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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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FOXA1
forkhead box A1
Chromosome 14 · 14q21.1
NCBI Gene: 3169Ensembl: ENSG00000129514.8HGNC: HGNC:5021UniProt: P55317
359PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
RESEARCH IMPACT
Highly StudiedTrending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
transcription cis-regulatory region bindingRNA polymerase II cis-regulatory region sequence-specific DNA bindingDNA bindingprotein bindingprostate adenocarcinomabreast adenocarcinomaprostate carcinomabreast ductal adenocarcinoma
✦AI Summary

FOXA1 is a pioneer transcription factor that acts as a master regulator of gene expression through chr14 remodeling and epigenetic reprogramming 1. It functions by opening compacted chr14 and replacing linker histones at enhancer and promoter sites, enabling other transcriptional machinery access to DNA 2. FOXA1 regulates multiple developmental and physiological processes, including embryonic endoderm development, tissue-specific gene expression in liver, pancreas, lung, and prostate, and glucose homeostasis 1. In disease contexts, FOXA1 dysregulation drives cancer progression across multiple tissue types. FOXA1 is amplified in esophageal and lung cancers 1, and orchestrates alternative splicing in prostate cancer to suppress nonsense-mediated decay, promoting disease recurrence 3. In pancreatic cancer metastasis, FOXA1-dependent enhancer reprogramming activates embryonic foregut endoderm programs, increasing invasiveness and metastatic potential 4. FOXA1 mutations, particularly in the forkhead domain, confer gain-of-function phenotypes with mutant-specific alterations in pioneering activity and chr14 accessibility, promoting luminal differentiation or neuroendocrine plasticity depending on mutation location 2. In breast cancer, O-GlcNAcylation of FOXA1 enhances its chr14 assembly and stability, promoting metastasis through altered transcription of adhesion-related genes 5. Conversely, FOXA1 suppression via the S1PR1/p-STAT1/miR-30c-5p pathway inhibits lung adenocarcinoma progression 6.

Sources cited
1
FOXA1 is a member of the FOX transcription factor family; FOXA1 is amplified and over-expressed in esophageal and lung cancer; deregulation leads to carcinogenesis
PMID: 15492844
2
FOXA1 acts as a pioneer factor; FOXA1 mutations in the forkhead domain (Wing2 and R219 hotspots) alter pioneering activity and chromatin accessibility; mutations confer gain-of-function in prostate cancer
PMID: 31243370
3
FOXA1 orchestrates alternative splicing dysregulation in prostate cancer by regulating splicing factor genes; FOXA1 controls trans-acting factors to influence isoform production and NMD-targeted splicing
PMID: 36170835
4
FOXA1 is a pioneer factor driving enhancer activation during pancreatic cancer metastasis; FOXA1-dependent enhancer reprogramming activates embryonic foregut endoderm transcriptional programs
PMID: 28757253
5
O-GlcNAcylation of FOXA1 promotes breast cancer metastasis by regulating FOXA1 stability and chromatin assembly; this modification orchestrates transcription of metastasis regulators
PMID: 37595040
6
FOXA1 is regulated via the p-STAT1/miR-30c-5p pathway; FOXA1 suppression inhibits lung adenocarcinoma proliferation, migration, and invasion by reducing MMP1, COL5A1, and SERPINE1 expression
PMID: 39551792
Disease Associationsⓘ20
prostate adenocarcinomaOpen Targets
0.66Moderate
breast adenocarcinomaOpen Targets
0.51Moderate
prostate carcinomaOpen Targets
0.42Moderate
breast ductal adenocarcinomaOpen Targets
0.37Weak
Breast Carcinoma by Gene Expression ProfileOpen Targets
0.37Weak
lobular breast carcinomaOpen Targets
0.37Weak
Mixed Lobular and Ductal Breast CarcinomaOpen Targets
0.37Weak
Prostate Small Cell CarcinomaOpen Targets
0.37Weak
breast carcinomaOpen Targets
0.34Weak
colorectal adenocarcinomaOpen Targets
0.32Weak
hepatocellular carcinomaOpen Targets
0.31Weak
non-small cell lung carcinomaOpen Targets
0.30Weak
lung adenocarcinomaOpen Targets
0.30Weak
gliomaOpen Targets
0.30Weak
urinary bladder carcinomaOpen Targets
0.30Weak
osteosarcomaOpen Targets
0.29Weak
small cell lung carcinomaOpen Targets
0.29Weak
esophageal squamous cell carcinomaOpen Targets
0.29Weak
diffuse large B-cell lymphomaOpen Targets
0.29Weak
bladder transitional cell carcinomaOpen Targets
0.28Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CDK1Protein interaction100%TLE3Protein interaction98%HDAC7Protein interaction98%MYCProtein interaction96%TP53Protein interaction95%FOSProtein interaction94%
Tissue Expression6 tissues
Liver
100%
Brain
31%
Lung
9%
Bone Marrow
2%
Ovary
0%
Heart
0%
Gene Interaction Network
Click a node to explore
FOXA1CDK1TLE3HDAC7MYCTP53FOS
PROTEIN STRUCTURE
Preparing viewer…
PDB7VOX · 2.10 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.57Moderately Constrained
pLIⓘ
0.89Intermediate
Observed/Expected LoF0.31 [0.17–0.57]
RankingsWhere FOXA1 stands among ~20K protein-coding genes
  • #861of 20,598
    Most Researched359 · top 5%
  • #3,802of 17,882
    Most Constrained (LOEUF)0.57 · top quartile
Genes detectedFOXA1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Human FOX gene family (Review).
PMID: 15492844
Int J Oncol · 2004
1.00
2
FOXA1 regulates alternative splicing in prostate cancer.
PMID: 36170835
Cell Rep · 2022
0.90
3
Enhancer Reprogramming Promotes Pancreatic Cancer Metastasis.
PMID: 28757253
Cell · 2017
0.80
4
Redirecting the pioneering function of FOXA1 with covalent small molecules.
PMID: 39413792
Mol Cell · 2024
0.72
5
S1PR1 suppresses lung adenocarcinoma progression through p-STAT1/miR-30c-5 p/FOXA1 pathway.
PMID: 39551792
J Exp Clin Cancer Res · 2024
0.70