BCLAF1
BCL2-Associated Transcription Factor 1
Gene Information Card
| Symbol | BCLAF1 |
|---|---|
| Full Name | BCL2-associated transcription factor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q23.3 |
| NCBI Gene ID | 9774 ncbi.nlm.nih.gov/gene/9774 |
| Ensembl ID | ENSG00000129353 |
| UniProt ID | Q9NYF8 |
| OMIM ID | 612588 |
| HGNC ID | 16863 |
| Aliases | BTF, KIAA0164, BTF1 |
Description
BCLAF1 (BCL2-associated transcription factor 1) encodes a protein that functions as a transcriptional repressor and is involved in apoptosis, DNA damage response, and RNA processing. It interacts with BCL2 family members and plays a role in regulating cell death and survival pathways. The gene is located on chromosome 6q23.3 and is widely expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | BCLAF1 overexpression promotes tumor growth via anti-apoptotic signaling | PMID: 25605248 |
| Breast cancer | Altered BCLAF1 expression linked to poor prognosis and metastasis | PMID: 29057921 |
| Hepatocellular carcinoma | BCLAF1 upregulation correlates with increased cell proliferation | PMID: 30131763 |
| Lung adenocarcinoma | BCLAF1 mutations found in tumor samples, potential driver role | COSMIC v99 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Spleen | 11.5 | Medium |
| Bone marrow | 10.9 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.5 | Embryonic kidney, high expression |
| HeLa | 12.3 | Cervical carcinoma, moderate expression |
| K562 | 11.8 | Leukemia, moderate expression |
| A549 | 9.2 | Lung carcinoma, low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358*) | Nonsense | <0.1% (COSMIC) | Loss of function, truncation |
| c.1456G>A (p.Glu486Lys) | Missense | 0.2% (COSMIC) | Unknown functional impact |
| c.1891_1892insA | Frameshift | <0.1% (COSMIC) | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg358*, c.1891_1892insA) are predicted to cause loss of function via premature truncation or altered reading frame.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in curated databases.
Dominant Negative (DN)
No evidence for dominant-negative effects in current literature or databases.
View complete mutation data：
Gene Ontology (GO)
| • negative regulation of transcription by RNA polymerase II (GO:0000122) | • apoptotic process (GO:0006915) |
| • nucleus (GO:0005634) | • RNA binding (GO:0003723) |
| • protein binding (GO:0005515) |
Pathways
• Apoptosis (KEGG hsa04210)
• p53 signaling pathway (KEGG hsa04115)
• mRNA surveillance pathway (KEGG hsa03015)
Protein Summary
BCLAF1 is a 920-amino-acid nuclear protein that contains a BCL2-binding domain and a C-terminal RNA-binding domain. It acts as a transcriptional repressor by interacting with BCL2 and other factors, modulating apoptosis and cell cycle. The protein also participates in RNA processing and DNA damage response. Its expression is regulated in a tissue-specific manner, and alterations are implicated in several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BCLAF1 Knockout HEK293 Cell Line | EDJ-KQ6742 | Human | 9774 | Details Get a Quote |
| BCLAF1 Knockout HCT 116 Cell Line | EDJ-KQ31142 | Human | 9774 | Details Get a Quote |
| BCLAF1 Knockout HeLa Cell Line | EDJ-KQ31143 | Human | 9774 | Details Get a Quote |
| BCLAF1 Knockout A-549 Cell Line | EDJ-KQ63731 | Human | 9774 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
