HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
BCLAF1
BCL2 associated transcription factor 1
Chromosome 6 · 6q23.3
NCBI Gene: 9774Ensembl: ENSG00000029363.17HGNC: HGNC:16863UniProt: E9PK91
273PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmnuclear speckDNA bindingpositive regulation of DNA-templated transcription initiationneurodegenerative diseasePulmonary artery atresiaacute myeloid leukemiaVertigo
✦AI Summary

BCLAF1 is a multifunctional transcriptional regulator and post-transcriptional factor with context-dependent roles in disease. Originally characterized as a death-promoting transcriptional repressor 1, BCLAF1 has evolved as a recognized player in diverse biological processes including DNA damage response, pre-mRNA splicing, and mRNA metabolism 2. The protein functions through multiple mechanisms: it regulates transcription factor activity (notably MYC through BCKDK-mediated phosphorylation at serine 285) 3, controls chr6 accessibility by activating RNA polymerase II 4, and stabilizes proteins like PD-L1 by competing with E3 ligases for binding 5. In cancer biology, BCLAF1 demonstrates context-dependent effects—acting as a tumor promoter in esophageal and lung cancers by enhancing glycolysis and proliferation 6, while potentially suppressing tumors in other contexts 1. Beyond malignancy, BCLAF1 influences macrophage-mediated MAPK signaling in systemic sclerosis-related interstitial lung disease, where it contributes to oxidative stress-driven lung fibrosis 7. Nuclear p85β cooperates with BCLAF1 in transcriptional regulation, including positive autoregulation of BCLAF1 itself 8. These diverse roles establish BCLAF1 as a pleiotropic regulator warranting consideration as a therapeutic target across multiple disease contexts.

Sources cited
1
BCLAF1 is a multifunctional protein associated with apoptosis regulation, transcription control, DNA damage response, splicing, T-cell activation, and tumor biology with context-dependent roles as tumor promoter or suppressor
PMID: 34992690
2
BCLAF1 functions in post-transcriptional processes affecting mRNA metabolism beyond direct roles in apoptosis or transcription
PMID: 20661537
3
BCKDK phosphorylates BCLAF1 at serine 285 to enhance MYC transcription, promoting aerobic glycolysis and Trametinib resistance in lung cancer
PMID: 40442441
4
BCLAF1 interacts with YTHDF2 to regulate SIX1 mRNA degradation, promoting glycolysis and progression in esophageal squamous cell carcinoma
PMID: 38636894
5
BCLAF1 activates RNA polymerase II transcription and splicing through super-enhancer-driven mechanisms to enhance chromatin accessibility in esophageal carcinogenesis
PMID: 40220379
6
BCLAF1 binds SPOP to competitively inhibit PD-L1 ubiquitination and degradation, promoting immune escape in hepatocellular carcinoma
PMID: 38340178
7
BCLAF1 influences MAPK activation in macrophages contributing to oxidative stress-driven lung fibrosis in systemic sclerosis-related interstitial lung disease
PMID: 38937794
8
Nuclear p85β cooperates with BCLAF1 in genome-wide transcriptional regulation including positive autoregulation of BCLAF1 through TRIM28 and ZNF263
PMID: 40016211
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.51Moderate
Pulmonary artery atresiaOpen Targets
0.42Moderate
acute myeloid leukemiaOpen Targets
0.36Weak
VertigoOpen Targets
0.30Weak
bronchial diseaseOpen Targets
0.27Weak
Uterine CarcinosarcomaOpen Targets
0.24Weak
melanomaOpen Targets
0.23Weak
hepatocellular carcinomaOpen Targets
0.21Weak
gastric adenocarcinomaOpen Targets
0.21Weak
prostate adenocarcinomaOpen Targets
0.21Weak
esophageal squamous cell carcinomaOpen Targets
0.19Weak
non-small cell lung carcinomaOpen Targets
0.19Weak
gliomaOpen Targets
0.19Weak
chronic lymphocytic leukemiaOpen Targets
0.19Weak
osteosarcomaOpen Targets
0.19Weak
colon adenocarcinomaOpen Targets
0.19Weak
urinary bladder carcinomaOpen Targets
0.19Weak
multiple myelomaOpen Targets
0.19Weak
gastrointestinal stromal tumorOpen Targets
0.19Weak
small cell lung carcinomaOpen Targets
0.19Weak
Pathogenic Variants2
NM_014739.3(BCLAF1):c.493C>A (p.Gln165Lys)Pathogenic
Pulmonary artery atresia
☆☆☆☆→ Residue 165
NM_014739.3(BCLAF1):c.813G>T (p.Arg271Ser)Pathogenic
Pulmonary artery atresia
☆☆☆☆→ Residue 271
View on ClinVar ↗
Related Genes
RBM15Protein interaction100%CBLL1Protein interaction100%VIRMAProtein interaction100%SNW1Protein interaction100%U2AF2Protein interaction99%H2AXProtein interaction97%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
34%
Ovary
28%
Lung
18%
Heart
16%
Liver
14%
Gene Interaction Network
Click a node to explore
BCLAF1RBM15CBLL1VIRMASNW1U2AF2H2AX
PROTEIN STRUCTURE
Preparing viewer…
PDB7RJR · 1.45 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.21Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.13 [0.08–0.21]
RankingsWhere BCLAF1 stands among ~20K protein-coding genes
  • #1,337of 20,598
    Most Researched273 · top 10%
  • #4,219of 5,498
    Most Pathogenic Variants2
  • #523of 17,882
    Most Constrained (LOEUF)0.21 · top 5%
Genes detectedBCLAF1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Macrophages as determinants and regulators of systemic sclerosis-related interstitial lung disease.
PMID: 38937794
J Transl Med · 2024
1.00
2
Function of BCLAF1 in human disease.
PMID: 34992690
Oncol Lett · 2022
0.90
3
BCLAF1 drives esophageal squamous cell carcinoma progression through regulation of YTHDF2-dependent SIX1 mRNA degradation.
PMID: 38636894
Cancer Lett · 2024
0.80
4
Targeting the BCKDK/BCLAF1/MYC/HK2 axis to alter aerobic glycolysis and overcome Trametinib resistance in lung cancer.
PMID: 40442441
Cell Death Differ · 2025
0.70
5
BCLAF1 binds SPOP to stabilize PD-L1 and promotes the development and immune escape of hepatocellular carcinoma.
PMID: 38340178
Cell Mol Life Sci · 2024
0.60