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Symbol FOXP1 contributors: mct - updated : 02-02-2016
HGNC name forkhead box P1
HGNC id 3823
   expressed in (based on citations)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain     Homo sapiens
 brainbasal nucleistriatum highly Homo sapiens
 braindiencephalonthalamus   Homo sapiens
 brainforebraincerebral cortex   Homo sapiens
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron Homo sapiensFetal
cell lineage
cell lines
physiological period fetal
Text in the developing CNS, including the striatum, cerebral cortex, and thalamus
  • a forkhead (winged helix) domain with two loops wings in the C terminal side of helix-turn-helix homeodomain
  • a second DNA-binding motif
  • a C2H2 zinc finger
  • nuclear localization signals (NLS)
  • coiled-coil region
  • PEST sequences and potential transactivation domains
    intraspecies paralog to FOXP3
    homolog to FOXP2
  • HNF-3 FKH family of transcriptional regulators
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    basic FUNCTION
  • transcriptional repressor playing an important role in the specification and differentiation of lung epithelium
  • androgen-responsive transcription factor that negatively regulates androgen receptor signaling in prostate cancer cells
  • crucial regulator of lung and esophageal development, underscoring the necessity of this transcription factor in the development of anterior foregut-derived tissues
  • FOXP1 and FOXP2 may be involved in the determination of the cell type identities during late embryogenesis
  • androgen-regulated gene, could be involved in the regulatory feedback loops for AR signaling
  • essential transcriptional regulator for thymocyte development and the generation of quiescent naive T cells
  • essential for the development of B cells, quiescent naive T cells and monocytes
  • may play a role in the development of verbal and motor skill
  • opposing transcriptional activities of FOXP1 and NFATC4 maintaining cardiomyocyte homeostasis
  • critical roles for FOXP1 in the specification of cell lineages in early development
  • FOXP1-regulated pathways might be important mediators of neuronal-glial cell communication
  • is physiologically downregulated in germinal center B-cell and aberrant expression of FOXP1 impairs mechanisms triggered by B-cell activation, potentially contributing to B-cell lymphomagenesis
  • represents an important modulator of FOXO-induced transcription, promoting cellular survival
  • is crucial for maintaining the quiescence of hair follicle stem cells
  • is essential for the angiogenic function of endothelial cells and functions as a suppressor of the inhibitory guidance cue SEMA5B, suggesting an important function of FOXP1 in the regulation of neovascularization
  • is a critical negative regulator of CD4(+) follicular helper T cells (T(FH) cells) differentiation
  • may play a central role in various cognitive and social processes
  • IKZF1 and FOXP1 are transcription factors that play key roles in normal lymphopoiesis and lymphoid malignancies
  • CELLULAR PROCESS nucleotide, transcription, regulation
    cell organization/biogenesis
    a component
    DNA binding
    small molecule
  • directly interacts with AR and negatively regulates AR signaling ligand-dependently
  • functional interaction between NCOR2 and FOXP1 is required for cardiac growth and regulation of macrophage differentiation
  • FOXP1 and FOXP2 can physically interact and can repress the transcription of common targets in vivo by occupying the same binding sites
  • transcription regulatory role for FOXP1 on the PITX3 gene in mammalian stem cells
  • FOXP1 may compensate for the loss of FOXP2 and a level of redundancy exists between these two genes
  • FOXP1 regulates the quiescent stem cell state in the hair follicle stem cell niche by controlling FGF18 expression (pMID: 23946441)
  • SEMA5B acts as a FOXP1- dependent suppressor of endothelial cell proliferation, migration and sprouting, mediating the effects of FOXP1
  • is dependent upon, and cooperates with NFKB1 signaling to promote B-cell expansion and survival
  • interactions between FOXP1 and ESR1 may play a pivotal role in the progression of ovarian cancer
  • GPR132 is a novel target for FOXP1
  • cell & other
    corresponding disease(s) MRLA , DLCRM
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   LOH    
    in neoplastic cells, see TSG3G
    tumoral fusion      
    with IGHG1, t(3;14)(p14;q32) in diffuse large B-cell lymphoma
    constitutional germinal mutation      
    in sporadic autism spectrum disorders
    tumoral     --over  
    its expression negatively correlated with MKI67 expression in clear cell renal cell carcinomas
    tumoral fusion      
    with PAX5 in t(3;9)(p13;p13) recurrent in both childhood and in adult B-ALL
    tumoral     --low  
    is a common event in high-risk neuroblastoma pathogenesis and may contribute to tumor progression and unfavorable patient outcome
    constitutional       loss of function
    in autism spectrum disorder, gross motor delay, intellectual disability, expressive language impairment
  • to vitiligo
  • to language impairment, and autism spectrum disorders
  • Variant & Polymorphism SNP
  • rs17008713, located within FOXP1 associated with Vitiligo
  • nonsense mutation [p.R525X]) in the conserved forkhead DNA-binding domain associated with language impairment and autism (FOXP1 haploinsufficiency affects language development and possibly causes language impairment, and autism spectrum disorders (ASD) by disrupting this regulatory interaction)
  • FOXP1 variants are responsible for a more global cognitive phenotype, encompassing language impairment, intellectual disability, ASD and motor development delay
  • Candidate gene
    Therapy target