BIRC7 (Baculoviral IAP Repeat Containing 7) - Gene Overview
BIRC7, also known as Livin or ML-IAP, is a member of the inhibitor of apoptosis protein (IAP) family, implicated in cancer and apoptosis regulation.
Gene Information Card
| Symbol | BIRC7 |
|---|---|
| Full Name | Baculoviral IAP repeat containing 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 20q13.33 |
| NCBI Gene ID | 79444 ncbi.nlm.nih.gov/gene/79444 |
| Ensembl ID | ENSG00000100906 |
| UniProt ID | Q96CA5 |
| OMIM ID | 605737 |
| HGNC ID | 13549 |
| Aliases | Livin, ML-IAP, KIAP, RNF50 |
Description
BIRC7 (Baculoviral IAP repeat containing 7) encodes a protein belonging to the inhibitor of apoptosis protein (IAP) family. It is a potent anti-apoptotic factor that inhibits caspases, particularly caspase-3, -7, and -9, thereby promoting cell survival. BIRC7 is expressed in various tissues and is overexpressed in many cancers, contributing to tumor progression and resistance to therapy. It also plays a role in immune regulation and cell cycle control.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression of BIRC7 inhibits apoptosis, promoting tumor cell survival and resistance to chemotherapy. | High expression observed in melanoma, lung, breast, and colon cancers (COSMIC, literature). |
| Autoimmune diseases | Dysregulation of BIRC7 may affect immune cell apoptosis, contributing to autoimmune pathology. | Expression changes noted in inflammatory conditions (UniProt, literature). |
| Viral infections | Some viruses may modulate BIRC7 to evade host apoptosis, aiding viral persistence. | Indirect evidence from studies on viral oncogenesis (NCBI Gene). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | High | High expression |
| Testis | Medium | Moderate expression |
| Fetal tissues | Medium | Expression in fetal liver and kidney |
| Adult tissues (most) | Low | Low or undetectable in normal adult tissues except placenta and testis |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa (cervical cancer) | High | Overexpressed in cancer cell lines |
| MCF7 (breast cancer) | Medium | Moderate expression |
| A549 (lung cancer) | High | High expression |
| HCT116 (colon cancer) | Medium | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.430G>A (p.Ala144Thr) | Missense | Rare | Potential impact on protein stability (ClinVar) |
| c.497C>T (p.Pro166Leu) | Missense | Rare | Unknown functional effect (ClinVar) |
| Copy number gain | Amplification | Common in tumors | Increased expression leading to apoptosis inhibition (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations are rare and may impair anti-apoptotic activity, potentially increasing apoptosis susceptibility.
Gain of Function (GOF)
Gain-of-function mutations or overexpression enhance anti-apoptotic function, promoting tumor survival.
Dominant Negative (DN)
Dominant-negative effects have not been well characterized for BIRC7.
View complete mutation data：
Gene Ontology (GO)
| • apoptotic process | • cysteine-type endopeptidase inhibitor activity |
| • ubiquitin-protein transferase activity | • zinc ion binding |
| • cytoplasm | • nucleus |
Pathways
• Apoptosis regulation
• NF-kappaB signaling
• Ubiquitin-proteasome pathway
Protein Summary
The BIRC7 protein (Livin) is a 298-amino acid protein containing a single baculoviral IAP repeat (BIR) domain and a RING finger domain. It inhibits apoptosis by binding to caspases and promoting their ubiquitination and degradation. It also participates in NF-kappaB activation and cell cycle regulation. BIRC7 is predominantly expressed in embryonic tissues and certain cancers, making it a potential therapeutic target.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BIRC7 Knockout HEK293 Cell Line | EDJ-KQ12536 | Human | 79444 | Details Get a Quote |
| BIRC7 Knockout A-549 Cell Line | EDJ-KQ41529 | Human | 79444 | Details Get a Quote |
| BIRC7 Knockout HeLa Cell Line | EDJ-KQ57175 | Human | 79444 | Details Get a Quote |
| BIRC7 Knockout HCT 116 Cell Line | EDJ-KQ74108 | Human | 79444 | Details Get a Quote |
