AC T04280
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ID T04280
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DT 01.02.2001 (created); rio.
DT 28.04.2015 (updated); hna.
CO Copyright (C), QIAGEN.
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FA FOXP3
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SY Forkhead box protein P3; scurfin; SFN; Zinc finger protein JM2.
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OS human, Homo sapiens
OC eukaryota; animalia; metazoa; chordata; vertebrata; tetrapoda; mammalia; eutheria; primates
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GE G004030 FOXP3; HGNC: Foxp3.
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CL C0023; fork head; 3.3.1.16.3.
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SF 94% and 86% fork head domain similarity and overall amino acid similarity to FOXP3 T04279 of mouse [1];
SF mutation causes IPEX syndrome (Immunodeficiency, Polyendocrinopathy, Enteropathy, X-linked) and IDDM syndrome (Insulin-Dependent Diabetes Mellitus) which is the human counterpart of the murine scurfy (sf) mutation [2] [3];
SF atypical forkhead domain [4];
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FF critical for control of immune responses and potentially T-cell number, acting as an apparent rheostat for T-cell activation [1];
FF repression of transcription of reporter gene via forkhead binding sites [4];
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IN T04811 FOXP1a; mouse, Mus musculus.
IN T13822 GATA-3; Mammalia.
IN T10349 RORalpha; Mammalia.
IN T02749 RORgamma; human, Homo sapiens.
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MX M01599 V$FOXP3_01.
MX M04267 V$FOXP3_03.
MX M00992 V$FOXP3_Q4.
MX M07419 V$FOXP3_Q6.
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BS R14643.
BS R66075.
BS R14644.
BS R67407.
BS R62197.
BS R62198.
BS R14642.
BS R14645.
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DR TRANSPATH: MO000028144.
DR UniProtKB: Q9BZS1;
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RN [1]; RE0015693.
RX PUBMED: 11138001.
RA Brunkow M. E., Jeffery E. W., Hjerrild K. A., Paeper B., Clark L. B., Yasayko S. A., Wilkinson J. E., Galas D., Ziegler S. F., Ramsdell F.
RT Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse.
RL Nat. Genet. 27:68-73 (2001).
RN [2]; RE0015694.
RX PUBMED: 11137993.
RA Bennett C. L., Christie J., Ramsdell F., Brunkow M. E., Ferguson P. J., Whitesell L., Kelly T. E., Saulsbury F. T., Chance P. F., Ochs H. D.
RT The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
RL Nat. Genet. 27:20-21 (2001).
RN [3]; RE0015695.
RX PUBMED: 11137992.
RA Wildin R. S., Ramsdell F., Peake J., Faravelli F., Casanova J. L., Buist N., Levy-Lahad E., Mazzella M., Goulet O., Perroni L., Bricarelli F. D., Byrne G., McEuen M., Proll S., Appleby M., Brunkow M. E.
RT X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy.
RL Nat. Genet. 27:18-20 (2001).
RN [4]; RE0023596.
RX PUBMED: 11483607.
RA Schubert L. A., Jeffery E., Zhang Y., Ramsdell F., Ziegler S. F.
RT Scurfin (FOXP3) acts as a repressor of transcription and regulates T cell activation.
RL J. Biol. Chem. 276:37672-37679 (2001).
RN [5]; RE0054837.
RX PUBMED: 17570480.
RA Zuo T., Wang L., Morrison C., Chang X., Zhang H., Li W., Liu Y., Wang Y., Liu X., Chan M. W., Liu J. Q., Love R., Liu C. G., Godfrey V., Shen R., Huang T. H., Yang T., Park B. K., Wang C. Y., Zheng P., Liu Y.
RT FOXP3 is an X-linked breast cancer suppressor gene and an important repressor of the HER-2/ErbB2 oncogene.
RL Cell 129:1275-1286 (2007).
RN [6]; RE0065711.
RX PUBMED: 18368049.
RA Zhou L., Lopes J. E., Chong M. M., Ivanov I. I., Min R., Victora G. D., Shen Y., Du J., Rubtsov Y. P., Rudensky A. Y., Ziegler S. F., Littman D. R.
RT TGF-beta-induced Foxp3 inhibits T(H)17 cell differentiation by antagonizing RORgammat function.
RL Nature 453:236-240 (2008).
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