DIABLO - diablo IAP-binding mitochondrial protein Gene
Also Known as SMAC; DFNA64
Species: Homo sapiens
About DIABLO
This gene has 17 transcripts (splice variants), 283 orthologues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 16.5), adrenal (RPKM 10.0) and 25 other tissues.
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]
DIABLO Products (7)
| mRNA | Protein | Name |
|---|---|---|
| NM_001278302.1 | NP_001265231.1 | diablo IAP-binding mitochondrial protein isoform 4 |
| NM_001278303.1 | NP_001265232.1 | diablo IAP-binding mitochondrial protein isoform 5 |
| NM_001278304.2 | NP_001265233.1 | diablo IAP-binding mitochondrial protein isoform 2 |
| NM_001278342.1 | NP_001265271.1 | diablo IAP-binding mitochondrial protein isoform 3 |
| NM_001371333.1 | NP_001358262.1 | diablo IAP-binding mitochondrial protein isoform 1 precursor |
| NM_019887.6 | NP_063940.1 | diablo IAP-binding mitochondrial protein isoform 1 precursor |
| NM_138930.3 | NP_620308.1 | diablo IAP-binding mitochondrial protein isoform 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
11140638 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytosol |
IDA
IDA: Inferred from direct assay
|
28288130 | GOA |
| located in mitochondrion |
IDA
IDA: Inferred from direct assay
|
28288130 | GOA |
DIABLO Protein Structure
Smac_DIABLO: Second Mitochondria-derived Activator of Caspases (6 - 239)
- 0
- 100
- 200
- 239 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
diablo IAP-binding mitochondrial protein |
|
DIABLO Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
DIABLO | Q9NR28 | MICOS13 | Homo sapiens | Q5XKP0 | 32296183 | |
|
Intra
|
DIABLO | Q9NR28 | MICOS13 | Homo sapiens | Q5XKP0 | 32296183 | |
|
Intra
|
DIABLO | Q9NR28 | AGTRAP | Homo sapiens | Q6RW13-2 | 32296183 | |
|
Intra
|
DIABLO | Q9NR28 | AGTRAP | Homo sapiens | Q6RW13-2 | 26871637 | |
|
Intra
|
DIABLO | Q9NR28 | AGTRAP | Homo sapiens | Q6RW13-2 | 26871637 | |
|
Intra
|
DIABLO | Q9NR28 | AGTRAP | Homo sapiens | Q6RW13-2 | 32296183 | |
|
Intra
|
DIABLO | Q9NR28 | AGTRAP | Homo sapiens | Q6RW13-2 | 26871637 | |
|
Intra
|
DIABLO | Q9NR28 | DGAT2L6 | Homo sapiens | Q6ZPD8 | 32296183 | |
|
Intra
|
DIABLO | Q9NR28 | DGAT2L6 | Homo sapiens | Q6ZPD8 | 32296183 | |
|
Intra
|
DIABLO | Q9NR28 | CMTM4 | Homo sapiens | Q8IZR5-2 | 32296183 | |
|
Intra
|
DIABLO | Q9NR28 | CMTM4 | Homo sapiens | Q8IZR5-2 | 32296183 | |
|
Intra
|
DIABLO | Q9NR28 | RHBDD2 | Homo sapiens | Q6NTF9-3 | 32296183 | |
|
Intra
|
DIABLO | Q9NR28 | RHBDD2 | Homo sapiens | Q6NTF9-3 | 32296183 | |
|
Intra
|
DIABLO | Q9NR28 | HSD17B13 | Homo sapiens | Q7Z5P4 | 32296183 | |
|
Intra
|
DIABLO | Q9NR28 | HSD17B13 | Homo sapiens | Q7Z5P4 | 32296183 | |
|
Intra
|
DIABLO | Q9NR28 | APOC4 | Homo sapiens | P55056 | 32296183 | |
|
Intra
|
DIABLO | Q9NR28 | APOC4 | Homo sapiens | P55056 | 32296183 | |
|
Intra
|
DIABLO | Q9NR28 | STMN4 | Homo sapiens | Q9H169-2 | 32296183 | |
|
Intra
|
DIABLO | Q9NR28 | STMN4 | Homo sapiens | Q9H169-2 | 32296183 | |
|
Intra
|
DIABLO | Q9NR28 | SFT2D1 | Homo sapiens | Q8WV19 | 32296183 | |
|
Intra
|
DIABLO | Q9NR28 | SFT2D1 | Homo sapiens | Q8WV19 | 32296183 | |
|
Intra
|
DIABLO | Q9NR28 | FKBP7 | Homo sapiens | Q9Y680 | 32296183 | |
|
Intra
|
DIABLO | Q9NR28 | FKBP7 | Homo sapiens | Q9Y680 | 32296183 | |
|
Intra
|
DIABLO | Q9NR28 | FKBP7 | Homo sapiens | Q9Y680 | 32296183 | |
|
Intra
|
DIABLO | Q9NR28 | SLC17A9 | Homo sapiens | Q9BYT1 | 32296183 | |
|
Intra
|
DIABLO | Q9NR28 | SLC17A9 | Homo sapiens | Q9BYT1 | 32296183 | |
|
Intra
|
DIABLO | Q9NR28 | FADS6 | Homo sapiens | Q8N9I5 | 32296183 | |
|
Intra
|
DIABLO | Q9NR28 | FADS6 | Homo sapiens | Q8N9I5 | 32296183 | |
|
Intra
|
DIABLO | Q9NR28 | BIRC2 | Homo sapiens | Q13490 | 16282325 | |
|
Intra
|
DIABLO | Q9NR28 | BIRC2 | Homo sapiens | Q13490 | 19153467 | |
|
Intra
|
DIABLO | Q9NR28 | BIRC2 | Homo sapiens | Q13490 | 33961781 | |
|
Intra
|
DIABLO | Q9NR28 | XIAP | Homo sapiens | P98170 | 11801603 | |
|
Intra
|
DIABLO | Q9NR28 | XIAP | Homo sapiens | P98170 | 33961781 | |
|
Intra
|
DIABLO | Q9NR28 | XIAP | Homo sapiens | P98170 | 21185211 | |
|
Intra
|
DIABLO | Q9NR28 | XIAP | Homo sapiens | P98170 | 23251006 | |
|
Intra
|
DIABLO | Q9NR28 | XIAP | Homo sapiens | P98170 | 16282325 | |
|
Intra
|
DIABLO | Q9NR28 | XIAP | Homo sapiens | P98170 | 22465666 | |
|
Intra
|
DIABLO | Q9NR28 | BIRC7 | Homo sapiens | Q96CA5 | 11801603 | |
|
Intra
|
DIABLO | Q9NR28 | BIRC7 | Homo sapiens | Q96CA5 | 11801603 | |
|
Intra
|
DIABLO | Q9NR28 | BIRC5 | Homo sapiens | O15392 | 23251006 | |
|
Intra
|
DIABLO | Q9NR28 | TIMMDC1 | Homo sapiens | Q9NPL8 | 32296183 | |
|
Intra
|
DIABLO | Q9NR28 | TIMMDC1 | Homo sapiens | Q9NPL8 | 32296183 | |
|
Intra
|
DIABLO | Q9NR28 | PRKCD | Homo sapiens | Q05655 | 22465666 | |
|
Intra
|
DIABLO | Q9NR28 | ARL6IP1 | Homo sapiens | Q15041 | 26871637 | |
|
Intra
|
DIABLO | Q9NR28 | ARL6IP1 | Homo sapiens | Q15041 | 26871637 | |
|
Intra
|
DIABLO | Q9NR28 | ARL6IP1 | Homo sapiens | Q15041 | 26871637 | |
|
Intra
|
DIABLO | Q9NR28 | ARL6IP1 | Homo sapiens | Q15041 | 32296183 | |
|
Intra
|
DIABLO | Q9NR28 | ARL6IP1 | Homo sapiens | Q15041 | 32296183 | |
|
Intra
|
DIABLO | Q9NR28 | MPC2 | Homo sapiens | O95563 | 32296183 | |
|
Intra
|
DIABLO | Q9NR28 | MPC2 | Homo sapiens | O95563 | 32296183 | |
|
Intra
|
DIABLO | Q9NR28 | MTFR1 | Homo sapiens | Q15390 | 32296183 | |
|
Intra
|
DIABLO | Q9NR28 | MTFR1 | Homo sapiens | Q15390 | 33961781 | |
|
Intra
|
DIABLO | Q9NR28 | MTFR1 | Homo sapiens | Q15390 | 32296183 | |
|
Intra
|
DIABLO | Q9NR28 | DHRS1 | Homo sapiens | Q96LJ7 | 32296183 | |
|
Intra
|
DIABLO | Q9NR28 | DHRS1 | Homo sapiens | Q96LJ7 | 32296183 | |
|
Intra
|
DIABLO | Q9NR28 | DERL2 | Homo sapiens | Q9GZP9 | 32296183 | |
|
Intra
|
DIABLO | Q9NR28 | DERL2 | Homo sapiens | Q9GZP9 | 32296183 | |
|
Intra
|
DIABLO | Q9NR28 | SYP | Homo sapiens | P08247 | 32296183 | |
|
Intra
|
DIABLO | Q9NR28 | SYP | Homo sapiens | P08247 | 32296183 |
Recombinant DIABLO Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P73416 | SMAC/Diablo Protein, Human (His) | Q9NR28-1 (A56-D239) | ≥ 90%, as determined by reducing SDS-PAGE. |
DIABLO Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P82248 | SMAC Antibody (YA1993) | WB, IHC-F, IHC-P, ICC/IF, IP | Human, Mouse, Rat |
| HY-P82248A | SMAC Antibody (YA1993)(PBS only) | WB, IHC-F, IHC-P, ICC/IF, IP | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Deafness, Autosomal Dominant 64 |
|
|
| Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna |
|
|
| Acute Leukemia |
|
|
| Lung Cancer |
|
|
| Rhabdomyosarcoma 2 |
|
|
| Colorectal Cancer |
|
|
| Glioblastoma |
|
|
| Ovarian Cancer |
|
|
| Amyotrophic Lateral Sclerosis 3 |
|
|
| Gastric Cancer |
|
|
| Prostate Cancer |
|
|
| Hepatocellular Carcinoma |
|
|
| Sensorineural Hearing Loss |
|
|
| Neuroblastoma |
|
|
| Autoimmune Lymphoproliferative Syndrome |
|
|
| Myeloma, Multiple |
|
|
| Alzheimer Disease, Familial, 1 |
|
|
| Leukemia, Acute Myeloid |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | DIABLO | VGNC | VGNC:108338 |
| Bos taurus | DIABLO | VGNC | VGNC:28061 |
| Rattus norvegicus | DIABLO | RGD | RGD:1310885 |
| Felis catus | DIABLO | VGNC | VGNC:107701 |
| Canis familiaris | DIABLO | VGNC | VGNC:39954 |
| Mus musculus | DIABLO | MGD | MGI:1913843 |
| Others | DIABLO | NCBI |