIRC4 by promotingXIAP/BIRC4 ubiquitination and degradation through the ubiquitin-proteasome pathway. Isoform 3 also disrupts XIAP/BIRC4interacting with processed caspase-9 and promotes caspase-3 activation. Isoform 1 is defective in the capacity todown-regulate the XIAP/BIRC4 abundance
Gene Wiki entry for DIABLO (Diablo homolog)
|
Genomic Views
for DIABLO 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000012.11 NC_018923.1 NT_009755.19
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the DIABLO gene promoter:
AREB6 p53 STAT3
Other transcription factors
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: 12q24.31DIABLO Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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)
122692208 122702138 122712068 chr12
|
Proteins
for DIABLO gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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 Q9HAV6Alternative splicing: 3 isoforms: Q9NR28-1 Q9NR28-2 Q9NR28-3 Explore the universe of human proteins at neXtProt for DIABLO: NX_Q9NR28
Post-translational modifications:
Ubiquitinated by BIRC7/livin1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9NR28
DIABLO Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_063940.1 NP_620307.1
ENSEMBL proteins: ENSP00000320343 ENSP00000398495 ENSP00000442360 ENSP00000339963 ENSP00000267169 ENSP00000390818 ENSP00000440971 ENSP00000442669 ENSP00000441139 ENSP00000440653 ENSP00000390103 ENSP00000438710 ENSP00000411638 Reactome Protein details: Q9NR28
Human Recombinant Protein Products:
Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table
DIABLO for ontologies About GeneDecksing
DIABLO Antibody Products:
Assay Products for DIABLO: |
Protein
Domains /
Families
for DIABLO gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DIABLO for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9NR28ProtoNet protein and cluster: Q9NR28 UniProtKB/Swiss-Prot: DBLOH_HUMAN, Q9NR28Domain: The mature N-terminus mediates interaction with XIAP/BIRC4 |
Function
for DIABLO gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: DBLOH_HUMAN, Q9NR28Function: Promotes apoptosis by activating caspases in the cytochrome c/Apaf-1/caspase-9 pathway. Acts by opposing theinhibitory activity of inhibitor of apoptosis proteins (IAP). Inhibits the activity of BIRC6/bruce by inhibiting itsbinding to caspases. Isoform 3 attenuates the stability and apoptosis-inhibiting activity of XIAP/BIRC4 by promotingXIAP/BIRC4 ubiquitination and degradation through the ubiquitin-proteasome pathway. Isoform 3 also disrupts XIAP/BIRC4interacting with processed caspase-9 and promotes caspase-3 activation. Isoform 1 is defective in the capacity todown-regulate the XIAP/BIRC4 abundance
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DIABLO (see all 6)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DIABLO (see all 2)
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 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIABLO |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005515 | protein binding |
IPI | -- |
DIABLO for ontologies About GeneDecksing
Animal Models:
Mouse knock-out Diablotm1Mak for DIABLO
4 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Diablo):
DIABLO for phenotypes About GeneDecksing
|
Pathways & Interactions
for DIABLO gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/11 super-pathways (see all 11) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Apoptotic factor-mediated response | | | 2 | Apoptosis and survival_Apoptotic TNF-family pathways | | | 3 | Apoptosis and survival_Caspase cascade | | | 4 | BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members | | | 5 | Apoptosis and survival_Lymphotoxin-beta receptor signaling | |
Pathway sources
See GeneCards unified pathways
Show all pathways
5 EMD Millipore Pathways for DIABLO
1  R&D Systems Pathway for DIABLO
1 
Cell Signaling Technology (CST) Pathway for DIABLO
5  GeneGo (Thomson Reuters) Pathways for DIABLO
4  BioSystems Pathways for DIABLO
5/7 
Reactome Pathways for DIABLO (see all 7)
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)About this table
Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006915 | apoptotic process |
TAS | -- | | GO:0006917 | induction of apoptosis |
IEA | -- | | GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process |
TAS | 10972280 | | GO:0008625 | extrinsic apoptotic signaling pathway via death domain receptors |
TAS | 10950947 | | GO:0008631 | intrinsic apoptotic signaling pathway in response to oxidative stress |
IEA | -- |
DIABLO for ontologies About GeneDecksing
|
Drugs & Compounds
for DIABLO gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, 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 Tocris compounds for DIABLO
10/30 Novoseek 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
|
Transcripts
for DIABLO gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
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,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for DIABLO gene (3 alternative transcripts): NM_019887.4 NM_138929.3 NM_138930.2 Unigene Cluster for DIABLO: Diablo, IAP-binding mitochondrial protein Hs.169611 [show with all ESTs]Unigene Representative Sequence: AK00139915 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)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DIABLO (see all 6)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DIABLO (see all 2)
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 |
Additional cDNA 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): CR598154 BM766003 W07124 CA430048 NM_022916 F05220 CR596276 CB125823 Z38247 CR615295 BQ018951 CR621745 CD742753 BM771549 AI139824 AW090030 BM672699 NM_138930 CB109416 AI951316 BQ940109 AA668767 BF724951 BM766238
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
|
Expression
for DIABLO gene
(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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCCTTAAGTT
About this image
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, Q9NR28Tissue 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 isubiquitously expressed
SABiosciences Expression via Pathway-Focused PCR Arrays including DIABLO:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DIABLO
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DIABLO | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DIABLO | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DIABLO | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIABLO |
Orthologs
for DIABLO gene
(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 5/12 species (see all 12) About this table
ENSEMBL Gene Tree for DIABLO (if available)
TreeFam Gene Tree for DIABLO (if available) |
Paralogs
for DIABLO gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for DIABLO gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 12 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for DIABLO (122692209 - 122712081 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for DIABLO: --
Human Gene Mutation Database (HGMD): DIABLO
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DIABLO |
|
Disorders
/ Diseases
for DIABLO gene
(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
|
DIABLO for disorders About GeneDecksing
OMIM gene information: 605219
OMIM disorders: --
UniProtKB/Swiss-Prot: DBLOH_HUMAN, Q9NR28
Defects in DIABLO are the cause of deafness autosomal dominant type 64 (DFNA64) [MIM:614152]. DFNA64 is a formof non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of theinner ear, the nerve pathways to the brain, or the area of the brain that receives sound information
20/47  diseases for DIABLO (see all 47): About MalaCardsclear cell renal cell carcinoma hearing loss mycosis fungoides burkitt's lymphoma
esophageal squamous cell carcinoma renal cell carcinoma squamous cell carcinoma dilated cardiomyopathy
acute myeloid leukemia myeloid leukemia malignant glioma acute leukemia
carcinoma hodgkin's lymphoma multiple myeloma hepatocellular carcinoma
ovarian carcinoma cervical cancer colon cancer myeloma
1 disease from the University of Copenhagen DISEASES database for DIABLO:Cancer 10/29 Novoseek 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) |
Human Genome Epidemiology (HuGE) Navigator: DIABLO (4 documents)
Export disorders for DIABLO gene to outside databases
|
Publications
for DIABLO gene (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 9 sources (see all 412):
(articles sorted by number of sources associating them with DIABLO) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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)
- 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)
- 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)
- 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)
- Structural basis for binding of Smac/DIABLO to the XIAP BIR3 domain. (PubMed id 11140637)1, 2, 9 Liu Z.... Fesik S.W. (2000)
- SMAC/Diablo mediates the proapoptotic function of PUMA by regulating PUMA-induced mitochondrial events. (PubMed id 17237824)1, 3 Yu J....Zhang L. (2007)
- Livin promotes Smac/DIABLO degradation by ubiquitin-proteasome pathway. (PubMed id 16729033)1, 2 Ma L....Wu M. (2006)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Expression of Smac/DIABLO in ovarian carcinoma cells induces apoptosis via a caspase-9-mediated pathway. (PubMed id 12749848)1, 3 McNeish I.A....Lemoine N.R. (2003)
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External Searches for DIABLO gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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|
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Genome Databases showing DIABLO gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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|
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Other Databases showing DIABLO gene
(According to HUGE)
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| -- |
Specialized Databases showing DIABLO gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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|
| Name | Description |
| PharmGKB entry for DIABLO | Pharmacogenomics, SNPs, Pathways |
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| | |
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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
|
Products
for DIABLO gene(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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
Advanced Cell Diagnostics
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|
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 | |
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| | |  | OriGene Antibodies for DIABLO | | OriGene shRNA RFP for DIABLO | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DIABLO | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DIABLO | | | OriGene Protein Over-expression Lysate for DIABLO | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for DIABLO | | OriGene 3'-UTR Clone for DIABLO | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DIABLO | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DIABLO | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for DIABLO | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for DIABLO | | OriGene Custom Protein Services for DIABLO | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DIABLO | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DIABLO | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DIABLO | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DIABLO | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DIABLO | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DIABLO |
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 |  |  |  | |
| | Antibodies & Assays for DIABLO |
| | | | Search Tocris compounds for DIABLO |
| |  |  |  |  | | | | | | Recombinant Protein for DIABLO |
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 | | | DIABLO Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIABLO |
|  |  |  | | | | ThermoFisher Antibody for DIABLO |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DIABLO |
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