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DIABLO
Sign in to saveAlso known as DFNA64, SMAC, Diablo homolog, diablo IAP-binding mitochondrial protein
protein-coding gene in the species Homo sapiens
Gene data
DIABLO- Name
- diablo IAP-binding mitochondrial protein
- Type
- protein-coding
- Position
- 122,207,394–122,226,083 (−)
- Aliases
- DFNA64, SMAC
- Ensembl
- ENSG00000184047
- RefSeq RNA
- NM_001278302.1, NM_001278303.1, NM_001278304.2, NM_001278342.1, NM_001371333.1
- RefSeq protein
- NP_001265231.1, NP_001265232.1, NP_001265233.1, NP_001265271.1, NP_001358262.1
This gene encodes an inhibitor of apoptosis protein (IAP)-binding protein. The encoded mitochondrial protein enters the cytosol when cells undergo apoptosis, and allows activation of caspases by binding to inhibitor of apoptosis proteins. Overexpression of the encoded protein sensitizes tumor cells to apoptosis. A mutation in this gene is associated with young-adult onset of nonsyndromic deafness-64. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
diablo IAP-binding mitochondrial protein
- Symbol
- DIABLO
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 12:122,207,394-122,226,083
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
- Image
- Protein DIABLO PDB 1few.png
Show 7 more facts
- HomoloGene ID
- 10532
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/56616
- cytogenetic location
- 12q24.31
- chromosome
- human chromosome 12
- genomic start
- 122207663
- genomic end
- 122712081
Sources (4)
via Wikidata · CC0