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

Gene ID: 66593, updated on 5-Mar-2024

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 cochlea; early conceptus; ganglia; pancreas epithelium; and trigeminal nerve. 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, Apr 2022]
Expression
Ubiquitous expression in testis adult (RPKM 115.4), ovary adult (RPKM 33.2) and 28 other tissues See more
Orthologs
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Genomic context

See Diablo in Genome Data Viewer
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_000071.7Genomic Context describing neighboring genes Neighboring gene interleukin 31 Neighboring gene leucine rich repeat containing 43 Neighboring gene STARR-positive B cell enhancer ABC_E2175 Neighboring gene UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 Neighboring gene microRNA 7647 Neighboring gene STARR-positive B cell enhancer mm9_chr5:123993667-123993967 Neighboring gene VPS33A CORVET/HOPS core subunit Neighboring gene STARR-positive B cell enhancer ABC_E2176 Neighboring gene CAP-GLY domain containing linker protein 1 Neighboring gene predicted gene, 24840

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (1)  1 citation
  • Endonuclease-mediated (2) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 
acts_upstream_of_or_within apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
 
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 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 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

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.

mRNA and Protein(s)

  1. NM_023232.3NP_075721.3  diablo IAP-binding mitochondrial protein precursor

    See identical proteins and their annotated locations for NP_075721.3

    Status: VALIDATED

    Source sequence(s)
    AK012760, AK133194, BY080746
    Consensus CDS
    CCDS39270.1
    UniProtKB/Swiss-Prot
    Q542V8, Q9CZD1, Q9DCD3, Q9JIQ3
    UniProtKB/TrEMBL
    Q7TPS3
    Related
    ENSMUSP00000107214.4, ENSMUST00000111587.10
    Conserved Domains (1) summary
    pfam09057
    Location:19237
    Smac_DIABLO; Second Mitochondria-derived Activator of Caspases

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    123649393..123664825 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036165411.1XP_036021304.1  diablo IAP-binding mitochondrial protein isoform X1

    UniProtKB/TrEMBL
    Q7TPS3