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FLASH GENE
Symbol FOXP1 contributors: mct - updated : 02-02-2016
HGNC name forkhead box P1
HGNC id 3823
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • 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
    • HOMOLOGY
    intraspecies paralog to FOXP3
    homolog to FOXP2
    Homologene
    FAMILY
  • HNF-3 FKH family of transcriptional regulators
    • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    intracellular,nucleus,nucleolus
    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
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • 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
    REGULATION
    ASSOCIATED DISORDERS
    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
    Susceptibility
  • 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
    Marker
    Therapy target
    ANIMAL & CELL MODELS