FOXP1 Gene: Forkhead Box P1
Transcriptional Regulator in Development, Immunity, and Cancer
Gene Information Card
| Symbol | FOXP1 |
|---|---|
| Full Name | Forkhead Box P1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p13 |
| NCBI Gene ID | 27086 ncbi.nlm.nih.gov/gene/27086 |
| Ensembl ID | ENSG00000114861 |
| UniProt ID | Q9H334 |
| OMIM ID | 605515 |
| HGNC ID | 3823 |
| Aliases | hFKH1B, HSPC215, MFH, QRF1, 12CC4 |
Description
FOXP1 (Forkhead Box P1) encodes a member of the FOX family of transcription factors characterized by a conserved forkhead DNA-binding domain. FOXP1 functions as a transcriptional repressor or activator depending on cellular context and interacting partners. It plays critical roles in embryonic development, particularly in the brain, heart, lung, and immune system. FOXP1 is also implicated in B-cell lymphomagenesis and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| FOXP1 syndrome (intellectual disability, autism spectrum disorder) | Haploinsufficiency due to loss-of-function mutations or deletions leads to reduced FOXP1 dosage, disrupting neuronal gene expression programs. | ClinVar, OMIM |
| Diffuse large B-cell lymphoma (DLBCL) | FOXP1 overexpression via gene amplification or translocation t(3;14)(p13;q32) with IGH enhancer drives oncogenic transcriptional programs. | COSMIC, NCBI |
| Mucosa-associated lymphoid tissue (MALT) lymphoma | FOXP1 translocations (e.g., t(3;14)) result in constitutive activation, promoting B-cell survival. | COSMIC, NCBI |
| Hereditary spastic paraplegia (rare) | Missense mutations in FOXP1 may impair axonal development. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Lung | 8.3 | Medium |
| Heart | 6.1 | Low |
| Spleen | 15.2 | Medium |
| Lymph node | 18.7 | Medium |
| Testis | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 10.2 | Moderate expression |
| HeLa (cervical) | 7.8 | Moderate expression |
| HepG2 (liver) | 5.1 | Low expression |
| SH-SY5Y (neuroblastoma) | 14.6 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1574C>T (p.Thr525Met) | Missense | Rare | Reduced DNA-binding affinity; associated with FOXP1 syndrome |
| c.1264C>T (p.Arg422*) | Nonsense | Rare | Loss of function; premature truncation |
| Whole gene deletion (3p13) | Copy number loss | Rare | Haploinsufficiency; severe neurodevelopmental phenotype |
| t(3;14)(p13;q32) | Translocation | Recurrent in DLBCL | IGH-FOXP1 fusion; overexpression |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and missense mutations that impair DNA binding or protein stability lead to haploinsufficiency, causing FOXP1 syndrome.
Gain of Function (GOF)
Translocations (e.g., t(3;14)) and gene amplifications result in FOXP1 overexpression, contributing to B-cell lymphoma.
Dominant Negative (DN)
Some missense mutations may produce proteins that interfere with wild-type FOXP1 function, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• B-cell receptor signaling pathway (Reactome: R-HSA-983705)
• Transcriptional regulation by FOXP1 (GeneCards)
Protein Summary
FOXP1 is a 677-amino acid transcription factor containing a forkhead DNA-binding domain, a zinc finger domain, and a leucine zipper motif. It forms homodimers and heterodimers with FOXP2 and FOXP4. The protein regulates genes involved in neuronal differentiation, immune cell development, and organogenesis. Post-translational modifications include phosphorylation and acetylation, modulating its activity and stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FOXP1 Knockout HEK293 Cell Line | EDJ-KQ51202 | Human | 27086 | Details Get a Quote |
| FOXP1 Knockout HeLa Cell Line | EDJ-KQ55996 | Human | 27086 | Details Get a Quote |
| FOXP1 Knockout A-549 Cell Line | EDJ-KQ64484 | Human | 27086 | Details Get a Quote |
| FOXP1 Knockout HCT 116 Cell Line | EDJ-KQ72939 | Human | 27086 | Details Get a Quote |
