ID:FOXP3_HUMAN DESCRIPTION: RecName: Full=Forkhead box protein P3; AltName: Full=Scurfin; FUNCTION: Probable transcription factor. Plays a critical role in the control of immune response. SUBUNIT: Interacts with IKZF3. INTERACTION: Q9UKT9:IKZF3; NbExp=2; IntAct=EBI-983719, EBI-747204; SUBCELLULAR LOCATION: Nucleus (Potential). PTM: Acetylation on lysine residues stabilizes FOXP3 and promotes differentiation of T-cells into induced regulatory T-cells (iTregs) associated with suppressive functions. Deacetylated by SIRT1. DISEASE: Defects in FOXP3 are the cause of immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]; also known as X-linked autoimmunity-immunodeficiency syndrome. IPEX is characterized by neonatal onset insulin- dependent diabetes mellitus, infections, secretory diarrhea, trombocytopenia, anemia and eczema. It is usually lethal in infancy. SIMILARITY: Contains 1 C2H2-type zinc finger. SIMILARITY: Contains 1 fork-head DNA-binding domain. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/FOXP3ID44129chXp11.html"; WEB RESOURCE: Name=FOXP3base; Note=FOXP3 mutation db; URL="http://bioinf.uta.fi/FOXP3base/"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FOXP3"; WEB RESOURCE: Name=Wikipedia; Note=FOXP3 entry; URL="http://en.wikipedia.org/wiki/FOXP3";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9BZS1
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001047 core promoter binding GO:0003676 nucleic acid binding GO:0003677 DNA binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003714 transcription corepressor activity GO:0005515 protein binding GO:0035035 histone acetyltransferase binding GO:0042803 protein homodimerization activity GO:0042826 histone deacetylase binding GO:0043565 sequence-specific DNA binding GO:0046872 metal ion binding GO:0051059 NF-kappaB binding GO:0051525 NFAT protein binding
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0001782 B cell homeostasis GO:0001816 cytokine production GO:0002262 myeloid cell homeostasis GO:0002361 CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation GO:0002362 CD4-positive, CD25-positive, alpha-beta regulatory T cell lineage commitment GO:0002456 T cell mediated immunity GO:0002507 tolerance induction GO:0002513 tolerance induction to self antigen GO:0002637 regulation of immunoglobulin production GO:0002666 positive regulation of T cell tolerance induction GO:0002667 regulation of T cell anergy GO:0002669 positive regulation of T cell anergy GO:0002677 negative regulation of chronic inflammatory response GO:0002725 negative regulation of T cell cytokine production GO:0002851 positive regulation of peripheral T cell tolerance induction GO:0006338 chromatin remodeling GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006357 regulation of transcription from RNA polymerase II promoter GO:0008285 negative regulation of cell proliferation GO:0009615 response to virus GO:0009653 anatomical structure morphogenesis GO:0010628 positive regulation of gene expression GO:0010629 negative regulation of gene expression GO:0030111 regulation of Wnt signaling pathway GO:0031064 negative regulation of histone deacetylation GO:0032088 negative regulation of NF-kappaB transcription factor activity GO:0032689 negative regulation of interferon-gamma production GO:0032693 negative regulation of interleukin-10 production GO:0032700 negative regulation of interleukin-17 production GO:0032703 negative regulation of interleukin-2 production GO:0032713 negative regulation of interleukin-4 production GO:0032714 negative regulation of interleukin-5 production GO:0032715 negative regulation of interleukin-6 production GO:0032720 negative regulation of tumor necrosis factor production GO:0032753 positive regulation of interleukin-4 production GO:0032792 negative regulation of CREB transcription factor activity GO:0032831 positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation GO:0032914 positive regulation of transforming growth factor beta1 production GO:0033092 positive regulation of immature T cell proliferation in thymus GO:0035066 positive regulation of histone acetylation GO:0035067 negative regulation of histone acetylation GO:0042036 negative regulation of cytokine biosynthetic process GO:0042110 T cell activation GO:0042130 negative regulation of T cell proliferation GO:0043029 T cell homeostasis GO:0043433 negative regulation of sequence-specific DNA binding transcription factor activity GO:0045066 regulatory T cell differentiation GO:0045077 negative regulation of interferon-gamma biosynthetic process GO:0045085 negative regulation of interleukin-2 biosynthetic process GO:0045589 regulation of regulatory T cell differentiation GO:0045591 positive regulation of regulatory T cell differentiation GO:0045892 negative regulation of transcription, DNA-templated GO:0045893 positive regulation of transcription, DNA-templated GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0046007 negative regulation of activated T cell proliferation GO:0048294 negative regulation of isotype switching to IgE isotypes GO:0048302 regulation of isotype switching to IgG isotypes GO:0050672 negative regulation of lymphocyte proliferation GO:0050710 negative regulation of cytokine secretion GO:0050728 negative regulation of inflammatory response GO:0050777 negative regulation of immune response GO:0050852 T cell receptor signaling pathway GO:2000320 negative regulation of T-helper 17 cell differentiation
LQ882884 - Sequence 33 from Patent WO2018160841. AF277993 - Homo sapiens scurfin (FOXP3) mRNA, complete cds. AK299988 - Homo sapiens cDNA FLJ56501 complete cds, highly similar to Forkhead box protein P3. AK292052 - Homo sapiens cDNA FLJ77236 complete cds, highly similar to Homo sapiens forkhead box P3 (FOXP3), mRNA. BC113401 - Homo sapiens forkhead box P3, mRNA (cDNA clone MGC:141961 IMAGE:8322453), complete cds. BC113403 - Homo sapiens forkhead box P3, mRNA (cDNA clone MGC:141963 IMAGE:8322455), complete cds. BC143785 - Homo sapiens forkhead box P3, mRNA (cDNA clone MGC:177316 IMAGE:9052299), complete cds. BC143786 - Homo sapiens forkhead box P3, mRNA (cDNA clone MGC:177317 IMAGE:9052300), complete cds. BC111853 - Synthetic construct Homo sapiens clone IMAGE:40080849, MGC:133403 FOXP3 protein (FOXP3) mRNA, encodes complete protein. DQ010327 - Homo sapiens forkhead box P3 (FOXP3) mRNA, complete cds, alternatively spliced. EF534714 - Homo sapiens FOXP3 mRNA, complete cds. EU855812 - Homo sapiens FOXP3delta7 variant (FOXP3) mRNA, complete cds, alternatively spliced. AJ005891 - Homo sapiens mRNA for JM2 protein, complete CDS (clone LLNLc110K2140Q7 (RZPD Berlin)). HQ258232 - Synthetic construct Homo sapiens clone IMAGE:100072541 forkhead box P3 (FOXP3), transcript variant 1 (FOXP3) gene, encodes complete protein. KJ893767 - Synthetic construct Homo sapiens clone ccsbBroadEn_03161 FOXP3 gene, encodes complete protein. KR711581 - Synthetic construct Homo sapiens clone CCSBHm_00027193 FOXP3 (FOXP3) mRNA, encodes complete protein. KR711582 - Synthetic construct Homo sapiens clone CCSBHm_00027195 FOXP3 (FOXP3) mRNA, encodes complete protein. KR711583 - Synthetic construct Homo sapiens clone CCSBHm_00027196 FOXP3 (FOXP3) mRNA, encodes complete protein. KR711584 - Synthetic construct Homo sapiens clone CCSBHm_00027199 FOXP3 (FOXP3) mRNA, encodes complete protein. KR712214 - Synthetic construct Homo sapiens clone CCSBHm_00900167 FOXP3 (FOXP3) mRNA, encodes complete protein. AB463651 - Synthetic construct DNA, clone: pF1KB7200, Homo sapiens FOXP3 gene for forkhead box P3, without stop codon, in Flexi system. LQ927246 - Sequence 23 from Patent WO2018191660. MP584534 - Sequence 33 from Patent WO2020081767.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q9BZS1 (Reactome details) participates in the following event(s):
R-HSA-8877192 RUNX1 binds FOXP3 R-HSA-8877348 RUNX1, FOXP3 and NFATC2 bind the IL2 gene promoter R-HSA-8877369 RUNX1 and FOXP3 bind the IFNG gene R-HSA-8877391 FOXP3 in complex with RUNX1 binds intron 1 of the IL2RA (CD25) gene R-HSA-8877414 FOXP3 in complex with RUNX1 binds the CTLA4 gene promoter R-HSA-8877490 FOXP3 in complex with RUNX1 binds to the TNFRSF18 (GITR) gene intron 1 R-HSA-8877879 RUNX1 and FOXP3 bind the RSPO3 gene promoter R-HSA-8877330 RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs) R-HSA-8939256 RUNX1 regulates transcription of genes involved in WNT signaling R-HSA-8878171 Transcriptional regulation by RUNX1 R-HSA-212436 Generic Transcription Pathway R-HSA-73857 RNA Polymerase II Transcription R-HSA-74160 Gene expression (Transcription)
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
