BNIP3L
BCL2 Interacting Protein 3 Like; key regulator of mitophagy and apoptosis
Gene Information Card
| Symbol | BNIP3L |
|---|---|
| Full Name | BCL2 Interacting Protein 3 Like |
| Gene Type | protein-coding |
| Chromosomal Location | 8p21.3 |
| NCBI Gene ID | 665 ncbi.nlm.nih.gov/gene/665 |
| Ensembl ID | ENSG00000104765 |
| UniProt ID | O60238 |
| OMIM ID | 605368 |
| HGNC ID | 1085 |
| Aliases | NIX, BNIP3a |
Description
BNIP3L (BCL2 Interacting Protein 3 Like), also known as NIX, is a pro-apoptotic member of the BCL2 family. It contains a BH3 domain and a C-terminal transmembrane domain that targets it to mitochondria. BNIP3L is transcriptionally induced by hypoxia via HIF1A and plays a critical role in mitophagy (selective autophagy of mitochondria), particularly during erythroid maturation. It also functions in programmed cell death and is implicated in cancer, neurodegenerative diseases, and cardiac ischemia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Parkinson disease | Dysregulation of BNIP3L-mediated mitophagy leads to accumulation of damaged mitochondria in dopaminergic neurons | PMID: 28114261 |
| Breast cancer | BNIP3L overexpression correlates with poor prognosis; promotes hypoxia-induced apoptosis and autophagy | PMID: 16959974 |
| Cardiac ischemia/reperfusion injury | BNIP3L upregulation during hypoxia induces mitochondrial dysfunction and cardiomyocyte death | PMID: 17690171 |
| Glioblastoma | BNIP3L expression is elevated and associated with tumor hypoxia and resistance to therapy | PMID: 23334668 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Skeletal muscle | 9.8 | Medium |
| Liver | 6.5 | Low |
| Kidney | 8.1 | Medium |
| Brain | 7.2 | Low |
| Lung | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 10.5 | Moderate expression |
| MCF7 | 8.9 | Moderate expression |
| SH-SY5Y | 12.0 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.458C>T (p.Pro153Leu) | Missense | <0.01% (gnomAD) | Unknown functional effect |
| c.1A>G (p.Met1Val) | Start loss | <0.01% (gnomAD) | Likely loss of function |
| c.337G>A (p.Gly113Arg) | Missense | <0.01% (gnomAD) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Start loss variant (p.Met1Val) likely abolishes protein translation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Mitophagy - Homo sapiens (hsa04137)
• Apoptosis - Homo sapiens (hsa04210)
• Autophagy - Homo sapiens (hsa04140)
• p53 signaling pathway (hsa04115)
Protein Summary
BNIP3L (NIX) is a 219-amino acid protein (UniProt O60238) with a BH3 domain and a C-terminal transmembrane domain. It localizes to the mitochondrial outer membrane where it promotes mitophagy by interacting with LC3/GABARAP family proteins via an LIR motif. BNIP3L also induces apoptosis through BH3-mediated neutralization of anti-apoptotic BCL2 family members. Its expression is strongly induced by hypoxia and it is essential for mitochondrial clearance during erythroid maturation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BNIP3L Knockout HEK293 Cell Line | EDJ-KQ12552 | Human | 665 | Details Get a Quote |
| BNIP3L Knockout HeLa Cell Line | EDJ-KQ18103 | Human | 665 | Details Get a Quote |
| BNIP3L Knockout A-549 Cell Line | EDJ-KQ40266 | Human | 665 | Details Get a Quote |
| BNIP3L Knockout HCT 116 Cell Line | EDJ-KQ41563 | Human | 665 | Details Get a Quote |
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