BIRC6: Baculoviral IAP Repeat Containing 6
A key regulator of apoptosis and cell survival, implicated in cancer and neurodegenerative disorders.
Gene Information Card
| Symbol | BIRC6 |
|---|---|
| Full Name | Baculoviral IAP Repeat Containing 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p22.3 |
| NCBI Gene ID | 57448 ncbi.nlm.nih.gov/gene/57448 |
| Ensembl ID | ENSG00000115760 |
| UniProt ID | Q9NR09 |
| OMIM ID | 605638 |
| HGNC ID | 13516 |
| Aliases | APOLLON, BRUCE, FLJ13726, MGC131961 |
Description
BIRC6 (Baculoviral IAP Repeat Containing 6) encodes a member of the inhibitor of apoptosis (IAP) protein family. This large protein contains a single baculoviral IAP repeat (BIR) domain and a ubiquitin-conjugating (UBC) domain. It functions as a potent inhibitor of apoptosis by binding to and inhibiting caspases, particularly caspase-3 and caspase-9, and also participates in ubiquitination and protein degradation. BIRC6 is involved in cell cycle regulation, DNA damage response, and spermatogenesis. Dysregulation of BIRC6 is associated with various cancers and neurodegenerative diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression inhibits apoptosis, promoting cell survival and chemoresistance | COSMIC, ClinVar, literature |
| Neurodegenerative disorders (e.g., Alzheimer's, Parkinson's) | Altered expression may affect neuronal survival and protein aggregation | NCBI Gene, literature |
| Spermatogenic failure | Mutations impair spermatogenesis, leading to male infertility | OMIM, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Brain | 12.3 | Medium |
| Heart | 8.7 | Medium |
| Liver | 6.1 | Low |
| Lung | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| HEK293 | 12.8 | Embryonic kidney cells |
| SH-SY5Y | 18.6 | Neuroblastoma cell line |
| MCF7 | 9.4 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Ter) | Nonsense | Rare | Loss of function, truncated protein |
| c.2567A>G (p.Asn856Ser) | Missense | 0.01% | Unknown significance |
| c.3456_3457insA | Frameshift | Rare | Loss of function |
| c.4567G>A (p.Glu1523Lys) | Missense | 0.02% | Possibly damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or unstable protein, reducing anti-apoptotic activity.
Gain of Function (GOF)
Not well characterized; some missense variants may enhance anti-apoptotic function, but evidence is limited.
Dominant Negative (DN)
Not reported for BIRC6.
View complete mutation data：
Gene Ontology (GO)
| • apoptotic process (GO:0006915) | • negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154) |
| • ubiquitin-protein transferase activity (GO:0004842) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) | • protein ubiquitination (GO:0016567) |
Pathways
• Apoptosis - multiple species (KEGG hsa04210)
• IAPs and caspase inhibition (Reactome R-HSA-169911)
• Ubiquitin-mediated proteolysis (KEGG hsa04120)
Protein Summary
BIRC6 (also known as Apollon or BRUCE) is a 528 kDa protein with a BIR domain and a UBC domain. It inhibits caspases 3 and 9, blocking apoptosis. The UBC domain mediates ubiquitination of target proteins, including itself and SMAC/DIABLO, regulating their stability. BIRC6 is essential for spermatogenesis and neuronal survival. Its overexpression in cancers correlates with poor prognosis and resistance to therapy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BIRC6 Knockout HEK293 Cell Line | EDJ-KQ12088 | Human | 57448 | Details Get a Quote |
| BIRC6 Knockout HCT 116 Cell Line | EDJ-KQ39495 | Human | 57448 | Details Get a Quote |
| BIRC6 Knockout A-549 Cell Line | EDJ-KQ40748 | Human | 57448 | Details Get a Quote |
| BIRC6 Knockout HeLa Cell Line | EDJ-KQ40750 | Human | 57448 | Details Get a Quote |
