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Diablo
Gene Detail
 Symbol
Name
ID
Diablo
diablo homolog (Drosophila)
MGI:1913843
Synonyms 0610041G12Rik, 1700006L01Rik, Smac
Feature Type protein coding gene
Genetic Map
Chromosome 5
63.02 cM, cytoband F
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr5:123509765-123524176 bp, - strand
From VEGA annotation of GRCm38

  14412 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:10532  Vertebrate Homology Class
1 human; 1 mouse; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken

Gene Tree: Diablo

Human
homologs
Human Homolog DIABLO, diablo, IAP-binding mitochondrial protein
NCBI Gene ID 56616
neXtProt AC  NX_Q9NR28
Human Synonyms  DFNA64, SMAC
Human Chr (Location)  12q24.31; chr12:122207662-122227534 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human DIABLO
Alleles
and
phenotypes
All alleles(6) : Gene trapped(2) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes are viable and fertile with no gross morphological or histological abnormalities. Normal induction of apoptosis in UV-irradiated or Fas-antibody treated cells was noted, and these mice also exhibit normal T and B cell proliferative responses.
 
Alleles Annotated to Human Diseases(1)   
Gene Ontology
(GO)
classifications
All GO classifications: (19 annotations)
Process activation of cysteine-type endopeptidase activity involved in apoptotic process, activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c, ...
Component CD40 receptor complex, cytoplasm, ...
External Resources: FuncBase
Expression
Literature Summary: (7 records)
Data Summary: Results (54)    Tissues (12)    Images (21)
Theiler Stages: 2, 22, 23, 28
Assay TypeResults
Immunohistochemistry 2
RNA in situ 50
RT-PCR 2
cDNA source data(100)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(101) cDNA(100) Primer pair(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000025948 (Evidence)
Ensembl Gene ModelENSMUSG00000029433 (Evidence)
Entrez Gene66593 (Evidence)
UniGene46716
DFCITC1575539, TC1588139, TC1633234, TC1714707, TC1779859
NIA Mouse Gene IndexU158330
Consensus CDS ProjectCCDS39270.1
International Mouse Knockout Project StatusDiablo
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000025948 VEGA Gene Model | MGI Sequence Detail 14412 C57BL/6J ±  kb
transcript OTTMUST00000063989 VEGA | MGI Sequence Detail 3386 Not Applicable 
polypeptide OTTMUSP00000031734 VEGA | MGI Sequence Detail 237 Not Applicable 

For the selected sequences
All sequences(61) RefSeq(4) UniProt(6)
Polymorphisms SNPs within 2kb(88 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR009062 Smac/DIABLO-like
InterPro IPR015142 Smac/DIABLO protein
Protein Ontology PR:000003130 diablo homolog, mitochondrial
References (Earliest) J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
(Latest) J:198020 Qiu W, et al., An apoptosis-independent role of SMAC in tumor suppression. Oncogene. 2013 May 9;32(19):2380-9
All references(63)
Other
accession IDs
MGI:1923950, MGI:2141076

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory