BCL2A1
BCL2 Related Protein A1
Gene Information Card
| Symbol | BCL2A1 |
|---|---|
| Full Name | BCL2 Related Protein A1 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q25.1 |
| NCBI Gene ID | 597 ncbi.nlm.nih.gov/gene/597 |
| Ensembl ID | ENSG00000140379 |
| UniProt ID | Q16548 |
| OMIM ID | 601056 |
| HGNC ID | 991 |
| Aliases | BFL1, GRS, HBPA1, ACC-1, ACC-2 |
Description
BCL2A1 encodes a member of the BCL-2 family of proteins that regulate apoptosis. The protein is a pro-survival (anti-apoptotic) factor, primarily expressed in hematopoietic tissues. It inhibits apoptosis by binding to and sequestering pro-apoptotic BCL-2 family members such as BID, BAX, and BAK. BCL2A1 is induced by inflammatory signals and is implicated in immune cell survival, cancer progression, and chemoresistance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diffuse Large B-Cell Lymphoma | Overexpression of BCL2A1 confers resistance to apoptosis, promoting tumor survival | PMID: 23233716 |
| Chronic Lymphocytic Leukemia | Upregulation of BCL2A1 protects CLL cells from drug-induced apoptosis | PMID: 23633568 |
| Melanoma | BCL2A1 amplification or overexpression contributes to resistance to BRAF inhibitors | PMID: 25024097 |
| Breast Cancer | High BCL2A1 expression associated with poor prognosis and resistance to chemotherapy | PMID: 21502544 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Lymph Node | 9.2 | Medium |
| Whole Blood | 6.3 | Low |
| Lung | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.3 | High expression |
| HL-60 (leukemia) | 12.7 | High expression |
| HeLa (cervical) | 4.5 | Low expression |
| A549 (lung) | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon, unknown functional effect |
| c.100C>T (p.Arg34Cys) | missense | <0.01% | Rare variant, uncertain significance |
| c.200T>C (p.Leu67Pro) | missense | <0.01% | Rare variant, uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in COSMIC or ClinVar.
Gain of Function (GOF)
Amplification or overexpression is common in cancers, but specific gain-of-function point mutations are not documented.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Apoptosis (KEGG hsa04210)
• BCL-2 family protein interactions (Reactome R-HSA-109581)
• Intrinsic Pathway for Apoptosis (Reactome R-HSA-109606)
Protein Summary
BCL2A1 (also known as BFL1) is a 175-amino-acid anti-apoptotic protein belonging to the BCL-2 family. It contains a BH1, BH2, and BH3-binding groove but lacks a BH4 domain. The protein localizes to mitochondria and the nuclear membrane, where it inhibits apoptosis by binding pro-apoptotic BH3-only proteins (e.g., BID, BIM) and effectors (BAX, BAK). BCL2A1 is transcriptionally induced by NF-κB and other inflammatory signals, playing a key role in hematopoietic cell survival. Overexpression is frequently observed in hematologic malignancies and solid tumors, contributing to chemoresistance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BCL2A1 Knockout HEK293 Cell Line | EDJ-KQ542 | Human | 597 | Details Get a Quote |
| BCL2A1 Knockout A-549 Cell Line | EDJ-KQ18915 | Human | 597 | Details Get a Quote |
| BCL2A1 Knockout HeLa Cell Line | EDJ-KQ52710 | Human | 597 | Details Get a Quote |
| BCL2A1 Knockout HCT 116 Cell Line | EDJ-KQ69672 | Human | 597 | Details Get a Quote |
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