FOXP1

Description

The FOXP1 (forkhead box P1) is a protein-coding gene located on chromosome 3.

Forkhead box protein P1 is a protein that in humans is encoded by the FOXP1 gene. FOXP1 is necessary for the proper development of the brain, heart, and lung in mammals. It is a member of the large FOX family of transcription factors.

== Function == This gene belongs to subfamily P of the forkhead box (FOX) transcription factor family. Forkhead box transcription factors play important roles in the regulation of tissue- and cell type-specific gene transcription during both development and adulthood. Forkhead box P1 protein contains both DNA-binding- and protein-protein binding-domains. This gene may act as a tumor suppressor as it is lost in several tumor types and maps to a chromosomal region (3p14.1) reported to contain a tumor suppressor gene(s). Alternative splicing results in multiple transcript variants encoding different isoforms. Foxp1 is a transcription factor; specifically it is a transcriptional repressor. Fox genes are part of a forkhead DNA-binding domain family.

FOXP1 is a transcriptional repressor (PubMed:18347093, PubMed:26647308). It can repress transcription synergistically with CTBP1, although CTBP1 is not essential (By similarity). FOXP1 plays a key role in lung epithelium development and differentiation. It works with FOXP4 to regulate lung secretory epithelial cell fate and regeneration by controlling the goblet cell lineage; this may involve regulating AGR2. FOXP1 is a critical transcription factor for B-cell development. It is involved in regulating cardiac muscle cell proliferation and the columnar organization of spinal motor neurons. FOXP1 promotes the formation of the lateral motor neuron column (LMC) and the preganglionic motor column (PGC), and is necessary for proper motor axon projection. The generation of spinal cord motor columns requires coordination with other Hox proteins. FOXP1 can regulate PITX3 promoter activity and may promote midbrain identity in embryonic stem cell-derived dopamine neurons by controlling PITX3. It negatively regulates the differentiation of T follicular helper cells T(FH)s. FOXP1 is involved in maintaining hair follicle stem cell quiescence, likely through regulation of FGF18 (By similarity). FOXP1 represses transcription of various pro-apoptotic genes and works with NF-kappa B-signaling to promote B-cell expansion by inhibiting caspase-dependent apoptosis (PubMed:25267198). FOXP1 binds to CSF1R promoter elements and regulates monocyte differentiation and macrophage functions. Repression of CSF1R in monocytes appears to involve NCOR2 as a corepressor (PubMed:15286807, PubMed:18799727, PubMed:18347093). FOXP1 is involved in endothelial cell proliferation, tube formation, and migration, suggesting a role in angiogenesis. Its role in neovascularization seems to involve suppressing SEMA5B (PubMed:24023716). FOXP1 can negatively regulate androgen receptor signaling (PubMed:18640093). It acts as a transcriptional activator of the FBXL7 promoter, and this activity is regulated by AURKA (PubMed:28218735). {ECO:0000250|UniProtKB:P58462, ECO:0000269|PubMed:15286807, ECO:0000269|PubMed:18640093, ECO:0000269|PubMed:18799727, ECO:0000269|PubMed:24023716, ECO:0000269|PubMed:25267198, ECO:0000269|PubMed:26647308, ECO:0000269|PubMed:28218735, ECO:0000305|PubMed:18347093, ECO:0000305|PubMed:24023716}

FOXP1 is also known as 12CC4, HSPC215, MFH, QRF1, hFKH1B.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing