BCL2L1: BCL2 Like 1 (Apoptosis Regulator)
Key regulator of apoptosis, including isoforms BCL-XL (anti-apoptotic) and BCL-XS (pro-apoptotic).
Gene Information Card
| Symbol | BCL2L1 |
|---|---|
| Full Name | BCL2 like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 20q11.21 |
| NCBI Gene ID | 598 ncbi.nlm.nih.gov/gene/598 |
| Ensembl ID | ENSG00000171552 |
| UniProt ID | Q07817 |
| OMIM ID | 600039 |
| HGNC ID | 992 |
| Aliases | BCL-X, BCL2L, BCLX |
Description
BCL2L1 encodes two major isoforms: BCL-XL (long, anti-apoptotic) and BCL-XS (short, pro-apoptotic). BCL-XL inhibits apoptosis by binding and sequestering pro-apoptotic BH3-only proteins and BAX/BAK, while BCL-XS promotes apoptosis. The gene is widely expressed and plays critical roles in development, immune response, and cancer. Dysregulation of BCL2L1 splicing and expression contributes to chemoresistance and tumor progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lymphoma | BCL-XL overexpression inhibits apoptosis in malignant B cells | PMID: 10477778 |
| Non-small cell lung cancer | BCL-XL upregulation correlates with poor prognosis and resistance to chemotherapy | PMID: 15696243 |
| Breast cancer | BCL-XL promotes survival of metastatic cells | PMID: 20601937 |
| Chronic lymphocytic leukemia | BCL-XL overexpression associated with fludarabine resistance | PMID: 10891411 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Lymph node | 15.3 | Medium |
| Spleen | 18.7 | Medium |
| Thymus | 20.1 | High |
| Testis | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 22.4 | High expression |
| HeLa (cervical) | 14.1 | Medium expression |
| A549 (lung) | 16.8 | Medium expression |
| MCF7 (breast) | 11.2 | Medium 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% | Altered BH3 binding affinity |
| c.512A>G (p.Asn171Ser) | Missense | <0.01% | Reduced anti-apoptotic function |
| c.586G>A (p.Gly196Arg) | Missense | <0.01% | Loss of BAX binding |
Mutation functional classification
Loss of Function (LOF)
Mutations that impair BCL-XL binding to pro-apoptotic proteins (e.g., p.Gly196Arg) reduce anti-apoptotic activity.
Gain of Function (GOF)
Amplification or overexpression of BCL2L1 (not point mutations) confers enhanced survival.
Dominant Negative (DN)
BCL-XS isoform acts as a dominant-negative inhibitor of BCL-XL.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Apoptosis (KEGG hsa04210)
• p53 signaling pathway (KEGG hsa04115)
• PI3K-Akt signaling pathway (KEGG hsa04151)
Protein Summary
BCL2L1 encodes BCL-XL (233 amino acids) and BCL-XS (170 amino acids) via alternative splicing. BCL-XL contains BH1, BH2, BH3, and BH4 domains, localizes to the mitochondrial outer membrane, and inhibits apoptosis by heterodimerizing with BAX and BAK. BCL-XS lacks the BH1 and BH2 domains and promotes apoptosis. The protein is a key target in cancer therapy, with BH3 mimetics (e.g., navitoclax) designed to inhibit BCL-XL.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BCL2L13 Knockout HEK293 Cell Line | EDJ-KQ1431 | Human | 23786 | Details Get a Quote |
| BCL2L10 Knockout HEK293 Cell Line | EDJ-KQ6864 | Human | 10017 | Details Get a Quote |
| BCL2L14 Knockout HEK293 Cell Line | EDJ-KQ12525 | Human | 79370 | Details Get a Quote |
| BCL2L15 Knockout HEK293 Cell Line | EDJ-KQ12526 | Human | 440603 | Details Get a Quote |
| BCL2L15 Knockout HCT 116 Cell Line | EDJ-KQ41513 | Human | 440603 | Details Get a Quote |
| BCL2L13 Knockout A-549 Cell Line | EDJ-KQ22281 | Human | 23786 | Details Get a Quote |
| BCL2L13 Knockout HCT 116 Cell Line | EDJ-KQ22283 | Human | 23786 | Details Get a Quote |
| BCL2L13 Knockout HeLa Cell Line | EDJ-KQ22284 | Human | 23786 | Details Get a Quote |
| BCL2L11 Knockout HEK293 Cell Line | EDJ-KQ50924 | Human | 10018 | Details Get a Quote |
| BCL2L12 Knockout HEK293 Cell Line | EDJ-KQ51786 | Human | 83596 | Details Get a Quote |
| BCL2L10 Knockout HeLa Cell Line | EDJ-KQ55300 | Human | 10017 | Details Get a Quote |
| BCL2L11 Knockout HeLa Cell Line | EDJ-KQ55301 | Human | 10018 | Details Get a Quote |
| BCL2L14 Knockout HeLa Cell Line | EDJ-KQ57171 | Human | 79370 | Details Get a Quote |
| BCL2L12 Knockout HeLa Cell Line | EDJ-KQ57454 | Human | 83596 | Details Get a Quote |
| BCL2L15 Knockout HeLa Cell Line | EDJ-KQ60399 | Human | 440603 | Details Get a Quote |
Displaying Records 1 To 15 Of 24 Records
