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Aliases for FOXP1 Gene

Aliases for FOXP1 Gene

  • Forkhead Box P1 2 3
  • Fork Head-Related Protein Like B 2 3
  • Mac-1-Regulated Forkhead 3 4
  • Glutamine-Rich Factor 1 2 3
  • QRF1 3 6
  • MFH 3 4
  • PAX5/FOXP1 Fusion Protein 2
  • Forkhead Box Protein P1 3
  • HSPC215 3
  • HFKH1B 3
  • 12CC4 3

External Ids for FOXP1 Gene

Summaries for FOXP1 Gene

Entrez Gene Summary for FOXP1 Gene

  • 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for FOXP1 Gene

FOXP1 (Forkhead Box P1) is a Protein Coding gene. Diseases associated with FOXP1 include mental retardation with language impairment and autistic features and intellectual disability-severe speech delay-mild dysmorphism syndrome. Among its related pathways are MicroRNAs in cancer and Wnt / Hedgehog / Notch. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is FOXP3.

UniProtKB/Swiss-Prot for FOXP1 Gene

  • Transcriptional repressor (PubMed:18347093). Can act with CTBP1 to synergistically repress transcription but CTPBP1 is not essential (By similarity). Plays an important role in the specification and differentiation of lung epithelium. Acts cooperatively with FOXP4 to regulate lung secretory epithelial cell fate and regeneration by restricting the goblet cell lineage program; the function may involve regulation of AGR2. Essential transcriptional regulator of B-cell development. Involved in regulation of cardiac muscle cell proliferation. Involved in the columnar organization of spinal motor neurons. Promotes the formation of the lateral motor neuron column (LMC) and the preganglionic motor column (PGC) and is required for respective appropriate motor axon projections. The segment-appropriate generation of spinal chord motor columns requires cooperation with other Hox proteins. Can regulate PITX3 promoter activity; may promote midbrain identity in embryonic stem cell-derived dopamine neurons by regulating PITX3. Negatively regulates the differentiation of T follicular helper cells T(FH)s. Involved in maintainance of hair follicle stem cell quiescence; the function probably involves regulation of FGF18 (By similarity). Represses transcription of various pro-apoptotic genes and cooperates with NF-kappa B-signaling in promoting B-cell expansion by inhibition of caspase-dependent apoptosis (PubMed:25267198). Binds to CSF1R promoter elements and is involved in regulation of monocyte differentiation and macrophage functions; repression of CSF1R in monocytes seems to involve NCOR2 as corepressor (PubMed:15286807, PubMed:18799727, PubMed:18347093). Involved in endothelial cell proliferation, tube formation and migration indicative for a role in angiogenesis; the role in neovascularization seems to implicate suppression of SEMA5B (PubMed:24023716). Can negatively regulate androgen receptor signaling (PubMed:18640093).

  • Isoform 8: Involved in transcriptional regulation in embryonic stem cells (ESCs). Stimulates expression of transcription factors that are required for pluripotency and decreases expression of differentiation-associated genes. Has distinct DNA-binding specifities as compared to the canonical form and preferentially binds DNA with the sequence 5-CGATACAA-3 (or closely related sequences) (PubMed:21924763). Promotes ESC self-renewal and pluripotency (By similarity).

Gene Wiki entry for FOXP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FOXP1 Gene

Genomics for FOXP1 Gene

Genomic Location for FOXP1 Gene

Start:
70,954,693 bp from pter
End:
71,583,989 bp from pter
Size:
629,297 bases
Orientation:
Minus strand

Genomic View for FOXP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FOXP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FOXP1 Gene

Regulatory Elements for FOXP1 Gene

Proteins for FOXP1 Gene

  • Protein details for FOXP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H334-FOXP1_HUMAN
    Recommended name:
    Forkhead box protein P1
    Protein Accession:
    Q9H334
    Secondary Accessions:
    • A3QVP8
    • B3KV70
    • G5E9V8
    • Q8NAN6
    • Q9BSG9
    • Q9H332
    • Q9H333
    • Q9P0R1

    Protein attributes for FOXP1 Gene

    Size:
    677 amino acids
    Molecular mass:
    75317 Da
    Quaternary structure:
    • Forms homodimers and heterodimers with FOXP2 and FOXP4 (PubMed:25027557). Dimerization is required for DNA-binding. Interacts with CTBP1 (By similarity). Interacts with NCOR2, AR (PubMed:18347093, PubMed:18640093).
    SequenceCaution:
    • Sequence=AAF36135.1; Type=Frameshift; Positions=531, 545; Evidence={ECO:0000305}; Sequence=ABI33105.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB55005.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FOXP1 Gene

    Alternative splice isoforms for FOXP1 Gene

neXtProt entry for FOXP1 Gene

Proteomics data for FOXP1 Gene at MOPED

Post-translational modifications for FOXP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FOXP1 Gene

Domains for FOXP1 Gene

Gene Families for FOXP1 Gene

HGNC:
  • FOX :Forkhead boxes

Protein Domains for FOXP1 Gene

UniProtKB/Swiss-Prot:

FOXP1_HUMAN
Domain:
  • The leucine-zipper is required for dimerization and transcriptional repression.:
    • Q9H334
  • Contains 1 fork-head DNA-binding domain.:
    • Q9H334
Similarity:
  • Contains 1 C2H2-type zinc finger.:
    • Q9H334
genes like me logo Genes that share domains with FOXP1: view

Function for FOXP1 Gene

Molecular function for FOXP1 Gene

UniProtKB/Swiss-Prot Function: Transcriptional repressor (PubMed:18347093). Can act with CTBP1 to synergistically repress transcription but CTPBP1 is not essential (By similarity). Plays an important role in the specification and differentiation of lung epithelium. Acts cooperatively with FOXP4 to regulate lung secretory epithelial cell fate and regeneration by restricting the goblet cell lineage program; the function may involve regulation of AGR2. Essential transcriptional regulator of B-cell development. Involved in regulation of cardiac muscle cell proliferation. Involved in the columnar organization of spinal motor neurons. Promotes the formation of the lateral motor neuron column (LMC) and the preganglionic motor column (PGC) and is required for respective appropriate motor axon projections. The segment-appropriate generation of spinal chord motor columns requires cooperation with other Hox proteins. Can regulate PITX3 promoter activity; may promote midbrain identity in embryonic stem cell-derived dopamine neurons by regulating PITX3. Negatively regulates the differentiation of T follicular helper cells T(FH)s. Involved in maintainance of hair follicle stem cell quiescence; the function probably involves regulation of FGF18 (By similarity). Represses transcription of various pro-apoptotic genes and cooperates with NF-kappa B-signaling in promoting B-cell expansion by inhibition of caspase-dependent apoptosis (PubMed:25267198). Binds to CSF1R promoter elements and is involved in regulation of monocyte differentiation and macrophage functions; repression of CSF1R in monocytes seems to involve NCOR2 as corepressor (PubMed:15286807, PubMed:18799727, PubMed:18347093). Involved in endothelial cell proliferation, tube formation and migration indicative for a role in angiogenesis; the role in neovascularization seems to implicate suppression of SEMA5B (PubMed:24023716). Can negatively regulate androgen receptor signaling (PubMed:18640093).
UniProtKB/Swiss-Prot Function: Isoform 8: Involved in transcriptional regulation in embryonic stem cells (ESCs). Stimulates expression of transcription factors that are required for pluripotency and decreases expression of differentiation-associated genes. Has distinct DNA-binding specifities as compared to the canonical form and preferentially binds DNA with the sequence 5-CGATACAA-3 (or closely related sequences) (PubMed:21924763). Promotes ESC self-renewal and pluripotency (By similarity).
UniProtKB/Swiss-Prot Induction: By androgen in an isoform-specific manner; expression of isoform 4 is greatly induced.

Gene Ontology (GO) - Molecular Function for FOXP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding --
GO:0000981 sequence-specific DNA binding RNA polymerase II transcription factor activity IBA --
GO:0003677 DNA binding --
GO:0003682 chromatin binding --
GO:0003700 sequence-specific DNA binding transcription factor activity --
genes like me logo Genes that share ontologies with FOXP1: view
genes like me logo Genes that share phenotypes with FOXP1: view

Animal Models for FOXP1 Gene

MGI Knock Outs for FOXP1:
Targeting motifs for FOXP1 Gene
HOMER Transcription Factor Regulatory Elements motif FOXP1
  • Consensus sequence: NYYTGTTTACHN Submotif: canonical Cell Type: H9 GeoId: GSE31006

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targeting for FOXP1 Gene

Localization for FOXP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FOXP1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FOXP1 Gene COMPARTMENTS Subcellular localization image for FOXP1 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for FOXP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 25027557
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with FOXP1: view

Pathways for FOXP1 Gene

genes like me logo Genes that share pathways with FOXP1: view

Pathways by source for FOXP1 Gene

1 Cell Signaling Technology pathway for FOXP1 Gene
1 KEGG pathway for FOXP1 Gene

Gene Ontology (GO) - Biological Process for FOXP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter --
GO:0001701 in utero embryonic development --
GO:0002053 positive regulation of mesenchymal cell proliferation --
GO:0002329 pre-B cell differentiation --
GO:0002639 positive regulation of immunoglobulin production --
genes like me logo Genes that share ontologies with FOXP1: view

Transcripts for FOXP1 Gene

Unigene Clusters for FOXP1 Gene

Forkhead box P1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FOXP1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
SP1:
SP2: - -
SP3:
SP4: - -
SP5:
SP6:
SP7:
SP8:

ExUns: 25a · 25b ^ 26a · 26b ^ 27
SP1: - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for FOXP1 Gene

GeneLoc Exon Structure for
FOXP1
ECgene alternative splicing isoforms for
FOXP1

Expression for FOXP1 Gene

mRNA expression in normal human tissues for FOXP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FOXP1 Gene

SOURCE GeneReport for Unigene cluster for FOXP1 Gene Hs.59368

mRNA Expression by UniProt/SwissProt for FOXP1 Gene

Q9H334-FOXP1_HUMAN
Tissue specificity: Isoform 8 is specifically expressed in embryonic stem cells.
genes like me logo Genes that share expressions with FOXP1: view

Orthologs for FOXP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FOXP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FOXP1 36
  • 99.81 (n)
  • 100 (a)
FOXP1 37
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FOXP1 37
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FOXP1 37
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Foxp1 16
Foxp1 37
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FOXP1 37
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FOXP1 37
  • 96 (a)
OneToOne
chicken
(Gallus gallus)
Aves FOXP1 37
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FOXP1 37
  • 85 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.33069 36
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.6946 36
zebrafish
(Danio rerio)
Actinopterygii foxp1b 37
  • 75 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta FoxP 37
  • 33 (a)
OneToMany
CG16899 38
  • 78 (a)
worm
(Caenorhabditis elegans)
Secernentea fkh-7 37
  • 24 (a)
ManyToMany
fkh-8 37
  • 25 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 35 (a)
OneToMany
Species with no ortholog for FOXP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FOXP1 Gene

ENSEMBL:
Gene Tree for FOXP1 (if available)
TreeFam:
Gene Tree for FOXP1 (if available)

Paralogs for FOXP1 Gene

Paralogs for FOXP1 Gene

genes like me logo Genes that share paralogs with FOXP1: view

Variants for FOXP1 Gene

Sequence variations from dbSNP and Humsavar for FOXP1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs4050 -- 71,237,499(+) AAGCA(G/T)TTCAA intron-variant
rs4281 -- 71,343,307(+) ATGTG(C/T)ATACA intron-variant
rs15063 -- 70,959,312(+) ACTGT(A/G)GTTGG reference, missense, nc-transcript-variant
rs15187 -- 70,956,827(+) AGCTT(C/T)AAAAG utr-variant-3-prime, nc-transcript-variant
rs17108 -- 71,477,054(+) TTTAT(A/G)TATCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FOXP1 Gene

Variant ID Type Subtype PubMed ID
nsv834727 CNV Loss 17160897
nsv834728 CNV Loss 17160897
nsv523960 CNV Loss 19592680
nsv876938 CNV Gain 21882294
esv269572 CNV Insertion 20981092
esv269896 CNV Insertion 20981092
esv2534232 CNV Deletion 19546169
esv2725400 CNV Deletion 23290073
esv2677522 CNV Deletion 23128226
nsv524874 CNV Loss 19592680
nsv525539 CNV Gain 19592680
nsv525748 CNV Loss 19592680
esv1025789 CNV Insertion 17803354
nsv237399 CNV Insertion 16902084
esv272787 CNV Insertion 20981092
esv267511 CNV Insertion 20981092
esv2669957 CNV Deletion 23128226
esv271259 CNV Insertion 20981092
nsv508932 CNV Insertion 20534489
esv995297 CNV Insertion 20482838
nsv3871 CNV Loss 18451855
esv2577699 CNV Insertion 19546169
esv1199783 CNV Insertion 17803354
nsv3872 CNV Insertion 18451855
esv24809 CNV Loss 19812545

Relevant External Links for FOXP1 Gene

HapMap Linkage Disequilibrium report
FOXP1
Human Gene Mutation Database (HGMD)
FOXP1

Disorders for FOXP1 Gene

(1) OMIM Diseases for FOXP1 Gene (605515)

UniProtKB/Swiss-Prot

FOXP1_HUMAN
  • Note=A chromosomal aberration involving FOXP1 is found in acute lymphoblastic leukemia. Translocation t(9;3)(p13;p14.1) with PAX5.
  • Mental retardation with language impairment and autistic features (MRLIAF) [MIM:613670]: A developmental disorder characterized by mild to moderate mental retardation, language impairment, and autistic features. Patients show global delay, delayed walking, severely delayed speech development, and behavioral abnormalities, including irritability, hyperactivity, aggression, and stereotypical rigid behaviors. {ECO:0000269 PubMed:20950788}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for FOXP1 Gene

(4) Novoseek inferred disease relationships for FOXP1 Gene

Disease -log(P) Hits PubMed IDs
lymphoma b-cell 72.1 8
speech disorders 69.2 1
tumors 0 8
cancer 0 3

Relevant External Links for FOXP1

Genetic Association Database (GAD)
FOXP1
Human Genome Epidemiology (HuGE) Navigator
FOXP1
genes like me logo Genes that share disorders with FOXP1: view

Publications for FOXP1 Gene

  1. The FOXP1 winged helix transcription factor is a novel candidate tumor suppressor gene on chromosome 3p. (PMID: 11751404) Banham A.H. … Cordell J.L. (Cancer Res. 2001) 2 3 4 23
  2. Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia. (PMID: 19352412) Vernes S.C. … Fisher S.E. (Eur. J. Hum. Genet. 2009) 3 4 49
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 49
  4. Common variants in FOXP1 are associated with generalized vitiligo. (PMID: 20526340) Jin Y. … Spritz R.A. (Nat. Genet. 2010) 3 49
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 49

Products for FOXP1 Gene

Sources for FOXP1 Gene

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