FOXK1: Forkhead Box K1 Gene
Transcriptional Regulator in Development and Cancer
Gene Information Card
| Symbol | FOXK1 |
|---|---|
| Full Name | Forkhead Box K1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 7p22.1 |
| NCBI Gene ID | 221937 ncbi.nlm.nih.gov/gene/221937 |
| Ensembl ID | ENSG00000164916 |
| UniProt ID | P85037 |
| OMIM ID | 616302 |
| HGNC ID | 23480 |
| Aliases | FOXK1A, MGC16169 |
Description
FOXK1 encodes a member of the forkhead box (FOX) family of transcription factors, characterized by a conserved forkhead DNA-binding domain. FOXK1 regulates gene expression involved in cell proliferation, differentiation, and metabolism. It plays roles in myogenesis, neurogenesis, and cancer progression, where it can act as an oncogene or tumor suppressor depending on context.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | FOXK1 overexpression promotes Wnt/β-catenin signaling and cell proliferation | PMID: 25944712 |
| Hepatocellular Carcinoma | FOXK1 enhances glycolysis and tumor growth via HIF-1α | PMID: 29367642 |
| Gastric Cancer | FOXK1 upregulation correlates with poor prognosis and metastasis | PMID: 27565994 |
| Breast Cancer | FOXK1 drives epithelial-mesenchymal transition (EMT) | PMID: 28397828 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal Muscle | 12.5 | Medium |
| Heart | 9.8 | Medium |
| Brain | 6.2 | Low |
| Liver | 4.1 | Low |
| Colon | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Embryonic kidney; high expression |
| HeLa | 8.7 | Cervical cancer; moderate expression |
| HepG2 | 6.3 | Hepatocellular carcinoma; moderate expression |
| MCF7 | 4.9 | Breast cancer; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338Trp) | Missense | <0.01% | Unknown functional effect; rare in population |
| c.1456G>A (p.Glu486Lys) | Missense | <0.01% | Reported in COSMIC; potential gain-of-function |
| c.1789_1790insA (p.Thr597Asnfs*12) | Frameshift | <0.01% | Loss-of-function; truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons (e.g., p.Thr597Asnfs*12) are predicted to cause loss of function.
Gain of Function (GOF)
Missense mutations such as p.Glu486Lys may enhance transcriptional activity, though functional validation is limited.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for FOXK1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Wnt signaling pathway
• HIF-1 signaling pathway
• Epithelial-mesenchymal transition (EMT)
• Transcriptional regulation by FOXK1
Protein Summary
FOXK1 is a 733-amino acid transcription factor containing a forkhead DNA-binding domain. It shuttles between nucleus and cytoplasm, regulating target genes involved in cell cycle, metabolism, and differentiation. Post-translational modifications include phosphorylation and acetylation, modulating its activity. FOXK1 interacts with proteins such as SIN3A and HDACs to repress or activate transcription.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FOXK1 Knockout HEK293 Cell Line | EDJ-KQ964 | Human | 221937 | Details Get a Quote |
| FOXK1 Knockout A-549 Cell Line | EDJ-KQ19964 | Human | 221937 | Details Get a Quote |
| FOXK1 Knockout HCT 116 Cell Line | EDJ-KQ19965 | Human | 221937 | Details Get a Quote |
| FOXK1 Knockout HeLa Cell Line | EDJ-KQ19966 | Human | 221937 | Details Get a Quote |
