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Gene: DIABLO (diablo IAP-binding mitochondrial protein) Homo sapiens
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Symbol: DIABLO
Name: diablo IAP-binding mitochondrial protein
Description: Predicted to be involved in 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. Localizes to the mitochondrion. Implicated in autosomal dominant nonsyndromic deafness 64. Biomarker of lung non-small cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 0610041G12Rik; DFNA64; diablo homolog, mitochondrial; diablo, mitochondrial; DIABLO-S; direct IAP-binding protein with low pI; FLJ10537; FLJ25049; mitochondrial Smac protein; second mitochondria-derived activator of caspase; SMAC; SMAC3
Orthologs:
Mus musculus (house mouse) : Diablo (diablo, IAP-binding mitochondrial protein)  MGI  Alliance
Rattus norvegicus (Norway rat) : Diablo (diablo, IAP-binding mitochondrial protein)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Diablo (diablo IAP-binding mitochondrial protein)
Pan paniscus (bonobo/pygmy chimpanzee) : DIABLO (diablo IAP-binding mitochondrial protein)
Canis lupus familiaris (dog) : DIABLO (diablo IAP-binding mitochondrial protein)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Diablo (diablo IAP-binding mitochondrial protein)
Sus scrofa (pig) : DIABLO (diablo IAP-binding mitochondrial protein)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812122,207,662 - 122,227,456 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3712122,692,209 - 122,712,081 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3612121,258,162 - 121,276,552 (-)NCBINCBI36hg18NCBI36
Celera12122,281,555 - 122,301,434 (-)NCBI
Cytogenetic Map12q24.31NCBI
HuRef12119,653,145 - 119,672,846 (-)NCBIHuRef
CHM1_112122,660,505 - 122,680,373 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
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References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on DIABLO
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1322043
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2019-10-16
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.