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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

DIABLO Gene

protein-coding GIFtS: 63
GCID: GC12M122692

diablo, IAP-binding mitochondrial protein

Explore 47 diseases affiliated with
DIABLO via

MalaCards

our new
Human Malady Compendium

(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 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:

This gene encodes an inhibitor of apoptosis protein (IAP)-binding protein. The encoded mitochondrial protein enters the

cytosol when cells undergo apoptosis, and it moderates the caspase inhibition of IAPs. Multiple polyadenylation sites

have been found for this gene. Four alternatively spliced transcript variants have been described for this gene, with

two of them encoding different isoforms and the other two probably not encoding a protein. (provided by RefSeq, Dec

2008)

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)

(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

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 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 Q9HAV6

Alternative 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 PhosphoSitePlus²

View 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 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: DIABLO OriGene Protein Over-expression Lysate (see all 4): 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
	ProSpec Recombinant Protein for DIABLO
	Uscn Proteins for DIABLO

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	--	--
GO:0005739	mitochondrion	IDA	--
GO:0005758	mitochondrial intermembrane space	TAS	--
GO:0005829	cytosol	TAS	--
GO:0009898	internal 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
	OriGene Antibodies (see all 3): DIABLO OriGene Custom Antibody Services for DIABLO
	GenScript Custom Superior Antibodies Services for DIABLO
	Novus Biologicals DIABLO Antibodies
	Abcam antibodies for DIABLO
	Uscn Antibodies for DIABLO
	ThermoFisher Antibody for DIABLO

Assay Products for DIABLO:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	R&D Systems ELISAs for DIABLO (SMAC/Diablo) (see all)
	GenScript Custom Assay Services for DIABLO
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for DIABLO

(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:

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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 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 ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	--

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:
Mouse knock-out Diablo^tm1Mak for DIABLO

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for DIABLO

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

		OriGene 3'-UTR Clone (see all 2): DIABLO Browse MicroRNA Expression Plasmids
		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 plasmid: DIABLO 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DIABLO (see all 7) OriGene shRNA RFP: DIABLO OriGene siRNA: DIABLO
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DIABLO
		Sirion Biotech Custom design and validation of potent shRNA sequences against DIABLO

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for DIABLO
			Sirion Biotech Customized adenovirus for overexpression of DIABLO Sirion Biotech Customized adenovirus for potent knockdown of DIABLO

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)
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DIABLO

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for DIABLO
		Search LifeMap BioReagents cell lines for DIABLO
		Sirion Biotech Customized stable knockdown cell line services for DIABLO Sirion Biotech Customized inducible knockdown cell line services for DIABLO Sirion Biotech Customized stable overexpressing cell line services for DIABLO Sirion Biotech Customized inducible overexpressing cell line services for DIABLO

In Situ Assay
Products:

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, 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

Apoptotic factor-mediated response

	Apoptotic factor-mediated response	1.00			SMAC binds to IAPs	0.71
	SMAC-mediated apoptotic response	0.71			SMAC-mediated dissociation of IAP:caspase complexes	0.71

Apoptosis and survival_Apoptotic TNF-family pathways

	Apoptosis and survival_Apoptotic TNF-family pathways	1.00			Apoptosis Signaling Pathways	0.35
	Apoptosis and survival Apoptotic TNF-family pathways	1.00

Apoptosis and survival_Caspase cascade

	Apoptosis and survival_FAS signaling cascades	0.44			Caspase cascade in apoptosis	0.42
	Apoptosis and survival FAS signaling cascades	0.44

BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members

	Apoptosis and survival_Regulation of Apoptosis by Mitochondrial Proteins	0.24			Intrinsic Pathway for Apoptosis	0.23
	Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins	0.24

Apoptosis and survival_Lymphotoxin-beta receptor signaling

Apoptosis and survival Lymphotoxin-beta receptor signaling

1.00

Apoptosis and survival_Lymphotoxin-beta receptor signaling

1.00

Pathway sources
See GeneCards unified pathways
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 Modulation and Signaling
	Apoptosis
	Caspase cascade in apoptosis
	p75(NTR)-mediated 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 Central^TM 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 (Q9NR28^{1, 2, 3} ENSP00000267169⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 55)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
BIRC3	Q13489¹^,³, ENSP00000263464⁴	EBI-517508,EBI-517709 I2D: score=4 STRING: ENSP00000263464
EEF1A1	P68104²^,³	MINT-8254111 I2D: score=2
HSPD1	P10809², ENSP00000340019⁴	MINT-7965841 MINT-7965791 MINT-8152405 MINT-7965857 MINT-8152389 STRING: ENSP00000340019
XIAP	P98170¹^,²^,³, ENSP00000347858⁴	EBI-517508,EBI-517127 MINT-15031 MINT-8329354 I2D: score=7 STRING: ENSP00000347858
PRKCD	Q05655²	MINT-8328987 MINT-8329313 MINT-8328976 MINT-8329001

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

(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 Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

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

(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, Sirion Biotech, 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: 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:		OriGene 3'-UTR Clone (see all 2): DIABLO Browse OriGene MicroRNA Expression Plasmids
		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 plasmid: DIABLO 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		Sirion Biotech Custom design and validation of potent shRNA sequences against DIABLO

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)
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DIABLO

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		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

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

(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, 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:

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

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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 5/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Diablo^{1 , 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	--	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, 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

SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs4758675^1,2	C,F,H	--	122691738(-)	`CAGCCT/GCCTCA`	4	--	ds500¹		13		NA WA CSA EU	6008
rs148963980^1,2	C	--	122691955(+)	`AACAGC/TCTGAG`	5	--	ds500¹ ut3¹		0	--	--	--	--
rs11061130^1,2	C,H	--	122691961(+)	`CTGAGA/GGTGGA`	5	--	ut3¹ ds500¹		3		NS NA	174
rs143751930^1,2	C	--	122691978(+)	`GTTGAC/TTCTCT`	5	--	ut3¹ ds500¹		0	--	--	--	--
rs114818746^1,2	C	--	122691982(+)	`ATTCTC/TTATCG`	5	--	ut3¹ ds500¹		1		WA	118
rs115377262^1,2		--	122692054(+)	`CACCCT/GGTTAG`	5	--	ut3¹ ds500¹		1		WA	118
rs148145747^1,2		--	122692158(+)	`CATTCC/TGGGCG`	5	--	ds500¹		0	--	--	--	--
rs141979574^1,2		--	122692272(+)	`CTCCTC/TTGGAT`	5	--	ds500¹ nc-transcript-variantut3¹		0	--	--	--	--
rs146155613^1,2		--	122692289(+)	`GAGAAA/GCGGAA`	5	--	ds500¹ nc-transcript-variantut3¹		0	--	--	--	--
rs193049718^1,2		--	122692291(+)	`GAAACA/GGAAAG`	5	--	ds500¹ nc-transcript-variantut3¹		0	--	--	--	--

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

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(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 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

20/47 diseases for DIABLO (see all 47): About MalaCards

clear 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

(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 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)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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

Name	Description
PharmGKB entry for DIABLO	Pharmacogenomics, SNPs, Pathways

Intellectual Property for DIABLO gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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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

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diablo, IAP-binding mitochondrial protein

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DIABLO Gene

diablo, IAP-binding mitochondrial protein

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