MitoProteome Database

MT001192

Record overview

MITO ID	MT001192
Gene ID	56616
Species	Homo sapiens (Human)
Gene Name	diablo, IAP-binding mitochondrial protein
Gene Symbol	DIABLO
Synonyms	SMAC; DFNA64;
Alternate names	diablo homolog, mitochondrial; direct IAP-binding protein with low pI; second mitochondria-derived activator of caspase;
Chromosome	12
Map Location	12q24.31
Summary	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]
Orthologs	View orthologs and multiple alignments for DIABLO

Proteins

diablo homolog, mitochondrial isoform 1 precursor

Refseq ID:	NP_063940
Protein GI:	9845297
UniProt ID:	Q9NR28
mRNA ID:	NM_019887
Length:	239
RefSeq Status:

`MAALKSWLSRSVTSFFRYRQCLCVPVVANFKKRCFSELIRPWHKTVTIGFGVTLCAVPIAQKSEPHSLSSEALMRRAVSLVTDSTSTFLSQTTYALIEAI TEYTKAVYTLTSLYRQYTSLLGKMNSEEEDEVWQVIIGARAEMTSKHQEYLKLETTWMTAVGLSEMAAEAAYQTGADQASITARNHIQLVKLQVEEVHQL SRKAETKLAEAQIEELRQKTQEEGEERAESEQEAYLRED`

N
transit_peptide: 1..55
experiment: experimental evidence, no additional details recorded
note: Mitochondrion; propagated from UniProtKB/Swiss-Prot (Q9NR28.1)
calculated_mol_wt: 6384
peptide sequence: 
MAALKSWLSRSVTSFFRYRQCLCVPVVANFKKRCFSELIRPWHKTVTIGFGVTLC

mat_peptide: 56..239
product: Diablo homolog, mitochondrial
experiment: experimental evidence, no additional details recorded
note: propagated from UniProtKB/Swiss-Prot (Q9NR28.1)
calculated_mol_wt: 20765
peptide sequence: 
AVPIAQKSEPHSLSSEALMRRAVSLVTDSTSTFLSQTTYALIEAITEYTKAVYTLTSLYRQYTSLLGKMNSEEEDEVWQVIIGARAEMTSKHQEYLKLET
TWMTAVGLSEMAAEAAYQTGADQASITARNHIQLVKLQVEEVHQLSRKAETKLAEAQIEELRQKTQEEGEERAESEQEAYLRED

diablo homolog, mitochondrial isoform 2

Refseq ID:	NP_620308
Protein GI:	21070978
UniProt ID:	Q502X2
mRNA ID:	NM_138930
Length:	186
RefSeq Status:

diablo homolog, mitochondrial isoform 2
`MKSDFYFQKSEPHSLSSEALMRRAVSLVTDSTSTFLSQTTYALIEAITEYTKAVYTLTSLYRQYTSLLGKMNSEEEDEVWQVIIGARAEMTSKHQEYLKL ETTWMTAVGLSEMAAEAAYQTGADQASITARNHIQLVKLQVEEVHQLSRKAETKLAEAQIEELRQKTQEEGEERAESEQEAYLRED`

Refseq ID:	NP_001265233
Protein GI:	508083035
UniProt ID:	Q502X2
mRNA ID:	NM_001278304
Length:	186
RefSeq Status:

diablo homolog, mitochondrial isoform 3
Protein sequence is identical to GI:21070978 (mRNA isoform)

Refseq ID:	NP_001265271
Protein GI:	507588244
UniProt ID:	Q9NR28
mRNA ID:	NM_001278342
Length:	195
RefSeq Status:

`MAALKSWLSRSVTSFFRYRQCLCVPVVANFKKRCFSELIRPWHKTVTIGFGVTLCAVPIAQAVYTLTSLYRQYTSLLGKMNSEEEDEVWQVIIGARAEMT SKHQEYLKLETTWMTAVGLSEMAAEAAYQTGADQASITARNHIQLVKLQVEEVHQLSRKAETKLAEAQIEELRQKTQEEGEERAESEQEAYLRED`

N
transit_peptide: 1..55
experiment: experimental evidence, no additional details recorded
note: Mitochondrion; propagated from UniProtKB/Swiss-Prot (Q9NR28.1)
calculated_mol_wt: 6384
peptide sequence: 
MAALKSWLSRSVTSFFRYRQCLCVPVVANFKKRCFSELIRPWHKTVTIGFGVTLC

mat_peptide: 56..239
product: Diablo homolog, mitochondrial
experiment: experimental evidence, no additional details recorded
note: propagated from UniProtKB/Swiss-Prot (Q9NR28.1)
calculated_mol_wt: 20765
peptide sequence: 
AVPIAQKSEPHSLSSEALMRRAVSLVTDSTSTFLSQTTYALIEAITEYTKAVYTLTSLYRQYTSLLGKMNSEEEDEVWQVIIGARAEMTSKHQEYLKLET
TWMTAVGLSEMAAEAAYQTGADQASITARNHIQLVKLQVEEVHQLSRKAETKLAEAQIEELRQKTQEEGEERAESEQEAYLRED

transit_peptide: 1..55
calculated_mol_wt: 6384
peptide sequence: 
MAALKSWLSRSVTSFFRYRQCLCVPVVANFKKRCFSELIRPWHKTVTIGFGVTLC

mat_peptide: 56..195
product: diablo homolog, mitochondrial isoform 3
calculated_mol_wt: 15919
peptide sequence: 
AVPIAQAVYTLTSLYRQYTSLLGKMNSEEEDEVWQVIIGARAEMTSKHQEYLKLETTWMTAVGLSEMAAEAAYQTGADQASITARNHIQLVKLQVEEVHQ
LSRKAETKLAEAQIEELRQKTQEEGEERAESEQEAYLRED

diablo homolog, mitochondrial isoform 4

Refseq ID:	NP_001265231
Protein GI:	508083041
UniProt ID:	Q502X2
mRNA ID:	NM_001278302
Length:	142
RefSeq Status:

diablo homolog, mitochondrial isoform 5
`MKSDFYFQAVYTLTSLYRQYTSLLGKMNSEEEDEVWQVIIGARAEMTSKHQEYLKLETTWMTAVGLSEMAAEAAYQTGADQASITARNHIQLVKLQVEEV HQLSRKAETKLAEAQIEELRQKTQEEGEERAESEQEAYLRED`

Refseq ID:	NP_001265232
Protein GI:	508083043
UniProt ID:	Q9NR28
mRNA ID:	NM_001278303
Length:	166
RefSeq Status:

`MRRAVSLVTDSTSTFLSQTTYALIEAITEYTKAVYTLTSLYRQYTSLLGKMNSEEEDEVWQVIIGARAEMTSKHQEYLKLETTWMTAVGLSEMAAEAAYQ TGADQASITARNHIQLVKLQVEEVHQLSRKAETKLAEAQIEELRQKTQEEGEERAESEQEAYLRED`