Diablo diablo, IAP-binding mitochondrial protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Diabloprovided by MGI
Official Full Name: diablo, IAP-binding mitochondrial proteinprovided by MGI
Primary source: MGI:MGI:1913843
See related: Ensembl:ENSMUSG00000029433 AllianceGenome:MGI:1913843
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Smac; 0610041G12Rik; 1700006L01Rik
Summary: Involved in positive regulation of apoptotic process. Acts upstream of or within activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c; intrinsic apoptotic signaling pathway in response to oxidative stress; and neuron apoptotic process. Located in cytoplasmic side of plasma membrane and mitochondrion. Part of CD40 receptor complex. Is expressed in several structures, including cerebral cortex subventricular zone; cochlea; early conceptus; ganglia; and pancreas epithelium. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 64. Orthologous to human DIABLO (diablo IAP-binding mitochondrial protein). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis adult (RPKM 115.4), ovary adult (RPKM 33.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 F; 5 63.02 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (123649393..123664825, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (123511330..123524164, complement)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Conjugation of the Fn14 Ligand to a SMAC Mimetic Selectively Suppresses Experimental Squamous Cell Carcinoma in Mice.
Title: Conjugation of the Fn14 Ligand to a SMAC Mimetic Selectively Suppresses Experimental Squamous Cell Carcinoma in Mice.
We report that an Smac-mimetic selectively induces TNF-alpha-dependent cystic renal epithelial cell death, leading to the removal of cystic epithelial cells from renal tissues and delaying cyst formation.
Title: Smac-mimetic-induced epithelial cell death reduces the growth of renal cysts.
Results demonstrate an essential and apoptosis-independent function of SMAC in tumor suppression and provide new insights into the biology and targeting of colon cancer.
Title: An apoptosis-independent role of SMAC in tumor suppression.
Identification of a novel anti-apoptotic E3 ubiquitin ligase that ubiquitinates antagonists of inhibitor of apoptosis proteins SMAC, HtrA2, and ARTS.
Title: Identification of a novel anti-apoptotic E3 ubiquitin ligase that ubiquitinates antagonists of inhibitor of apoptosis proteins SMAC, HtrA2, and ARTS.
Loss of Smac/DIABLO alters both caspase-dependent and caspase-independent intrinsic programmed cell death.
Title: Caspase-3 deficiency reveals a physiologic role for Smac/DIABLO in regulating programmed cell death.
Membrane-associated XIAP induces mitochondrial outer membrane permeabilization leading to cytochrome c and Smac release, which is dependent on Bax and Bak.
Title: Role for X-linked Inhibitor of apoptosis protein upstream of mitochondrial permeabilization.
Smac/DIABLO and Hsp-70 proteins were upregulated 2-fold and 1.5-3-fold, respectively, after birth.
Title: Differential regulation of Smac/DIABLO and Hsp-70 during brain maturation.
In response to autocrine TNFalpha signaling, the Smac mimetic promotes formation of a RIPK1-dependent caspase-8-activating complex, leading to apoptosis
Title: Autocrine TNFalpha signaling renders human cancer cells susceptible to Smac-mimetic-induced apoptosis.
Bax and Bak differentially regulate the release of cytochrome c and Smac/DIABLO from mitochondria, and Smac/DIABLO can be used to sensitize cells that are deficient in Bax and Bak genes, or resistant to TRAIL.
Title: Involvement of proapoptotic molecules Bax and Bak in tumor necrosis factor-related apoptosis-inducing ligand (TRAIL)-induced mitochondrial disruption and apoptosis: differential regulation of cytochrome c and Smac/DIABLO release.
Regulation of Smac/Diablo mRNA and protein expression is a mechanism by which lethal stimuli amplify their lethal potential in renal cells.
Title: Expression of Smac/Diablo in tubular epithelial cells and during acute renal failure.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Diablo (e-PCR), detects polymorphism
- UniSTS:507426

NoName (e-PCR)
- UniSTS:487717

NoName (e-PCR)
- UniSTS:235312

NoName (e-PCR)
- UniSTS:224428

AU040403 (e-PCR)
- UniSTS:159444

NoName (e-PCR)
- UniSTS:493301

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within activation of cysteine-type endopeptidase activity involved in apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process	TAS Traceable Author Statement more info	PubMed
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c	IDA Inferred from Direct Assay more info	PubMed
involved_in intrinsic apoptotic signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in intrinsic apoptotic signaling pathway in response to oxidative stress	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to oxidative stress	IDA Inferred from Direct Assay more info	PubMed
involved_in neuron apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within neuron apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of apoptotic process	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of CD40 receptor complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial intermembrane space	ISO Inferred from Sequence Orthology more info	PubMed
located_in mitochondrial intermembrane space	TAS Traceable Author Statement more info	PubMed
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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Preferred Names: diablo IAP-binding mitochondrial protein

Names: diablo homolog, mitochondrial; direct IAP binding protein with low PI; direct IAP-binding protein with low pI; second mitochondria-derived activator of caspase

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.